#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_BAM_File	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_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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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
OR2AT4	341152	hgsc.bcm.edu	37	11	74800084	74800084	+	Silent	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:74800084G>A	ENST00000305159.3	-	1	715	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGCCAGGATGTGGACATAGG	0.592																																						.											0													43.0	43.0	43.0					11																	74800084		2200	4293	6493	SO:0001819	synonymous_variant	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.675C>T	11.37:g.74800084G>A			B9EGZ8	Silent	SNP	ENST00000305159.3	37	CCDS31639.1																																																																																				0.592	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
FEZ1	9638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	125359542	125359542	+	Silent	SNP	G	G	A	rs558361561	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:125359542G>A	ENST00000278919.3	-	2	366	c.132C>T	c.(130-132)tcC>tcT	p.S44S	FEZ1_ENST00000366139.3_Silent_p.S44S|FEZ1_ENST00000524435.1_Silent_p.S44S	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	44					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCAAGCTCGGAGAGGGAGG	0.502													G|||	4	0.000798722	0.0	0.0	5008	,	,		18287	0.001		0.0	False		,,,				2504	0.0031				Melanoma(180;509 2033 10762 15939 24711)	.											0													64.0	70.0	68.0					11																	125359542		2201	4299	6500	SO:0001819	synonymous_variant	9638			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.132C>T	11.37:g.125359542G>A			O00679|O00728|Q6IBI7	Silent	SNP	ENST00000278919.3	37	CCDS31716.1																																																																																				0.502	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	
TP53	7157	hgsc.bcm.edu;bcgsc.ca	37	17	7577543	7577543	+	Missense_Mutation	SNP	C	C	A	rs397516437		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:7577543C>A	ENST00000269305.4	-	7	927	c.738G>T	c.(736-738)atG>atT	p.M246I	TP53_ENST00000455263.2_Missense_Mutation_p.M246I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M246I|TP53_ENST00000413465.2_Missense_Mutation_p.M246I|TP53_ENST00000445888.2_Missense_Mutation_p.M246I|TP53_ENST00000420246.2_Missense_Mutation_p.M246I	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	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.M246I(24)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)	GCCTCCGGTTCATGCCGCCCA	0.572		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"""	43	Substitution - Missense(24)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Deletion - Frameshift(3)	upper_aerodigestive_tract(8)|biliary_tract(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|liver(1)|lung(1)|skin(1)|pancreas(1)											152.0	113.0	126.0					17																	7577543		2203	4300	6503	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.738G>T	17.37:g.7577543C>A	ENSP00000269305:p.Met246Ile		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	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604664	0.87157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	4.62	4.62	0.57501	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	0.99468	0.9811	L	0.33624	1.015	0.80722	D	1	P;B;B;D;P;D	0.76494	0.895;0.098;0.057;0.969;0.474;0.999	D;B;B;D;P;D	0.83275	0.931;0.24;0.082;0.959;0.865;0.996	D	0.97709	1.0189	10	0.87932	D	0	-28.5667	15.3618	0.74483	0.0:1.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246I;ENSP00000352610:M246I;ENSP00000269305:M246I;ENSP00000398846:M246I;ENSP00000391127:M246I;ENSP00000391478:M246I;ENSP00000425104:M114I;ENSP00000423862:M153I	ENSP00000269305:M246I	M	-	3	0	TP53	7518268	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
OR10H2	26538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	15839690	15839690	+	Silent	SNP	C	C	T	rs141193809	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:15839690C>T	ENST00000305899.3	+	1	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCACCACCTACGCAGTCCTCA	0.532													c|||	5	0.000998403	0.0	0.0	5008	,	,		21943	0.004		0.001	False		,,,				2504	0.0					.											0													129.0	107.0	114.0					19																	15839690		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.837C>T	19.37:g.15839690C>T			Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.532	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1		
SYNDIG1	79953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	24646034	24646034	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr20:24646034G>A	ENST00000376862.3	+	4	1304	c.671G>A	c.(670-672)cGg>cAg	p.R224Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	224					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACCAGCTCCCGGCGGGCCCTA	0.587																																						.											0													124.0	135.0	132.0					20																	24646034		2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.671G>A	20.37:g.24646034G>A	ENSP00000366058:p.Arg224Gln		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	37	5.981175	0.97168	.	.	ENSG00000101463	ENST00000376862	D	0.86497	-2.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90420	0.4416	10	0.51188	T	0.08	-38.2043	17.4359	0.87552	0.0:0.0:1.0:0.0	.	224	Q9H7V2	SYNG1_HUMAN	Q	224	ENSP00000366058:R224Q	ENSP00000366058:R224Q	R	+	2	0	SYNDIG1	24594034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.529000	0.98049	2.714000	0.92807	0.561000	0.74099	CGG		0.587	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893	
GPR35	2859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	241570087	241570087	+	Missense_Mutation	SNP	C	C	T	rs377190882		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:241570087C>T	ENST00000319838.5	+	6	1660	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	GPR35_ENST00000430267.1_Missense_Mutation_p.R240C|GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	240					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCTGACAGTGCGCCTCGCAGT	0.667																																						.											0													99.0	82.0	88.0					2																	241570087		2203	4300	6503	SO:0001583	missense	2859				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.718C>T	2.37:g.241570087C>T	ENSP00000322731:p.Arg240Cys		J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923480	0.52653	.	.	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	3.64	-0.654	0.11443	GPCR, rhodopsin-like superfamily (1);	1.214260	0.05886	U	0.627409	T	0.79155	0.4398	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68483	0.95;0.958;0.943	T	0.64952	-0.6286	10	0.56958	D	0.05	-3.0998	8.1112	0.30916	0.0:0.6526:0.0:0.3474	.	325;271;240	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	C	240;240;271;240;240	ENSP00000322731:R240C;ENSP00000385140:R240C;ENSP00000415890:R271C;ENSP00000384263:R240C;ENSP00000411788:R240C	ENSP00000322731:R240C	R	+	1	0	GPR35	241218760	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.668000	0.05268	-0.235000	0.09767	0.305000	0.20034	CGC		0.667	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382	
HRH1	3269	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	11301062	11301062	+	Silent	SNP	G	G	A	rs201790628	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:11301062G>A	ENST00000397056.1	+	3	530	c.339G>A	c.(337-339)gcG>gcA	p.A113A	HRH1_ENST00000431010.2_Silent_p.A113A|HRH1_ENST00000438284.2_Silent_p.A113A	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	113					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)	p.A113A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCAGCACAGCGTCCATTTTCA	0.542													G|||	6	0.00119808	0.0	0.0	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.0061					.											1	Substitution - coding silent(1)	large_intestine(1)											215.0	208.0	210.0					3																	11301062		2203	4300	6503	SO:0001819	synonymous_variant	3269				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.339G>A	3.37:g.11301062G>A			A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	CCDS2604.1																																																																																				0.542	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2		
FBXL5	26234	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	15640143	15640143	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr4:15640143T>C	ENST00000341285.3	-	4	695	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FBXL5_ENST00000382358.4_Missense_Mutation_p.K65E|FBXL5_ENST00000412094.2_Missense_Mutation_p.K174E	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	191					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTATCTGACTTTTCATCCACG	0.353																																						.											0													57.0	55.0	56.0					4																	15640143		2203	4300	6503	SO:0001583	missense	26234			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.571A>G	4.37:g.15640143T>C	ENSP00000344866:p.Lys191Glu		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.583921|4.583921	0.86748|0.86748	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066|ENST00000513163	T;T;T|.	0.33654|.	1.45;1.46;1.4|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57330|0.57330	0.2046|0.2046	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.78314|.	0.991;0.98|.	T|T	0.53906|0.53906	-0.8372|-0.8372	10|6	0.46703|.	T|.	0.11|.	-22.038|-22.038	15.8847|15.8847	0.79238|0.79238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	174;191|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	E|R	191;174;65;153|111	ENSP00000344866:K191E;ENSP00000408679:K174E;ENSP00000371795:K65E|.	ENSP00000344866:K191E|.	K|K	-|-	1|2	0|0	FBXL5|FBXL5	15249241|15249241	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.055000|6.055000	0.71103|0.71103	2.209000|2.209000	0.71365|0.71365	0.528000|0.528000	0.53228|0.53228	AAG|AAA		0.353	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
GGCT	79017	hgsc.bcm.edu	37	7	30544237	30544238	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:30544237_30544238delCT	ENST00000275428.4	-	1	222_223	c.88_89delAG	c.(88-90)aggfs	p.R30fs	GGCT_ENST00000005374.6_Frame_Shift_Del_p.R30fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.R30fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409436.1_Frame_Shift_Del_p.R30fs|GGCT_ENST00000409144.1_Frame_Shift_Del_p.R30fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	30					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGGTGGATCCTCTCTGTCAGC	0.644																																						.											0																																										SO:0001589	frameshift_variant	79017			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.88_89delAG	7.37:g.30544241_30544242delCT	ENSP00000275428:p.Arg30fs		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	CCDS5428.1																																																																																				0.644	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051	
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	11907890	11907890	+	Splice_Site	SNP	T	T	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:11907890T>A	ENST00000256720.2	+	3	287	c.194T>A	c.(193-195)gTt>gAt	p.V65D	LPIN1_ENST00000396098.1_Splice_Site_p.V71D|LPIN1_ENST00000449576.2_Splice_Site_p.V114D|LPIN1_ENST00000425416.2_Splice_Site_p.V71D|MIR548S_ENST00000581352.1_RNA|LPIN1_ENST00000396099.1_Splice_Site_p.V71D	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	65	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCCCTTCAGGTTGACATAGAA	0.423																																						.											0													103.0	101.0	102.0					2																	11907890		2203	4300	6503	SO:0001630	splice_region_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.193-1T>A	2.37:g.11907890T>A			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568823	0.86439	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000441684	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.89	4.89	0.63831	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.94838	0.8002	10	0.87932	D	0	-17.684	14.814	0.70017	0.0:0.0:0.0:1.0	.	114;65;71	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	D	114;71;71;71;65;65	ENSP00000397908:V114D;ENSP00000379405:V71D;ENSP00000379406:V71D;ENSP00000401522:V71D;ENSP00000256720:V65D;ENSP00000412578:V65D	ENSP00000256720:V65D	V	+	2	0	LPIN1	11825341	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.898000	0.87363	1.947000	0.56498	0.533000	0.62120	GTT		0.423	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	Missense_Mutation
CSMD2	114784	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	34037290	34037290	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:34037290T>C	ENST00000373381.4	-	51	7975	c.7799A>G	c.(7798-7800)gAg>gGg	p.E2600G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2602	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGGCCATGCTCCACGCTGAT	0.473																																						.											0													95.0	86.0	89.0					1																	34037290		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7799A>G	1.37:g.34037290T>C	ENSP00000362479:p.Glu2600Gly		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222722	0.79464	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.057747	0.64402	D	0.000002	T	0.73869	0.3642	M	0.62154	1.92	0.80722	D	1	D;D	0.60575	0.976;0.988	D;D	0.64877	0.93;0.93	T	0.73852	-0.3852	10	0.39692	T	0.17	.	13.9546	0.64140	0.0:0.0:0.0:1.0	.	2602;2600	Q7Z408;E7EUA6	CSMD2_HUMAN;.	G	2600	ENSP00000362479:E2600G	ENSP00000241312:E2602G	E	-	2	0	CSMD2	33809877	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.198000	0.72106	1.900000	0.55004	0.460000	0.39030	GAG		0.473	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
LHX8	431707	broad.mit.edu	37	1	75622672	75622672	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:75622672T>C	ENST00000294638.5	+	9	1569	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LHX8_ENST00000356261.3_Missense_Mutation_p.L292P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	302					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CCCTCCAGGCTGTCTCCACCC	0.507																																						.											0													255.0	222.0	233.0					1																	75622672		2203	4300	6503	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.905T>C	1.37:g.75622672T>C	ENSP00000294638:p.Leu302Pro		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955095	0.73902	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87179	-2.22;-2.2	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.91167	0.4965	10	0.72032	D	0.01	.	15.2331	0.73407	0.0:0.0:0.0:1.0	.	302	Q68G74	LHX8_HUMAN	P	302;292	ENSP00000294638:L302P;ENSP00000348597:L292P	ENSP00000294638:L302P	L	+	2	0	LHX8	75395260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.020000	0.76419	2.067000	0.61834	0.374000	0.22700	CTG		0.507	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933	
KIFAP3	22920	broad.mit.edu	37	1	170004687	170004687	+	Silent	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:170004687G>A	ENST00000361580.2	-	6	752	c.525C>T	c.(523-525)gcC>gcT	p.A175A	KIFAP3_ENST00000367765.1_Silent_p.A135A|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000367767.1_Silent_p.A131A|KIFAP3_ENST00000538366.1_Silent_p.A97A	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	175					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGCACCAAGGGCAGTTTCTA	0.368																																						.											0													53.0	55.0	55.0					1																	170004687		2203	4300	6503	SO:0001819	synonymous_variant	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.525C>T	1.37:g.170004687G>A			B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	CCDS1288.1																																																																																				0.368	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	
ADAMTS14	140766	broad.mit.edu	37	10	72496471	72496471	+	Silent	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:72496471C>T	ENST00000373207.1	+	10	1521	c.1521C>T	c.(1519-1521)tgC>tgT	p.C507C	ADAMTS14_ENST00000373208.1_Silent_p.C510C	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	507	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGCTGTGGTGCAGCCATCCTG	0.587																																						.											0													98.0	85.0	89.0					10																	72496471		2203	4300	6503	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1521C>T	10.37:g.72496471C>T			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																				0.587	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
MUC2	4583	broad.mit.edu	37	11	1092624	1092624	+	Silent	SNP	C	C	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1092624C>A	ENST00000441003.2	+	30	4470	c.4443C>A	c.(4441-4443)acC>acA	p.T1481T	MUC2_ENST00000359061.5_Silent_p.T1482T|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4216	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gccctccaaccaccactccca	0.627																																						.											0													223.0	336.0	297.0					11																	1092624		1558	2939	4497	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4443C>A	11.37:g.1092624C>A			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.627	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
GYLTL1B	120071	broad.mit.edu	37	11	45945039	45945039	+	Missense_Mutation	SNP	A	A	G	rs200481274	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:45945039A>G	ENST00000531526.1	+	3	412	c.301A>G	c.(301-303)Atc>Gtc	p.I101V	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.I101V|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.I70V|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.I70V|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.I101V	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	101					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCATGTGGCCATCGTGTGTGC	0.642													A|||	3	0.000599042	0.0023	0.0	5008	,	,		14666	0.0		0.0	False		,,,				2504	0.0					.											0													125.0	101.0	109.0					11																	45945039		2203	4299	6502	SO:0001583	missense	120071				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.301A>G	11.37:g.45945039A>G	ENSP00000432869:p.Ile101Val		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	CCDS31473.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	12.92	2.082391	0.36758	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.39592	1.07;1.09;1.09;1.09;1.07	5.41	1.6	0.23607	.	0.529195	0.20424	N	0.092620	T	0.25791	0.0628	L	0.31926	0.97	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.22880	0.042;0.02	T	0.05099	-1.0906	10	0.12766	T	0.61	-13.0566	6.0892	0.19985	0.6788:0.0:0.0699:0.2513	.	70;101	E9PIZ2;Q8N3Y3	.;LARG2_HUMAN	V	70;101;101;101;70	ENSP00000431932:I70V;ENSP00000432869:I101V;ENSP00000385235:I101V;ENSP00000324570:I101V;ENSP00000445044:I70V	ENSP00000324570:I101V	I	+	1	0	GYLTL1B	45901615	0.066000	0.20996	1.000000	0.80357	0.664000	0.39144	1.170000	0.31883	0.345000	0.23873	-0.333000	0.08304	ATC		0.642	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
RCOR2	283248	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	63681937	63681937	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:63681937A>G	ENST00000301459.4	-	6	944	c.557T>C	c.(556-558)aTg>aCg	p.M186T	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	186					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CTGTCTGTCCATCACACTAGT	0.602																																						.											0													60.0	72.0	68.0					11																	63681937		2200	4297	6497	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.557T>C	11.37:g.63681937A>G	ENSP00000301459:p.Met186Thr		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740239	0.69304	.	.	ENSG00000167771	ENST00000301459	T	0.28895	1.59	4.37	4.37	0.52481	.	0.046931	0.85682	D	0.000000	T	0.54029	0.1833	M	0.84082	2.675	0.80722	D	1	D	0.54601	0.967	P	0.60789	0.879	T	0.61860	-0.6976	10	0.72032	D	0.01	.	12.8973	0.58106	1.0:0.0:0.0:0.0	.	186	Q8IZ40	RCOR2_HUMAN	T	186	ENSP00000301459:M186T	ENSP00000301459:M186T	M	-	2	0	RCOR2	63438513	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.404000	0.79996	1.749000	0.51849	0.459000	0.35465	ATG		0.602	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
CEP57	9702	broad.mit.edu	37	11	95561021	95561021	+	Silent	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:95561021A>G	ENST00000325542.5	+	9	1195	c.957A>G	c.(955-957)aaA>aaG	p.K319K	CEP57_ENST00000541150.1_Silent_p.K310K|CEP57_ENST00000325486.5_Silent_p.K293K|CEP57_ENST00000537677.1_Silent_p.K292K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	319	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACACAGTAAAGCTTTGTGCA	0.423									Mosaic Variegated Aneuploidy Syndrome																													.											0													165.0	151.0	156.0					11																	95561021		2201	4298	6499	SO:0001819	synonymous_variant	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.957A>G	11.37:g.95561021A>G			A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Silent	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	A	6.608	0.480636	0.12581	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.85	3.55	0.40652	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53585	-0.8418	4	.	.	.	-12.1297	9.8436	0.41013	0.8007:0.0:0.1993:0.0	.	.	.	.	G	109	.	.	S	+	1	0	CEP57	95200669	1.000000	0.71417	0.869000	0.34112	0.641000	0.38312	1.953000	0.40352	0.484000	0.27630	0.383000	0.25322	AGC		0.423	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679	
SETD1A	9739	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	30990508	30990508	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr16:30990508C>G	ENST00000262519.8	+	14	4087	c.3401C>G	c.(3400-3402)cCa>cGa	p.P1134R		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1134	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTGCGTCCCCCAGAACCACCT	0.682																																						.											0													8.0	9.0	8.0					16																	30990508		2120	4233	6353	SO:0001583	missense	9739			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3401C>G	16.37:g.30990508C>G	ENSP00000262519:p.Pro1134Arg		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	1.780	-0.482257	0.04383	.	.	ENSG00000099381	ENST00000262519	D	0.94376	-3.41	5.03	3.07	0.35406	.	0.432061	0.22293	N	0.061961	D	0.89643	0.6774	M	0.61703	1.905	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.81965	-0.0691	10	0.66056	D	0.02	.	4.1573	0.10266	0.1617:0.579:0.0:0.2592	.	1134	O15047	SET1A_HUMAN	R	1134	ENSP00000262519:P1134R	ENSP00000262519:P1134R	P	+	2	0	SETD1A	30898009	0.000000	0.05858	0.692000	0.30179	0.179000	0.23085	0.663000	0.25053	0.522000	0.28464	-0.252000	0.11476	CCA		0.682	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
MYO15A	51168	broad.mit.edu	37	17	18025035	18025035	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:18025035C>T	ENST00000205890.5	+	2	3259	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	974					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGCCATCCCCCACCCTCCAG	0.657																																						.											0													16.0	18.0	17.0					17																	18025035		1917	4121	6038	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2921C>T	17.37:g.18025035C>T	ENSP00000205890:p.Pro974Leu		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.642537	0.29246	.	.	ENSG00000091536	ENST00000205890	D	0.86562	-2.14	4.11	1.96	0.26148	.	.	.	.	.	T	0.75686	0.3883	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.65467	-0.6161	9	0.72032	D	0.01	.	5.0866	0.14687	0.2025:0.6831:0.0:0.1144	.	974	Q9UKN7	MYO15_HUMAN	L	974	ENSP00000205890:P974L	ENSP00000205890:P974L	P	+	2	0	MYO15A	17965760	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.561000	0.23515	0.716000	0.32124	0.455000	0.32223	CCC		0.657	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
PEG3	5178	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	57327003	57327003	+	Missense_Mutation	SNP	C	C	T	rs140722468		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:57327003C>T	ENST00000326441.9	-	10	3170	c.2807G>A	c.(2806-2808)cGt>cAt	p.R936H	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R810H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R936H|PEG3_ENST00000598410.1_Missense_Mutation_p.R812H|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	936					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTTAGCACGAGCCTTCTG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20637	0.001		0.0	False		,,,				2504	0.0					.											0													128.0	126.0	127.0					19																	57327003		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2807G>A	19.37:g.57327003C>T	ENSP00000326581:p.Arg936His		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.94	1.492123	0.26774	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02890	4.12;4.12	3.99	3.99	0.46301	.	0.000000	0.47852	D	0.000214	T	0.08268	0.0206	M	0.68593	2.085	.	.	.	P;D;D	0.89917	0.663;1.0;1.0	B;D;D	0.85130	0.185;0.997;0.997	T	0.11941	-1.0567	9	0.02654	T	1	-28.6785	7.7783	0.29049	0.0:0.8895:0.0:0.1105	.	812;936;871	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	936	ENSP00000326581:R936H;ENSP00000403051:R936H	ENSP00000326581:R936H	R	-	2	0	ZIM2	62018815	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.539000	0.85634	0.655000	0.94253	CGT		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
CELSR3	1951	broad.mit.edu	37	3	48697290	48697290	+	Silent	SNP	G	G	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:48697290G>T	ENST00000164024.4	-	1	3058	c.2778C>A	c.(2776-2778)acC>acA	p.T926T	CELSR3_ENST00000544264.1_Silent_p.T926T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	926	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAGGGTGTAGGTCACCTGGT	0.522																																						.											0													152.0	131.0	138.0					3																	48697290		2203	4300	6503	SO:0001819	synonymous_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2778C>A	3.37:g.48697290G>T			O75092	Silent	SNP	ENST00000164024.4	37	CCDS2775.1																																																																																				0.522	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
RHOA	387	broad.mit.edu	37	3	49395482	49395482	+	IGR	SNP	G	G	C	rs201944086	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:49395482G>C	ENST00000418115.1	-	0	2031				GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000419783.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGGTTGCACGGGAAGCCGAG	0.726																																						.											0													11.0	14.0	13.0					3																	49395482		1848	4061	5909	SO:0001628	intergenic_variant	2876			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395482G>C			P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745728	0.96882	.	.	ENSG00000233276	ENST00000419783;ENST00000419349	T;T	0.25085	1.82;1.82	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.93150	3.385	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.68483	0.958;0.891	T	0.72279	-0.4340	10	0.87932	D	0	.	18.8152	0.92075	0.0:0.0:1.0:0.0	.	77;77	E9PAS1;P07203	.;GPX1_HUMAN	R	77	ENSP00000407375:P77R;ENSP00000391316:P77R	ENSP00000391316:P77R	P	-	2	0	GPX1	49370486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.875000	0.87205	2.788000	0.95919	0.555000	0.69702	CCG		0.726	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
ZBBX	79740	broad.mit.edu	37	3	167039952	167039952	+	Silent	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:167039952T>C	ENST00000392766.2	-	12	1276	c.936A>G	c.(934-936)gaA>gaG	p.E312E	ZBBX_ENST00000455345.2_Silent_p.E312E|ZBBX_ENST00000392764.1_Silent_p.E283E|ZBBX_ENST00000392767.2_Silent_p.E312E|ZBBX_ENST00000307529.5_Silent_p.E312E|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	312						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATAGAATGTCTTCTTTAAGTT	0.279																																						.											0													67.0	64.0	65.0					3																	167039952		1789	4037	5826	SO:0001819	synonymous_variant	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.936A>G	3.37:g.167039952T>C			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
MUC4	4585	broad.mit.edu	37	3	195513481	195513481	+	Missense_Mutation	SNP	G	G	A	rs77462830	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:195513481G>A	ENST00000463781.3	-	2	5429	c.4970C>T	c.(4969-4971)gCa>gTa	p.A1657V	MUC4_ENST00000475231.1_Missense_Mutation_p.A1657V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGG	0.592																																						.											0													25.0	29.0	28.0					3																	195513481		690	1579	2269	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4970C>T	3.37:g.195513481G>A	ENSP00000417498:p.Ala1657Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.927	-0.017005	0.07681	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30714	1.52;1.54	0.595	-1.19	0.09585	.	.	.	.	.	T	0.15478	0.0373	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27673	-1.0067	8	.	.	.	.	5.0084	0.14300	0.7673:0.0:0.2327:0.0	.	1657	E7ESK3	.	V	1657	ENSP00000417498:A1657V;ENSP00000420243:A1657V	.	A	-	2	0	MUC4	196997876	0.002000	0.14202	0.003000	0.11579	0.017000	0.09413	-0.367000	0.07553	-1.380000	0.02115	-1.783000	0.00646	GCA		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
EVC2	132884	broad.mit.edu	37	4	5564754	5564754	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr4:5564754C>T	ENST00000344408.5	-	22	3801	c.3748G>A	c.(3748-3750)Ggc>Agc	p.G1250S	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.G1170S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1250					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCCAGTTCGCCAATGGGCTCC	0.443																																						.											0													127.0	135.0	132.0					4																	5564754		2203	4300	6503	SO:0001583	missense	132884			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3748G>A	4.37:g.5564754C>T	ENSP00000342144:p.Gly1250Ser		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239915	0.39598	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74526	-0.85;-0.85	5.17	4.32	0.51571	.	1.259860	0.05622	N	0.580176	T	0.56804	0.2010	N	0.12746	0.255	0.23936	N	0.996416	B	0.28605	0.217	B	0.21151	0.033	T	0.42882	-0.9425	10	0.27785	T	0.31	-17.1361	8.6563	0.34066	0.0:0.898:0.0:0.102	.	1250	Q86UK5	LBN_HUMAN	S	1170;1250	ENSP00000311683:G1170S;ENSP00000342144:G1250S	ENSP00000311683:G1170S	G	-	1	0	EVC2	5615655	0.059000	0.20769	0.029000	0.17559	0.953000	0.61014	2.258000	0.43249	2.430000	0.82344	0.563000	0.77884	GGC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
CDC25C	995	broad.mit.edu	37	5	137666827	137666827	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr5:137666827A>G	ENST00000323760.6	-	2	321	c.43T>C	c.(43-45)Tct>Cct	p.S15P	CDC25C_ENST00000514555.1_Missense_Mutation_p.S15P|CDC25C_ENST00000415130.2_Missense_Mutation_p.S15P|CDC25C_ENST00000357274.3_Missense_Mutation_p.S15P|CDC25C_ENST00000348983.3_Missense_Mutation_p.S15P|CDC25C_ENST00000513970.1_Missense_Mutation_p.S15P|CDC25C_ENST00000356505.3_Missense_Mutation_p.S15P	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	15					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTGAGCCAGAGCTTCCTTCC	0.458																																						.											0													90.0	86.0	87.0					5																	137666827		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.43T>C	5.37:g.137666827A>G	ENSP00000321656:p.Ser15Pro		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	A	8.444	0.851558	0.17034	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T;T;T;T	0.23754	2.51;2.52;1.95;1.95;1.95;2.51;2.52;1.9;1.89	4.14	-0.563	0.11778	.	1.422790	0.04401	N	0.364291	T	0.07908	0.0198	N	0.01003	-1.06	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.001;0.0;0.0	T	0.18777	-1.0326	10	0.39692	T	0.17	12.7295	1.0632	0.01605	0.2141:0.4083:0.1758:0.2018	.	32;15;32;15;15;15	G3V1P6;P30307-3;B4DX61;P30307-2;P30307-4;P30307	.;.;.;.;.;MPIP3_HUMAN	P	15;15;15;15;15;15;32;15;15;32	ENSP00000321656:S15P;ENSP00000348898:S15P;ENSP00000349821:S15P;ENSP00000345205:S15P;ENSP00000392631:S15P;ENSP00000424795:S15P;ENSP00000425470:S15P;ENSP00000427251:S15P;ENSP00000427105:S32P	ENSP00000321656:S15P	S	-	1	0	CDC25C	137694726	0.000000	0.05858	0.000000	0.03702	0.673000	0.39480	-0.013000	0.12678	-0.090000	0.12462	0.533000	0.62120	TCT		0.458	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1		
DST	667	broad.mit.edu;bcgsc.ca	37	6	56417323	56417323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:56417323C>A	ENST00000361203.3	-	57	15641	c.15634G>T	c.(15634-15636)Gaa>Taa	p.E5212*	DST_ENST00000421834.2_Nonsense_Mutation_p.E3126*|DST_ENST00000370788.2_Nonsense_Mutation_p.E3126*|DST_ENST00000370754.5_Nonsense_Mutation_p.E5392*|DST_ENST00000370769.4_Nonsense_Mutation_p.E5214*|DST_ENST00000244364.6_Nonsense_Mutation_p.E2800*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.E4888*			Q03001	DYST_HUMAN	dystonin	5212					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTATAGTTTCCTTTTGCTTT	0.413																																						.											0													56.0	53.0	54.0					6																	56417323		1865	4086	5951	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15634G>T	6.37:g.56417323C>A	ENSP00000354508:p.Glu5212*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	55	24.898192	0.99962	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	6.17	4.1	0.47936	.	0.483231	0.18277	N	0.146130	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.1406	0.31080	0.0:0.6774:0.1268:0.1958	.	.	.	.	X	2800;5392;5214;3126;4888;3126;5212	.	ENSP00000244364:E2800X	E	-	1	0	DST	56525282	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	2.104000	0.41815	1.625000	0.50366	0.655000	0.94253	GAA		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
BAZ1B	9031	broad.mit.edu	37	7	72863961	72863961	+	Silent	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:72863961A>G	ENST00000339594.4	-	15	3977	c.3639T>C	c.(3637-3639)tgT>tgC	p.C1213C	BAZ1B_ENST00000404251.1_Silent_p.C1213C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1213					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGGCCTCAGACAAAACAGGT	0.517																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													92.0	85.0	87.0					7																	72863961		2203	4300	6503	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3639T>C	7.37:g.72863961A>G			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.517	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
GRM3	2913	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	86479693	86479693	+	Missense_Mutation	SNP	C	C	T	rs376384427		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:86479693C>T	ENST00000361669.2	+	5	3498	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M	GRM3_ENST00000546348.1_Missense_Mutation_p.T392M|GRM3_ENST00000439827.1_Silent_p.D444D|GRM3_ENST00000536043.1_Missense_Mutation_p.T672M|GRM3_ENST00000394720.2_Silent_p.D442D	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	800					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TAGGTGCAGACGACAACCATG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21863	0.0		0.0	False		,,,				2504	0.001				GBM(52;969 1098 3139 52280)	.											0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	218.0	150.0	173.0		2399	6.0	1.0	7		173	0,8600		0,0,4300	no	missense	GRM3	NM_000840.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	800/880	86479693	1,13005	2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2399C>T	7.37:g.86479693C>T	ENSP00000355316:p.Thr800Met		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545246	0.86022	2.27E-4	0.0	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88818	-2.43;-2.43;-2.43	5.97	5.97	0.96955	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.97110	0.861;1.0;0.999	D	0.93124	0.6527	10	0.62326	D	0.03	.	19.4162	0.94700	0.0:1.0:0.0:0.0	.	392;672;800	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	M	800;392;672	ENSP00000355316:T800M;ENSP00000444064:T392M;ENSP00000441407:T672M	ENSP00000355316:T800M	T	+	2	0	GRM3	86317629	1.000000	0.71417	0.972000	0.41901	0.785000	0.44390	6.077000	0.71275	2.837000	0.97791	0.655000	0.94253	ACG		0.453	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
PTPRN2	5799	broad.mit.edu;bcgsc.ca	37	7	157449123	157449123	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:157449123G>A	ENST00000389418.4	-	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R691C|PTPRN2_ENST00000409483.1_Missense_Mutation_p.R670C|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R679C|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R731C	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	708					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCGCTGCTGCGTGCGGAGGGG	0.662																																						.											0													73.0	60.0	65.0					7																	157449123		2174	4259	6433	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2122C>T	7.37:g.157449123G>A	ENSP00000374069:p.Arg708Cys		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	g	15.09	2.731049	0.48939	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03524	3.92;3.95;3.91;3.91;3.9	4.19	3.29	0.37713	.	0.000000	0.64402	U	0.000017	T	0.16685	0.0401	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.996;0.987;0.996;0.997;0.99	T	0.00494	-1.1706	10	0.87932	D	0	.	13.598	0.62002	0.0:0.0:0.8433:0.1567	.	731;670;679;691;708	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	C	670;679;691;708;731	ENSP00000387114:R670C;ENSP00000374064:R679C;ENSP00000374067:R691C;ENSP00000374069:R708C;ENSP00000385464:R731C	ENSP00000374064:R679C	R	-	1	0	PTPRN2	157141884	1.000000	0.71417	0.328000	0.25416	0.041000	0.13682	5.015000	0.64035	0.857000	0.35407	0.444000	0.29173	CGC		0.662	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
TRAPPC9	83696	broad.mit.edu	37	8	141321473	141321473	+	Splice_Site	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr8:141321473T>C	ENST00000438773.2	-	10	1629	c.1496A>G	c.(1495-1497)gAa>gGa	p.E499G	TRAPPC9_ENST00000389327.3_Splice_Site_p.E490G|TRAPPC9_ENST00000389328.4_Splice_Site_p.E597G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	499					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATCTTTCTTTTCTGAAGAGAA	0.493																																						.											0													82.0	82.0	82.0					8																	141321473		2203	4300	6503	SO:0001630	splice_region_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1496-1A>G	8.37:g.141321473T>C			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317407	0.81469	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.73217	2.22	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.79393	-0.1822	9	0.52906	T	0.07	.	15.6142	0.76753	0.0:0.0:0.0:1.0	.	499;490;597	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	G	597;490;499	.	ENSP00000373978:E490G	E	-	2	0	TRAPPC9	141390655	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	6.822000	0.75277	2.230000	0.72887	0.454000	0.30748	GAA		0.493	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466	Missense_Mutation
CR1	1378	ucsc.edu;bcgsc.ca	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						.											19	Substitution - Nonsense(19)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)											103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
PAPLN	89932	ucsc.edu	37	14	73721711	73721711	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:73721711T>C	ENST00000554301.1	+	13	1775	c.1612T>C	c.(1612-1614)Tgt>Cgt	p.C538R	PAPLN_ENST00000340738.5_Missense_Mutation_p.C511R|PAPLN_ENST00000381166.3_Missense_Mutation_p.C538R|PAPLN_ENST00000427855.1_Missense_Mutation_p.C538R|PAPLN_ENST00000555445.1_Missense_Mutation_p.C538R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	538	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CACGCAGCCCTGTCATCTCCC	0.642																																						.											0													35.0	35.0	35.0					14																	73721711		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1612T>C	14.37:g.73721711T>C	ENSP00000451803:p.Cys538Arg		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	T	14.56	2.571985	0.45798	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12	4.55	4.55	0.56014	.	.	.	.	.	D	0.99527	0.9831	H	0.99415	4.555	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.70016	0.944;0.967;0.963	D	0.97673	1.0168	9	0.87932	D	0	.	14.063	0.64810	0.0:0.0:0.0:1.0	.	538;538;511	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	511;538;538;538;538	ENSP00000345395:C511R;ENSP00000403403:C538R;ENSP00000370558:C538R;ENSP00000451803:C538R;ENSP00000451729:C538R	ENSP00000216658:C538R	C	+	1	0	PAPLN	72791464	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	7.084000	0.76866	1.901000	0.55032	0.533000	0.62120	TGT		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	
ULK4	54986	ucsc.edu	37	3	41860994	41860994	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:41860994T>C	ENST00000301831.4	-	19	2231	c.1769A>G	c.(1768-1770)gAa>gGa	p.E590G		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	590					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTTTTTTTTTCTTCCTAAAA	0.438																																						.											0													56.0	57.0	57.0					3																	41860994		1851	4087	5938	SO:0001583	missense	54986			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1769A>G	3.37:g.41860994T>C	ENSP00000301831:p.Glu590Gly		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.755948	0.49362	.	.	ENSG00000168038	ENST00000301831	T	0.63913	-0.07	5.16	2.71	0.32032	Armadillo-like helical (1);Armadillo-type fold (2);	0.944419	0.08785	U	0.894149	T	0.67126	0.2860	L	0.43152	1.355	0.80722	D	1	D;D	0.63880	0.987;0.993	P;P	0.57776	0.827;0.827	T	0.55566	-0.8121	10	0.59425	D	0.04	.	8.1235	0.30984	0.2111:0.064:0.0:0.7249	.	590;590	B4E2M4;Q96C45	.;ULK4_HUMAN	G	590	ENSP00000301831:E590G	ENSP00000301831:E590G	E	-	2	0	ULK4	41835998	1.000000	0.71417	0.989000	0.46669	0.647000	0.38526	2.072000	0.41510	0.041000	0.15688	-2.530000	0.00182	GAA		0.438	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
ADRA2B	151	mdanderson.org	37	2	96780986	96780986	+	Silent	SNP	C	C	T	rs4426564|rs60083507|rs28365031|rs34667759|rs29000568	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:96780986C>T	ENST00000409345.3	-	1	998	c.903G>A	c.(901-903)gaG>gaA	p.E301E		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	301	Asp/Glu-rich (acidic).				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)			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)	cctcctcctcctcctcctctt	0.657														1245	0.248602	0.3517	0.1873	5008	,	,		17797	0.1766		0.2028	False		,,,				2504	0.274					.											0													11.0	14.0	13.0					2																	96780986		2095	4198	6293	SO:0001819	synonymous_variant	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.903G>A	2.37:g.96780986C>T			Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	CCDS56129.1																																																																																				0.657	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1		
AHNAK2	113146	mdanderson.org	37	14	105412138	105412138	+	Missense_Mutation	SNP	A	A	G	rs200384326		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:105412138A>G	ENST00000333244.5	-	7	9769	c.9650T>C	c.(9649-9651)cTc>cCc	p.L3217P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3217						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCTCCCTCGAGAACGTGGCC	0.602																																						.											0													112.0	72.0	85.0					14																	105412138		1914	4004	5918	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9650T>C	14.37:g.105412138A>G	ENSP00000353114:p.Leu3217Pro		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	2.736	-0.263306	0.05754	.	.	ENSG00000185567	ENST00000333244	T	0.00554	6.64	2.59	2.59	0.31030	.	.	.	.	.	T	0.00178	0.0005	N	0.00128	-2.045	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.17837	-1.0356	8	0.30078	T	0.28	.	5.3502	0.16032	0.1716:0.0:0.8284:0.0	.	3217	Q8IVF2	AHNK2_HUMAN	P	3217	ENSP00000353114:L3217P	ENSP00000353114:L3217P	L	-	2	0	AHNAK2	104483183	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.587000	0.05780	0.297000	0.22615	-0.971000	0.02607	CTC		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
ANKRD20A5P	440482	mdanderson.org	37	18	14183979	14183979	+	RNA	SNP	G	G	A	rs74732432	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr18:14183979G>A	ENST00000581935.1	+	0	668							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						GGAACATGGTGCCAATCCAAA	0.448																																						.											0													93.0	93.0	93.0					18																	14183979		2201	4296	6497			440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183979G>A			Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																					0.448	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
ARHGAP5	394	mdanderson.org;bcgsc.ca	37	14	32561340	32561340	+	Missense_Mutation	SNP	G	G	A	rs78337553		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:32561340G>A	ENST00000345122.3	+	2	1780	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E489K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E489K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E489K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	489	FF 4.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E489K(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAAGAAGAGTTTCAAGA	0.343																																					NSCLC(9;77 350 3443 29227 41353)	.											1	Substitution - Missense(1)	stomach(1)											60.0	61.0	61.0					14																	32561340		2203	4298	6501	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1465G>A	14.37:g.32561340G>A	ENSP00000371897:p.Glu489Lys		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741262	0.69304	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	6.02	6.02	0.97574	FF domain (2);	0.044905	0.85682	D	0.000000	T	0.39009	0.1062	N	0.22421	0.69	0.80722	D	1	P;P	0.42296	0.734;0.775	P;P	0.52066	0.562;0.689	T	0.11060	-1.0603	10	0.62326	D	0.03	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	489;489	Q13017-2;Q13017	.;RHG05_HUMAN	K	489	ENSP00000452222:E489K;ENSP00000441692:E489K;ENSP00000371897:E489K;ENSP00000393307:E489K	ENSP00000371897:E489K	E	+	1	0	ARHGAP5	31631091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAG		0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
ATP8B3	148229	mdanderson.org	37	19	1789556	1789556	+	Silent	SNP	C	C	T	rs12978609	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:1789556C>T	ENST00000310127.6	-	23	2887	c.2649G>A	c.(2647-2649)caG>caA	p.Q883Q	ATP8B3_ENST00000539485.1_Silent_p.Q893Q|ATP8B3_ENST00000525591.1_Silent_p.Q846Q	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	883					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGGAGTCCTGGGCTGGCG	0.706													.|||	1551	0.309704	0.2988	0.2882	5008	,	,		7109	0.4395		0.2515	False		,,,				2504	0.2658					.											0								C	,	1059,2769		176,707,1031	7.0	9.0	9.0		2538,2649	-4.6	0.0	19	dbSNP_121	9	1989,6143		269,1451,2346	no	coding-synonymous,coding-synonymous	ATP8B3	NM_001178002.1,NM_138813.2	,	445,2158,3377	TT,TC,CC		24.4589,27.6646,25.4849	,	846/1264,883/1301	1789556	3048,8912	1914	4066	5980	SO:0001819	synonymous_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2649G>A	19.37:g.1789556C>T			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	CCDS45901.1																																																																																				0.706	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813	
ST20	400410	mdanderson.org	37	15	80215597	80215597	+	Intron	SNP	G	G	T	rs2303824	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr15:80215597G>T	ENST00000485386.1	-	1	251				C15ORF37_ENST00000542003.1_Missense_Mutation_p.A27S|C15orf37_ENST00000560255.1_3'UTR|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron			Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTATTCGTCCGCCTCGGGTCC	0.706													G|||	696	0.138978	0.0295	0.1931	5008	,	,		13305	0.0506		0.2247	False		,,,				2504	0.2515					.											0																																										SO:0001627	intron_variant	283687			AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000485386.1:c.10+196C>A	15.37:g.80215597G>T				RNA	SNP	ENST00000485386.1	37	CCDS42067.1	307	0.14056776556776557	24	0.04878048780487805	73	0.20165745856353592	30	0.05244755244755245	180	0.23746701846965698	G	3.992	-0.004362	0.07773	.	.	ENSG00000257028	ENST00000542003	.	.	.	1.8	-0.328	0.12690	.	.	.	.	.	T	0.00039	0.0001	.	.	.	0.09310	P	0.99999999820179	.	.	.	.	.	.	T	0.18335	-1.0340	4	0.87932	D	0	.	9.6231	0.39734	0.0:0.6605:0.3395:0.0	rs2303824;rs17214561;rs2303824	.	.	.	S	27	.	ENSP00000440412:A27S	A	+	1	0	AC015871.2	78002652	0.008000	0.16893	0.563000	0.28383	0.012000	0.07955	0.924000	0.28777	-0.083000	0.12618	-0.676000	0.03789	GCC		0.706	ST20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416729.1		
CDC27	996	mdanderson.org	37	17	45234664	45234664	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr17:45234664C>T	ENST00000066544.3	-	6	655	c.562G>A	c.(562-564)Gta>Ata	p.V188I	CDC27_ENST00000446365.2_Missense_Mutation_p.V127I|CDC27_ENST00000527547.1_Missense_Mutation_p.V188I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V188I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGATTAGGTACTTGTGTTGTG	0.383																																						.											0													68.0	69.0	68.0					17																	45234664		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.562G>A	17.37:g.45234664C>T	ENSP00000066544:p.Val188Ile		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	8.291	0.817763	0.16607	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.22;-0.22;0.05;-0.23;0.88	5.39	3.38	0.38709	.	0.290713	0.33364	N	0.004987	T	0.42131	0.1189	N	0.08118	0	0.37885	D	0.930507	B;B;B;B	0.13145	0.004;0.007;0.001;0.0	B;B;B;B	0.10450	0.002;0.005;0.002;0.001	T	0.32134	-0.9918	10	0.17369	T	0.5	-14.5769	10.538	0.45016	0.0:0.8363:0.0:0.1637	.	127;188;188;188	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	188;188;127;188;188	ENSP00000066544:V188I;ENSP00000434614:V188I;ENSP00000392802:V127I;ENSP00000437339:V188I;ENSP00000432105:V188I	ENSP00000066544:V188I	V	-	1	0	CDC27	42589663	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.765000	0.55272	1.285000	0.44548	-0.157000	0.13467	GTA		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
DENND4B	9909	mdanderson.org	37	1	153907297	153907297	+	Silent	SNP	C	C	T	rs557071025|rs544489048	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:153907297C>T	ENST00000361217.4	-	18	3130	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	904	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgctgctgtt	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		16455	0.0		0.0	False		,,,				2504	0.001					.											0													28.0	36.0	33.0					1																	153907297		2179	4277	6456	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2712G>A	1.37:g.153907297C>T			Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																				0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
DENND4B	9909	mdanderson.org	37	1	153907306	153907306	+	Silent	SNP	T	T	C	rs2275483|rs375088543|rs557071025	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:153907306T>C	ENST00000361217.4	-	18	3121	c.2703A>G	c.(2701-2703)caA>caG	p.Q901Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	901	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q789Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgttgctgctgct	0.647													T|||	552	0.110224	0.0582	0.1441	5008	,	,		16993	0.1627		0.0378	False		,,,				2504	0.1769					.											2	Substitution - coding silent(2)	prostate(2)						T		25,4345		2,21,2162	31.0	40.0	37.0		2703	2.1	1.0	1	dbSNP_120	37	106,8456		7,92,4182	no	coding-synonymous	DENND4B	NM_014856.2		9,113,6344	CC,CT,TT		1.238,0.5721,1.013		901/1497	153907306	131,12801	2185	4281	6466	SO:0001819	synonymous_variant	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2703A>G	1.37:g.153907306T>C			Q5T4K0	Silent	SNP	ENST00000361217.4	37	CCDS44228.1																																																																																				0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
CR1	1378	mdanderson.org	37	1	207787796	207787796	+	Missense_Mutation	SNP	T	T	C	rs61822976		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:207787796T>C	ENST00000367049.4	+	40	6623	c.6623T>C	c.(6622-6624)aTg>aCg	p.M2208T	CR1_ENST00000367052.1_Missense_Mutation_p.M1758T|CR1_ENST00000367053.1_Missense_Mutation_p.M1758T|CR1_ENST00000367051.1_Missense_Mutation_p.M1758T|CR1_ENST00000400960.2_Missense_Mutation_p.M1758T	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1758					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.M1758T(1)|p.M2208T(1)|p.M1763T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGCTGGAATGAAAGCCCTT	0.408																																						.											3	Substitution - Missense(3)	prostate(3)											128.0	121.0	123.0					1																	207787796		1882	4112	5994	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6623T>C	1.37:g.207787796T>C	ENSP00000356016:p.Met2208Thr		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	3.803	-0.041226	0.07452	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.29	-5.87	0.02297	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.09335	0.0230	N	0.20986	0.625	0.09310	N	1	B;P	0.46457	0.043;0.878	B;B	0.42422	0.009;0.387	T	0.19614	-1.0300	9	0.18276	T	0.48	.	1.2481	0.01977	0.4109:0.0944:0.2677:0.2271	rs61822976	1758;2208	P17927;E9PDY4	CR1_HUMAN;.	T	1758;1758;1758;1758;2208	ENSP00000356019:M1758T;ENSP00000356018:M1758T;ENSP00000356020:M1758T;ENSP00000383744:M1758T;ENSP00000356016:M2208T	ENSP00000356016:M2208T	M	+	2	0	CR1	205854419	0.002000	0.14202	0.000000	0.03702	0.554000	0.35429	-0.327000	0.07955	-0.793000	0.04475	0.358000	0.22013	ATG		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
FAM21C	253725	mdanderson.org	37	10	46265032	46265032	+	Missense_Mutation	SNP	A	A	G	rs373466053	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:46265032A>G	ENST00000336378.4	+	20	2117	c.1999A>G	c.(1999-2001)Aaa>Gaa	p.K667E	FAM21C_ENST00000537517.1_Missense_Mutation_p.K645E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K669E|FAM21C_ENST00000374362.2_Missense_Mutation_p.K669E|FAM21C_ENST00000359860.4_Missense_Mutation_p.K611E	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	667					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.K666E(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAGGAAGACAAAGAAGATGA	0.488													.|||	6	0.00119808	0.0023	0.0	5008	,	,		18194	0.002		0.001	False		,,,				2504	0.0					.											1	Substitution - Missense(1)	lung(1)											290.0	267.0	274.0					10																	46265032		1898	4114	6012	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1999A>G	10.37:g.46265032A>G	ENSP00000337541:p.Lys667Glu		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37		.	.	.	.	.	.	.	.	.	.	G	5.738	0.320585	0.10845	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	2.37	0.29283	.	0.382886	0.28834	N	0.013995	T	0.08358	0.0208	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.35151	-0.9800	9	0.10377	T	0.69	-5.3687	5.9012	0.18967	0.256:0.0:0.744:0.0	.	645;669;667;612	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	E	667;669;645;669;669;611;581	.	ENSP00000337541:K667E	K	+	1	0	FAM21C	45585038	0.963000	0.33076	0.052000	0.19188	0.508000	0.34012	1.585000	0.36600	0.234000	0.21139	-0.231000	0.12243	AAA		0.488	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
FCGR3A	2214	mdanderson.org	37	1	161599643	161599643	+	Intron	SNP	T	T	C	rs147574249	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:161599643T>C	ENST00000540048.1	-	2	94				FCGR3B_ENST00000367964.2_Missense_Mutation_p.N82D|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.N118D|FCGR3B_ENST00000294800.3_Missense_Mutation_p.N82D			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCACTGTCGTTGACTGTGGCA	0.537													t|||	1420	0.283546	0.3328	0.2709	5008	,	,		10033	0.4177		0.1332	False		,,,				2504	0.2423					.											0													94.0	104.0	101.0					1																	161599643		1988	4137	6125	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+514A>G	1.37:g.161599643T>C			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37		138|138	0.06318681318681318|0.06318681318681318	30|30	0.06097560975609756|0.06097560975609756	21|21	0.058011049723756904|0.058011049723756904	70|70	0.12237762237762238|0.12237762237762238	17|17	0.022427440633245383|0.022427440633245383	t|t	6.560|6.560	0.471594|0.471594	0.12461|0.12461	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.12147|.	2.71;2.71;2.71;2.71|.	2.79|2.79	-5.57|-5.57	0.02521|0.02521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	1.165540|.	0.06257|.	N|.	0.693161|.	T|T	0.03136|0.03136	0.0092|0.0092	N|N	0.03930|0.03930	-0.32|-0.32	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34054|0.34054	-0.9844|-0.9844	10|5	0.40728|.	T|.	0.16|.	.|.	6.7925|6.7925	0.23707|0.23707	0.0:0.1697:0.1395:0.6908|0.0:0.1697:0.1395:0.6908	.|.	82|.	O75015|.	FCG3B_HUMAN|.	D|R	82;82;118;65|102	ENSP00000356941:N82D;ENSP00000294800:N82D;ENSP00000433642:N118D;ENSP00000437084:N65D|.	ENSP00000294800:N82D|.	N|Q	-|-	1|2	0|0	FCGR3B|FCGR3B	159866267|159866267	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-3.414000|-3.414000	0.00479|0.00479	-1.905000|-1.905000	0.01090|0.01090	-0.575000|-0.575000	0.04146|0.04146	AAC|CAA		0.537	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569	
GXYLT1	283464	mdanderson.org	37	12	42512817	42512817	+	Silent	SNP	A	A	G	rs201566551		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323																																						.											0													71.0	64.0	66.0					12																	42512817		1859	4097	5956	SO:0001819	synonymous_variant	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.471T>C	12.37:g.42512817A>G			B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	CCDS41772.1																																																																																				0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597	
IGSF3	3321	mdanderson.org	37	1	117158745	117158745	+	Missense_Mutation	SNP	A	A	C	rs373093989		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:117158745A>C	ENST00000369486.3	-	3	1143	c.378T>G	c.(376-378)gaT>gaG	p.D126E	IGSF3_ENST00000318837.6_Missense_Mutation_p.D126E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D126E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	126	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D126E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGTATTGCTTATCAGTGCTGG	0.498																																						.											1	Substitution - Missense(1)	skin(1)											61.0	55.0	57.0					1																	117158745		2203	4300	6503	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.378T>G	1.37:g.117158745A>C	ENSP00000358498:p.Asp126Glu		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	8.319	0.823848	0.16678	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.65364	-0.15;-0.15;-0.15	4.63	-8.69	0.00855	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109427	0.64402	N	0.000011	T	0.34250	0.0891	M	0.69523	2.12	0.30895	N	0.729963	B;B	0.10296	0.003;0.002	B;B	0.20384	0.015;0.029	T	0.06481	-1.0824	10	0.66056	D	0.02	-9.8434	10.4193	0.44341	0.1981:0.2275:0.5744:0.0	.	126;126	O75054;A6NJZ6	IGSF3_HUMAN;.	E	126	ENSP00000358498:D126E;ENSP00000358495:D126E;ENSP00000321184:D126E	ENSP00000321184:D126E	D	-	3	2	IGSF3	116960268	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-2.110000	0.01334	-1.801000	0.01245	0.454000	0.30748	GAT		0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
KNDC1	85442	mdanderson.org	37	10	135000148	135000148	+	Silent	SNP	T	T	C	rs3810965	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:135000148T>C	ENST00000304613.3	+	6	1317	c.1296T>C	c.(1294-1296)gcT>gcC	p.A432A	KNDC1_ENST00000368572.2_Silent_p.A432A|KNDC1_ENST00000368571.2_Silent_p.A367A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	432					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGAAGGAGCTAGGCAGCTGG	0.667													c|||	2087	0.416733	0.118	0.3847	5008	,	,		13870	0.5764		0.4354	False		,,,				2504	0.6595					.											0										719,3683		63,593,1545	26.0	32.0	30.0		1296	-4.2	0.0	10	dbSNP_107	30	3956,4636		925,2106,1265	no	coding-synonymous	KNDC1	NM_152643.6		988,2699,2810	CC,CT,TT		46.0428,16.3335,35.9781		432/1750	135000148	4675,8319	2201	4296	6497	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1296T>C	10.37:g.135000148T>C			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	CCDS7674.1																																																																																				0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
KNDC1	85442	mdanderson.org	37	10	135000159	135000159	+	Missense_Mutation	SNP	A	A	G	rs3810964	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr10:135000159A>G	ENST00000304613.3	+	6	1328	c.1307A>G	c.(1306-1308)gAa>gGa	p.E436G	KNDC1_ENST00000368572.2_Missense_Mutation_p.E436G|KNDC1_ENST00000368571.2_Missense_Mutation_p.E371G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	436			E -> G (in dbSNP:rs3810964). {ECO:0000269|Ref.1}.		cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGCTGGAAAGTGCAGCC	0.652													a|||	2088	0.416933	0.118	0.3847	5008	,	,		14228	0.5774		0.4354	False		,,,				2504	0.6595					.											0									GLY/GLU	699,3701		65,569,1566	23.0	28.0	26.0		1307	-5.9	0.0	10	dbSNP_107	26	3934,4658		927,2080,1289	yes	missense	KNDC1	NM_152643.6	98	992,2649,2855	GG,GA,AA		45.7868,15.8864,35.6604	benign	436/1750	135000159	4633,8359	2200	4296	6496	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1307A>G	10.37:g.135000159A>G	ENSP00000304437:p.Glu436Gly		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	871	0.39880952380952384	52	0.10569105691056911	135	0.3729281767955801	338	0.5909090909090909	346	0.45646437994722955	A	6.455	0.452036	0.12283	0.158864	0.457868	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.28895	1.59;1.59;1.59	3.02	-5.95	0.02241	.	0.946911	0.08625	N	0.917834	T	0.00012	0.0000	N	0.00538	-1.39	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43893	-0.9363	9	0.09843	T	0.71	-2.0863	2.4481	0.04511	0.2095:0.4457:0.2064:0.1384	rs3810964;rs58651584;rs3810964	371;436	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	G	436;436;371	ENSP00000304437:E436G;ENSP00000357561:E436G;ENSP00000357560:E371G	ENSP00000304437:E436G	E	+	2	0	KNDC1	134850149	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.407000	0.07178	-1.198000	0.02669	-1.676000	0.00740	GAA		0.652	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
MUC4	4585	mdanderson.org	37	3	195509339	195509339	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr3:195509339C>T	ENST00000463781.3	-	2	9571	c.9112G>A	c.(9112-9114)Gcc>Acc	p.A3038T	MUC4_ENST00000475231.1_Missense_Mutation_p.A3038T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	979					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCGGGGTGGCGTGACCGGTG	0.602																																						.											0													10.0	8.0	9.0					3																	195509339		635	1507	2142	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9112G>A	3.37:g.195509339C>T	ENSP00000417498:p.Ala3038Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	9.381	1.073011	0.20147	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35605	1.3;1.34	1.18	1.18	0.20946	.	.	.	.	.	T	0.19248	0.0462	N	0.19112	0.55	0.09310	N	1	B	0.24533	0.105	B	0.11329	0.006	T	0.26224	-1.0109	8	.	.	.	.	5.6784	0.17761	0.4368:0.5632:0.0:0.0	.	2910	E7ESK3	.	T	3038	ENSP00000417498:A3038T;ENSP00000420243:A3038T	.	A	-	1	0	MUC4	196994118	0.000000	0.05858	0.022000	0.16811	0.000000	0.00434	-2.963000	0.00671	-0.845000	0.04179	0.000000	0.15137	GCC		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1016628	1016628	+	Missense_Mutation	SNP	G	G	A	rs202039948		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1016628G>A	ENST00000421673.2	-	31	6223	c.6173C>T	c.(6172-6174)aCc>aTc	p.T2058I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2058	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTGTGGGTGGACCCTGT	0.567																																						.											0													381.0	380.0	380.0					11																	1016628		2193	4287	6480	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6173C>T	11.37:g.1016628G>A	ENSP00000406861:p.Thr2058Ile		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507954	0.44558	.	.	ENSG00000184956	ENST00000421673	T	0.19250	2.16	2.46	2.46	0.29980	.	.	.	.	.	T	0.20941	0.0504	L	0.50333	1.59	0.09310	N	1	D	0.56968	0.978	B	0.42738	0.396	T	0.10706	-1.0618	9	0.45353	T	0.12	.	11.0274	0.47753	0.0:0.0:1.0:0.0	.	2058	Q6W4X9	MUC6_HUMAN	I	2058	ENSP00000406861:T2058I	ENSP00000406861:T2058I	T	-	2	0	MUC6	1006628	0.007000	0.16637	0.002000	0.10522	0.226000	0.24999	1.358000	0.34102	1.716000	0.51395	0.313000	0.20887	ACC		0.567	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1016662	1016662	+	Missense_Mutation	SNP	G	G	A	rs201489806		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:1016662G>A	ENST00000421673.2	-	31	6189	c.6139C>T	c.(6139-6141)Cct>Tct	p.P2047S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2047	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGGTGGAGGAACGGTGCCT	0.572																																						.											0													524.0	490.0	502.0					11																	1016662		2200	4295	6495	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6139C>T	11.37:g.1016662G>A	ENSP00000406861:p.Pro2047Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442648	0.12164	.	.	ENSG00000184956	ENST00000421673	T	0.18810	2.19	3.12	-2.06	0.07298	.	.	.	.	.	T	0.10809	0.0264	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	9	0.11485	T	0.65	.	2.5371	0.04716	0.2087:0.142:0.5053:0.144	.	2047	Q6W4X9	MUC6_HUMAN	S	2047	ENSP00000406861:P2047S	ENSP00000406861:P2047S	P	-	1	0	MUC6	1006662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.038000	0.13862	-1.027000	0.03325	-1.786000	0.00637	CCT		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
NCOA3	8202	mdanderson.org	37	20	46279827	46279827	+	Silent	SNP	G	G	A	rs6018623	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr20:46279827G>A	ENST00000371998.3	+	20	3944	c.3753G>A	c.(3751-3753)caG>caA	p.Q1251Q	NCOA3_ENST00000341724.6_Silent_p.Q1177Q|NCOA3_ENST00000372004.3_Silent_p.Q1247Q|NCOA3_ENST00000371997.3_Silent_p.Q1242Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1251	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcagcaac	0.552													G|||	876	0.17492	0.1906	0.1571	5008	,	,		14950	0.1617		0.1928	False		,,,				2504	0.1616					.											0								G	,,,	850,3556	326.4+/-299.6	85,680,1438	49.0	55.0	53.0		3750,3726,3741,3753	4.4	1.0	20	dbSNP_114	53	959,7641	191.8+/-238.0	90,779,3431	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	175,1459,4869	AA,AG,GG		11.1512,19.2919,13.909	,,,	1250/1424,1242/1416,1247/1421,1251/1425	46279827	1809,11197	2203	4300	6503	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3753G>A	20.37:g.46279827G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.552	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
OBSL1	23363	mdanderson.org	37	2	220417266	220417266	+	Missense_Mutation	SNP	C	C	T	rs59332477	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr2:220417266C>T	ENST00000404537.1	-	18	5356	c.5300G>A	c.(5299-5301)cGa>cAa	p.R1767Q	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1675Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1767					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACCTTCCTGTCGGATGCGGAC	0.731													C|||	1886	0.376597	0.3495	0.5202	5008	,	,		10361	0.3819		0.4583	False		,,,				2504	0.2219					.											0								C	GLN/ARG	1409,2443		283,843,800	9.0	13.0	12.0		5300	4.6	1.0	2	dbSNP_129	12	3644,4534		865,1914,1310	yes	missense	OBSL1	NM_015311.2	43	1148,2757,2110	TT,TC,CC		44.5586,36.5784,42.0033	probably-damaging	1767/1897	220417266	5053,6977	1926	4089	6015	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5300G>A	2.37:g.220417266C>T	ENSP00000385636:p.Arg1767Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	913	0.41804029304029305	163	0.3313008130081301	168	0.46408839779005523	228	0.3986013986013986	354	0.46701846965699206	C	22.2	4.252406	0.80135	0.365784	0.445586	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.66995	-0.24;-0.24	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.41356	1.27	0.09310	P	1.0	D	0.89917	1.0	D	0.85130	0.997	T	0.44997	-0.9291	8	0.20519	T	0.43	.	14.2902	0.66273	0.0:1.0:0.0:0.0	rs59332477;rs62191611	1767	O75147	OBSL1_HUMAN	Q	1767;1675	ENSP00000385636:R1767Q;ENSP00000362983:R1675Q	ENSP00000362983:R1675Q	R	-	2	0	OBSL1	220125510	0.997000	0.39634	1.000000	0.80357	0.840000	0.47671	3.585000	0.53943	2.390000	0.81377	0.655000	0.94253	CGA		0.731	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
PRH2	5555	mdanderson.org	37	12	11083356	11083356	+	Missense_Mutation	SNP	A	A	G	rs112809344|rs116998526	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr12:11083356A>G	ENST00000396400.3	+	3	234	c.196A>G	c.(196-198)Aat>Gat	p.N66D	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Missense_Mutation_p.N66D	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	66			D -> N (in allele PRH2-1; dbSNP:rs1049112). {ECO:0000269|Ref.4}.			extracellular space (GO:0005615)				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TGGGAACCAGAATGATGGCCC	0.582																																						.											0													135.0	130.0	132.0					12																	11083356		2173	4253	6426	SO:0001583	missense	5555				CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.196A>G	12.37:g.11083356A>G	ENSP00000379682:p.Asn66Asp		A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Missense_Mutation	SNP	ENST00000396400.3	37	CCDS8636.1	516	0.23626373626373626	107	0.21747967479674796	78	0.2154696132596685	120	0.2097902097902098	211	0.2783641160949868	a	0.001	-3.000061	0.00044	.	.	ENSG00000134551	ENST00000381847;ENST00000396400	T;T	0.16597	2.33;2.33	0.736	-1.47	0.08772	.	1.354520	0.05670	N	0.588505	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.31530	-0.9940	6	0.02654	T	1	.	2.7991	0.05409	0.458:0.2535:0.2885:0.0	.	.	.	.	D	66	ENSP00000371271:N66D;ENSP00000379682:N66D	ENSP00000371271:N66D	N	+	1	0	PRH2	10974623	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.671000	0.01954	-1.974000	0.00998	-0.614000	0.04051	AAT		0.582	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213	
PRSS3	5646	mdanderson.org	37	9	33794809	33794809	+	Intron	SNP	G	G	A	rs201061108		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr9:33794809G>A	ENST00000361005.5	+	2	211				PRSS3_ENST00000342836.4_Missense_Mutation_p.S7N|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000429677.3_Intron	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGAGAGACAAGTGGCTTCACA	0.502																																						.											0																																										SO:0001627	intron_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1832G>A	9.37:g.33794809G>A			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.932356	0.00488	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88741	-2.29;-2.42	1.75	-2.5	0.06384	.	.	.	.	.	T	0.69260	0.3091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59096	-0.7518	9	0.02654	T	1	.	5.9988	0.19509	0.4674:0.0:0.5326:0.0	.	7	P35030-4	.	N	5;7	ENSP00000401249:S5N;ENSP00000340889:S7N	ENSP00000340889:S7N	S	+	2	0	PRSS3	33784809	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.129000	0.03244	-0.673000	0.05259	-1.096000	0.02151	AGT		0.502	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
PRSS3	5646	mdanderson.org	37	9	33794812	33794812	+	Intron	SNP	G	G	T	rs199873220		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr9:33794812G>T	ENST00000361005.5	+	2	211				PRSS3_ENST00000342836.4_Missense_Mutation_p.G8V|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000429677.3_Intron	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GAGACAAGTGGCTTCACATTG	0.498																																						.											0																																										SO:0001627	intron_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1829G>T	9.37:g.33794812G>T			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.320550	0.01320	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88509	-2.3;-2.39	2.24	-2.08	0.07254	.	.	.	.	.	T	0.72028	0.3410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56986	-0.7888	9	0.30854	T	0.27	.	3.8571	0.08981	0.0:0.1534:0.4698:0.3769	.	8	P35030-4	.	V	6;8	ENSP00000401249:G6V;ENSP00000340889:G8V	ENSP00000340889:G8V	G	+	2	0	PRSS3	33784812	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	-0.474000	0.06607	-0.454000	0.07066	-0.886000	0.02939	GGC		0.498	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
RCOR2	283248	mdanderson.org	37	11	63679369	63679369	+	Missense_Mutation	SNP	T	T	C	rs320108	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:63679369T>C	ENST00000301459.4	-	12	1927	c.1540A>G	c.(1540-1542)Acc>Gcc	p.T514A	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	514	Pro-rich.		T -> A (in dbSNP:rs320108). {ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAGAGGGGTTCCAATCAGG	0.716													C|||	4739	0.946286	0.8064	0.9813	5008	,	,		6119	1.0		1.0	False		,,,				2504	1.0					.											0													1.0	1.0	1.0					11																	63679369		870	1975	2845	SO:0001583	missense	283248			BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1540A>G	11.37:g.63679369T>C	ENSP00000301459:p.Thr514Ala		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	CCDS8052.1	2093	0.9583333333333334	408	0.8292682926829268	355	0.9806629834254144	572	1.0	758	1.0	C	5.421	0.262822	0.10294	.	.	ENSG00000167771	ENST00000301459	T	0.28454	1.61	4.42	4.42	0.53409	.	0.312825	0.30752	N	0.008943	T	0.00012	0.0000	N	0.02011	-0.69	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42361	-0.9456	9	0.02654	T	1	.	7.9221	0.29852	0.0:0.7501:0.1613:0.0885	rs320108;rs17855501;rs61010286	514	Q8IZ40	RCOR2_HUMAN	A	514	ENSP00000301459:T514A	ENSP00000301459:T514A	T	-	1	0	RCOR2	63435945	0.021000	0.18746	1.000000	0.80357	0.993000	0.82548	0.269000	0.18589	1.258000	0.44101	-0.222000	0.12452	ACC		0.716	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587	
TMPRSS13	84000	mdanderson.org	37	11	117789327	117789327	+	Missense_Mutation	SNP	T	T	C	rs201746372|rs58754377|rs61900346	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:117789327T>C	ENST00000430170.2	-	2	335	c.248A>G	c.(247-249)cAg>cGg	p.Q83R	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.Q83R|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.Q83R|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.Q83R|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.Q83R	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	83	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TGGAGATGCCTGGGCTGGAGA	0.672													t|||	6	0.00119808	0.0038	0.0	5008	,	,		14227	0.001		0.0	False		,,,				2504	0.0					.											1	Deletion - In frame(1)	urinary_tract(1)											30.0	37.0	35.0					11																	117789327		1948	4128	6076	SO:0001583	missense	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.248A>G	11.37:g.117789327T>C	ENSP00000387702:p.Gln83Arg		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	408|408	0.18681318681318682|0.18681318681318682	89|89	0.18089430894308944|0.18089430894308944	74|74	0.20441988950276244|0.20441988950276244	90|90	0.15734265734265734|0.15734265734265734	155|155	0.20448548812664907|0.20448548812664907	T|t	0.044|0.044	-1.272742|-1.272742	0.01421|0.01421	.|.	.|.	ENSG00000137747|ENSG00000137747	ENST00000336500|ENST00000528626;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	.|D;D;D;D;D	.|0.87729	.|-2.27;-2.29;-2.29;-2.27;-2.17	3.98|3.98	0.663|0.663	0.17885|0.17885	.|.	.|0.679012	.|0.12584	.|N	.|0.456148	.|T	.|0.00144	.|0.0004	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	.|T	.|0.10917	.|-1.0609	.|8	.|0.02654	.|T	.|1	.|.	6.985|6.985	0.24723|0.24723	0.0:0.7178:0.1731:0.1091|0.0:0.7178:0.1731:0.1091	rs61900346|rs61900346	.|78;83	.|Q9BYE2-4;E9PRA0	.|.;.	.|R	-1|83	.|ENSP00000435813:Q83R;ENSP00000434279:Q83R;ENSP00000387702:Q83R;ENSP00000394114:Q83R;ENSP00000436502:Q83R	.|ENSP00000387702:Q83R	.|Q	-|-	.|2	.|0	TMPRSS13|TMPRSS13	117294537|117294537	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.022000|0.022000	0.10575|0.10575	-1.912000|-1.912000	0.01582|0.01582	0.897000|0.897000	0.36392|0.36392	-0.390000|-0.390000	0.06520|0.06520	.|CAG		0.672	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
TREML2	79865	mdanderson.org	37	6	41166017	41166017	+	Missense_Mutation	SNP	C	C	T	rs77093113	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:41166017C>T	ENST00000483722.1	-	2	391	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	69	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCCAGACTCGGGCAAAGCC	0.572																																						.											0													126.0	124.0	125.0					6																	41166017		2203	4300	6503	SO:0001583	missense	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.206G>A	6.37:g.41166017C>T	ENSP00000418767:p.Arg69Gln		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	15.90	2.968589	0.53614	.	.	ENSG00000112195	ENST00000483722	T	0.64991	-0.13	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129603	0.32563	N	0.005924	T	0.66567	0.2802	L	0.60455	1.87	0.26861	N	0.967955	D	0.89917	1.0	D	0.91635	0.999	T	0.60352	-0.7280	10	0.48119	T	0.1	-23.6018	13.6225	0.62144	0.0:1.0:0.0:0.0	.	69	Q5T2D2	TRML2_HUMAN	Q	69	ENSP00000418767:R69Q	ENSP00000418767:R69Q	R	-	2	0	TREML2	41273995	0.203000	0.23435	0.325000	0.25375	0.013000	0.08279	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	CGA		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
TREML2	79865	mdanderson.org	37	6	41166021	41166021	+	Missense_Mutation	SNP	C	C	T	rs386700523|rs61736679	byFrequency	TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr6:41166021C>T	ENST00000483722.1	-	2	387	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	68	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGACTCGGGCAAAGCCAGGC	0.572																																						.											0													133.0	131.0	132.0					6																	41166021		2203	4300	6503	SO:0001583	missense	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.202G>A	6.37:g.41166021C>T	ENSP00000418767:p.Ala68Thr		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.711493	0.00712	.	.	ENSG00000112195	ENST00000483722	T	0.67865	-0.29	4.75	0.472	0.16758	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870478	0.09855	N	0.747087	T	0.06508	0.0167	N	0.00263	-1.745	0.21256	N	0.999743	B	0.10296	0.003	B	0.04013	0.001	T	0.39121	-0.9629	10	0.02654	T	1	-2.4265	5.3045	0.15795	0.0:0.0954:0.3459:0.5587	.	68	Q5T2D2	TRML2_HUMAN	T	68	ENSP00000418767:A68T	ENSP00000418767:A68T	A	-	1	0	TREML2	41273999	0.082000	0.21442	0.327000	0.25402	0.012000	0.07955	-0.620000	0.05565	-0.041000	0.13558	-0.440000	0.05779	GCC		0.572	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807	
WDR87	83889	mdanderson.org	37	19	38377404	38377404	+	Missense_Mutation	SNP	C	C	T	rs201328117		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:38377404C>T	ENST00000303868.5	-	6	7014	c.6790G>A	c.(6790-6792)Gag>Aag	p.E2264K	WDR87_ENST00000447313.2_Missense_Mutation_p.E2303K	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2264	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						tcctcctcctcccttacctcc	0.488																																						.											0													66.0	49.0	54.0					19																	38377404		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6790G>A	19.37:g.38377404C>T	ENSP00000368025:p.Glu2264Lys		Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286996	0.23478	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.41400	1.0;1.0	4.47	4.47	0.54385	.	.	.	.	.	T	0.39682	0.1087	L	0.29908	0.895	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.58577	0.841;0.841	T	0.13872	-1.0493	9	0.06099	T	0.92	.	9.1387	0.36890	0.0:0.8956:0.0:0.1044	.	2264;2303	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	K	2303;2264	ENSP00000405012:E2303K;ENSP00000368025:E2264K	ENSP00000368025:E2264K	E	-	1	0	WDR87	43069244	0.001000	0.12720	0.064000	0.19789	0.078000	0.17371	0.800000	0.27042	2.412000	0.81896	0.450000	0.29827	GAG		0.488	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
ZNF814	730051	mdanderson.org	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						.											2	Substitution - Missense(2)	prostate(2)											58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	mdanderson.org	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						.											2	Substitution - coding silent(2)	kidney(2)											25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G			A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	mdanderson.org	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																						.											0													15.0	12.0	13.0					19																	58385790		688	1563	2251	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	19.37:g.58385790G>T	ENSP00000410545:p.Pro323His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	mdanderson.org	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																						.											0													15.0	12.0	13.0					19																	58385793		687	1562	2249	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	19.37:g.58385793C>T	ENSP00000410545:p.Arg322Lys		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	mdanderson.org	37	19	58385798	58385799	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr19:58385798_58385799CC>TT	ENST00000435989.2	-	3	1193_1194	c.959_960GG>AA	c.(958-960)gGG>gAA	p.G320E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	320					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G320E(1)|p.G320G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AAGGTCTTTTCCCAGTGTGAAC	0.356																																						.											2	Substitution - Missense(1)|Substitution - coding silent(1)	central_nervous_system(2)																																								SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.959_960delinsTT	19.37:g.58385798_58385799delinsTT	ENSP00000410545:p.Gly320Glu		A6NF35	Missense_Mutation	DNP	ENST00000435989.2	37	CCDS46212.1																																																																																				0.356	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
PTPRF	5792	bcgsc.ca	37	1	44079334	44079334	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr1:44079334A>G	ENST00000359947.4	+	23	4359	c.4019A>G	c.(4018-4020)aAc>aGc	p.N1340S	PTPRF_ENST00000438120.1_Missense_Mutation_p.N1331S|PTPRF_ENST00000422171.2_Missense_Mutation_p.N699S|PTPRF_ENST00000372413.3_Missense_Mutation_p.N1331S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.N1340S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1340					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGGCGGACAACATCGAGCGC	0.597																																						.											0													287.0	232.0	251.0					1																	44079334		2203	4300	6503	SO:0001583	missense	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4019A>G	1.37:g.44079334A>G	ENSP00000353030:p.Asn1340Ser		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.20|16.20	3.055751|3.055751	0.55325|0.55325	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59;1.59|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.37012|.	N|.	0.002300|.	T|T	0.52435|0.52435	0.1734|0.1734	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B;B|.	0.20459|.	0.002;0.033;0.045;0.024;0.004|.	B;B;B;B;B|.	0.11329|.	0.001;0.005;0.006;0.005;0.001|.	T|T	0.49447|0.49447	-0.8939|-0.8939	10|5	0.87932|.	D|.	0|.	.|.	15.4562|15.4562	0.75314|0.75314	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	985;699;917;1331;1340|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	S|A	1340;1331;1340;1331;699;412|986	ENSP00000353030:N1340S;ENSP00000398822:N1331S;ENSP00000361491:N1340S;ENSP00000361490:N1331S;ENSP00000387885:N699S;ENSP00000361484:N412S|.	ENSP00000353030:N1340S|.	N|T	+|+	2|1	0|0	PTPRF|PTPRF	43851921|43851921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.524000|0.524000	0.34500|0.34500	9.281000|9.281000	0.95811|0.95811	2.117000|2.117000	0.64856|0.64856	0.459000|0.459000	0.35465|0.35465	AAC|ACA		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
PDGFD	80310	bcgsc.ca	37	11	104034625	104034625	+	Frame_Shift_Del	DEL	A	A	-	rs199923487		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr11:104034625delA	ENST00000393158.2	-	1	210	c.31delT	c.(31-33)ttcfs	p.F11fs	PDGFD_ENST00000302251.5_Frame_Shift_Del_p.F11fs			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	11					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTTGCGCAGATTAGAGTGTAG	0.567											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													63.0	63.0	63.0					11																	104034625		2202	4299	6501	SO:0001589	frameshift_variant	80310			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.31delT	11.37:g.104034625delA	ENSP00000376865:p.Phe11fs	1378	A8K9T6|Q9BWV5	Frame_Shift_Del	DEL	ENST00000393158.2	37	CCDS41703.1																																																																																				0.567	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208	
SYNE2	23224	bcgsc.ca	37	14	64445578	64445578	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr14:64445578A>G	ENST00000344113.4	+	14	1627	c.1415A>G	c.(1414-1416)aAc>aGc	p.N472S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.N472S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N472S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	472					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAATCAACAACATTTTGGAG	0.289																																						.											0													52.0	49.0	50.0					14																	64445578		1789	4059	5848	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1415A>G	14.37:g.64445578A>G	ENSP00000341781:p.Asn472Ser		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287284	0.23478	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55234	0.91;0.91;0.53	6.0	4.83	0.62350	.	0.197267	0.35067	N	0.003476	T	0.60573	0.2279	L	0.59436	1.845	0.80722	D	1	P;D	0.56035	0.956;0.974	P;P	0.57009	0.651;0.811	T	0.57189	-0.7854	10	0.30078	T	0.28	.	10.8847	0.46960	0.8596:0.0:0.0:0.1404	.	472;472	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	472	ENSP00000350719:N472S;ENSP00000341781:N472S;ENSP00000452570:N472S	ENSP00000261678:N472S	N	+	2	0	SYNE2	63515331	0.887000	0.30362	1.000000	0.80357	0.189000	0.23516	0.506000	0.22658	1.034000	0.39945	0.528000	0.53228	AAC		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
GGCT	79017	bcgsc.ca	37	7	30544238	30544239	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:30544238_30544239delCT	ENST00000275428.4	-	1	221_222	c.87_88delAG	c.(85-90)gaagggfs	p.G30fs	GGCT_ENST00000005374.6_Frame_Shift_Del_p.G30fs|GGCT_ENST00000409390.1_Frame_Shift_Del_p.G30fs|GGCT_ENST00000598361.1_Intron|GGCT_ENST00000409436.1_Frame_Shift_Del_p.G30fs|GGCT_ENST00000409144.1_Frame_Shift_Del_p.G30fs	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	30					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AGGTGGATCCTCTCTGTCAGCA	0.649																																						.											0																																										SO:0001589	frameshift_variant	79017			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.87_88delAG	7.37:g.30544238_30544239delCT	ENSP00000275428:p.Gly30fs		B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Frame_Shift_Del	DEL	ENST00000275428.4	37	CCDS5428.1																																																																																				0.649	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051	
GNAI1	2770	bcgsc.ca	37	7	79818278	79818284	+	Frame_Shift_Del	DEL	ATCTGGT	ATCTGGT	-	rs147937975		TCGA-KO-8414-01A-11D-2310-10	TCGA-KO-8414-11A-01D-2311-10	ATCTGGT	ATCTGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	2a61c3d7-f0c1-45d1-9eca-02fb72e95c13	edf00a92-13fd-4c2f-b41c-16458d1a47dd	g.chr7:79818278_79818284delATCTGGT	ENST00000351004.3	+	2	503_509	c.130_136delATCTGGT	c.(130-138)atctggtaafs	p.IW*44fs	GNAI1_ENST00000457358.2_5'UTR|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	44					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGGTGAATCTGGTAAAAGTACAAT	0.314																																						.											0																																										SO:0001589	frameshift_variant	2770			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.130_136delATCTGGT	7.37:g.79818278_79818284delATCTGGT	ENSP00000343027:p.Ile44fs		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Frame_Shift_Del	DEL	ENST00000351004.3	37	CCDS5595.1																																																																																				0.314	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	
