#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HLA-C	3107	broad.mit.edu	37	6	31239513	31239513	+	Missense_Mutation	SNP	C	C	T	rs41548913		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr6:31239513C>T	ENST00000376228.5	-	2	220	c.206G>A	c.(205-207)gGg>gAg	p.G69E	HLA-C_ENST00000383329.3_Missense_Mutation_p.G69E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	69	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.G69E(5)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCGCGGCTCCCCTCTCGGACT	0.697																																						ENST00000383329.3																			5	Substitution - Missense(5)	p.G69E(5)	lung(4)|prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(205-207)gGg>gAg		major histocompatibility complex, class I, C							39.0	41.0	40.0					6																	31239513		1510	2707	4217	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239513C>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.206G>A	6.37:g.31239513C>T	ENSP00000365402:p.Gly69Glu					HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E	p.G69E			Q9TNN7	1C05_HUMAN			2	220	-			69			Alpha-1.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.206G>A	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	-	9.175	1.022203	0.19433	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00009	9.51;9.51	2.81	-5.62	0.02481	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	4.590520	0.01464	N	0.016005	T	0.00012	0.0000	N	0.00016	-2.865	0.09310	N	1	D;P;D;B	0.89917	1.0;0.676;1.0;0.165	D;D;D;P	0.97110	1.0;0.931;1.0;0.655	T	0.64613	-0.6366	10	0.08381	T	0.77	.	0.5269	0.00621	0.2346:0.1439:0.2034:0.418	rs41548913;rs45497191	69;69;69;69	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	E	69;69;69;106	ENSP00000365402:G69E;ENSP00000372819:G69E	ENSP00000365402:G69E	G	-	2	0	HLA-C	31347492	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.769000	0.01792	-2.050000	0.00905	-3.548000	0.00031	GGG		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		3	42	0	0	0	1	0	3	42				
ATM	472	broad.mit.edu	37	11	108173735	108173735	+	Silent	SNP	A	A	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr11:108173735A>G	ENST00000452508.2	+	37	5664	c.5475A>G	c.(5473-5475)caA>caG	p.Q1825Q	ATM_ENST00000278616.4_Silent_p.Q1825Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1825					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAATTCTTCAATTATTAAAGC	0.333			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5473-5475)caA>caG	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							106.0	110.0	109.0					11																	108173735		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108173735A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5475A>G	11.37:g.108173735A>G		TSP Lung(14;0.12)				ATM_ENST00000452508.2_Silent_p.Q1825Q	p.Q1825Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	36	5860	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1825					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.5475A>G	CCDS31669.1																																																																																				0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	60	0	0	0	1	0	6	60				
CCDC70	83446	broad.mit.edu	37	13	52440136	52440136	+	Missense_Mutation	SNP	G	G	A	rs78877659	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:52440136G>A	ENST00000242819.4	+	2	918	c.622G>A	c.(622-624)Gga>Aga	p.G208R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	208						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCACATTGCCGGAGAGCAGAT	0.607													G|||	5	0.000998403	0.0	0.0	5008	,	,		17951	0.004		0.001	False		,,,				2504	0.0					ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(622-624)Gga>Aga		coiled-coil domain containing 70							43.0	46.0	45.0					13																	52440136		2203	4299	6502	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52440136G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.622G>A	13.37:g.52440136G>A	ENSP00000242819:p.Gly208Arg						p.G208R	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	918	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	208					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.622G>A	CCDS9431.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	4.422	0.077994	0.08485	.	.	ENSG00000123171	ENST00000242819	T	0.10005	2.92	4.44	-0.537	0.11872	.	1.092780	0.07324	U	0.878043	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46048	-0.9219	10	0.17369	T	0.5	-22.8057	5.9729	0.19363	0.2673:0.1417:0.5911:0.0	.	208	Q6NSX1	CCD70_HUMAN	R	208	ENSP00000242819:G208R	ENSP00000242819:G208R	G	+	1	0	CCDC70	51338137	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.243000	0.18106	-0.248000	0.09583	-1.327000	0.01280	GGA		0.607	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		3	31	0	0	0	1	0	3	31				
TRIO	7204	broad.mit.edu	37	5	14287075	14287075	+	Missense_Mutation	SNP	C	C	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr5:14287075C>G	ENST00000344204.4	+	4	467	c.443C>G	c.(442-444)tCc>tGc	p.S148C	TRIO_ENST00000537187.1_Missense_Mutation_p.S148C|TRIO_ENST00000509967.2_Missense_Mutation_p.S99C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	148	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGCAGGAGTCCTTCCCCTGC	0.522																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(442-444)tCc>tGc		trio Rho guanine nucleotide exchange factor							102.0	97.0	98.0					5																	14287075		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14287075C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.443C>G	5.37:g.14287075C>G	ENSP00000339299:p.Ser148Cys					TRIO_ENST00000509967.2_Missense_Mutation_p.S99C|TRIO_ENST00000537187.1_Missense_Mutation_p.S148C	p.S148C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			4	467	+	Lung NSC(4;0.000742)		148			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.443C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558245	0.65538	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	D;D;D	0.84516	-1.86;-1.86;-1.86	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.88672	0.6500	L	0.28649	0.875	0.80722	D	1	B;D	0.76494	0.03;0.999	B;D	0.85130	0.037;0.997	D	0.87496	0.2430	10	0.37606	T	0.19	.	19.7123	0.96100	0.0:1.0:0.0:0.0	.	99;148	F5H228;O75962	.;TRIO_HUMAN	C	148;148;99	ENSP00000339299:S148C;ENSP00000446348:S148C;ENSP00000445592:S99C	ENSP00000339299:S148C	S	+	2	0	TRIO	14340075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.664000	0.90586	0.650000	0.86243	TCC		0.522	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		20	46	0	0	0	1	0	20	46				
ARHGAP10	79658	broad.mit.edu	37	4	148787930	148787930	+	Missense_Mutation	SNP	A	A	G	rs145720035		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr4:148787930A>G	ENST00000336498.3	+	7	904	c.665A>G	c.(664-666)aAt>aGt	p.N222S		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAAGACTTCAATCACTACAAA	0.343											OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(664-666)aAt>aGt		Rho GTPase activating protein 10							118.0	111.0	113.0					4																	148787930		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148787930A>G	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.665A>G	4.37:g.148787930A>G	ENSP00000336923:p.Asn222Ser		OREG0016355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1720		p.N222S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	7	904	+	all_hematologic(180;0.151)	Renal(17;0.0166)	222			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.665A>G	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	7.380	0.628645	0.14257	.	.	ENSG00000071205	ENST00000336498	T	0.03920	3.76	6.17	5.0	0.66597	.	0.238952	0.49305	D	0.000142	T	0.02230	0.0069	N	0.04203	-0.255	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.44651	-0.9314	10	0.08837	T	0.75	.	9.0259	0.36230	0.8591:0.0:0.1409:0.0	.	222	A1A4S6	RHG10_HUMAN	S	222	ENSP00000336923:N222S	ENSP00000336923:N222S	N	+	2	0	ARHGAP10	149007380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.210000	0.51129	1.165000	0.42670	0.533000	0.62120	AAT		0.343	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		4	43	0	0	0	1	0	4	43				
PLEKHG1	57480	broad.mit.edu	37	6	151161960	151161960	+	Silent	SNP	T	T	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr6:151161960T>A	ENST00000358517.2	+	16	4297	c.4086T>A	c.(4084-4086)tcT>tcA	p.S1362S	PLEKHG1_ENST00000367328.1_Silent_p.S1362S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1362							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGGGCCATCTCCCAATCAAC	0.393																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(4084-4086)tcT>tcA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							82.0	83.0	83.0					6																	151161960		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161960T>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4086T>A	6.37:g.151161960T>A						PLEKHG1_ENST00000358517.2_Silent_p.S1362S	p.S1362S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4398	+			1362					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.4086T>A	CCDS34552.1																																																																																				0.393	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			24	53	0	0	0	1	0	24	53				
RGL4	266747	broad.mit.edu	37	22	24034583	24034583	+	Missense_Mutation	SNP	C	C	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr22:24034583C>A	ENST00000290691.5	+	2	1411	c.241C>A	c.(241-243)Ccg>Acg	p.P81T	KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_5'UTR	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	81					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTATCAGCCCCCGCAACGGTC	0.547																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(241-243)Ccg>Acg		ral guanine nucleotide dissociation stimulator-like 4							185.0	181.0	183.0					22																	24034583		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034583C>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.241C>A	22.37:g.24034583C>A	ENSP00000290691:p.Pro81Thr					RGL4_ENST00000401461.1_5'UTR|GUSBP11_ENST00000417194.1_RNA	p.P81T	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			2	1411	+			81					Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.241C>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	c	7.805	0.714440	0.15306	.	.	ENSG00000159496	ENST00000290691;ENST00000382833;ENST00000423392	T;T	0.34275	1.37;1.37	1.92	0.882	0.19172	.	0.350746	0.20489	U	0.091322	T	0.17534	0.0421	N	0.24115	0.695	0.09310	N	1	B;B	0.33694	0.421;0.002	B;B	0.26770	0.073;0.007	T	0.13124	-1.0521	10	0.25751	T	0.34	.	6.3999	0.21632	0.0:0.8301:0.0:0.1699	.	81;81	E9PH87;Q8IZJ4	.;RGDSR_HUMAN	T	81	ENSP00000290691:P81T;ENSP00000402142:P81T	ENSP00000290691:P81T	P	+	1	0	RGL4	22364583	0.994000	0.37717	0.000000	0.03702	0.001000	0.01503	3.162000	0.50755	0.370000	0.24538	0.543000	0.68304	CCG		0.547	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		5	88	1	0	0.014758	1	0.0164942	5	88				
TPI1	7167	broad.mit.edu	37	12	6976729	6976729	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr12:6976729C>T	ENST00000229270.4	+	1	447	c.110C>T	c.(109-111)gCc>gTc	p.A37V	TPI1_ENST00000535434.1_5'Flank|TPI1_ENST00000488464.2_5'Flank|TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	37					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGCTCCAGCGCCATGGCGCCC	0.642																																						ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(109-111)gCc>gTc		triosephosphate isomerase 1							13.0	17.0	15.0					12																	6976729		2197	4298	6495	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6976729C>T		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.110C>T	12.37:g.6976729C>T	ENSP00000229270:p.Ala37Val					TPI1_ENST00000396705.5_5'UTR	p.A37V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			1	447	+			0					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.110C>T	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347273	0.41599	.	.	ENSG00000111669	ENST00000229270	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.41328	0.1154	N	0.12569	0.235	0.80722	D	1	.	.	.	.	.	.	T	0.35943	-0.9768	6	0.35671	T	0.21	.	11.8356	0.52321	0.0:0.9187:0.0:0.0813	.	.	.	.	V	37	.	ENSP00000229270:A37V	A	+	2	0	TPI1	6846990	0.001000	0.12720	0.154000	0.22540	0.090000	0.18270	1.297000	0.33400	2.415000	0.81967	0.542000	0.68232	GCC		0.642	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		4	9	0	0	0	1	0	4	9				
POSTN	10631	broad.mit.edu	37	13	38160280	38160280	+	Silent	SNP	G	G	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:38160280G>T	ENST00000379747.4	-	7	1008	c.891C>A	c.(889-891)tcC>tcA	p.S297S	POSTN_ENST00000379749.4_Silent_p.S297S|POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S|POSTN_ENST00000379742.4_Silent_p.S297S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	297	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AACTACCTTCGGAAGCCACTT	0.423																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(889-891)tcC>tcA		periostin, osteoblast specific factor							88.0	89.0	89.0					13																	38160280		2203	4300	6503	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160280G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.891C>A	13.37:g.38160280G>T						POSTN_ENST00000379742.4_Silent_p.S297S|POSTN_ENST00000379749.4_Silent_p.S297S|POSTN_ENST00000541179.1_Silent_p.S297S|POSTN_ENST00000379743.4_Silent_p.S297S|POSTN_ENST00000541481.1_Silent_p.S297S	p.S297S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	1008	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	297			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.891C>A	CCDS9364.1																																																																																				0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		5	84	1	0	0.217242	1	0.229311	5	84				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		15	24	0	0	0	1	0	15	24				
LOC101929950	101929950	broad.mit.edu	37	17	36365080	36365080	+	Missense_Mutation	SNP	C	C	G	rs185450970		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr17:36365080C>G	ENST00000312412.4	-	4	514	c.515G>C	c.(514-516)cGc>cCc	p.R172P	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P																kidney(1)|lung(3)	4						AGCAGCATAGCGCACCTCTCC	0.368																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(514-516)cGc>cCc																																						SO:0001583	missense	101929950							g.chr17:36365080C>G																												ENST00000312412.4:c.515G>C	17.37:g.36365080C>G	ENSP00000308540:p.Arg172Pro					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R17P	p.R172P							4	514	-									Missense_Mutation	SNP	ENST00000312412.4	37	c.515G>C		.	.	.	.	.	.	.	.	.	.	C	12.72	2.022170	0.35701	.	.	ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004	T;T;T;T	0.02737	4.18;4.18;4.18;4.18	2.61	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	.	.	.	.	.	.	.	.	.	.	.	.	T	0.14671	-1.0464	6	0.87932	D	0	.	13.2566	0.60083	0.0:1.0:0.0:0.0	.	.	.	.	P	17;172;172;168	ENSP00000444117:R17P;ENSP00000428261:R172P;ENSP00000308540:R172P;ENSP00000428330:R168P	ENSP00000308540:R172P	R	-	2	0	RP11-1407O15.2	33618886	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.568000	0.82369	1.457000	0.47850	0.194000	0.17425	CGC		0.368	RP11-1407O15.2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				9	21	0	0	0	1	0	9	21				
ZNF613	79898	broad.mit.edu	37	19	52447915	52447915	+	Missense_Mutation	SNP	A	A	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr19:52447915A>G	ENST00000293471.6	+	6	1458	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GAGAAACCCTATGAATGCACT	0.453																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(778-780)tAt>tGt		zinc finger protein 613							84.0	91.0	88.0					19																	52447915		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447915A>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.779A>G	19.37:g.52447915A>G	ENSP00000293471:p.Tyr260Cys					ZNF613_ENST00000391794.4_Missense_Mutation_p.Y224C	p.Y260C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1458	+		all_neural(266;0.117)	260					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.779A>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	9.267	1.044787	0.19748	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.25414	1.8;1.8	3.1	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30649	N	0.009163	T	0.45617	0.1351	M	0.78223	2.4	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.23691	-1.0181	10	0.87932	D	0	.	6.7455	0.23458	0.4545:0.0:0.0:0.5455	.	260	Q6PF04	ZN613_HUMAN	C	260;224	ENSP00000293471:Y260C;ENSP00000375671:Y224C	ENSP00000293471:Y260C	Y	+	2	0	ZNF613	57139727	0.000000	0.05858	0.005000	0.12908	0.475000	0.33008	0.152000	0.16302	0.382000	0.24878	0.533000	0.62120	TAT		0.453	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		4	62	0	0	0	1	0	4	62				
MC3R	4159	broad.mit.edu	37	20	54824371	54824371	+	Missense_Mutation	SNP	G	G	A	rs371959593		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr20:54824371G>A	ENST00000243911.2	+	1	584	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	158					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CATCATGACCGTGAGGAAGGC	0.587																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(472-474)Gtg>Atg		melanocortin 3 receptor		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	208.0	189.0	195.0		472	5.2	0.0	20		195	0,8600		0,0,4300	no	missense	MC3R	NM_019888.3	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	158/324	54824371	1,13005	2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824371G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.472G>A	20.37:g.54824371G>A	ENSP00000243911:p.Val158Met						p.V158M	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	584	+			195					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.472G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456152	0.63401	2.27E-4	0.0	ENSG00000124089	ENST00000243911	T	0.72394	-0.65	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.091941	0.41938	D	0.000788	T	0.78566	0.4303	L	0.37800	1.135	0.37660	D	0.922742	D	0.76494	0.999	D	0.69824	0.966	T	0.82354	-0.0499	10	0.62326	D	0.03	.	18.3858	0.90466	0.0:0.0:1.0:0.0	.	195	P41968	MC3R_HUMAN	M	158	ENSP00000243911:V158M	ENSP00000243911:V158M	V	+	1	0	MC3R	54257778	1.000000	0.71417	0.027000	0.17364	0.885000	0.51271	5.218000	0.65257	2.423000	0.82170	0.650000	0.86243	GTG		0.587	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			4	80	0	0	0	1	0	4	80				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	80	0	0	0	1	0	5	80				
DENND4A	10260	broad.mit.edu	37	15	65956953	65956953	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr15:65956953G>A	ENST00000431932.2	-	30	5543	c.5335C>T	c.(5335-5337)Cca>Tca	p.P1779S	DENND4A_ENST00000443035.3_Missense_Mutation_p.P1822S	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1779					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGACTCATTGGTCCATAGACA	0.333																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(5464-5466)Cca>Tca		DENN/MADD domain containing 4A							101.0	95.0	97.0					15																	65956953		1830	4082	5912	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65956953G>A	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5335C>T	15.37:g.65956953G>A	ENSP00000396830:p.Pro1779Ser					DENND4A_ENST00000431932.2_Missense_Mutation_p.P1779S	p.P1822S	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			31	5679	-			1779					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.5464C>T	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426282	0.83667	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.08282	3.12;3.11	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.06516	-1.0822	10	0.72032	D	0.01	.	19.4665	0.94945	0.0:0.0:1.0:0.0	.	1822;1779	E7EPL3;Q7Z401	.;MYCPP_HUMAN	S	1822;1779	ENSP00000391167:P1822S;ENSP00000396830:P1779S	ENSP00000396830:P1779S	P	-	1	0	DENND4A	63744007	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	9.230000	0.95299	2.591000	0.87537	0.555000	0.69702	CCA		0.333	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		10	22	0	0	0	1	0	10	22				
CA10	56934	broad.mit.edu	37	17	50212251	50212251	+	Intron	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr17:50212251C>T	ENST00000285273.4	-	2	1173				CA10_ENST00000340813.6_Missense_Mutation_p.V23M|CA10_ENST00000451037.2_Intron|CA10_ENST00000442502.2_Intron|CA10_ENST00000570565.1_Intron	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X						brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	ttctccctcacccccaccata	0.562																																						ENST00000340813.6																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41						c.(67-69)Gtg>Atg		carbonic anhydrase X							117.0	101.0	106.0					17																	50212251		876	1991	2867	SO:0001627	intron_variant	56934				brain development			g.chr17:50212251C>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.61+22834G>A	17.37:g.50212251C>T						CA10_ENST00000285273.4_Intron|CA10_ENST00000570565.1_Intron|CA10_ENST00000451037.2_Intron|CA10_ENST00000442502.2_Intron	p.V23M			Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		2	496	-			0					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.67G>A	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	9.831	1.188339	0.21954	.	.	ENSG00000154975	ENST00000340813	T	0.71698	-0.59	3.24	-4.75	0.03239	.	0.267225	0.19898	N	0.103573	T	0.39733	0.1089	.	.	.	0.09310	N	1	P	0.39831	0.69	B	0.25291	0.059	T	0.43393	-0.9394	8	.	.	.	.	4.6893	0.12772	0.566:0.2378:0.0:0.1962	.	23	Q68D28	.	M	23	ENSP00000340363:V23M	.	V	-	1	0	CA10	47567250	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.702000	0.00823	-1.006000	0.03412	-0.140000	0.14226	GTG		0.562	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		4	47	0	0	0	1	0	4	47				
PIM2	11040	broad.mit.edu	37	X	48776050	48776050	+	Splice_Site	SNP	C	C	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chrX:48776050C>T	ENST00000376509.4	-	1	251		c.e1+1			NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase						apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GATGTACTCACCTGGCGGCGG	0.697																																						ENST00000376509.4																			0				lung(3)|stomach(1)	4						c.e1+1		pim-2 oncogene							15.0	19.0	18.0					X																	48776050		2192	4271	6463	SO:0001630	splice_region_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48776050C>T	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.61+1G>A	X.37:g.48776050C>T								NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN			1	251	-								A8K4G6|Q99739	Splice_Site	SNP	ENST00000376509.4	37		CCDS14312.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669714	0.29693	.	.	ENSG00000102096	ENST00000376509	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1022	0.48182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIM2	48660994	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	2.587000	0.46128	2.092000	0.63282	0.544000	0.68410	.		0.697	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1		Intron	3	18	0	0	0	1	0	3	18				
MATN2	4147	broad.mit.edu	37	8	98943421	98943421	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr8:98943421G>A	ENST00000520016.1	+	2	507	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	MATN2_ENST00000521689.1_Missense_Mutation_p.R128Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000254898.5_Missense_Mutation_p.R128Q			O00339	MATN2_HUMAN	matrilin 2	128	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AAGAGGATGCGGCATCTGTCC	0.587																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(382-384)cGg>cAg		matrilin 2							54.0	59.0	57.0					8																	98943421		2129	4252	6381	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943421G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.383G>A	8.37:g.98943421G>A	ENSP00000430487:p.Arg128Gln					MATN2_ENST00000521689.1_Missense_Mutation_p.R128Q|MATN2_ENST00000524308.1_Missense_Mutation_p.R128Q|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R128Q	p.R128Q	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	614	+	Breast(36;1.43e-06)		128			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.383G>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696510	0.48202	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.97	4.03	0.46877	von Willebrand factor, type A (3);	0.081678	0.51477	D	0.000095	T	0.55321	0.1913	N	0.02721	-0.515	0.27765	N	0.943701	P;P;D;P	0.58620	0.946;0.933;0.983;0.938	P;P;P;B	0.48921	0.584;0.551;0.595;0.345	T	0.50294	-0.8845	10	0.16420	T	0.52	-22.3411	7.0398	0.25013	0.0874:0.0:0.5924:0.3202	.	128;128;128;128	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	Q	128	ENSP00000429977:R128Q;ENSP00000254898:R128Q;ENSP00000430221:R128Q;ENSP00000430487:R128Q	ENSP00000254898:R128Q	R	+	2	0	MATN2	99012597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.998000	0.40796	2.836000	0.97738	0.655000	0.94253	CGG		0.587	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			3	22	0	0	0	1	0	3	22				
ATP12A	479	broad.mit.edu	37	13	25268673	25268673	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:25268673G>A	ENST00000381946.3	+	11	1636	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R496H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	490					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R490H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		AAAAGAAACCGCAAAGTAGCT	0.393											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R490H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1486-1488)cGc>cAc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						120.0	129.0	126.0					13																	25268673		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25268673G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1469G>A	13.37:g.25268673G>A	ENSP00000371372:p.Arg490His		OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ATP12A_ENST00000381946.3_Missense_Mutation_p.R490H	p.R496H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	11	1820	+		Lung SC(185;0.0225)|Breast(139;0.077)	490					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1487G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049971	0.36181	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79749	-1.3;-1.3	5.55	-1.36	0.09085	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.667409	0.13957	N	0.351123	T	0.63058	0.2479	N	0.22421	0.69	0.09310	N	0.999993	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.003	T	0.50101	-0.8867	10	0.46703	T	0.11	.	5.3183	0.15868	0.4498:0.2646:0.2855:0.0	.	496;490	P54707-2;P54707	.;AT12A_HUMAN	H	496;490	ENSP00000218548:R496H;ENSP00000371372:R490H	ENSP00000218548:R496H	R	+	2	0	ATP12A	24166673	0.000000	0.05858	0.989000	0.46669	0.995000	0.86356	-0.464000	0.06688	-0.285000	0.09089	0.563000	0.77884	CGC		0.393	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		4	72	0	0	0	1	0	4	72				
RCBTB2	1102	broad.mit.edu	37	13	49076986	49076986	+	Missense_Mutation	SNP	C	C	T	rs371439325		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:49076986C>T	ENST00000344532.3	-	11	1414	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M|RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	331					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.V331M(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACATGTACACGTGCCCACCC	0.582																																						ENST00000344532.3																			1	Substitution - Missense(1)	p.V331M(1)	endometrium(1)	breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(991-993)Gtg>Atg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2		C	MET/VAL	0,4406		0,0,2203	112.0	80.0	91.0		991	4.0	1.0	13		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	RCBTB2	NM_001268.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	331/552	49076986	1,13005	2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076986C>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.991G>A	13.37:g.49076986C>T	ENSP00000345144:p.Val331Met					RCBTB2_ENST00000430805.2_Missense_Mutation_p.V336M|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R259H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V57M	p.V331M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1414	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	331					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.991G>A	CCDS9411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.912082|4.912082	0.92178|0.92178	0.0|0.0	1.16E-4|1.16E-4	ENSG00000136161|ENSG00000136161	ENST00000544904|ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T|D;D;D	0.49720|0.85556	0.77|-1.83;-1.83;-2.0	5.73|5.73	3.97|3.97	0.46021|0.46021	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.112079	.|0.64402	.|D	.|0.000009	D|D	0.90731|0.90731	0.7091|0.7091	M|M	0.79475|0.79475	2.455|2.455	0.29447|0.29447	N|N	0.858755|0.858755	B|D;D;P;D	0.06786|0.76494	0.001|0.997;0.997;0.943;0.999	B|D;D;B;D	0.01281|0.63488	0.0|0.915;0.915;0.437;0.915	D|D	0.87201|0.87201	0.2241|0.2241	9|10	0.35671|0.59425	T|D	0.21|0.04	.|.	13.1552|13.1552	0.59514|0.59514	0.0:0.8637:0.0:0.1363|0.0:0.8637:0.0:0.1363	.|.	259|57;336;283;331	B4DPP7|B4E372;B4DWG0;B3KVB1;O95199	.|.;.;.;RCBT2_HUMAN	H|M	259|331;283;336;336;57	ENSP00000443904:R259H|ENSP00000345144:V331M;ENSP00000389910:V336M;ENSP00000443862:V57M	ENSP00000443904:R259H|ENSP00000345144:V331M	R|V	-|-	2|1	0|0	RCBTB2|RCBTB2	47974987|47974987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.619000|4.619000	0.61218|0.61218	1.553000|1.553000	0.49476|0.49476	0.557000|0.557000	0.71058|0.71058	CGT|GTG		0.582	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		4	43	0	0	0	1	0	4	43				
OR4K2	390431	broad.mit.edu	37	14	20345163	20345163	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr14:20345163T>C	ENST00000298642.2	+	1	773	c.737T>C	c.(736-738)gTt>gCt	p.V246A		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTCATTGTTGTCTTCTTG	0.383																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(736-738)gTt>gCt		olfactory receptor, family 4, subfamily K, member 2							216.0	201.0	206.0					14																	20345163		2203	4299	6502	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345163T>C		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.737T>C	14.37:g.20345163T>C	ENSP00000298642:p.Val246Ala						p.V246A	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	773	+	all_cancers(95;0.00108)		246					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.737T>C	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	18.42	3.621177	0.66787	.	.	ENSG00000165762	ENST00000298642	T	0.00237	8.47	5.16	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000435	T	0.00384	0.0012	M	0.64170	1.965	0.31894	N	0.616816	P	0.45902	0.868	P	0.59012	0.85	T	0.47302	-0.9128	10	0.87932	D	0	.	9.469	0.38831	0.1585:0.0:0.0:0.8415	.	246	Q8NGD2	OR4K2_HUMAN	A	246	ENSP00000298642:V246A	ENSP00000298642:V246A	V	+	2	0	OR4K2	19415003	0.659000	0.27411	0.998000	0.56505	0.930000	0.56654	1.494000	0.35616	0.942000	0.37525	0.482000	0.46254	GTT		0.383	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			5	112	0	0	0	1	0	5	112				
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A	rs201864661		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)Ccg>Acg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr						p.P679T	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2035	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.2035C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	19	1	0	0.00116845	1	0.00138753	6	19				
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						ENST00000228347.4																			2	Substitution - Missense(2)	p.L372F(2)	urinary_tract(1)|prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1114-1116)Ctt>Ttt		polymerase (RNA) III (DNA directed) polypeptide B																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR	p.L372F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		6	10	0	0	0	1	0	6	10				
CUL4B	8450	broad.mit.edu	37	X	119672576	119672576	+	Silent	SNP	C	C	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chrX:119672576C>A	ENST00000404115.3	-	15	2246	c.1845G>T	c.(1843-1845)ctG>ctT	p.L615L	CUL4B_ENST00000336592.6_Silent_p.L602L|CUL4B_ENST00000371322.5_Silent_p.L597L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	615					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCCGACTAACAGGCGCTTGG	0.348																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1789-1791)ctG>ctT		cullin 4B							107.0	106.0	106.0					X																	119672576		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119672576C>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1845G>T	X.37:g.119672576C>A						CUL4B_ENST00000336592.6_Silent_p.L602L|CUL4B_ENST00000404115.3_Silent_p.L615L	p.L597L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			13	1852	-			615					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.1791G>T	CCDS35379.1																																																																																				0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		16	114	1	0	1.67942e-08	1	2.05864e-08	16	114				
UBA7	7318	broad.mit.edu	37	3	49848257	49848257	+	Silent	SNP	G	G	A			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr3:49848257G>A	ENST00000333486.3	-	11	1397	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	413	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CATCATAGCGGCTGCCTCTCT	0.557																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(1237-1239)agC>agT		ubiquitin-like modifier activating enzyme 7							70.0	75.0	73.0					3																	49848257		2203	4300	6503	SO:0001819	synonymous_variant	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49848257G>A	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1239C>T	3.37:g.49848257G>A							p.S413S	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	1397	-			413			2 approximate repeats.		Q9BRB2	Silent	SNP	ENST00000333486.3	37	c.1239C>T	CCDS2805.1																																																																																				0.557	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		3	45	0	0	0	1	0	3	45				
PAN3	255967	broad.mit.edu	37	13	28854620	28854620	+	Missense_Mutation	SNP	A	A	T			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr13:28854620A>T	ENST00000380958.3	+	16	2413	c.2261A>T	c.(2260-2262)tAt>tTt	p.Y754F	PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F|PAN3_ENST00000399613.1_Missense_Mutation_p.Y554F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTCGATTTTATACTCAATTG	0.343																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1660-1662)tAt>tTt		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							124.0	107.0	113.0					13																	28854620		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28854620A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2261A>T	13.37:g.28854620A>T	ENSP00000370345:p.Tyr754Phe					PAN3_ENST00000380958.3_Missense_Mutation_p.Y754F|PAN3_ENST00000282391.5_Missense_Mutation_p.Y442F	p.Y554F			Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	15	1724	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	754			Interaction with PAN2.|Protein kinase.			Missense_Mutation	SNP	ENST00000380958.3	37	c.1661A>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329693	0.81690	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.42513	0.97;0.97;0.97	5.37	5.37	0.77165	Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.39566	1.225	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.83275	0.995;0.99;0.996	T	0.42224	-0.9464	10	0.11794	T	0.64	-13.6789	15.6713	0.77279	1.0:0.0:0.0:0.0	.	754;442;700	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	F	754;554;442	ENSP00000370345:Y754F;ENSP00000382522:Y554F;ENSP00000282391:Y442F	ENSP00000282391:Y442F	Y	+	2	0	PAN3	27752620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.166000	0.68216	0.459000	0.35465	TAT		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		4	84	0	0	0	1	0	4	84				
ZFHX3	463	broad.mit.edu	37	16	72828227	72828227	+	Missense_Mutation	SNP	A	A	C			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr16:72828227A>C	ENST00000268489.5	-	9	9026	c.8354T>G	c.(8353-8355)cTc>cGc	p.L2785R	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2785					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACAGGTGAGAGGGGGACACC	0.488																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8353-8355)cTc>cGc		zinc finger homeobox 3							77.0	80.0	79.0					16																	72828227		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828227A>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8354T>G	16.37:g.72828227A>C	ENSP00000268489:p.Leu2785Arg					ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1871R	p.L2785R	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9026	-		Ovarian(137;0.13)	2785					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8354T>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397303	0.25205	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.79	5.96	5.96	0.96718	.	0.000000	0.45126	D	0.000391	T	0.72455	0.3462	L	0.36672	1.1	0.58432	D	0.999999	D	0.54397	0.966	P	0.50440	0.641	T	0.68648	-0.5353	10	0.18710	T	0.47	.	16.4311	0.83844	1.0:0.0:0.0:0.0	.	2785	Q15911	ZFHX3_HUMAN	R	2785;1871	ENSP00000268489:L2785R;ENSP00000438926:L1871R	ENSP00000268489:L2785R	L	-	2	0	ZFHX3	71385728	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.515000	0.81761	2.277000	0.76020	0.528000	0.53228	CTC		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	36	0	0	0	1	0	12	36				
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	G	A	rs142685730	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17949	0.0		0.0	False		,,,				2504	0.0					ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1360-1362)taC>taT		rhophilin, Rho GTPase binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	83.0	66.0	72.0		1362	0.3	0.2	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		454/687	33486990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33486990G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1362C>T	19.37:g.33486990G>A						RHPN2_ENST00000400226.4_Silent_p.Y303Y	p.Y454Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			11	1397	-	Esophageal squamous(110;0.137)		454			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1362C>T	CCDS12427.1																																																																																				0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		3	43	0	0	0	1	0	3	43				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	154	1	0	0.0215528	1	0.0234001	4	154				
TJP2	9414	broad.mit.edu	37	9	71836075	71836075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr9:71836075delG	ENST00000377245.4	+	5	823	c.615delG	c.(613-615)ctgfs	p.L205fs	TJP2_ENST00000453658.2_Frame_Shift_Del_p.L182fs|TJP2_ENST00000265384.7_Frame_Shift_Del_p.L205fs|TJP2_ENST00000535702.1_Frame_Shift_Del_p.L209fs|TJP2_ENST00000348208.4_Frame_Shift_Del_p.L205fs|TJP2_ENST00000539225.1_Frame_Shift_Del_p.L236fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	205					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AGCGGGGCCTGGACCAAGACC	0.756																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(613-615)ctfs		tight junction protein 2							7.0	13.0	11.0					9																	71836075		2094	4125	6219	SO:0001589	frameshift_variant	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71836075delG	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.615delG	9.37:g.71836075delG	ENSP00000366453:p.Leu205fs					TJP2_ENST00000348208.4_Frame_Shift_Del_p.L205fs|TJP2_ENST00000453658.2_Frame_Shift_Del_p.L182fs|TJP2_ENST00000539225.1_Frame_Shift_Del_p.L236fs|TJP2_ENST00000535702.1_Frame_Shift_Del_p.L209fs|TJP2_ENST00000265384.7_Frame_Shift_Del_p.L205fs	p.L205fs	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			5	823	+			205					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Frame_Shift_Del	DEL	ENST00000377245.4	37	c.615delG	CCDS6627.1																																																																																				0.756	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		2	4						2	4	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21542956	21542961	+	In_Frame_Del	DEL	GAGGAG	GAGGAG	-	rs545146973|rs377320500	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr14:21542956_21542961delGAGGAG	ENST00000298694.4	+	3	1194_1199	c.1067_1072delGAGGAG	c.(1066-1074)agaggagga>aga	p.GG361del	ARHGEF40_ENST00000298693.3_In_Frame_Del_p.GG361del			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	361	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GGGGAGCTTAGAGGAGGAGGAGGAGG	0.631														33	0.00658946	0.0234	0.0014	5008	,	,		18693	0.0		0.001	False		,,,				2504	0.0					ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(1066-1074)aga>a		Rho guanine nucleotide exchange factor (GEF) 40				83,28,4151		0,0,83,0,28,2020						3.8	0.1			25	4,43,8199		0,0,4,0,43,4076	no	codingComplex	ARHGEF40	NM_018071.3		0,0,87,0,71,6096	A1A1,A1A2,A1R,A2A2,A2R,RR		0.57,2.6044,1.2632				87,71,12350				SO:0001651	inframe_deletion	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21542956_21542961delGAGGAG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1067_1072delGAGGAG	14.37:g.21542962_21542967delGAGGAG	ENSP00000298694:p.Gly361_Gly362del					ARHGEF40_ENST00000298693.3_In_Frame_Del_p.RGG356del	p.RGG356del			Q8TER5	ARH40_HUMAN			3	1194_1199	+			356			Gly-rich.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Del	DEL	ENST00000298694.4	37	c.1067_1072delGAGGAG	CCDS32041.1																																																																																				0.631	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			4	6						4	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	4						3	4	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-QT-A5XP-01A-11D-A35D-08	TCGA-QT-A5XP-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cf3ec1f-022a-44cd-a51e-d8c01300cc36	b036adde-05e3-4393-9109-b4c1573fc6c7	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			729486							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			4	6						4	6	---	---	---	---
