#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-13-0804-01	TCGA-13-0804-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	Somatic		Capture	Illumina GAIIx	4	7517845	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	19	WashU	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
PER3	8863	genome.wustl.edu	37	1	7880237	7880237	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr1:7880237C>T	ENST00000361923.2	+	14	1872	c.1697C>T	c.(1696-1698)aCt>aTt	p.T566I	PER3_ENST00000377532.3_Missense_Mutation_p.T574I|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	566	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.T566I(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAATACAACTTCTTCCTCC	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											116.0	108.0	111.0					1																	7880237		2203	4300	6503	7802824	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1697C>T	1.37:g.7880237C>T	ENSP00000355031:p.Thr566Ile	Somatic		Capture	Illumina GAIIx	4	7802824	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	SNP	20	WashU	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819979	0.50633	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.12465	2.68;2.75	3.2	1.2	0.21068	.	19.756600	0.00166	N	0.000005	T	0.35451	0.0932	M	0.79258	2.445	0.09310	N	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.997	P;P;D;P	0.65233	0.84;0.858;0.933;0.84	T	0.05053	-1.0909	10	0.31617	T	0.26	.	6.2435	0.20803	0.195:0.7025:0.0:0.1025	.	566;574;574;566	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	574;566	ENSP00000366755:T574I;ENSP00000355031:T566I	ENSP00000355031:T566I	T	+	2	0	PER3	7802824	0.014000	0.17966	0.000000	0.03702	0.876000	0.50452	1.699000	0.37804	0.155000	0.19261	0.650000	0.86243	ACT		0.393	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		Missense_Mutation
KLRC3	3823	genome.wustl.edu	37	12	10572978	10572978	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0804-01	TCGA-13-0804-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr12:10572978T>C	ENST00000396439.2	-	1	216	c.172A>G	c.(172-174)Ata>Gta	p.I58V	KLRC3_ENST00000381903.2_Missense_Mutation_p.I58V|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Missense_Mutation_p.I58V	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	58					cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.I58V(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTCATATATTTTATCAATC	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											130.0	134.0	133.0					12																	10572978		2203	4300	6503	10464245	SO:0001583	missense	3823			L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.172A>G	12.37:g.10572978T>C	ENSP00000379716:p.Ile58Val	Somatic		Capture	Illumina GAIIx	4	10464245	Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	CCDS41755.1	SNP	52	WashU	.	.	.	.	.	.	.	.	.	.	t	4.673	0.125110	0.08931	.	.	ENSG00000205810	ENST00000396439;ENST00000381904;ENST00000381903	T;T;T	0.04454	3.62;3.62;3.62	2.55	-1.98	0.07480	.	2.562700	0.01167	N	0.006792	T	0.05640	0.0148	L	0.44542	1.39	0.09310	N	1	B;B	0.18166	0.026;0.015	B;B	0.28385	0.089;0.045	T	0.40175	-0.9577	10	0.22706	T	0.39	.	3.9839	0.09507	0.2048:0.0:0.4548:0.3404	.	58;58	Q07444-2;Q07444	.;NKG2E_HUMAN	V	58	ENSP00000379716:I58V;ENSP00000371329:I58V;ENSP00000371328:I58V	ENSP00000371328:I58V	I	-	1	0	KLRC3	10464245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.982000	0.03762	-0.397000	0.07691	-0.446000	0.05623	ATA		0.338	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		Missense_Mutation
AKAP8L	26993	genome.wustl.edu	37	19	15511127	15511127	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr19:15511127C>A	ENST00000397410.5	-	8	1157	c.1027G>T	c.(1027-1029)Ggc>Tgc	p.G343C	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G282C|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	343						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G343C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCCTCTTTGCCTTCTTCTCTC	0.498																																																1	Substitution - Missense(1)	ovary(1)	19											111.0	124.0	120.0					19																	15511127		1937	4145	6082	15372127	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1027G>T	19.37:g.15511127C>A	ENSP00000380557:p.Gly343Cys	Somatic		Capture	Illumina GAIIx	4	15372127	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	SNP	24	WashU	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970882	0.34754	.	.	ENSG00000011243	ENST00000397410	T	0.47869	0.83	4.49	1.13	0.20643	.	0.892267	0.09770	N	0.758146	T	0.40473	0.1118	N	0.08118	0	0.29844	N	0.828989	D;D;D	0.65815	0.992;0.995;0.992	P;P;P	0.58873	0.667;0.847;0.667	T	0.40403	-0.9565	10	0.87932	D	0	-13.6	6.7022	0.23230	0.0:0.6918:0.0:0.3082	.	282;343;343	B4DJ74;B3KMD4;Q9ULX6	.;.;AKP8L_HUMAN	C	343	ENSP00000380557:G343C	ENSP00000380557:G343C	G	-	1	0	AKAP8L	15372127	0.025000	0.19082	0.359000	0.25824	0.850000	0.48378	-0.011000	0.12721	0.536000	0.28733	0.561000	0.74099	GGC		0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		Missense_Mutation
OR11H6	122748	genome.wustl.edu	37	14	20692395	20692395	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0804-01	TCGA-13-0804-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr14:20692395T>A	ENST00000315519.2	+	1	605	c.527T>A	c.(526-528)gTc>gAc	p.V176D		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V176D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGCTATCCAGTCCCTATTGTT	0.502																																																1	Substitution - Missense(1)	ovary(1)	14											95.0	93.0	94.0					14																	20692395		2203	4300	6503	19762235	SO:0001583	missense	122748				CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.527T>A	14.37:g.20692395T>A	ENSP00000319071:p.Val176Asp	Somatic		Capture	Illumina GAIIx	4	19762235	Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	CCDS32033.1	SNP	58	WashU	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654674	0.47467	.	.	ENSG00000176219	ENST00000315519	T	0.39056	1.1	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.149103	0.30840	N	0.008779	T	0.70911	0.3278	M	0.93062	3.375	0.51482	D	0.999925	B	0.33583	0.418	P	0.55667	0.781	T	0.75622	-0.3254	10	0.72032	D	0.01	.	12.6331	0.56669	0.0:0.0:0.0:1.0	.	176	Q8NGC7	O11H6_HUMAN	D	176	ENSP00000319071:V176D	ENSP00000319071:V176D	V	+	2	0	OR11H6	19762235	0.001000	0.12720	0.996000	0.52242	0.226000	0.24999	1.150000	0.31639	2.077000	0.62373	0.363000	0.22086	GTC		0.502	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			Missense_Mutation
SLCO1A2	6579	genome.wustl.edu	37	12	21453469	21453469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr12:21453469C>T	ENST00000307378.6	-	9	1443	c.723G>A	c.(721-723)tgG>tgA	p.W241*	SLCO1A2_ENST00000537524.1_Nonsense_Mutation_p.W109*|SLCO1A2_ENST00000458504.1_Nonsense_Mutation_p.W109*|SLCO1A2_ENST00000390670.3_Nonsense_Mutation_p.W239*|SLCO1A2_ENST00000452078.1_Nonsense_Mutation_p.W241*	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	241					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.W241*(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATGCACCGACCCAACGAGTGT	0.398																																																1	Substitution - Nonsense(1)	ovary(1)	12											76.0	65.0	68.0					12																	21453469		2203	4300	6503	21344736	SO:0001587	stop_gained	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.723G>A	12.37:g.21453469C>T	ENSP00000305974:p.Trp241*	Somatic		Capture	Illumina GAIIx	4	21344736	Q9UGP7|Q9UL38	Nonsense_Mutation	SNP	ENST00000307378.6	37	CCDS8686.1	SNP	22	WashU	.	.	.	.	.	.	.	.	.	.	C	39	7.896763	0.98548	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	241;241;109;109;239	.	ENSP00000305974:W241X	W	-	3	0	SLCO1A2	21344736	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.116000	0.77119	2.605000	0.88082	0.563000	0.77884	TGG		0.398	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		Nonsense_Mutation
C2orf16	84226	genome.wustl.edu	37	2	27801203	27801203	+	Silent	SNP	A	A	G			TCGA-13-0804-01	TCGA-13-0804-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr2:27801203A>G	ENST00000408964.2	+	1	1815	c.1764A>G	c.(1762-1764)gtA>gtG	p.V588V		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	588						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.V588V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTCAAATTGTAAAAACTATGT	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											53.0	49.0	50.0					2																	27801203		1850	4084	5934	27654707	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1764A>G	2.37:g.27801203A>G		Somatic		Capture	Illumina GAIIx	4	27654707	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	CCDS42666.1	SNP	13	WashU																																																																																				0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		Silent
SYNJ1	8867	genome.wustl.edu	37	21	34011221	34011221	+	Silent	SNP	C	C	T	rs372695378		TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr21:34011221C>T	ENST00000322229.7	-	30	3911	c.3912G>A	c.(3910-3912)ccG>ccA	p.P1304P	SYNJ1_ENST00000357345.3_Silent_p.P1288P|SYNJ1_ENST00000382491.3_Silent_p.P1257P|SYNJ1_ENST00000382499.2_Silent_p.P1343P|SYNJ1_ENST00000433931.2_Silent_p.P1343P			O43426	SYNJ1_HUMAN	synaptojanin 1	1304	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1304P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTTACTTGCGGTTGTGAGG	0.408																																																1	Substitution - coding silent(1)	ovary(1)	21											185.0	192.0	189.0					21																	34011221		2203	4300	6503	32933092	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3912G>A	21.37:g.34011221C>T		Somatic		Capture	Illumina GAIIx	4	32933092	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1	SNP	27	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.298|0.298	-0.975504|-0.975504	0.02215|0.02215	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952|ENST00000418301	.|.	.|.	.|.	5.45|5.45	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.57636|0.57636	0.2067|0.2067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52472|0.52472	-0.8571|-0.8571	4|4	.|.	.|.	.|.	.|.	11.0891|11.0891	0.48104|0.48104	0.0:0.4996:0.0:0.5004|0.0:0.4996:0.0:0.5004	.|.	.|.	.|.	.|.	T|H	180|125	.|.	.|.	A|R	-|-	1|2	0|0	SYNJ1|SYNJ1	32933092|32933092	0.261000|0.261000	0.24063|0.24063	0.016000|0.016000	0.15963|0.15963	0.073000|0.073000	0.16967|0.16967	-0.425000|-0.425000	0.07017|0.07017	-0.507000|-0.507000	0.06549|0.06549	-0.137000|-0.137000	0.14449|0.14449	GCA|CGC		0.408	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				Silent
DHX57	90957	genome.wustl.edu	37	2	39085968	39085968	+	Silent	SNP	T	T	A			TCGA-13-0804-01	TCGA-13-0804-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr2:39085968T>A	ENST00000295373.6	-	6	1548	c.1422A>T	c.(1420-1422)gcA>gcT	p.A474A	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	474				A -> T (in Ref. 1; BAB71479). {ECO:0000305}.			ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A474A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CAGATTCTGATGCTTTTTCAA	0.368																																					Melanoma(191;1090 2095 4375 23729 47341)											1	Substitution - coding silent(1)	ovary(1)	2											70.0	68.0	69.0					2																	39085968		2203	4300	6503	38939472	SO:0001819	synonymous_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1422A>T	2.37:g.39085968T>A		Somatic		Capture	Illumina GAIIx	4	38939472	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	ENST00000295373.6	37	CCDS1800.1	SNP	51	WashU																																																																																				0.368	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		Silent
KRT86	3892	genome.wustl.edu	37	12	52699059	52699059	+	Silent	SNP	C	C	A	rs112956699	byFrequency	TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr12:52699059C>A	ENST00000423955.2	+	7	949	c.771C>A	c.(769-771)acC>acA	p.T257T	KRT86_ENST00000293525.5_Silent_p.T257T|KRT86_ENST00000544024.1_Silent_p.T257T|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	257	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T257T(1)		breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCAGACACCTCCGTGGTTG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	12											146.0	126.0	133.0					12																	52699059		2203	4300	6503	50985326	SO:0001819	synonymous_variant	3892			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.771C>A	12.37:g.52699059C>A		Somatic		Capture	Illumina GAIIx	4	50985326	P78387	Silent	SNP	ENST00000423955.2	37	CCDS41785.1	SNP	24	WashU																																																																																				0.567	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		Silent
TET1	80312	genome.wustl.edu	37	10	70406255	70406255	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr10:70406255G>T	ENST00000373644.4	+	4	3978	c.3769G>T	c.(3769-3771)Gtt>Ttt	p.V1257F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1257					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V1257F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGGTGAAGGTTGAACCATT	0.403																																																1	Substitution - Missense(1)	ovary(1)	10											77.0	74.0	75.0					10																	70406255		2203	4300	6503	70076261	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3769G>T	10.37:g.70406255G>T	ENSP00000362748:p.Val1257Phe	Somatic		Capture	Illumina GAIIx	4	70076261	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	SNP	44	WashU	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761666	0.49468	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.25	2.21	0.28008	.	1.597070	0.04183	N	0.326805	T	0.07773	0.0195	N	0.24115	0.695	0.29156	N	0.878088	B	0.15930	0.015	B	0.12837	0.008	T	0.36261	-0.9755	10	0.54805	T	0.06	.	7.3934	0.26923	0.0771:0.0:0.6249:0.2981	.	1257	Q8NFU7	TET1_HUMAN	F	1257	ENSP00000362748:V1257F	ENSP00000362748:V1257F	V	+	1	0	TET1	70076261	0.997000	0.39634	0.986000	0.45419	0.777000	0.43975	2.169000	0.42434	0.159000	0.19401	0.563000	0.77884	GTT		0.403	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		Missense_Mutation
SPATA31D5P	347127	genome.wustl.edu	37	9	84530617	84530617	+	RNA	SNP	A	A	T			TCGA-13-0804-01	TCGA-13-0804-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr9:84530617A>T	ENST00000527857.1	+	0	639					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCCTGACCTGATCACCACCTT	0.532																																																0			9																																								83720437								9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530617A>T		Somatic		Capture	Illumina GAIIx	4	83720437		Missense_Mutation	SNP	ENST00000527857.1	37		SNP	12	WashU																																																																																				0.532	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		Missense_Mutation
CYP3A4	1576	genome.wustl.edu	37	7	99361631	99361631	+	Silent	SNP	G	G	A	rs187260898		TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr7:99361631G>A	ENST00000336411.2	-	10	1056	c.873C>T	c.(871-873)tcC>tcT	p.S291S	CYP3A4_ENST00000354593.2_Silent_p.S141S|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	291					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.S291S(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	GCTCCAGATCGGACAGAGCTG	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20916	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	7											81.0	79.0	80.0					7																	99361631		2203	4300	6503	99199567	SO:0001819	synonymous_variant	1576			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.873C>T	7.37:g.99361631G>A		Somatic		Capture	Illumina GAIIx	4	99199567	P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	CCDS5674.1	SNP	39	WashU																																																																																				0.428	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			Silent
PCDH19	57526	genome.wustl.edu	37	X	99662583	99662583	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0804-01	TCGA-13-0804-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chrX:99662583T>A	ENST00000373034.4	-	1	2688	c.1013A>T	c.(1012-1014)gAc>gTc	p.D338V	PCDH19_ENST00000420881.2_Missense_Mutation_p.D338V|PCDH19_ENST00000255531.7_Missense_Mutation_p.D338V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D338V(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTCATTGGTGTCCAGCACGCT	0.607																																																1	Substitution - Missense(1)	ovary(1)	X											45.0	49.0	47.0					X																	99662583		2198	4276	6474	99549239	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1013A>T	X.37:g.99662583T>A	ENSP00000362125:p.Asp338Val	Somatic		Capture	Illumina GAIIx	4	99549239	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	SNP	58	WashU	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630011	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.68025	-0.3;-0.3;-0.3	5.65	5.65	0.86999	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.89887	0.6845	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	D	0.94112	0.7372	10	0.87932	D	0	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	338;338;338	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	V	338	ENSP00000400327:D338V;ENSP00000362125:D338V;ENSP00000255531:D338V	ENSP00000255531:D338V	D	-	2	0	PCDH19	99549239	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	7.997000	0.88414	1.995000	0.58328	0.417000	0.27973	GAC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		Missense_Mutation
TARSL2	123283	genome.wustl.edu	37	15	102226205	102226205	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr15:102226205G>A	ENST00000335968.3	-	11	1597	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	461					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.L461F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTTCCCAGAGTTTACTGTTG	0.453																																																1	Substitution - Missense(1)	ovary(1)	15											154.0	144.0	147.0					15																	102226205		2203	4300	6503	100043728	SO:0001583	missense	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1381C>T	15.37:g.102226205G>A	ENSP00000338093:p.Leu461Phe	Somatic		Capture	Illumina GAIIx	4	100043728	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	SNP	36	WashU	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339590	0.81911	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.72167	-0.63;-0.63	5.93	5.0	0.66597	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.061001	0.64402	D	0.000002	D	0.90205	0.6938	H	0.98446	4.235	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93781	0.7084	10	0.87932	D	0	-12.946	14.7998	0.69906	0.0:0.1449:0.8551:0.0	.	461;366	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	F	461;366;461	ENSP00000338093:L461F;ENSP00000439899:L461F	ENSP00000329291:L366F	L	-	1	0	TARSL2	100043728	1.000000	0.71417	0.888000	0.34837	0.982000	0.71751	5.506000	0.66993	1.480000	0.48289	0.655000	0.94253	CTC		0.453	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		Missense_Mutation
NALCN	259232	genome.wustl.edu	37	13	101714442	101714442	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0804-01	TCGA-13-0804-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr13:101714442G>A	ENST00000251127.6	-	41	4714	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1545					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R1545W(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGCTCTTCCGGATGTCCACG	0.537																																																1	Substitution - Missense(1)	ovary(1)	13											84.0	64.0	71.0					13																	101714442		2203	4300	6503	100512443	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4633C>T	13.37:g.101714442G>A	ENSP00000251127:p.Arg1545Trp	Somatic		Capture	Illumina GAIIx	4	100512443	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	SNP	39	WashU	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058340	0.76074	.	.	ENSG00000102452	ENST00000251127	D	0.98012	-4.66	5.82	2.79	0.32731	.	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98276	1.0506	10	0.87932	D	0	.	13.6106	0.62076	0.0:0.0:0.4732:0.5268	.	1545	Q8IZF0	NALCN_HUMAN	W	1545	ENSP00000251127:R1545W	ENSP00000251127:R1545W	R	-	1	2	NALCN	100512443	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.261000	0.43276	1.407000	0.46875	0.650000	0.86243	CGG		0.537	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		Missense_Mutation
GPRASP1	9737	genome.wustl.edu	37	X	101910812	101910812	+	Silent	SNP	G	G	C	rs200972610		TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chrX:101910812G>C	ENST00000361600.5	+	5	2772	c.1971G>C	c.(1969-1971)ggG>ggC	p.G657G	GPRASP1_ENST00000415986.1_Silent_p.G657G|GPRASP1_ENST00000444152.1_Silent_p.G657G|GPRASP1_ENST00000537097.1_Silent_p.G657G|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	657	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.G657G(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAAGCATGGGACTGGTGTCA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	X											127.0	119.0	122.0					X																	101910812		2203	4300	6503	101797468	SO:0001819	synonymous_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1971G>C	X.37:g.101910812G>C		Somatic		Capture	Illumina GAIIx	4	101797468	O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	CCDS35352.1	SNP	41	WashU																																																																																				0.498	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		Silent
XPNPEP1	7511	genome.wustl.edu	37	10	111628446	111628446	+	Silent	SNP	G	G	A			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr10:111628446G>A	ENST00000502935.1	-	20	1917	c.1798C>T	c.(1798-1800)Ctg>Ttg	p.L600L	XPNPEP1_ENST00000322238.8_Silent_p.L576L|XPNPEP1_ENST00000369683.1_Silent_p.L486L|XPNPEP1_ENST00000369680.4_Silent_p.L557L|U4_ENST00000607255.1_RNA					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.L557L(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCAAAGGTCAGGCTTCCCCGG	0.433																																																1	Substitution - coding silent(1)	ovary(1)	10											190.0	196.0	194.0					10																	111628446		2203	4300	6503	111618436	SO:0001819	synonymous_variant	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1798C>T	10.37:g.111628446G>A		Somatic		Capture	Illumina GAIIx	4	111618436		Silent	SNP	ENST00000502935.1	37	CCDS7560.2	SNP	35	WashU																																																																																				0.433	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			Silent
ATG3	64422	genome.wustl.edu	37	3	112253138	112253138	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr3:112253138C>A	ENST00000283290.5	-	11	1275	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	ATG3_ENST00000495756.1_5'Flank|ATG3_ENST00000402314.2_Missense_Mutation_p.G281W	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	281					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.G281W(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						AGTTCTCCCCCTCCTTCTGCA	0.353																																																1	Substitution - Missense(1)	ovary(1)	3											132.0	115.0	121.0					3																	112253138		2203	4300	6503	113735828	SO:0001583	missense	64422				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.841G>T	3.37:g.112253138C>A	ENSP00000283290:p.Gly281Trp	Somatic		Capture	Illumina GAIIx	4	113735828	Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	CCDS2966.1	SNP	24	WashU	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766926	0.90020	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	M	0.92317	3.295	0.80722	D	1	P;P	0.52842	0.945;0.956	P;P	0.61800	0.685;0.894	D	0.88291	0.2943	9	0.87932	D	0	-33.9306	20.1823	0.98208	0.0:1.0:0.0:0.0	.	281;281	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	W	281	.	ENSP00000283290:G281W	G	-	1	0	ATG3	113735828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.771000	0.95319	0.650000	0.86243	GGG		0.353	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		Missense_Mutation
MCAM	4162	genome.wustl.edu	37	11	119183335	119183335	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr11:119183335C>T	ENST00000264036.4	-	7	777	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	MCAM_ENST00000392814.1_Missense_Mutation_p.E204K|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	255	Ig-like C2-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E255K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCTCCACTTCCAGCCACACT	0.577																																																1	Substitution - Missense(1)	ovary(1)	11											93.0	95.0	95.0					11																	119183335		2199	4295	6494	118688545	SO:0001583	missense	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.763G>A	11.37:g.119183335C>T	ENSP00000264036:p.Glu255Lys	Somatic		Capture	Illumina GAIIx	4	118688545	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	CCDS31690.1	SNP	30	WashU	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084183	0.55861	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.13307	2.6;2.6	4.87	4.87	0.63330	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11495	0.0280	L	0.45051	1.395	0.37426	D	0.913828	B	0.28998	0.23	B	0.27715	0.082	T	0.10086	-1.0645	9	0.12103	T	0.63	-18.7266	11.7806	0.52013	0.0:0.808:0.192:0.0	.	255	P43121	MUC18_HUMAN	K	255;204	ENSP00000264036:E255K;ENSP00000376561:E204K	ENSP00000264036:E255K	E	-	1	0	MCAM	118688545	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	2.229000	0.42990	2.681000	0.91329	0.561000	0.74099	GAA		0.577	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			Missense_Mutation
PTPRZ1	5803	genome.wustl.edu	37	7	121671540	121671540	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr7:121671540C>T	ENST00000393386.2	+	15	5504	c.5093C>T	c.(5092-5094)gCa>gTa	p.A1698V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.A838V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1698					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1698V(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGTCGGAGCAATTCCAATA	0.308																																																1	Substitution - Missense(1)	ovary(1)	7											93.0	89.0	91.0					7																	121671540		2203	4297	6500	121458776	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5093C>T	7.37:g.121671540C>T	ENSP00000377047:p.Ala1698Val	Somatic		Capture	Illumina GAIIx	4	121458776	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	SNP	25	WashU	.	.	.	.	.	.	.	.	.	.	C	34	5.362852	0.95877	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.14022	2.54;2.54	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.38374	0.1038	M	0.64404	1.975	0.80722	D	1	P;B;D	0.89917	0.787;0.427;1.0	B;B;D	0.74023	0.298;0.418;0.982	T	0.02546	-1.1143	10	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	837;838;1698	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1698;838	ENSP00000377047:A1698V;ENSP00000410000:A838V	ENSP00000377047:A1698V	A	+	2	0	PTPRZ1	121458776	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.372000	0.79612	2.809000	0.96659	0.655000	0.94253	GCA		0.308	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		Missense_Mutation
CASR	846	genome.wustl.edu	37	3	121994706	121994706	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr3:121994706G>C	ENST00000490131.1	+	5	1797	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	CASR_ENST00000296154.5_Missense_Mutation_p.E475D|CASR_ENST00000498619.1_Missense_Mutation_p.E475D	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	475					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.E475D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ATATGGGGGAGCAGGTGACCT	0.498																																																1	Substitution - Missense(1)	ovary(1)	3											119.0	108.0	112.0					3																	121994706		2203	4300	6503	123477396	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1425G>C	3.37:g.121994706G>C	ENSP00000418685:p.Glu475Asp	Somatic		Capture	Illumina GAIIx	4	123477396	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	SNP	34	WashU	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497990	0.44455	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.82711	-1.64;-1.64;-1.64	5.69	3.79	0.43588	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	N	0.20530	0.585	0.53005	D	0.999961	D;D	0.71674	0.997;0.998	D;D	0.79108	0.992;0.949	T	0.75536	-0.3283	10	0.15952	T	0.53	.	10.7338	0.46113	0.1636:0.0:0.8364:0.0	.	475;475	E7ENE0;P41180	.;CASR_HUMAN	D	475	ENSP00000418685:E475D;ENSP00000420194:E475D;ENSP00000296154:E475D	ENSP00000296154:E475D	E	+	3	2	CASR	123477396	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.800000	0.38833	0.764000	0.33197	0.655000	0.94253	GAG		0.498	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		Missense_Mutation
FAM83A	84985	genome.wustl.edu	37	8	124219413	124219413	+	Missense_Mutation	SNP	G	G	A	rs373188549		TCGA-13-0804-01	TCGA-13-0804-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr8:124219413G>A	ENST00000518448.1	+	5	2804	c.790G>A	c.(790-792)Gga>Aga	p.G264R	FAM83A_ENST00000276699.6_Missense_Mutation_p.G264R|FAM83A_ENST00000546351.1_Missense_Mutation_p.G208R|FAM83A_ENST00000522648.1_Missense_Mutation_p.G208R|FAM83A_ENST00000536633.1_Missense_Mutation_p.G264R|FAM83A_ENST00000318462.6_Missense_Mutation_p.G264R			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	264								p.G264R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ctGGCTCTGCGGACACGTGCA	0.617																																																1	Substitution - Missense(1)	ovary(1)	8						G	ARG/GLY,ARG/GLY	1,4405		0,1,2202	26.0	22.0	23.0		790,790	4.7	1.0	8		23	0,8600		0,0,4300	no	missense,missense	FAM83A	NM_032899.4,NM_207006.1	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	264/435,264/368	124219413	1,13005	2203	4300	6503	124288594	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.790G>A	8.37:g.124219413G>A	ENSP00000428876:p.Gly264Arg	Somatic		Capture	Illumina GAIIx	4	124288594	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	SNP	39	WashU	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630665	0.87660	2.27E-4	0.0	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.13657	2.59;2.57;2.59;2.59;2.57;2.59	4.69	4.69	0.59074	.	0.069462	0.64402	D	0.000012	T	0.38957	0.1060	M	0.77103	2.36	0.58432	D	0.999995	P;D;D	0.89917	0.945;0.999;1.0	P;P;D	0.77557	0.45;0.847;0.99	T	0.16305	-1.0407	10	0.32370	T	0.25	-10.9734	17.9648	0.89097	0.0:0.0:1.0:0.0	.	208;264;264	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	R	264;208;264;264;208;264	ENSP00000428876:G264R;ENSP00000440565:G208R;ENSP00000445218:G264R;ENSP00000323034:G264R;ENSP00000427979:G208R;ENSP00000276699:G264R	ENSP00000276699:G264R	G	+	1	0	FAM83A	124288594	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	6.341000	0.72977	2.326000	0.78906	0.430000	0.28490	GGA		0.617	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		Missense_Mutation
COPG1	22820	genome.wustl.edu	37	3	128971125	128971125	+	Splice_Site	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr3:128971125C>T	ENST00000314797.6	+	3	196	c.92C>T	c.(91-93)gCc>gTc	p.A31V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	31					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.A31V(1)									TCTTCTTAGGCCCGTGTATTT	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											98.0	98.0	98.0					3																	128971125		2203	4300	6503	130453815	SO:0001630	splice_region_variant	22820			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.91-1C>T	3.37:g.128971125C>T		Somatic		Capture	Illumina GAIIx	4	130453815	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	SNP	26	WashU	.	.	.	.	.	.	.	.	.	.	C	32	5.113559	0.94339	.	.	ENSG00000181789	ENST00000314797	T	0.12465	2.68	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.078251	0.52532	N	0.000061	T	0.23846	0.0577	M	0.86028	2.79	0.58432	D	0.999997	P	0.34892	0.474	B	0.33254	0.16	T	0.09465	-1.0673	10	0.72032	D	0.01	-6.0559	15.8781	0.79182	0.0:1.0:0.0:0.0	.	31	Q9Y678	COPG_HUMAN	V	31	ENSP00000325002:A31V	ENSP00000325002:A31V	A	+	2	0	COPG	130453815	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	7.517000	0.81783	2.351000	0.79841	0.460000	0.39030	GCC		0.423	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	Missense_Mutation	Missense_Mutation
ZBED6CL	113763	genome.wustl.edu	37	7	150027803	150027803	+	Missense_Mutation	SNP	G	G	C	rs374205555		TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr7:150027803G>C	ENST00000343855.4	+	1	866	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	104								p.V104L(1)									GCAAGTCCTCGTGTACAAGGT	0.572																																																1	Substitution - Missense(1)	ovary(1)	7											73.0	74.0	74.0					7																	150027803		2203	4300	6503	149658736	SO:0001583	missense	113763			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.310G>C	7.37:g.150027803G>C	ENSP00000343242:p.Val104Leu	Somatic		Capture	Illumina GAIIx	4	149658736		Missense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043722	0.36085	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	1.92	0.25849	.	0.387601	0.16547	U	0.209663	T	0.27454	0.0674	L	0.27053	0.805	0.20703	N	0.999864	D	0.57571	0.98	P	0.46253	0.509	T	0.08310	-1.0728	9	0.48119	T	0.1	.	8.4154	0.32668	0.2054:0.0:0.7946:0.0	.	104	Q96FA7	CG029_HUMAN	L	104	.	ENSP00000343242:V104L	V	+	1	0	C7orf29	149658736	0.813000	0.29090	0.436000	0.26797	0.612000	0.37316	0.910000	0.28571	0.366000	0.24427	-0.221000	0.12465	GTG		0.572	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		Missense_Mutation
ADCY10	55811	genome.wustl.edu	37	1	167852758	167852758	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr1:167852758C>T	ENST00000367851.4	-	9	1121	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	ADCY10_ENST00000367848.1_Missense_Mutation_p.A221T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A160T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	313	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.A313T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCTGGATGGCTGGGCCTATC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											204.0	179.0	187.0					1																	167852758		2203	4300	6503	166119382	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.937G>A	1.37:g.167852758C>T	ENSP00000356825:p.Ala313Thr	Somatic		Capture	Illumina GAIIx	4	166119382	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	SNP	28	WashU	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975795	0.34848	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	D;D;D	0.81821	-1.54;-1.54;-1.54	5.71	3.77	0.43336	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.402918	0.23918	N	0.043262	T	0.69369	0.3103	L	0.33624	1.015	0.32775	N	0.5032179999999999	P;P;P	0.52692	0.944;0.944;0.955	P;P;P	0.57204	0.651;0.719;0.815	T	0.66264	-0.5967	9	0.19590	T	0.45	-7.3137	11.2367	0.48944	0.3335:0.6665:0.0:0.0	.	160;221;313	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	T	160;313;221	ENSP00000441992:A160T;ENSP00000356825:A313T;ENSP00000356822:A221T	ENSP00000356822:A221T	A	-	1	0	ADCY10	166119382	0.860000	0.29831	0.540000	0.28089	0.003000	0.03518	1.426000	0.34870	0.694000	0.31654	0.655000	0.94253	GCC		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		Missense_Mutation
CEP350	9857	genome.wustl.edu	37	1	180023608	180023608	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr1:180023608G>T	ENST00000367607.3	+	25	5651	c.5233G>T	c.(5233-5235)Ggt>Tgt	p.G1745C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1745					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G1745C(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAACAGCGTGGTTTGCTTTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	1											45.0	40.0	42.0					1																	180023608		2203	4300	6503	178290231	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5233G>T	1.37:g.180023608G>T	ENSP00000356579:p.Gly1745Cys	Somatic		Capture	Illumina GAIIx	4	178290231	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	SNP	47	WashU	.	.	.	.	.	.	.	.	.	.	G	33	5.276000	0.95459	.	.	ENSG00000135837	ENST00000367607	T	0.67345	-0.26	5.95	5.95	0.96441	.	0.000000	0.49916	D	0.000128	T	0.73946	0.3652	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70417	-0.4877	9	.	.	.	.	19.9975	0.97389	0.0:0.0:1.0:0.0	.	1745;1745	E7EU22;Q5VT06	.;CE350_HUMAN	C	1745	ENSP00000356579:G1745C	.	G	+	1	0	CEP350	178290231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	GGT		0.393	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		Missense_Mutation
CPS1	1373	genome.wustl.edu	37	2	211441115	211441115	+	Silent	SNP	C	C	G			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr2:211441115C>G	ENST00000233072.5	+	3	478	c.282C>G	c.(280-282)ctC>ctG	p.L94L	CPS1_ENST00000430249.2_Silent_p.L100L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	94	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.L94L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GACAGATTCTCACAATGGCCA	0.413																																																1	Substitution - coding silent(1)	ovary(1)	2											186.0	170.0	175.0					2																	211441115		2203	4300	6503	211149360	SO:0001819	synonymous_variant	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.282C>G	2.37:g.211441115C>G		Somatic		Capture	Illumina GAIIx	4	211149360	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1	SNP	29	WashU																																																																																				0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			Silent
BRCA1	672	genome.wustl.edu	37	17	41258544	41258544	+	Missense_Mutation	SNP	G	G	C	rs398122635		TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA		dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr17:41258544G>C	ENST00000357654.3	-	4	259	c.141C>G	c.(139-141)tgC>tgG	p.C47W	BRCA1_ENST00000471181.2_Missense_Mutation_p.C47W|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.C47W|BRCA1_ENST00000354071.3_Missense_Mutation_p.C47W|BRCA1_ENST00000351666.3_Missense_Mutation_p.C47W|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000491747.2_Missense_Mutation_p.C47W|BRCA1_ENST00000352993.3_Missense_Mutation_p.C47W|BRCA1_ENST00000346315.3_Missense_Mutation_p.C47W	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	47					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C47W(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTTCAGCATGCAAAATCTAT	0.308			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Missense(1)	ovary(1)	17											36.0	35.0	35.0					17																	41258544		2201	4294	6495	38512070	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.141C>G	17.37:g.41258544G>C	ENSP00000350283:p.Cys47Trp	Somatic		PCR	Sanger_PCR_WGA	Phase_III	38512070	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	SNP	46	WashU	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705325	0.48412	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000471181;ENST00000491747;ENST00000478531;ENST00000470026;ENST00000494123;ENST00000476777	D;D;D;D;D;D;D;D;D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43;-6.43	5.17	2.51	0.30379	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000043	D	0.99778	0.9908	H	0.98918	4.37	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.997;1.0;0.997;0.998;1.0;0.971	D	0.98177	1.0455	10	0.87932	D	0	-9.9481	5.0554	0.14529	0.7136:0.1759:0.1105:0.0	.	47;47;47;47;47;47	E7ETR2;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398	.;.;.;.;.;BRCA1_HUMAN	W	47	ENSP00000350283:C47W;ENSP00000326002:C47W;ENSP00000312236:C47W;ENSP00000246907:C47W;ENSP00000338007:C47W;ENSP00000417148:C47W;ENSP00000418960:C47W;ENSP00000420705:C47W;ENSP00000420412:C47W;ENSP00000419274:C47W;ENSP00000419103:C47W;ENSP00000417554:C47W	ENSP00000246907:C47W	C	-	3	2	BRCA1	38512070	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.078000	0.30754	0.781000	0.33589	-0.218000	0.12543	TGC		0.308	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		Missense_Mutation
MSMB	4477	genome.wustl.edu	37	10	51562381	51562381	+	Missense_Mutation	SNP	T	T	A			TCGA-13-0804-01	TCGA-13-0804-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr10:51562381T>A	ENST00000358559.2	+	4	413	c.326T>A	c.(325-327)gTc>gAc	p.V109D	NCOA4_ENST00000414907.2_5'Flank|NCOA4_ENST00000452682.1_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.S74T|NCOA4_ENST00000374087.4_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000438493.1_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	109						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V109D(1)		lung(4)|ovary(2)|prostate(1)	7						ACCTGTTCTGTCAGTGAATGG	0.468																																																1	Substitution - Missense(1)	ovary(1)	10											172.0	146.0	155.0					10																	51562381		2203	4300	6503	51232387	SO:0001583	missense	4477			BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.326T>A	10.37:g.51562381T>A	ENSP00000351363:p.Val109Asp	Somatic		Capture	Illumina GAIIx	4	51232387	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	37	CCDS7235.1	SNP	58	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.69|16.69	3.192842|3.192842	0.58017|0.58017	.|.	.|.	ENSG00000138294|ENSG00000138294	ENST00000298239|ENST00000358559	T|T	0.24538|0.13657	1.85|2.57	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.451809	.|0.20798	.|N	.|0.085481	T|T	0.31389|0.31389	0.0795|0.0795	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D|D	0.76494|0.76494	0.999|0.999	D|D	0.69479|0.69479	0.964|0.964	T|T	0.03673|0.03673	-1.1014|-1.1014	8|9	0.87932|0.87932	D|D	0|0	-14.1726|-14.1726	9.9184|9.9184	0.41448|0.41448	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	74|109	P08118-2|P08118	.|MSMB_HUMAN	T|D	74|109	ENSP00000298239:S74T|ENSP00000351363:V109D	ENSP00000298239:S74T|ENSP00000351363:V109D	S|V	+|+	1|2	0|0	MSMB|MSMB	51232387|51232387	0.266000|0.266000	0.24112|0.24112	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	3.032000|3.032000	0.49736|0.49736	2.126000|2.126000	0.65437|0.65437	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.468	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634		Missense_Mutation
MSMB	4477	genome.wustl.edu	37	10	51562388	51562388	+	Silent	SNP	A	A	G			TCGA-13-0804-01	TCGA-13-0804-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr10:51562388A>G	ENST00000358559.2	+	4	420	c.333A>G	c.(331-333)gaA>gaG	p.E111E	NCOA4_ENST00000414907.2_5'Flank|NCOA4_ENST00000452682.1_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.N76S|NCOA4_ENST00000374087.4_5'Flank|NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000438493.1_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	111						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.E111E(1)		lung(4)|ovary(2)|prostate(1)	7						CTGTCAGTGAATGGATAATCT	0.458																																																1	Substitution - coding silent(1)	ovary(1)	10											163.0	138.0	146.0					10																	51562388		2203	4300	6503	51232394	SO:0001819	synonymous_variant	4477			BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.333A>G	10.37:g.51562388A>G		Somatic		Capture	Illumina GAIIx	4	51232394	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	37	CCDS7235.1	SNP	4	WashU	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598222	0.46318	.	.	ENSG00000138294	ENST00000298239	T	0.21031	2.03	4.33	-8.67	0.00863	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.36359	-0.9751	8	0.87932	D	0	6.1598	2.059	0.03587	0.1609:0.3137:0.3317:0.1937	.	76	P08118-2	.	S	76	ENSP00000298239:N76S	ENSP00000298239:N76S	N	+	2	0	MSMB	51232394	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.829000	0.00356	-2.003000	0.00962	0.528000	0.53228	AAT		0.458	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634		Missense_Mutation
RTN1	6252	genome.wustl.edu	37	14	60193673	60193673	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr14:60193673C>T	ENST00000267484.5	-	3	2064	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	577					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.A577T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGGCGGGGCGCCAGGACCT	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											20.0	22.0	21.0					14																	60193673		2203	4300	6503	59263426	SO:0001583	missense	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1729G>A	14.37:g.60193673C>T	ENSP00000267484:p.Ala577Thr	Somatic		Capture	Illumina GAIIx	4	59263426	Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	CCDS9740.1	SNP	27	WashU	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015652	0.19355	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.24538	1.85	4.36	-1.58	0.08479	.	4.436180	0.00780	N	0.001261	T	0.15652	0.0377	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.07443	-1.0772	10	0.15066	T	0.55	.	1.8458	0.03159	0.1876:0.4109:0.1965:0.205	.	577	Q16799	RTN1_HUMAN	T	157;577;503	ENSP00000267484:A577T	ENSP00000267484:A577T	A	-	1	0	RTN1	59263426	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.503000	0.06383	-0.501000	0.06605	-1.255000	0.01485	GCC		0.582	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			Missense_Mutation
TRIP11	9321	genome.wustl.edu	37	14	92441013	92441014	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr14:92441013_92441014GG>CC	ENST00000267622.4	-	19	5904_5905	c.5531_5532CC>GG	c.(5530-5532)cCC>cGG	p.P1844R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1844					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P1844R(1)|p.P1844P(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAGGTGTGTTGGGAACACTTTT	0.371			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(2)	14																																								91510767	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5531_5532delinsCC	14.37:g.92441013_92441014delinsCC	ENSP00000267622:p.Pro1844Arg	Somatic		Capture	Illumina GAIIx	PhaseIII	91510766	B2RUT2|O14689|O15154|O95949	Missense	DNP	ENST00000267622.4	37	CCDS9899.1	DNP	47	WashU																																																																																				0.371	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			Missense
CYP2A7P1	1550	genome.wustl.edu	37	19	41533053	41533053	+	IGR	SNP	G	G	A			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr19:41533053G>A								CYP2B6 (8750 upstream) : CYP2A13 (61323 downstream)														p.S99S(1)									CGCCTCGCCCGCTGAACTCCT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	19																																								46224893	SO:0001628	intergenic_variant																																19.37:g.41533053G>A		Somatic		Capture	Illumina GAIIx	4	46224893		Silent	SNP		37		SNP	38	WashU																																																																																			0	0.667									Silent
NGEF	25791	genome.wustl.edu	37	2	233757633	233757633	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr2:233757633G>T	ENST00000264051.3	-	7	1395	c.1117C>A	c.(1117-1119)Cag>Aag	p.Q373K	NGEF_ENST00000539537.1_Missense_Mutation_p.Q96K|NGEF_ENST00000373552.4_Missense_Mutation_p.Q281K	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	373	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q373K(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTCCGCTCCTGGTAGGTCTGA	0.592																																																1	Substitution - Missense(1)	ovary(1)	2											172.0	150.0	158.0					2																	233757633		2203	4300	6503	233465877	SO:0001583	missense	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1117C>A	2.37:g.233757633G>T	ENSP00000264051:p.Gln373Lys	Somatic		Capture	Illumina GAIIx	4	233465877	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	SNP	47	WashU	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905244|4.905244	0.92035|0.92035	.|.	.|.	ENSG00000066248|ENSG00000066248	ENST00000420650|ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	.|T;T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01;-0.01	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83303|0.83303	0.5225|0.5225	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.959	.|D;P	.|0.73708	.|0.981;0.696	D|D	0.86645|0.86645	0.1894|0.1894	5|10	.|0.66056	.|D	.|0.02	-40.9763|-40.9763	18.9148|18.9148	0.92501|0.92501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|281;373	.|E9PC42;Q8N5V2	.|.;NGEF_HUMAN	Q|K	165|373;281;263;96;96;96	.|ENSP00000264051:Q373K;ENSP00000362653:Q281K;ENSP00000439035:Q96K;ENSP00000401063:Q96K;ENSP00000412614:Q96K	.|ENSP00000264051:Q373K	P|Q	-|-	2|1	0|0	NGEF|NGEF	233465877|233465877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	9.441000|9.441000	0.97557|0.97557	2.470000|2.470000	0.83445|0.83445	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		Missense_Mutation
PTGS1	5742	genome.wustl.edu	37	9	125140732	125140732	+	Missense_Mutation	SNP	C	C	T	rs181947887	byFrequency	TCGA-13-0804-01	TCGA-13-0804-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr9:125140732C>T	ENST00000362012.2	+	4	237	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000540753.1_Missense_Mutation_p.R53W|PTGS1_ENST00000223423.4_Missense_Mutation_p.R78W	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	78					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R78W(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GACCTGGCTCCGGAATTCACT	0.597													C|||	8	0.00159744	0.0	0.0115	5008	,	,		18763	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	9	GRCh37	CM071951	PTGS1	M	rs181947887	C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	109.0	116.0	113.0		232,232	5.7	1.0	9		113	0,8600		0,0,4300	yes	missense,missense	PTGS1	NM_000962.2,NM_080591.1	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	78/600,78/563	125140732	2,13004	2203	4300	6503	124180553	SO:0001583	missense	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.232C>T	9.37:g.125140732C>T	ENSP00000354612:p.Arg78Trp	Somatic		Capture	Illumina GAIIx	4	124180553	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	SNP	23	WashU	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	C	21.7	4.189947	0.78789	4.54E-4	0.0	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000426608	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.68	5.68	0.88126	.	0.106561	0.64402	D	0.000003	T	0.68146	0.2969	L	0.49778	1.585	0.80722	D	1	D;D;D	0.69078	0.996;0.986;0.997	P;P;P	0.55391	0.775;0.477;0.764	T	0.73924	-0.3829	10	0.66056	D	0.02	-31.7381	18.7862	0.91955	0.0:1.0:0.0:0.0	.	53;78;78	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	W	53;78;78;36	ENSP00000437709:R53W;ENSP00000354612:R78W;ENSP00000223423:R78W;ENSP00000411606:R36W	ENSP00000223423:R78W	R	+	1	2	PTGS1	124180553	0.001000	0.12720	1.000000	0.80357	0.891000	0.51852	1.307000	0.33516	2.677000	0.91161	0.563000	0.77884	CGG		0.597	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			Missense_Mutation
GPR101	83550	genome.wustl.edu	37	X	136113808	136113808	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0804-01	TCGA-13-0804-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chrX:136113808G>A	ENST00000298110.1	-	1	25	c.26C>T	c.(25-27)aCg>aTg	p.T9M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.T9M(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACTCTCGCGCGTGCTGTTGGT	0.622																																																1	Substitution - Missense(1)	ovary(1)	X											92.0	51.0	65.0					X																	136113808		2203	4300	6503	135941474	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.26C>T	X.37:g.136113808G>A	ENSP00000298110:p.Thr9Met	Somatic		Capture	Illumina GAIIx	4	135941474	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414170	0.42817	.	.	ENSG00000165370	ENST00000298110	T	0.65549	-0.16	4.79	3.87	0.44632	.	.	.	.	.	T	0.62600	0.2441	N	0.24115	0.695	0.23101	N	0.998292	D	0.76494	0.999	P	0.59487	0.858	T	0.53837	-0.8382	9	0.45353	T	0.12	-9.7465	12.3859	0.55333	0.0:0.1674:0.8326:0.0	.	9	Q96P66	GP101_HUMAN	M	9	ENSP00000298110:T9M	ENSP00000298110:T9M	T	-	2	0	GPR101	135941474	0.032000	0.19561	0.648000	0.29521	0.658000	0.38924	0.294000	0.19047	2.100000	0.63781	0.544000	0.68410	ACG		0.622	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			Missense_Mutation
CCNT1	904	genome.wustl.edu	37	12	49087916	49087916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-13-0804-01	TCGA-13-0804-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr12:49087916delC	ENST00000261900.3	-	9	1303	c.1081delG	c.(1081-1083)gatfs	p.D361fs		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	361					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.D361fs*29(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AAGGAATGATCAACTCCTGTA	0.458																																																1	Deletion - Frameshift(1)	ovary(1)	12											173.0	165.0	168.0					12																	49087916		2203	4300	6503	47374183	SO:0001589	frameshift_variant	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1081delG	12.37:g.49087916delC	ENSP00000261900:p.Asp361fs	Somatic		Capture	Illumina GAIIx	PhaseIII	47374183	A9XU13|E7EX76|O60581	Frame_Shift_Del	DEL	ENST00000261900.3	37	CCDS8766.1	DEL	29	WashU																																																																																				0.458	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		Frame_Shift_Del
IGHD	3495	genome.wustl.edu	37	14	106311724	106311726	+	RNA	DEL	CTC	CTC	-	rs369060026		TCGA-13-0804-01	TCGA-13-0804-10	CTC	CTC	CTC	-	CTC	CTC	Unknown	Valid	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr14:106311724_106311726delCTC	ENST00000390556.2	-	0	284_286							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AGCGGAAGATCTCCTTCTTACTC	0.616																																																0			14																																								105382771			0			K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311724_106311726delCTC		Somatic		Capture	Illumina GAIIx	PhaseIII	105382769	Q6P4I8|Q8WU38	In_Frame_Del	DEL	ENST00000390556.2	37		DEL	32	WashU																																																																																				0.616	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		In_Frame_Del
CBLC	23624	genome.wustl.edu	37	19	45296791	45296791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-13-0804-01	TCGA-13-0804-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0804-01	TCGA-13-0804-10	g.chr19:45296791delA	ENST00000270279.3	+	8	1261	c.1198delA	c.(1198-1200)agtfs	p.S400fs	CBLC_ENST00000341505.4_Frame_Shift_Del_p.S354fs	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	400	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S400fs*55(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GGAGGCCGTGAGTATCTACCA	0.647			M		AML																																		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	1	Deletion - Frameshift(1)	ovary(1)	19											48.0	41.0	43.0					19																	45296791		2203	4300	6503	49988631	SO:0001589	frameshift_variant	23624			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1198delA	19.37:g.45296791delA	ENSP00000270279:p.Ser400fs	Somatic		Capture	Illumina GAIIx	PhaseIII	49988631	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Frame_Shift_Del	DEL	ENST00000270279.3	37	CCDS12643.1	DEL	11	WashU																																																																																				0.647	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		Frame_Shift_Del
