#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	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr17:7577114C>T	ENST00000269305.4	-	8	1013	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.C275Y|TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y	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	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	AGGACAGGCACAAACACGCAC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	17	GRCh37	CM076568|CM951234	TP53	M							71.0	61.0	64.0					17																	7577114		2203	4300	6503	7517839	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.824G>A	17.37:g.7577114C>T	ENSP00000269305:p.Cys275Tyr	Somatic		Capture	Illumina GAIIx	4	7517839	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	17	WashU	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605675	0.87157	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.997	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	Y	275;275;275;275;275;264;143	ENSP00000352610:C275Y;ENSP00000269305:C275Y;ENSP00000398846:C275Y;ENSP00000391127:C275Y;ENSP00000391478:C275Y;ENSP00000425104:C143Y	ENSP00000269305:C275Y	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
PRSS55	203074	genome.wustl.edu	37	8	10387120	10387120	+	Missense_Mutation	SNP	G	G	T			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr8:10387120G>T	ENST00000328655.3	+	2	298	c.258G>T	c.(256-258)caG>caT	p.Q86H	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.Q86H	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.Q86H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGAGTATTCAGGCAAGAAGTG	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											259.0	251.0	254.0					8																	10387120		2203	4300	6503	10424530	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.258G>T	8.37:g.10387120G>T	ENSP00000333003:p.Gln86His	Somatic		Capture	Illumina GAIIx	4	10424530	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	SNP	35	WashU	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862864	0.17178	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.89617	-2.54;-2.54	4.19	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.31177	N	0.008113	D	0.88771	0.6527	L	0.41573	1.285	0.35271	D	0.780466	D	0.89917	1.0	D	0.97110	1.0	D	0.86061	0.1532	10	0.09084	T	0.74	.	8.4266	0.32733	0.1066:0.0:0.8934:0.0	.	86	Q6UWB4	PRS55_HUMAN	H	86	ENSP00000333003:Q86H;ENSP00000430459:Q86H	ENSP00000333003:Q86H	Q	+	3	2	PRSS55	10424530	0.990000	0.36364	0.899000	0.35326	0.597000	0.36814	2.002000	0.40835	1.339000	0.45563	0.561000	0.74099	CAG		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		Missense_Mutation
PTPRO	5800	genome.wustl.edu	37	12	15654589	15654589	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr12:15654589G>A	ENST00000281171.4	+	5	1027	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I|PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	233					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.V233I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											52.0	53.0	53.0					12																	15654589		2203	4300	6503	15545856	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.697G>A	12.37:g.15654589G>A	ENSP00000281171:p.Val233Ile	Somatic		Capture	Illumina GAIIx	4	15545856	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	CCDS8675.1	SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029460	0.19512	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.04049	3.72;3.73	4.6	0.678	0.17969	.	0.377447	0.18908	N	0.127860	T	0.02047	0.0064	N	0.03608	-0.345	0.53005	D	0.999968	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.50311	-0.8843	10	0.45353	T	0.12	.	5.4273	0.16433	0.3631:0.0:0.5124:0.1245	.	233;233;233	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	I	233	ENSP00000281171:V233I;ENSP00000343434:V233I	ENSP00000281171:V233I	V	+	1	0	PTPRO	15545856	0.924000	0.31332	0.940000	0.37924	0.972000	0.66771	0.456000	0.21859	0.206000	0.20587	0.585000	0.79938	GTA		0.338	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			Missense_Mutation
PRDM9	56979	genome.wustl.edu	37	5	23527156	23527156	+	Silent	SNP	T	T	C	rs565855433		TCGA-13-0910-01	TCGA-13-0910-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr5:23527156T>C	ENST00000296682.3	+	11	2141	c.1959T>C	c.(1957-1959)acT>acC	p.T653T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	653					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.T653T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCCTCACTCACCAGAGGA	0.602										HNSCC(3;0.000094)			T|||	1	0.000199681	0.0008	0.0	5008	,	,		19417	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	5											14.0	14.0	14.0					5																	23527156		1309	2992	4301	23562913	SO:0001819	synonymous_variant	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1959T>C	5.37:g.23527156T>C		Somatic		Capture	Illumina GAIIx	4	23562913	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1	SNP	54	WashU																																																																																				0.602	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		Silent
ARNTL2	56938	genome.wustl.edu	37	12	27553514	27553514	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0910-01	TCGA-13-0910-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr12:27553514T>C	ENST00000266503.5	+	10	985	c.967T>C	c.(967-969)Tgg>Cgg	p.W323R	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.W238R|ARNTL2_ENST00000261178.5_Missense_Mutation_p.W275R|ARNTL2_ENST00000544915.1_Missense_Mutation_p.W289R|ARNTL2_ENST00000395901.2_Missense_Mutation_p.W286R|ARNTL2_ENST00000546179.1_Missense_Mutation_p.W286R|ARNTL2_ENST00000311001.5_Missense_Mutation_p.W309R			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	323					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W323R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTTGAGAAGCTGGCCTCCAAA	0.338																																																1	Substitution - Missense(1)	ovary(1)	12											75.0	78.0	77.0					12																	27553514		2203	4300	6503	27444781	SO:0001583	missense	56938			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.967T>C	12.37:g.27553514T>C	ENSP00000266503:p.Trp323Arg	Somatic		Capture	Illumina GAIIx	4	27444781	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	CCDS8712.1	SNP	55	WashU	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646774	0.67358	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388	T;T;T;T;T;T;T	0.08546	3.2;3.21;3.08;3.18;3.21;3.19;3.22	3.87	3.87	0.44632	.	0.070043	0.64402	D	0.000007	T	0.34308	0.0893	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.994;0.997;0.992;0.992;0.992;0.992	T	0.41998	-0.9477	10	0.87932	D	0	.	13.1695	0.59589	0.0:0.0:0.0:1.0	.	286;289;286;275;309;323	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	R	289;286;286;309;275;323;238	ENSP00000442438:W289R;ENSP00000379238:W286R;ENSP00000438545:W286R;ENSP00000312247:W309R;ENSP00000261178:W275R;ENSP00000266503:W323R;ENSP00000445836:W238R	ENSP00000261178:W275R	W	+	1	0	ARNTL2	27444781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.851000	0.75425	1.758000	0.51981	0.533000	0.62120	TGG		0.338	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		Missense_Mutation
LTBP1	4052	genome.wustl.edu	37	2	33477825	33477825	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr2:33477825C>T	ENST00000404816.2	+	11	2434	c.2081C>T	c.(2080-2082)tCt>tTt	p.S694F	LTBP1_ENST00000418533.2_Missense_Mutation_p.S368F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S368F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S368F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S368F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S694F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S368F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	694	TB 2.			S -> P (in Ref. 8; BP291349). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.S694F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCCTCTGTCTGTTCACCTC	0.542																																																1	Substitution - Missense(1)	ovary(1)	2											159.0	152.0	154.0					2																	33477825		2203	4300	6503	33331329	SO:0001583	missense	4052				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2081C>T	2.37:g.33477825C>T	ENSP00000386043:p.Ser694Phe	Somatic		Capture	Illumina GAIIx	4	33331329	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	SNP	32	WashU	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634305	0.87660	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	D;D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.48	5.48	0.80851	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	D	0.96309	0.8796	M	0.67397	2.05	0.80722	D	1	D;D;P;D;D;D	0.76494	0.999;0.992;0.917;0.992;0.983;0.998	D;D;P;D;P;D	0.73380	0.98;0.939;0.789;0.917;0.898;0.942	D	0.96477	0.9353	9	0.72032	D	0.01	.	19.3625	0.94446	0.0:1.0:0.0:0.0	.	694;368;368;368;368;694	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	694;694;368;368;368;368;368;50;11	ENSP00000386043:S694F;ENSP00000346467:S694F;ENSP00000374653:S368F;ENSP00000393057:S368F;ENSP00000384373:S368F;ENSP00000385359:S368F;ENSP00000384091:S368F;ENSP00000415412:S50F;ENSP00000417591:S11F	ENSP00000346467:S694F	S	+	2	0	LTBP1	33331329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.194000	0.77789	2.567000	0.86603	0.655000	0.94253	TCT		0.542	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		Missense_Mutation
ARMC12	221481	genome.wustl.edu	37	6	35715084	35715084	+	Missense_Mutation	SNP	C	C	T	rs372805979		TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr6:35715084C>T	ENST00000373866.3	+	4	513	c.491C>T	c.(490-492)aCg>aTg	p.T164M	ARMC12_ENST00000373869.3_Missense_Mutation_p.T164M|ARMC12_ENST00000288065.2_Missense_Mutation_p.T191M			Q5T9G4	ARM12_HUMAN	armadillo repeat containing 12	164						nucleus (GO:0005634)		p.T191M(2)									ATCTGGGACACGGAACTGCAC	0.537																																																2	Substitution - Missense(2)	ovary(1)|breast(1)	6						C	MET/THR	0,4406		0,0,2203	158.0	147.0	151.0		572	2.5	0.4	6		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf81	NM_145028.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	191/368	35715084	1,13005	2203	4300	6503	35823062	SO:0001583	missense	221481			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343		"""Armadillo repeat containing"""	21099	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 81"""	C6orf81			Standard	XM_005248920		Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.491C>T	6.37:g.35715084C>T	ENSP00000362973:p.Thr164Met	Somatic		Capture	Illumina GAIIx	4	35823062	Q8NEB2|Q96LL8	Missense_Mutation	SNP	ENST00000373866.3	37		SNP	19	WashU	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226347	0.22542	0.0	1.16E-4	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.30714	1.52;1.52;1.52	4.3	2.46	0.29980	.	0.949125	0.08657	N	0.912980	T	0.04724	0.0128	N	0.03608	-0.345	0.09310	N	1	B;B	0.19445	0.005;0.036	B;B	0.11329	0.004;0.006	T	0.41142	-0.9525	10	0.49607	T	0.09	-4.933	7.1355	0.25525	0.0:0.7781:0.0:0.2219	.	164;191	Q5T9G4-3;Q5T9G4-2	.;.	M	164;191;164	ENSP00000362976:T164M;ENSP00000288065:T191M;ENSP00000362973:T164M	ENSP00000288065:T191M	T	+	2	0	C6orf81	35823062	0.100000	0.21855	0.394000	0.26270	0.794000	0.44872	0.757000	0.26433	0.254000	0.21573	0.462000	0.41574	ACG		0.537	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040311.2	NM_145028		Missense_Mutation
ADAMTS20	80070	genome.wustl.edu	37	12	43821202	43821202	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr12:43821202G>C	ENST00000389420.3	-	27	4015	c.4016C>G	c.(4015-4017)gCt>gGt	p.A1339G	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1339G|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A457G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1339	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A1339G(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTAACTAGCACTTTGTCC	0.483																																																1	Substitution - Missense(1)	ovary(1)	12											121.0	90.0	100.0					12																	43821202		2203	4300	6503	42107469	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4016C>G	12.37:g.43821202G>C	ENSP00000374071:p.Ala1339Gly	Somatic		Capture	Illumina GAIIx	4	42107469	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	SNP	34	WashU	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551430	0.45487	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.94	4.94	0.65067	.	0.119378	0.37012	N	0.002294	T	0.54711	0.1875	L	0.33485	1.01	0.36986	D	0.894551	P;P	0.42296	0.755;0.775	P;P	0.52066	0.689;0.593	T	0.59632	-0.7418	10	0.42905	T	0.14	.	14.6439	0.68745	0.0:0.1458:0.8542:0.0	.	1339;457	P59510;E9PBD5	ATS20_HUMAN;.	G	1339;469;457;1339;1339	ENSP00000374071:A1339G;ENSP00000447427:A469G;ENSP00000378911:A457G;ENSP00000448341:A1339G	ENSP00000374068:A1339G	A	-	2	0	ADAMTS20	42107469	1.000000	0.71417	0.748000	0.31131	0.629000	0.37895	4.064000	0.57506	2.670000	0.90874	0.650000	0.86243	GCT		0.483	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		Missense_Mutation
ZBTB21	49854	genome.wustl.edu	37	21	43411450	43411450	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0910-01	TCGA-13-0910-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr21:43411450T>G	ENST00000310826.5	-	3	2938	c.2755A>C	c.(2755-2757)Acg>Ccg	p.T919P	ZBTB21_ENST00000398511.3_Missense_Mutation_p.T919P|ZBTB21_ENST00000398505.3_Missense_Mutation_p.T718P|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398499.1_Missense_Mutation_p.T919P	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	919					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.T919P(1)									TTATGCACCGTGAACATCTTC	0.537																																																1	Substitution - Missense(1)	ovary(1)	21											75.0	72.0	73.0					21																	43411450		2203	4300	6503	42284519	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2755A>C	21.37:g.43411450T>G	ENSP00000308759:p.Thr919Pro	Somatic		Capture	Illumina GAIIx	4	42284519	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	SNP	59	WashU	.	.	.	.	.	.	.	.	.	.	T	12.56	1.973908	0.34848	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.87	-4.59	0.03400	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.348037	0.28538	N	0.014984	T	0.33731	0.0873	L	0.45698	1.435	0.31700	N	0.640843	B;B	0.16166	0.001;0.016	B;B	0.16289	0.003;0.015	T	0.06058	-1.0848	10	0.46703	T	0.11	-3.5865	10.0238	0.42059	0.1509:0.0:0.2572:0.5919	.	718;919	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	P	718;919;919;919	ENSP00000381517:T718P;ENSP00000308759:T919P;ENSP00000381512:T919P;ENSP00000381523:T919P	ENSP00000308759:T919P	T	-	1	0	ZNF295	42284519	1.000000	0.71417	0.015000	0.15790	0.954000	0.61252	1.559000	0.36320	-1.140000	0.02877	0.533000	0.62120	ACG		0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		Missense_Mutation
B4GALT2	8704	genome.wustl.edu	37	1	44450970	44450970	+	Missense_Mutation	SNP	T	T	G			TCGA-13-0910-01	TCGA-13-0910-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr1:44450970T>G	ENST00000356836.6	+	5	1551	c.761T>G	c.(760-762)tTt>tGt	p.F254C	B4GALT2_ENST00000434555.2_Missense_Mutation_p.F188C|B4GALT2_ENST00000372324.1_Missense_Mutation_p.F254C|B4GALT2_ENST00000309519.7_Missense_Mutation_p.F283C|B4GALT2_ENST00000481924.1_3'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	254					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)	p.F254C(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GCTGGCTACTTTGGAGGTGTG	0.567																																																1	Substitution - Missense(1)	ovary(1)	1											99.0	93.0	95.0					1																	44450970		2203	4300	6503	44223557	SO:0001583	missense	8704			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.761T>G	1.37:g.44450970T>G	ENSP00000349293:p.Phe254Cys	Somatic		Capture	Illumina GAIIx	4	44223557	B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	CCDS506.1	SNP	64	WashU	.	.	.	.	.	.	.	.	.	.	T	23.7	4.453011	0.84209	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.46	5.46	0.80206	.	0.112119	0.64402	D	0.000009	D	0.93281	0.7859	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	D	0.94943	0.8093	10	0.87932	D	0	-1.5595	15.5368	0.76011	0.0:0.0:0.0:1.0	.	283;188;254	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	C	254;188;254;283	ENSP00000361399:F254C;ENSP00000407468:F188C;ENSP00000349293:F254C;ENSP00000310696:F283C	ENSP00000310696:F283C	F	+	2	0	B4GALT2	44223557	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.026000	0.88783	2.076000	0.62316	0.338000	0.21704	TTT		0.567	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		Missense_Mutation
TOM1L1	10040	genome.wustl.edu	37	17	52993155	52993155	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr17:52993155G>A	ENST00000575882.1	+	7	1005	c.652G>A	c.(652-654)Gtg>Atg	p.V218M	TOM1L1_ENST00000348161.4_Missense_Mutation_p.V141M|TOM1L1_ENST00000540336.1_Missense_Mutation_p.V106M|TOM1L1_ENST00000572158.1_Missense_Mutation_p.V211M|TOM1L1_ENST00000570371.1_Missense_Mutation_p.V218M|TOM1L1_ENST00000536554.1_Missense_Mutation_p.V141M|TOM1L1_ENST00000445275.2_Missense_Mutation_p.V218M|TOM1L1_ENST00000575333.1_Missense_Mutation_p.V218M|TOM1L1_ENST00000572405.1_Missense_Mutation_p.V183M	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	218	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.V218M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GAATGTGCGAGTGATGTCCGC	0.428																																																1	Substitution - Missense(1)	ovary(1)	17											227.0	203.0	211.0					17																	52993155		2203	4300	6503	50348154	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.652G>A	17.37:g.52993155G>A	ENSP00000460823:p.Val218Met	Somatic		Capture	Illumina GAIIx	4	50348154	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	CCDS11582.1	SNP	36	WashU	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187659	0.78789	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	6.17	4.17	0.49024	GAT (2);	0.000000	0.64402	D	0.000007	T	0.68933	0.3055	M	0.82323	2.585	0.46849	D	0.999221	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.74131	-0.3764	10	0.87932	D	0	-10.2287	11.8116	0.52185	0.1458:0.0:0.8542:0.0	.	106;211;141;218;218;141	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	M	218;106;141;141	ENSP00000408958:V218M;ENSP00000441242:V106M;ENSP00000343901:V141M;ENSP00000443099:V141M	ENSP00000343901:V141M	V	+	1	0	TOM1L1	50348154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.267000	0.65530	1.626000	0.50381	0.655000	0.94253	GTG		0.428	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		Missense_Mutation
RPS26P54	100131971	genome.wustl.edu	37	18	57428967	57428967	+	IGR	SNP	G	G	A	rs377031111		TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr18:57428967G>A								AC098847.1 (11978 upstream) : RP11-824M15.3 (59304 downstream)														p.D60N(1)									AAGCGTCTTCGATGCCTATGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	18																																								55579947	SO:0001628	intergenic_variant																																18.37:g.57428967G>A		Somatic		Capture	Illumina GAIIx	4	55579947		Missense_Mutation	SNP		37		SNP	37	WashU																																																																																			0	0.463									Missense_Mutation
LILRB4	11006	genome.wustl.edu	37	19	55179359	55179359	+	Silent	SNP	C	C	T	rs191773308		TCGA-13-0910-01	TCGA-13-0910-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr19:55179359C>T	ENST00000391736.1	+	14	1551	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	LILRB4_ENST00000391733.3_Silent_p.Y413Y|LILRB4_ENST00000270452.2_Silent_p.Y412Y|LILRB4_ENST00000430952.2_Silent_p.Y411Y|LILRB4_ENST00000391734.3_Silent_p.Y359Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	412					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.Y412Y(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATGTGACCTACGCCCAGCTGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15371	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	ovary(1)|lung(1)	19											77.0	82.0	80.0					19																	55179359		2203	4300	6503	59871171	SO:0001819	synonymous_variant	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1236C>T	19.37:g.55179359C>T		Somatic		Capture	Illumina GAIIx	4	59871171	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	ENST00000391736.1	37	CCDS12902.1	SNP	19	WashU																																																																																				0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			Silent
ZNF711	7552	genome.wustl.edu	37	X	84519372	84519372	+	Silent	SNP	G	G	A			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chrX:84519372G>A	ENST00000373165.3	+	5	1020	c.714G>A	c.(712-714)ggG>ggA	p.G238G	ZNF711_ENST00000542798.1_Silent_p.G34G|ZNF711_ENST00000276123.3_Silent_p.G238G|ZNF711_ENST00000360700.4_Silent_p.G238G|ZNF711_ENST00000395402.1_Silent_p.G216G	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	238					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.G218G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAGAAGATGGGTTTGGTTCTG	0.328																																																1	Substitution - coding silent(1)	ovary(1)	X											79.0	70.0	73.0					X																	84519372		2202	4297	6499	84406028	SO:0001819	synonymous_variant	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.714G>A	X.37:g.84519372G>A		Somatic		Capture	Illumina GAIIx	4	84406028	B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	CCDS35344.1	SNP	44	WashU																																																																																				0.328	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		Silent
ATP2B1	490	genome.wustl.edu	37	12	89995184	89995184	+	Silent	SNP	T	T	C			TCGA-13-0910-01	TCGA-13-0910-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr12:89995184T>C	ENST00000428670.3	-	19	3543	c.3087A>G	c.(3085-3087)aaA>aaG	p.K1029K	ATP2B1_ENST00000393164.2_Silent_p.K772K|ATP2B1_ENST00000359142.3_Silent_p.K1029K|ATP2B1_ENST00000261173.2_Silent_p.K1029K|ATP2B1_ENST00000348959.3_Intron			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1029					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K1029K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AACTGAAAGGTTTTCCACCAA	0.299																																																1	Substitution - coding silent(1)	ovary(1)	12											79.0	87.0	84.0					12																	89995184		2203	4299	6502	88519315	SO:0001819	synonymous_variant	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3087A>G	12.37:g.89995184T>C		Somatic		Capture	Illumina GAIIx	4	88519315	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	CCDS9035.1	SNP	60	WashU																																																																																				0.299	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		Silent
GPR98	84059	genome.wustl.edu	37	5	89925304	89925304	+	Nonsense_Mutation	SNP	T	T	A			TCGA-13-0910-01	TCGA-13-0910-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr5:89925304T>A	ENST00000405460.2	+	9	1883	c.1787T>A	c.(1786-1788)tTa>tAa	p.L596*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	596					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L596*(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACtacaaaattaccaataaga	0.353																																																1	Substitution - Nonsense(1)	ovary(1)	5											67.0	66.0	66.0					5																	89925304		1836	4087	5923	89961060	SO:0001587	stop_gained	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1787T>A	5.37:g.89925304T>A	ENSP00000384582:p.Leu596*	Somatic		Capture	Illumina GAIIx	4	89961060	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	SNP	61	WashU	.	.	.	.	.	.	.	.	.	.	T	40	8.446037	0.98815	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.52	5.52	0.82312	.	0.156544	0.44483	D	0.000450	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6442	0.77036	0.0:0.0:0.0:1.0	.	.	.	.	X	596	.	ENSP00000296619:L596X	L	+	2	0	GPR98	89961060	1.000000	0.71417	0.375000	0.26029	0.998000	0.95712	7.463000	0.80869	2.104000	0.64026	0.533000	0.62120	TTA		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		Nonsense_Mutation
ADRA2B	151	genome.wustl.edu	37	2	96781288	96781288	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr2:96781288G>A	ENST00000409345.3	-	1	696	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	201					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.R201C(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGTTGCTGCGTTTGGCGATC	0.617																																																1	Substitution - Missense(1)	ovary(1)	2											38.0	43.0	41.0					2																	96781288		2125	4247	6372	96145015	SO:0001583	missense	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.601C>T	2.37:g.96781288G>A	ENSP00000387281:p.Arg201Cys	Somatic		Capture	Illumina GAIIx	4	96145015	Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	CCDS56129.1	SNP	40	WashU	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871043	0.72065	.	.	ENSG00000222040	ENST00000409345	T	0.44482	0.92	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.76528	0.4000	H	0.97365	3.99	0.58432	D	0.999998	D	0.89917	1.0	D	0.75020	0.985	D	0.85095	0.0954	9	0.87932	D	0	.	16.0404	0.80679	0.0:0.0:1.0:0.0	.	201	P18089	ADA2B_HUMAN	C	201	ENSP00000387281:R201C	ENSP00000387281:R201C	R	-	1	0	ADRA2B	96145015	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.506000	0.45433	2.651000	0.90000	0.456000	0.33151	CGC		0.617	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			Missense_Mutation
KLHL32	114792	genome.wustl.edu	37	6	97533046	97533046	+	Silent	SNP	C	C	T			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr6:97533046C>T	ENST00000369261.4	+	6	819	c.456C>T	c.(454-456)gaC>gaT	p.D152D	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.D83D|KLHL32_ENST00000536676.1_Silent_p.D116D	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	152								p.D152D(2)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GACTTGCTGACCTCTTTAACC	0.383																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	6											122.0	120.0	121.0					6																	97533046		2203	4300	6503	97639767	SO:0001819	synonymous_variant	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.456C>T	6.37:g.97533046C>T		Somatic		Capture	Illumina GAIIx	4	97639767	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	CCDS5038.1	SNP	18	WashU																																																																																				0.383	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		Silent
ASCC3	10973	genome.wustl.edu	37	6	101054904	101054904	+	Missense_Mutation	SNP	T	T	C			TCGA-13-0910-01	TCGA-13-0910-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr6:101054904T>C	ENST00000369162.2	-	31	5190	c.4846A>G	c.(4846-4848)Ata>Gta	p.I1616V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1616	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.I1616V(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGCATTCCTATCCCGAAAGCA	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											103.0	93.0	97.0					6																	101054904		2202	4300	6502	101161625	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4846A>G	6.37:g.101054904T>C	ENSP00000358159:p.Ile1616Val	Somatic		Capture	Illumina GAIIx	4	101161625	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	SNP	50	WashU	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793379	0.70452	.	.	ENSG00000112249	ENST00000369162	T	0.73575	-0.76	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	N	0.20881	0.62	0.80722	D	1	D	0.58970	0.984	P	0.61477	0.889	T	0.65335	-0.6193	10	0.17369	T	0.5	.	15.9118	0.79477	0.0:0.0:0.0:1.0	.	1616	Q8N3C0	HELC1_HUMAN	V	1616	ENSP00000358159:I1616V	ENSP00000358159:I1616V	I	-	1	0	ASCC3	101161625	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	7.900000	0.87376	2.162000	0.67917	0.477000	0.44152	ATA		0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		Missense_Mutation
DMBT1	1755	genome.wustl.edu	37	10	124390771	124390771	+	Missense_Mutation	SNP	G	G	A	rs146475455	byFrequency	TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr10:124390771G>A	ENST00000338354.3	+	46	6039	c.5933G>A	c.(5932-5934)cGt>cAt	p.R1978H	DMBT1_ENST00000344338.3_Missense_Mutation_p.R1968H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1350H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1978H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1350H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R698H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1968H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1978	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R2107H(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTAATCATCGTGAAGATGCT	0.542													G|||	2	0.000399361	0.0	0.0	5008	,	,		20952	0.0		0.002	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)											1	Substitution - Missense(1)	ovary(1)	10						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4106		0,0,2053	144.0	139.0	140.0		4049,5933,5903	-5.4	0.0	10	dbSNP_134	140	1,8399		0,1,4199	yes	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	29,29,29	0,1,6252	AA,AG,GG		0.0119,0.0,0.0080	benign,benign,benign	1350/1786,1978/2414,1968/2404	124390771	1,12505	2053	4200	6253	124380761	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5933G>A	10.37:g.124390771G>A	ENSP00000342210:p.Arg1978His	Somatic		Capture	Illumina GAIIx	4	124380761	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		SNP	40	WashU	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	0.014	-1.579240	0.00879	0.0	1.19E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.56	-5.44	0.02624	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.31167	0.0788	N	0.10972	0.075	0.09310	N	1	B;P;B;B;B;B;D	0.69078	0.002;0.5;0.0;0.102;0.381;0.276;0.997	B;B;B;B;B;B;D	0.64877	0.003;0.074;0.0;0.057;0.024;0.082;0.93	T	0.15983	-1.0418	9	0.33940	T	0.23	.	2.9284	0.05792	0.3306:0.2826:0.2949:0.0919	.	698;1958;1227;2107;1350;1968;1978	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1978;2107;1978;1978;1978;1978;1350;1968;1350;1350;1978;1968;1350;124;698	ENSP00000342210:R1978H;ENSP00000343175:R1968H;ENSP00000327747:R1350H;ENSP00000357905:R1978H;ENSP00000357951:R1968H;ENSP00000357952:R1350H;ENSP00000352593:R698H	ENSP00000331522:R1350H	R	+	2	0	DMBT1	124380761	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.486000	0.00455	-0.993000	0.03467	-1.197000	0.01672	CGT		0.542	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		Missense_Mutation
MED12L	116931	genome.wustl.edu	37	3	151105723	151105723	+	Silent	SNP	C	C	T			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr3:151105723C>T	ENST00000474524.1	+	35	5147	c.5109C>T	c.(5107-5109)taC>taT	p.Y1703Y	MED12L_ENST00000273432.4_Silent_p.Y1563Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1703						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Y1703Y(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATCAAGTACGAGGAGCAGC	0.592																																																1	Substitution - coding silent(1)	ovary(1)	3											126.0	101.0	109.0					3																	151105723		2203	4300	6503	152588413	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5109C>T	3.37:g.151105723C>T		Somatic		Capture	Illumina GAIIx	4	152588413	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	CCDS33876.1	SNP	19	WashU																																																																																				0.592	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		Silent
PYHIN1	149628	genome.wustl.edu	37	1	158914826	158914826	+	Missense_Mutation	SNP	C	C	G			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr1:158914826C>G	ENST00000368140.1	+	7	1598	c.1353C>G	c.(1351-1353)ttC>ttG	p.F451L	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.F442L|PYHIN1_ENST00000392254.2_Missense_Mutation_p.F451L|PYHIN1_ENST00000392252.3_Missense_Mutation_p.F442L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	451					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.F451L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAGTTCCTTCACCAAGGTAC	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											134.0	135.0	135.0					1																	158914826		2203	4300	6503	157181450	SO:0001583	missense	149628			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1353C>G	1.37:g.158914826C>G	ENSP00000357122:p.Phe451Leu	Somatic		Capture	Illumina GAIIx	4	157181450	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	SNP	29	WashU	.	.	.	.	.	.	.	.	.	.	C	5.888	0.347894	0.11126	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.03860	3.78;3.82;3.85;3.84	1.88	-2.69	0.06022	.	.	.	.	.	T	0.01061	0.0035	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.46775	-0.9167	9	0.66056	D	0.02	.	4.1377	0.10179	0.29:0.5144:0.0:0.1956	.	442;451;442;451	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	L	451;442;451;442	ENSP00000357122:F451L;ENSP00000357120:F442L;ENSP00000376083:F451L;ENSP00000376082:F442L	ENSP00000357120:F442L	F	+	3	2	PYHIN1	157181450	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-0.741000	0.04855	-0.752000	0.04728	-0.459000	0.05422	TTC		0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		Missense_Mutation
BCHE	590	genome.wustl.edu	37	3	165547427	165547427	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr3:165547427C>A	ENST00000264381.3	-	2	1561	c.1395G>T	c.(1393-1395)atG>atT	p.M465I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	465					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.M465I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATAGCCATGCATCACTCCCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	3											96.0	99.0	98.0					3																	165547427		2203	4300	6503	167030121	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1395G>T	3.37:g.165547427C>A	ENSP00000264381:p.Met465Ile	Somatic		Capture	Illumina GAIIx	4	167030121	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	SNP	25	WashU	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268300	0.23136	.	.	ENSG00000114200	ENST00000264381	D	0.95137	-3.62	5.52	5.52	0.82312	Carboxylesterase, type B (1);	0.038402	0.85682	D	0.000000	D	0.90848	0.7125	L	0.28776	0.89	0.80722	D	1	B	0.17852	0.024	B	0.26969	0.075	D	0.86535	0.1824	10	0.15066	T	0.55	.	18.4281	0.90615	0.0:1.0:0.0:0.0	.	465	P06276	CHLE_HUMAN	I	465	ENSP00000264381:M465I	ENSP00000264381:M465I	M	-	3	0	BCHE	167030121	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	0.285000	0.18883	2.605000	0.88082	0.591000	0.81541	ATG		0.398	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			Missense_Mutation
RARS	5917	genome.wustl.edu	37	5	167929075	167929075	+	Missense_Mutation	SNP	G	G	C			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr5:167929075G>C	ENST00000231572.3	+	9	1076	c.1022G>C	c.(1021-1023)aGg>aCg	p.R341T	RARS_ENST00000538719.1_Missense_Mutation_p.R135T	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	341				R -> G (in Ref. 4; BAD96517). {ECO:0000305}.	arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.R341T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TATCAAGATAGGATGAATGAT	0.313																																																1	Substitution - Missense(1)	ovary(1)	5											103.0	112.0	109.0					5																	167929075		2203	4296	6499	167861653	SO:0001583	missense	5917			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1022G>C	5.37:g.167929075G>C	ENSP00000231572:p.Arg341Thr	Somatic		Capture	Illumina GAIIx	4	167861653	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	CCDS4367.1	SNP	35	WashU	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337477	0.24253	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.64803	-0.12;-0.12	5.14	3.35	0.38373	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.189492	0.52532	D	0.000066	T	0.56352	0.1979	L	0.53729	1.69	0.41055	D	0.985334	B	0.14012	0.009	B	0.16722	0.016	T	0.51260	-0.8728	10	0.26408	T	0.33	-1.0907	14.1517	0.65389	0.0:0.0:0.5442:0.4558	.	341	P54136	SYRC_HUMAN	T	341;135	ENSP00000231572:R341T;ENSP00000439108:R135T	ENSP00000231572:R341T	R	+	2	0	RARS	167861653	0.993000	0.37304	1.000000	0.80357	0.986000	0.74619	0.385000	0.20685	0.665000	0.31066	-0.127000	0.14921	AGG		0.313	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		Missense_Mutation
NRROS	375387	genome.wustl.edu	37	3	196387496	196387496	+	Missense_Mutation	SNP	G	G	A			TCGA-13-0910-01	TCGA-13-0910-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr3:196387496G>A	ENST00000328557.4	+	3	1185	c.982G>A	c.(982-984)Gca>Aca	p.A328T		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	328					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A328T(1)									CAGCGACCTCGCAGATCTCCG	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											99.0	98.0	99.0					3																	196387496		2203	4300	6503	197871893	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.982G>A	3.37:g.196387496G>A	ENSP00000328625:p.Ala328Thr	Somatic		Capture	Illumina GAIIx	4	197871893		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	SNP	38	WashU	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393264	0.42410	.	.	ENSG00000174004	ENST00000328557	T	0.00816	5.66	6.08	-2.69	0.06022	.	0.452097	0.25711	N	0.028813	T	0.00580	0.0019	N	0.05414	-0.055	0.80722	D	1	B	0.16802	0.019	B	0.16722	0.016	T	0.58148	-0.7687	10	0.18710	T	0.47	.	12.1608	0.54103	0.0:0.0623:0.5746:0.363	.	328	Q86YC3	LRC33_HUMAN	T	328	ENSP00000328625:A328T	ENSP00000328625:A328T	A	+	1	0	LRRC33	197871893	0.991000	0.36638	0.005000	0.12908	0.920000	0.55202	0.936000	0.28938	-0.686000	0.05170	-0.266000	0.10368	GCA		0.597	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		Missense_Mutation
SFMBT2	57713	genome.wustl.edu	37	10	7205761	7205761	+	Missense_Mutation	SNP	C	C	A			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr10:7205761C>A	ENST00000361972.4	-	21	2746	c.2656G>T	c.(2656-2658)Gtg>Ttg	p.V886L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.V886L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	886	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.V886L(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TAGAAAGCCACTTTGACTCTC	0.557																																																1	Substitution - Missense(1)	ovary(1)	10											108.0	90.0	96.0					10																	7205761		2203	4300	6503	7245767	SO:0001583	missense	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2656G>T	10.37:g.7205761C>A	ENSP00000355109:p.Val886Leu	Somatic		Capture	Illumina GAIIx	4	7245767	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	SNP	20	WashU	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064222	0.55432	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.20463	2.07;2.07	5.61	5.61	0.85477	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.12182	0.205	0.80722	D	1	B	0.17465	0.022	B	0.12156	0.007	T	0.12604	-1.0541	10	0.09338	T	0.73	.	15.9421	0.79763	0.0:0.8651:0.1349:0.0	.	886	Q5VUG0	SMBT2_HUMAN	L	886	ENSP00000355109:V886L;ENSP00000380353:V886L	ENSP00000355109:V886L	V	-	1	0	SFMBT2	7245767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.636000	0.89361	0.655000	0.94253	GTG		0.557	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		Missense_Mutation
ANKRD29	147463	genome.wustl.edu	37	18	21214110	21214110	+	Missense_Mutation	SNP	C	C	T			TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr18:21214110C>T	ENST00000592179.1	-	5	488	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	ANKRD29_ENST00000284207.7_Missense_Mutation_p.G112R|ANKRD29_ENST00000322980.9_Missense_Mutation_p.G112R	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	112			G -> E (in dbSNP:rs17855552). {ECO:0000269|PubMed:15489334}.					p.G112R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGGTGCCCCCGTCCTATGGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	18											80.0	63.0	69.0					18																	21214110		2203	4300	6503	19468108	SO:0001583	missense	147463			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.334G>A	18.37:g.21214110C>T	ENSP00000468354:p.Gly112Arg	Somatic		Capture	Illumina GAIIx	4	19468108	B2R972|Q6ZWE8|Q96LU9	Missense_Mutation	SNP	ENST00000592179.1	37	CCDS11879.1	SNP	23	WashU	.	.	.	.	.	.	.	.	.	.	C	19.77	3.890053	0.72524	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	T;D	0.86297	-0.76;-2.1	5.66	5.66	0.87406	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.93903	0.8049	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93881	0.7171	10	0.66056	D	0.02	.	18.8957	0.92423	0.0:1.0:0.0:0.0	.	112;112	Q8N6D5-3;Q8N6D5	.;ANR29_HUMAN	R	112	ENSP00000323387:G112R;ENSP00000284207:G112R	ENSP00000284207:G112R	G	-	1	0	ANKRD29	19468108	1.000000	0.71417	0.945000	0.38365	0.167000	0.22549	6.746000	0.74866	2.832000	0.97577	0.655000	0.94253	GGG		0.498	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505		Missense_Mutation
HCRTR2	3062	genome.wustl.edu	37	6	55120033	55120033	+	Missense_Mutation	SNP	C	C	T	rs141639071		TCGA-13-0910-01	TCGA-13-0910-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA	1	dbGAP	Illumina GAIIx	TCGA-13-0910-01	TCGA-13-0910-10	g.chr6:55120033C>T	ENST00000370862.3	+	3	838	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	168					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACAGCAAAGCGGGCCCGTAA	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15556	0.0		0.0	False		,,,				2504	0.0															2	Substitution - Missense(2)	urinary_tract(1)|ovary(1)	6											175.0	146.0	155.0					6																	55120033		2203	4300	6503	55227992	SO:0001583	missense	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.502C>T	6.37:g.55120033C>T	ENSP00000359899:p.Arg168Trp	Somatic		Capture	Illumina GAIIx	4	55227992	Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	CCDS4956.1	SNP	27	WashU	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.87	3.242027	0.58995	.	.	ENSG00000137252	ENST00000370862	T	0.41065	1.01	5.05	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76236	-0.3033	10	0.66056	D	0.02	.	15.097	0.72242	0.636:0.364:0.0:0.0	.	168;168	Q548Y0;O43614	.;OX2R_HUMAN	W	168	ENSP00000359899:R168W	ENSP00000359899:R168W	R	+	1	2	HCRTR2	55227992	0.459000	0.25768	0.942000	0.38095	0.918000	0.54935	-0.172000	0.09868	-0.108000	0.12066	-0.466000	0.05196	CGG		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			Missense_Mutation
