#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
CNTN4	152330	broad.mit.edu	37	3	2967357	2967357	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:2967357C>G	ENST00000397461.1	+	12	1636	c.1252C>G	c.(1252-1254)Ctt>Gtt	p.L418V	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.L418V|CNTN4_ENST00000418658.1_Missense_Mutation_p.L418V|CNTN4_ENST00000358480.3_Missense_Mutation_p.L199V|CNTN4_ENST00000448906.2_Missense_Mutation_p.L90V|CNTN4_ENST00000397459.2_Missense_Mutation_p.L90V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	418	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGAGTAACTCTTGTCAAAGT	0.363																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1252-1254)Ctt>Gtt		contactin 4							122.0	130.0	128.0					3																	2967357		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2967357C>G	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1252C>G	3.37:g.2967357C>G	ENSP00000380602:p.Leu418Val					CNTN4_ENST00000418658.1_Missense_Mutation_p.L418V|CNTN4_ENST00000397459.2_Missense_Mutation_p.L90V|CNTN4_ENST00000427331.1_Missense_Mutation_p.L418V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.L199V|CNTN4_ENST00000448906.2_Missense_Mutation_p.L90V	p.L418V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	12	1636	+		Ovarian(110;0.156)	418			Ig-like C2-type 5.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1252C>G	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933812	0.34096	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906;ENST00000473845	T;T;T;T;T;T;D	0.95853	1.07;1.07;1.07;1.07;1.07;1.07;-3.83	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	D	0.87059	0.6083	N	0.01705	-0.755	0.58432	D	0.999999	B;B;B	0.24186	0.01;0.018;0.099	B;B;B	0.24006	0.01;0.021;0.05	D	0.83443	0.0044	10	0.13853	T	0.58	.	19.087	0.93206	0.0:1.0:0.0:0.0	.	418;418;418	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	418;418;418;199;90;90;96	ENSP00000396010:L418V;ENSP00000380602:L418V;ENSP00000413642:L418V;ENSP00000351267:L199V;ENSP00000380600:L90V;ENSP00000392077:L90V;ENSP00000422120:L96V	ENSP00000351267:L199V	L	+	1	0	CNTN4	2942357	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	5.329000	0.65892	2.737000	0.93849	0.563000	0.77884	CTT		0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			17	123	0	0	0	1	0	17	123				
AP5M1	55745	broad.mit.edu	37	14	57749707	57749707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:57749707C>T	ENST00000261558.3	+	5	1550	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Nonsense_Mutation_p.R396*	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	382	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TGAAGTATTTCGAGAGAAAAG	0.269																																						ENST00000261558.3																			0											c.(1144-1146)Cga>Tga		adaptor-related protein complex 5, mu 1 subunit							121.0	138.0	132.0					14																	57749707		2203	4298	6501	SO:0001587	stop_gained	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57749707C>T	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1144C>T	14.37:g.57749707C>T	ENSP00000261558:p.Arg382*					AP5M1_ENST00000431972.2_Nonsense_Mutation_p.R396*|AP5M1_ENST00000556723.1_3'UTR	p.R382*	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN			5	1550	+			382			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Nonsense_Mutation	SNP	ENST00000261558.3	37	c.1144C>T	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	39	7.755171	0.98471	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	.	.	.	6.06	5.17	0.71159	.	0.054427	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	14.0281	0.64597	0.3885:0.6115:0.0:0.0	.	.	.	.	X	382;396	.	ENSP00000261558:R382X	R	+	1	2	MUDENG	56819460	0.992000	0.36948	1.000000	0.80357	0.555000	0.35460	1.285000	0.33261	1.554000	0.49487	-0.169000	0.13324	CGA		0.269	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		21	193	0	0	0	1	0	21	193				
GREB1	9687	broad.mit.edu	37	2	11725892	11725892	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:11725892C>T	ENST00000381486.2	+	9	1320	c.1020C>T	c.(1018-1020)agC>agT	p.S340S	GREB1_ENST00000263834.5_Silent_p.S340S|GREB1_ENST00000381483.2_Silent_p.S340S|GREB1_ENST00000234142.5_Silent_p.S340S|RN7SL674P_ENST00000463397.2_RNA	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	340						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCTAGAGAGCGCAGGCATGT	0.537																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1018-1020)agC>agT		growth regulation by estrogen in breast cancer 1							88.0	80.0	83.0					2																	11725892		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11725892C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1020C>T	2.37:g.11725892C>T						GREB1_ENST00000381483.2_Silent_p.S340S|GREB1_ENST00000234142.5_Silent_p.S340S|GREB1_ENST00000263834.5_Silent_p.S340S	p.S340S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	9	1320	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		340					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.1020C>T	CCDS42655.1																																																																																				0.537	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	59	0	0	0	1	0	6	59				
FAT3	120114	broad.mit.edu	37	11	92615993	92615993	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:92615993G>T	ENST00000298047.6	+	23	12388	c.12371G>T	c.(12370-12372)tGc>tTc	p.C4124F	FAT3_ENST00000525166.1_Missense_Mutation_p.C3974F|FAT3_ENST00000409404.2_Missense_Mutation_p.C4124F|FAT3_ENST00000533797.1_Missense_Mutation_p.C459F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4124	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCTGCAACTGCACGCCGGGC	0.632										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12370-12372)tGc>tTc		FAT atypical cadherin 3							64.0	83.0	77.0					11																	92615993		2121	4218	6339	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92615993G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12371G>T	11.37:g.92615993G>T	ENSP00000298047:p.Cys4124Phe	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.C4124F|FAT3_ENST00000533797.1_Missense_Mutation_p.C459F|FAT3_ENST00000525166.1_Missense_Mutation_p.C3974F	p.C4124F			Q8TDW7	FAT3_HUMAN			23	12388	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4124			EGF-like 4; calcium-binding (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12371G>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.674398	0.88445	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.99826	-5.91;-5.91;-5.91;-6.98	5.37	5.37	0.77165	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99919	0.9962	H	0.99555	4.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95994	0.8988	9	0.87932	D	0	.	19.4627	0.94924	0.0:0.0:1.0:0.0	.	4124;4124	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	F	4124;4124;3974;459	ENSP00000298047:C4124F;ENSP00000387040:C4124F;ENSP00000432586:C3974F;ENSP00000436399:C459F	ENSP00000298047:C4124F	C	+	2	0	FAT3	92255641	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.690000	0.98676	2.668000	0.90789	0.655000	0.94253	TGC		0.632	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	19	1	0	0.0381472	1	0.0401908	8	19				
CNTN5	53942	broad.mit.edu	37	11	99690434	99690434	+	Missense_Mutation	SNP	C	C	A	rs201399847		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:99690434C>A	ENST00000524871.1	+	4	505	c.215C>A	c.(214-216)gCa>gAa	p.A72E	CNTN5_ENST00000528682.1_Missense_Mutation_p.A72E|CNTN5_ENST00000527185.1_Missense_Mutation_p.A72E|CNTN5_ENST00000279463.3_Missense_Mutation_p.A72E|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	72					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTAGGGGCAGCTCAGAAT	0.433																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(214-216)gCa>gAa		contactin 5		C	GLU/ALA,	5,3809		0,5,1902	72.0	72.0	72.0		215,	3.2	0.2	11		72	0,8212		0,0,4106	yes	missense,intron	CNTN5	NM_014361.3,NM_175566.2	107,	0,5,6008	AA,AC,CC		0.0,0.1311,0.0416	benign,	72/1101,	99690434	5,12021	1907	4106	6013	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690434C>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.215C>A	11.37:g.99690434C>A	ENSP00000435637:p.Ala72Glu					CNTN5_ENST00000528682.1_Missense_Mutation_p.A72E|CNTN5_ENST00000527185.1_Missense_Mutation_p.A72E|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.A72E	p.A72E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	505	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	72					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.215C>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	2.633	-0.285969	0.05605	0.001311	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.55588	0.51;0.58;0.58;0.58	5.06	3.16	0.36331	.	0.770342	0.12136	N	0.496328	T	0.30293	0.0760	N	0.19112	0.55	0.09310	N	1	B;B	0.27498	0.023;0.18	B;B	0.22601	0.015;0.04	T	0.20672	-1.0268	10	0.06891	T	0.86	.	7.3004	0.26418	0.0:0.708:0.1385:0.1535	.	72;72	E9PKE8;O94779	.;CNTN5_HUMAN	E	72	ENSP00000433575:A72E;ENSP00000436185:A72E;ENSP00000435637:A72E;ENSP00000279463:A72E	ENSP00000279463:A72E	A	+	2	0	CNTN5	99195644	0.020000	0.18652	0.157000	0.22605	0.142000	0.21351	0.919000	0.28692	0.781000	0.33589	-0.145000	0.13849	GCA		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		7	68	1	0	0.0293803	1	0.0312332	7	68				
ZNF813	126017	broad.mit.edu	37	19	53994426	53994426	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:53994426C>G	ENST00000396403.4	+	4	1068	c.940C>G	c.(940-942)Ctt>Gtt	p.L314V	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAATCAAACCTTAAAAGACA	0.398																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(940-942)Ctt>Gtt		zinc finger protein 813							75.0	83.0	80.0					19																	53994426		2192	4295	6487	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994426C>G	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.940C>G	19.37:g.53994426C>G	ENSP00000379684:p.Leu314Val					ZNF813_ENST00000396421.4_Intron	p.L314V	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1068	+			314						Missense_Mutation	SNP	ENST00000396403.4	37	c.940C>G	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	c	13.61	2.287875	0.40494	.	.	ENSG00000198346	ENST00000396403	T	0.52983	0.64	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47691	0.1459	L	0.50847	1.595	0.23298	N	0.997958	P	0.42409	0.779	P	0.49502	0.613	T	0.38735	-0.9647	9	0.87932	D	0	.	5.1925	0.15216	0.0:0.7827:0.0:0.2173	.	314	Q6ZN06	ZN813_HUMAN	V	314	ENSP00000379684:L314V	ENSP00000379684:L314V	L	+	1	0	ZNF813	58686238	0.001000	0.12720	0.041000	0.18516	0.670000	0.39368	-0.053000	0.11846	0.455000	0.26910	0.186000	0.17326	CTT		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		9	171	0	0	0	1	0	9	171				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	36	0	0	0	1	0	5	36				
GADD45B	4616	broad.mit.edu	37	19	2477210	2477210	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:2477210C>T	ENST00000215631.4	+	3	562	c.330C>T	c.(328-330)ggC>ggT	p.G110G	GADD45B_ENST00000587345.1_Silent_p.G110G	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN	growth arrest and DNA-damage-inducible, beta	110					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCCAGGGCACCACCGAGG	0.672											OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000215631.4																			0				cervix(2)|lung(1)|ovary(1)	4						c.(328-330)ggC>ggT		growth arrest and DNA-damage-inducible, beta							45.0	40.0	42.0					19																	2477210		2202	4298	6500	SO:0001819	synonymous_variant	4616				activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress			g.chr19:2477210C>T	AF090950	CCDS32868.1	19p13.3	2012-10-02			ENSG00000099860	ENSG00000099860			4096	protein-coding gene	gene with protein product	"""myeloid differentiation primary response"", ""growth arrest and DNA-damage-inducible beta"""	604948		MYD118		1899477, 9827804	Standard	NM_015675		Approved	GADD45BETA, DKFZP566B133	uc002lwb.2	O75293	OTTHUMG00000180434	ENST00000215631.4:c.330C>T	19.37:g.2477210C>T			OREG0025141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	603	GADD45B_ENST00000587345.1_Silent_p.G110G	p.G110G	NM_015675.3	NP_056490.2	O75293	GA45B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	562	+		Hepatocellular(1079;0.137)	110					A8KAM2|O75960|Q17R46	Silent	SNP	ENST00000215631.4	37	c.330C>T	CCDS32868.1																																																																																				0.672	GADD45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451337.1	NM_015675		9	43	0	0	0	1	0	9	43				
XIRP2	129446	broad.mit.edu	37	2	168101531	168101531	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:168101531A>T	ENST00000409195.1	+	9	3718	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D988V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1210V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1035					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTCCTTAGATTCTATAAGT	0.328																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(3628-3630)gAt>gTt		xin actin-binding repeat containing 2							52.0	49.0	50.0					2																	168101531		1809	4070	5879	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101531A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3629A>T	2.37:g.168101531A>T	ENSP00000386840:p.Asp1210Val					XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D988V|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1210V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	p.D1210V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	3718	+			1035					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3629A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713071	0.48517	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04551	3.61;3.61;3.6	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.83275	0.902;0.996;0.996	T	0.00872	-1.1532	10	0.87932	D	0	-21.2712	15.0621	0.71964	1.0:0.0:0.0:0.0	.	1035;1035;988	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	1210;1210;988	ENSP00000386840:D1210V;ENSP00000295237:D1210V;ENSP00000387255:D988V	ENSP00000295237:D1210V	D	+	2	0	XIRP2	167809777	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.172000	0.77604	2.206000	0.71126	0.533000	0.62120	GAT		0.328	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		19	48	0	0	0	1	0	19	48				
POLR1E	64425	broad.mit.edu	37	9	37486603	37486603	+	Missense_Mutation	SNP	A	A	G	rs1571234	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr9:37486603A>G	ENST00000377792.3	+	1	454	c.166A>G	c.(166-168)Aca>Gca	p.T56A	POLR1E_ENST00000442009.2_Intron|POLR1E_ENST00000377798.4_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCCCATTCTGACACTCCCTCC	0.562													A|||	2392	0.477636	0.5681	0.4553	5008	,	,		2358	0.2887		0.5427	False		,,,				2504	0.499				Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(166-168)Aca>Gca		polymerase (RNA) I polypeptide E, 53kDa																																				SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486603A>G	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377792.3:c.166A>G	9.37:g.37486603A>G	ENSP00000367023:p.Thr56Ala					POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron	p.T56A			Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	454	+			56	T -> A (in Ref. 1; BAC03629).				O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377792.3	37	c.166A>G		1050	0.4807692307692308	282	0.573170731707317	183	0.505524861878453	169	0.29545454545454547	416	0.5488126649076517	A	11.71	1.720186	0.30503	.	.	ENSG00000137054	ENST00000377792	T	0.26373	1.74	3.22	-6.45	0.01914	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	7	0.40728	T	0.16	.	1.425	0.02321	0.1477:0.1657:0.3478:0.3387	rs1571234;rs52808690;rs60018035;rs1571234	56	Q9GZS1	RPA49_HUMAN	A	56	ENSP00000367023:T56A	ENSP00000367023:T56A	T	+	1	0	POLR1E	37476603	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.172000	0.01266	-1.639000	0.01527	0.454000	0.30748	ACA		0.562	POLR1E-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052465.1	NM_022490		6	51	0	0	0	1	0	6	51				
BPIFB4	149954	broad.mit.edu	37	20	31685464	31685464	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:31685464G>T	ENST00000375483.3	+	11	1440	c.1440G>T	c.(1438-1440)agG>agT	p.R480S		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	480						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTATCATCAGGATCCAGGTGC	0.602																																						ENST00000375483.3																			0											c.(1438-1440)agG>agT		BPI fold containing family B, member 4							162.0	139.0	147.0					20																	31685464		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31685464G>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1440G>T	20.37:g.31685464G>T	ENSP00000364632:p.Arg480Ser						p.R480S	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			11	1440	+			480					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.1440G>T	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203366	0.38905	.	.	ENSG00000186191	ENST00000375483	T	0.08282	3.11	5.44	4.47	0.54385	.	0.297294	0.33127	N	0.005257	T	0.06917	0.0176	L	0.31926	0.97	0.33510	D	0.590991	B	0.28128	0.201	B	0.28385	0.089	T	0.15636	-1.0430	10	0.22109	T	0.4	-11.2746	10.6602	0.45698	0.0932:0.0:0.9068:0.0	.	480	P59827	BPIB4_HUMAN	S	480	ENSP00000364632:R480S	ENSP00000364632:R480S	R	+	3	2	BPIFB4	31149125	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.802000	0.38853	2.711000	0.92665	0.462000	0.41574	AGG		0.602	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		9	179	1	0	0.0581538	1	0.0607269	9	179				
AGPAT3	56894	broad.mit.edu	37	21	45389028	45389028	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr21:45389028G>T	ENST00000398063.2	+	4	870	c.378G>T	c.(376-378)ctG>ctT	p.L126L	AGPAT3_ENST00000327505.2_Silent_p.L126L|AGPAT3_ENST00000546158.1_Silent_p.L126L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Silent_p.L126L|AGPAT3_ENST00000398058.1_Silent_p.L126L|AGPAT3_ENST00000291572.8_Silent_p.L126L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	126					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGAAGGAGCTGCTCTACGTGC	0.627																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(376-378)ctG>ctT		1-acylglycerol-3-phosphate O-acyltransferase 3							126.0	101.0	109.0					21																	45389028		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45389028G>T	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.378G>T	21.37:g.45389028G>T						AGPAT3_ENST00000398058.1_Silent_p.L126L|AGPAT3_ENST00000291572.8_Silent_p.L126L|AGPAT3_ENST00000327505.2_Silent_p.L126L|AGPAT3_ENST00000546158.1_Silent_p.L126L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Silent_p.L126L	p.L126L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	4	870	+			126					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.378G>T	CCDS13703.1																																																																																				0.627	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		9	62	1	0	0.00448238	1	0.00485249	9	62				
ZSCAN18	65982	broad.mit.edu	37	19	58596344	58596344	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:58596344G>A	ENST00000240727.6	-	7	1640	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A278V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A470V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A414V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	414					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCGCCGCAGGCATAGGGCTT	0.726																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1240-1242)gCc>gTc		zinc finger and SCAN domain containing 18							13.0	14.0	13.0					19																	58596344		2196	4283	6479	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596344G>A	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1241C>T	19.37:g.58596344G>A	ENSP00000240727:p.Ala414Val					ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A278V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A414V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A470V	p.A414V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1640	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	414					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1241C>T	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	2.848	-0.238947	0.05944	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.07688	3.17;3.17	3.86	-2.62	0.06152	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.256910	0.05917	N	0.632726	T	0.05640	0.0148	L	0.27975	0.815	0.09310	N	1	B;B;B;B	0.26445	0.068;0.149;0.055;0.068	B;B;B;B	0.19666	0.026;0.026;0.009;0.015	T	0.41645	-0.9497	10	0.46703	T	0.11	-0.1476	4.7365	0.12991	0.2966:0.0:0.5618:0.1415	.	470;278;413;414	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	470;414;278	ENSP00000240727:A414V;ENSP00000392653:A278V	ENSP00000240727:A414V	A	-	2	0	ZSCAN18	63288156	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-1.311000	0.02723	-0.455000	0.07054	0.561000	0.74099	GCC		0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		3	19	0	0	0	1	0	3	19				
ZBED2	79413	broad.mit.edu	37	3	111312457	111312457	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:111312457C>G	ENST00000317012.4	-	2	1600	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	198							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						GCCTCCTTCTCAGCCCTCACC	0.532																																						ENST00000317012.4																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(592-594)Gag>Cag		zinc finger, BED-type containing 2							84.0	74.0	77.0					3																	111312457		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312457C>G	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.592G>C	3.37:g.111312457C>G	ENSP00000321370:p.Glu198Gln					CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	p.E198Q	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN			2	1600	-			198					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.592G>C	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010545	0.75046	.	.	ENSG00000177494	ENST00000317012	.	.	.	4.17	4.17	0.49024	.	0.000000	0.39146	U	0.001460	T	0.38532	0.1044	L	0.59436	1.845	0.23611	N	0.997296	P	0.45348	0.856	B	0.39152	0.292	T	0.47459	-0.9116	9	0.87932	D	0	-6.2579	12.1999	0.54319	0.0:1.0:0.0:0.0	.	198	Q9BTP6	ZBED2_HUMAN	Q	198	.	ENSP00000321370:E198Q	E	-	1	0	ZBED2	112795147	0.081000	0.21417	1.000000	0.80357	0.925000	0.55904	1.940000	0.40223	2.321000	0.78463	0.585000	0.79938	GAG		0.532	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		16	98	0	0	0	1	0	16	98				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	39	0	0	0	1	0	5	39				
PARP3	10039	broad.mit.edu	37	3	51981894	51981894	+	Missense_Mutation	SNP	G	G	A	rs200954849	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:51981894G>A	ENST00000417220.2	+	11	1903	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	PARP3_ENST00000398755.3_Missense_Mutation_p.R479Q|PARP3_ENST00000431474.1_Missense_Mutation_p.R472Q|PARP3_ENST00000486510.1_3'UTR			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	472	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCATTGCCCGAGGCCACACC	0.607													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17174	0.0		0.0	False		,,,				2504	0.0					ENST00000417220.2																			0				ovary(1)	1						c.(1414-1416)cGa>cAa		poly (ADP-ribose) polymerase family, member 3		G	GLN/ARG,GLN/ARG	11,3975		0,11,1982	127.0	120.0	123.0		1436,1415	4.3	1.0	3		123	0,8332		0,0,4166	yes	missense,missense	PARP3	NM_001003931.2,NM_005485.4	43,43	0,11,6148	AA,AG,GG		0.0,0.276,0.0893	possibly-damaging,possibly-damaging	479/541,472/534	51981894	11,12307	1993	4166	6159	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51981894G>A	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1415G>A	3.37:g.51981894G>A	ENSP00000395951:p.Arg472Gln					PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Missense_Mutation_p.R472Q|PARP3_ENST00000398755.3_Missense_Mutation_p.R479Q	p.R472Q			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	1903	+			472			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.1415G>A	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446130	0.63178	0.00276	0.0	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.14391	2.51;2.51;2.51	5.2	4.33	0.51752	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.065700	0.64402	N	0.000006	T	0.10508	0.0257	L	0.59967	1.855	0.52501	D	0.999951	P;P	0.47762	0.9;0.571	B;B	0.27076	0.07;0.076	T	0.21930	-1.0231	10	0.18276	T	0.48	-4.4329	13.202	0.59774	0.0777:0.0:0.9223:0.0	.	479;472	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	Q	472;472;479	ENSP00000395951:R472Q;ENSP00000401511:R472Q;ENSP00000381740:R479Q	ENSP00000381740:R479Q	R	+	2	0	PARP3	51956934	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.326000	0.52037	1.204000	0.43247	0.561000	0.74099	CGA		0.607	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		21	169	0	0	0	1	0	21	169				
FBXL20	84961	broad.mit.edu	37	17	37453402	37453402	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:37453402C>G	ENST00000264658.6	-	6	636	c.376G>C	c.(376-378)Ggg>Cgg	p.G126R	FBXL20_ENST00000583610.1_Missense_Mutation_p.G126R|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128R|AC005288.1_ENST00000584584.1_RNA|FBXL20_ENST00000394294.3_Missense_Mutation_p.G126R	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	126					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTTGTACACCCATTTAGATTC	0.368																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(376-378)Ggg>Cgg		F-box and leucine-rich repeat protein 20							126.0	112.0	117.0					17																	37453402		2202	4299	6501	SO:0001583	missense	84961					cytoplasm		g.chr17:37453402C>G	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.376G>C	17.37:g.37453402C>G	ENSP00000264658:p.Gly126Arg					FBXL20_ENST00000583610.1_Missense_Mutation_p.G126R|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128R|FBXL20_ENST00000394294.3_Missense_Mutation_p.G126R	p.G126R	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		6	636	-			126					A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.376G>C	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193849	0.58017	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.54675	4.33;0.56	5.34	5.34	0.76211	.	0.099149	0.64402	D	0.000002	T	0.65995	0.2745	L	0.59912	1.85	0.80722	D	1	P;B	0.48407	0.91;0.122	P;B	0.56823	0.807;0.128	T	0.65961	-0.6041	10	0.52906	T	0.07	.	17.5917	0.87998	0.0:1.0:0.0:0.0	.	126;126	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	R	126	ENSP00000264658:G126R;ENSP00000377832:G126R	ENSP00000264658:G126R	G	-	1	0	FBXL20	34706928	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.255000	0.78338	2.651000	0.90000	0.585000	0.79938	GGG		0.368	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		5	50	0	0	0	1	0	5	50				
ZCCHC11	23318	broad.mit.edu	37	1	52896752	52896752	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:52896752G>A	ENST00000371544.3	-	28	4903	c.4641C>T	c.(4639-4641)caC>caT	p.H1547H	ZCCHC11_ENST00000257177.4_Silent_p.H1548H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1547	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTGTCCATCGTGAGACGTGT	0.512																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4639-4641)caC>caT		zinc finger, CCHC domain containing 11							109.0	102.0	104.0					1																	52896752		2203	4300	6503	SO:0001819	synonymous_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52896752G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4641C>T	1.37:g.52896752G>A						ZCCHC11_ENST00000257177.4_Silent_p.H1548H	p.H1547H	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			28	4903	-			1547			Pro-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	c.4641C>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.593|1.593	-0.528527|-0.528527	0.04112|0.04112	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000528457|ENST00000494469;ENST00000471623	.|.	.|.	.|.	5.38|5.38	-0.314|-0.314	0.12750|0.12750	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57169	.|0.2035	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52230	.|-0.8603	.|4	.|.	.|.	.|.	.|.	10.039|10.039	0.42146|0.42146	0.5732:0.0:0.4268:0.0|0.5732:0.0:0.4268:0.0	.|.	.|.	.|.	.|.	X|M	50|54;1	.|.	.|.	R|T	-|-	1|2	2|0	ZCCHC11|ZCCHC11	52669340|52669340	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.346000|0.346000	0.29079|0.29079	0.954000|0.954000	0.29175|0.29175	0.021000|0.021000	0.15133|0.15133	-1.008000|-1.008000	0.02478|0.02478	CGA|ACG		0.512	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		10	84	0	0	0	1	0	10	84				
CSNK1A1L	122011	broad.mit.edu	37	13	37678603	37678603	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:37678603C>T	ENST00000379800.3	-	1	1200	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCGCAGCCCACGACAGTAGTT	0.428																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(790-792)cGt>cAt		casein kinase 1, alpha 1-like							147.0	139.0	142.0					13																	37678603		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678603C>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.791G>A	13.37:g.37678603C>T	ENSP00000369126:p.Arg264His						p.R264H	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1200	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	264			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.791G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990123	0.54041	.	.	ENSG00000180138	ENST00000379800	T	0.10960	2.82	1.74	1.74	0.24563	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	M	0.89030	3	0.51012	D	0.999908	P	0.39809	0.689	B	0.30572	0.117	T	0.10847	-1.0612	10	0.59425	D	0.04	.	9.4321	0.38617	0.0:1.0:0.0:0.0	.	264	Q8N752	KC1AL_HUMAN	H	264	ENSP00000369126:R264H	ENSP00000369126:R264H	R	-	2	0	CSNK1A1L	36576603	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.835000	0.55805	0.871000	0.35750	0.561000	0.74099	CGT		0.428	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		11	127	0	0	0	1	0	11	127				
BPHL	670	broad.mit.edu	37	6	3140675	3140675	+	Silent	SNP	C	C	T	rs553521784	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:3140675C>T	ENST00000380379.5	+	6	769	c.720C>T	c.(718-720)caC>caT	p.H240H	RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Silent_p.H223H|BPHL_ENST00000380375.3_Silent_p.H223H	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	240					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGATTGTGCACGGTGAGAAGG	0.572													C|||	3	0.000599042	0.0	0.0	5008	,	,		18305	0.0		0.0	False		,,,				2504	0.0031					ENST00000380375.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13						c.(667-669)caC>caT		biphenyl hydrolase-like (serine hydrolase)							188.0	172.0	177.0					6																	3140675		2203	4300	6503	SO:0001819	synonymous_variant	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3140675C>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.720C>T	6.37:g.3140675C>T						BPHL_ENST00000380379.5_Silent_p.H240H|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Silent_p.H223H	p.H223H			Q86WA6	BPHL_HUMAN			7	1313	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	240					Q00306|Q13855|Q3KP51	Silent	SNP	ENST00000380379.5	37	c.669C>T	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	C	8.287	0.816956	0.16607	.	.	ENSG00000137274	ENST00000423798	.	.	.	5.56	-9.63	0.00544	.	.	.	.	.	T	0.48804	0.1520	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68834	-0.5304	4	.	.	.	-2.6145	17.1801	0.86852	0.0:0.1284:0.0:0.8716	.	.	.	.	M	6	.	.	T	+	2	0	BPHL	3085674	0.192000	0.23301	0.290000	0.24890	0.767000	0.43475	-1.016000	0.03633	-1.874000	0.01133	-1.202000	0.01658	ACG		0.572	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			56	171	0	0	0	1	0	56	171				
GPR83	10888	broad.mit.edu	37	11	94113654	94113654	+	Silent	SNP	G	G	A	rs377656693	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:94113654G>A	ENST00000243673.2	-	4	1104	c.933C>T	c.(931-933)taC>taT	p.Y311Y	GPR83_ENST00000539203.2_Silent_p.Y269Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	311					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAGGAGGACGTAGCAGTTGA	0.527													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21310	0.0		0.0	False		,,,				2504	0.001					ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(931-933)taC>taT		G protein-coupled receptor 83		G		1,4401	2.1+/-5.4	0,1,2200	147.0	109.0	122.0		933	-5.2	1.0	11		122	0,8596		0,0,4298	no	coding-synonymous	GPR83	NM_016540.3		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		311/424	94113654	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113654G>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.933C>T	11.37:g.94113654G>A						GPR83_ENST00000539203.2_Silent_p.Y269Y	p.Y311Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	1104	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	311					B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.933C>T	CCDS8297.1																																																																																				0.527	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		25	95	0	0	0	1	0	25	95				
DUSP27	92235	broad.mit.edu	37	1	167095194	167095194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:167095194G>T	ENST00000361200.2	+	6	992	c.826G>T	c.(826-828)Gag>Tag	p.E276*	DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E276*|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E276*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	276					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGCTCAATGAGAAGTTGAT	0.602																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(826-828)Gag>Tag		dual specificity phosphatase 27 (putative)							64.0	66.0	65.0					1																	167095194		2203	4300	6503	SO:0001587	stop_gained	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095194G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.826G>T	1.37:g.167095194G>T	ENSP00000354483:p.Glu276*					DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E276*|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E276*	p.E276*			Q5VZP5	DUS27_HUMAN			6	992	+			276					A0AUM4|Q9C074	Nonsense_Mutation	SNP	ENST00000361200.2	37	c.826G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	41	8.832225	0.98970	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.55	5.55	0.83447	.	0.119337	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-25.3644	19.509	0.95133	0.0:0.0:1.0:0.0	.	.	.	.	X	276	.	ENSP00000271385:E276X	E	+	1	0	DUSP27	165361818	1.000000	0.71417	0.942000	0.38095	0.945000	0.59286	9.466000	0.97665	2.593000	0.87608	0.643000	0.83706	GAG		0.602	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		12	68	1	0	0.00136819	1	0.00149488	12	68				
TECPR1	25851	broad.mit.edu	37	7	97852365	97852365	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:97852365G>T	ENST00000447648.2	-	21	3164	c.2865C>A	c.(2863-2865)ctC>ctA	p.L955L	TECPR1_ENST00000379795.3_Silent_p.L957L|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	955					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGACGGCCCAGAGGGCGATGC	0.677																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2863-2865)ctC>ctA		tectonin beta-propeller repeat containing 1							17.0	22.0	20.0					7																	97852365		2047	4177	6224	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97852365G>T		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2865C>A	7.37:g.97852365G>T						TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.L957L	p.L955L			Q7Z6L1	TCPR1_HUMAN			21	3164	-			955					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.2865C>A	CCDS47648.1																																																																																				0.677	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		4	12	1	0	0.00909568	1	0.00975718	4	12				
TRANK1	9881	broad.mit.edu	37	3	36875084	36875084	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:36875084C>T	ENST00000429976.2	-	21	6105	c.5858G>A	c.(5857-5859)cGc>cAc	p.R1953H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1403H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1403H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1953							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACATTGAGGCGGGCGGCCCC	0.577																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4207-4209)cGc>cAc		tetratricopeptide repeat and ankyrin repeat containing 1							36.0	38.0	37.0					3																	36875084		1937	4127	6064	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875084C>T	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5858G>A	3.37:g.36875084C>T	ENSP00000416168:p.Arg1953His					TRANK1_ENST00000429976.2_Missense_Mutation_p.R1953H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1403H	p.R1403H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	6105	-			1953					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4208G>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564878	0.65651	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.37584	1.19;1.6;1.19	5.02	5.02	0.67125	.	0.000000	0.48286	D	0.000185	T	0.47507	0.1449	L	0.36672	1.1	0.38828	D	0.955788	D	0.89917	1.0	D	0.68621	0.959	T	0.51012	-0.8759	10	0.87932	D	0	.	12.1361	0.53972	0.0:0.9215:0.0:0.0785	.	1953	O15050	TRNK1_HUMAN	H	1403;1953;1403	ENSP00000416826:R1403H;ENSP00000416168:R1953H;ENSP00000301807:R1403H	ENSP00000301807:R1403H	R	-	2	0	TRANK1	36850088	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	4.036000	0.57304	2.507000	0.84556	0.561000	0.74099	CGC		0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	37	0	0	0	1	0	5	37				
SEC23A	10484	broad.mit.edu	37	14	39545272	39545272	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:39545272C>T	ENST00000307712.6	-	8	1371	c.854G>A	c.(853-855)cGt>cAt	p.R285H	SEC23A_ENST00000536508.1_Missense_Mutation_p.R159H|SEC23A_ENST00000537403.1_Missense_Mutation_p.R83H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R256H	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	285					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATCATGATACGAGCACCAGT	0.353																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(247-249)cGt>cAt		Sec23 homolog A (S. cerevisiae)							72.0	63.0	66.0					14																	39545272		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39545272C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.854G>A	14.37:g.39545272C>T	ENSP00000306881:p.Arg285His					SEC23A_ENST00000536508.1_Missense_Mutation_p.R159H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R256H|SEC23A_ENST00000307712.6_Missense_Mutation_p.R285H	p.R83H			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	4	1450	-	Hepatocellular(127;0.213)		285					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.248G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984053	0.93044	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.53	4.64	0.57946	Sec23/Sec24, trunk domain (1);	0.109561	0.64402	N	0.000004	D	0.88746	0.6520	M	0.82323	2.585	0.80722	D	1	D;P;D;D	0.69078	0.997;0.952;0.992;0.994	P;P;P;P	0.62649	0.905;0.514;0.761;0.846	D	0.89361	0.3668	10	0.46703	T	0.11	-9.3971	14.4165	0.67153	0.0:0.9292:0.0:0.0708	.	173;256;159;285	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	H	83;285;159;256;173	ENSP00000444193:R83H;ENSP00000306881:R285H;ENSP00000437715:R159H;ENSP00000445393:R256H	ENSP00000306881:R285H	R	-	2	0	SEC23A	38615023	0.995000	0.38212	0.989000	0.46669	0.957000	0.61999	3.180000	0.50895	1.471000	0.48121	0.655000	0.94253	CGT		0.353	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			6	55	0	0	0	1	0	6	55				
USP54	159195	broad.mit.edu	37	10	75331243	75331243	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr10:75331243C>T	ENST00000339859.4	-	3	276	c.176G>A	c.(175-177)cGt>cAt	p.R59H	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R59H|USP54_ENST00000319786.7_Missense_Mutation_p.R59H|USP54_ENST00000408019.1_Missense_Mutation_p.R59H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	59	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTAAAGCTACGTCGGAAGAT	0.363																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(175-177)cGt>cAt		ubiquitin specific peptidase 54							105.0	95.0	98.0					10																	75331243		1906	4123	6029	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75331243C>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.176G>A	10.37:g.75331243C>T	ENSP00000345216:p.Arg59His					USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R59H|USP54_ENST00000319786.7_Missense_Mutation_p.R59H|USP54_ENST00000408019.1_Missense_Mutation_p.R59H	p.R59H			Q70EL1	UBP54_HUMAN			3	276	-	Prostate(51;0.0112)		59					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.176G>A	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484173	0.84854	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786;ENST00000451492;ENST00000413442;ENST00000433394	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;3.39	5.61	5.61	0.85477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.56949	0.2020	M	0.69358	2.11	0.51012	D	0.999909	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.53493	-0.8431	10	0.51188	T	0.08	-7.8052	20.0016	0.97412	0.0:1.0:0.0:0.0	.	59;59;59	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	H	59	ENSP00000345216:R59H;ENSP00000386080:R59H;ENSP00000408714:R59H;ENSP00000326547:R59H;ENSP00000402435:R59H;ENSP00000404710:R59H;ENSP00000407245:R59H	ENSP00000326547:R59H	R	-	2	0	USP54	75001249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.401000	0.79962	2.802000	0.96397	0.655000	0.94253	CGT		0.363	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		9	80	0	0	0	1	0	9	80				
ZNF404	342908	broad.mit.edu	37	19	44377555	44377555	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:44377555A>G	ENST00000587539.1	-	3	810	c.811T>C	c.(811-813)Tac>Cac	p.Y271H	ZNF404_ENST00000324394.6_Missense_Mutation_p.Y269H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TTACATTTGTAGGGTTTCACA	0.358																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(811-813)Tac>Cac		zinc finger protein 404							43.0	44.0	44.0					19																	44377555		2037	4222	6259	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377555A>G	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.811T>C	19.37:g.44377555A>G	ENSP00000466051:p.Tyr271His					ZNF404_ENST00000324394.6_Missense_Mutation_p.Y269H	p.Y271H	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	810	-		Prostate(69;0.0352)	271					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.811T>C	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	A	8.072	0.770448	0.15983	.	.	ENSG00000176222	ENST00000324394	T	0.21734	1.99	2.01	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31857	0.0810	L	0.35288	1.05	0.23260	N	0.998024	D	0.89917	1.0	D	0.81914	0.995	T	0.07009	-1.0795	9	0.72032	D	0.01	.	9.293	0.37797	1.0:0.0:0.0:0.0	.	271	Q494X3	ZN404_HUMAN	H	269	ENSP00000319479:Y269H	ENSP00000319479:Y269H	Y	-	1	0	ZNF404	49069395	0.644000	0.27277	0.824000	0.32777	0.308000	0.27856	6.000000	0.70678	1.168000	0.42723	0.332000	0.21555	TAC		0.358	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		16	75	0	0	0	1	0	16	75				
ABCG5	64240	broad.mit.edu	37	2	44065004	44065004	+	Silent	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:44065004G>A	ENST00000260645.1	-	2	373	c.234C>T	c.(232-234)agC>agT	p.S78S	ABCG8_ENST00000272286.2_5'Flank|ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	78	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)	p.S78R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGATCTGCCCGCTCTCCACGT	0.502																																						ENST00000260645.1																			1	Substitution - Missense(1)	p.S78R(1)	lung(1)	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(232-234)agC>agT		ATP-binding cassette, sub-family G (WHITE), member 5							128.0	117.0	121.0					2																	44065004		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44065004G>A	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.234C>T	2.37:g.44065004G>A						ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	p.S78S	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN			2	373	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	78			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.234C>T	CCDS1814.1																																																																																				0.502	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		17	85	0	0	0	1	0	17	85				
CENPT	80152	broad.mit.edu	37	16	67860095	67860095	+	IGR	SNP	T	T	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:67860095T>G	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000388833.3_Silent_p.A341A|TSNAXIP1_ENST00000415766.3_Silent_p.A326A|TSNAXIP1_ENST00000561639.1_Silent_p.A395A	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGATGCTGGCTGAGGGCAAGA	0.637																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(1021-1023)gcT>gcG		translin-associated factor X interacting protein 1							44.0	47.0	46.0					16																	67860095		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67860095T>G	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67860095T>G						TSNAXIP1_ENST00000415766.3_Silent_p.A326A|TSNAXIP1_ENST00000561639.1_Silent_p.A395A	p.A341A	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	10	1400	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	341					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.1023T>G	CCDS42182.1																																																																																				0.637	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		13	61	0	0	0	1	0	13	61				
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						ENST00000391413.2																			5	Substitution - Missense(5)	p.R121K(5)	lung(2)|prostate(1)|kidney(1)|skin(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(361-363)aGa>aAa		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	400	-		Breast(137;0.000496)	121			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	46	0	0	0	1	0	5	46				
DDX3X	1654	broad.mit.edu	37	X	41206679	41206679	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chrX:41206679C>T	ENST00000399959.2	+	16	2739	c.1884C>T	c.(1882-1884)caC>caT	p.H628H	DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Silent_p.H612H	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	628	Gly/Ser-rich.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gaggtggccacggtagcagca	0.512										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1882-1884)caC>caT		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							41.0	51.0	48.0					X																	41206679		2198	4299	6497	SO:0001819	synonymous_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41206679C>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1884C>T	X.37:g.41206679C>T		HNSCC(61;0.18)				DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Silent_p.H612H|DDX3X_ENST00000478993.1_3'UTR	p.H628H	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			16	2739	+			628			Gly/Ser-rich.		A8K538|B4E3E8|O15536	Silent	SNP	ENST00000399959.2	37	c.1884C>T	CCDS43931.1																																																																																				0.512	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		22	100	0	0	0	1	0	22	100				
DCAF6	55827	broad.mit.edu	37	1	168013891	168013891	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:168013891G>A	ENST00000312263.6	+	13	1885	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	DCAF6_ENST00000367840.3_Missense_Mutation_p.E638K|DCAF6_ENST00000432587.2_Missense_Mutation_p.E607K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E581K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	561					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AAACCCAGTTGAGAACCATAT	0.363																																						ENST00000367840.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1912-1914)Gag>Aag		DDB1 and CUL4 associated factor 6							101.0	101.0	101.0					1																	168013891		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168013891G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1681G>A	1.37:g.168013891G>A	ENSP00000311949:p.Glu561Lys					DCAF6_ENST00000432587.2_Missense_Mutation_p.E607K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E581K|DCAF6_ENST00000312263.6_Missense_Mutation_p.E561K	p.E638K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			15	2006	+			584					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1912G>A	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721880	0.30503	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.53	-1.12	0.09808	WD40 repeat-like-containing domain (1);	1.308020	0.04997	N	0.468421	T	0.09730	0.0239	N	0.14661	0.345	0.22541	N	0.999005	B;B;B;B	0.20368	0.009;0.012;0.044;0.027	B;B;B;B	0.16289	0.005;0.014;0.014;0.015	T	0.34428	-0.9829	9	0.59425	D	0.04	.	17.0596	0.86543	0.0:0.2542:0.7458:0.0	.	607;638;561;581	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	K	581;607;561;638	ENSP00000356817:E581K;ENSP00000396238:E607K;ENSP00000311949:E561K;ENSP00000356814:E638K	ENSP00000311949:E561K	E	+	1	0	DCAF6	166280515	0.008000	0.16893	0.000000	0.03702	0.406000	0.30931	0.070000	0.14573	-0.422000	0.07405	-0.232000	0.12228	GAG		0.363	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		19	78	0	0	0	1	0	19	78				
USP6	9098	broad.mit.edu	37	17	5042397	5042397	+	Intron	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:5042397G>T	ENST00000574788.1	+	22	3308				USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Intron|USP6_ENST00000304328.5_Silent_p.L16L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6						cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCCCTCTGGGATCAGCAG	0.662			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000304328.5				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(46-48)ctG>ctT		ubiquitin specific peptidase 6 (Tre-2 oncogene)							25.0	26.0	26.0					17																	5042397		876	1991	2867	SO:0001627	intron_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042397G>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1079-153G>T	17.37:g.5042397G>T						USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Intron|USP6_ENST00000574788.1_Intron	p.L16L			P35125	UBP6_HUMAN			14	2909	+			0					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.48G>T	CCDS11069.2																																																																																				0.662	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		4	36	1	0	1	1	1	4	36				
REG1P	5969	broad.mit.edu	37	2	79365148	79365148	+	RNA	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:79365148C>A	ENST00000444841.1	-	0	110									regenerating islet-derived 1 pseudogene																		ATGAGTTGGTCTGAGCCATGC	0.498																																						ENST00000444841.1																			0																																																			5969							g.chr2:79365148C>A			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365148C>A														0	110	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.498	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		5	14	1	0	0.184627	1	0.186205	5	14				
RASGRF2	5924	broad.mit.edu	37	5	80381703	80381703	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:80381703C>T	ENST00000265080.4	+	8	1311	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	415	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGAGTTTGCCAAATCAAAG	0.463																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1243-1245)gCc>gTc		Ras protein-specific guanine nucleotide-releasing factor 2							108.0	109.0	109.0					5																	80381703		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80381703C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1244C>T	5.37:g.80381703C>T	ENSP00000265080:p.Ala415Val					RASGRF2_ENST00000502677.1_3'UTR	p.A415V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	8	1311	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	415			DH.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1244C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431750	0.96150	.	.	ENSG00000113319	ENST00000265080	T	0.76316	-1.01	5.57	5.57	0.84162	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.982	D	0.88464	0.3057	10	0.45353	T	0.12	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	415;415	D6RAS9;O14827	.;RGRF2_HUMAN	V	415	ENSP00000265080:A415V	ENSP00000265080:A415V	A	+	2	0	RASGRF2	80417459	1.000000	0.71417	0.993000	0.49108	0.839000	0.47603	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCC		0.463	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		19	65	0	0	0	1	0	19	65				
PCSK2	5126	broad.mit.edu	37	20	17341192	17341192	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:17341192G>T	ENST00000262545.2	+	4	727	c.412G>T	c.(412-414)Gct>Tct	p.A138S	PCSK2_ENST00000536609.1_Missense_Mutation_p.A103S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A119S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	138					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TACTGGGCAAGCTGATGGCAC	0.428																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(412-414)Gct>Tct		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						97.0	88.0	91.0					20																	17341192		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17341192G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.412G>T	20.37:g.17341192G>T	ENSP00000262545:p.Ala138Ser					PCSK2_ENST00000536609.1_Missense_Mutation_p.A103S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A119S	p.A138S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			4	727	+			138			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.412G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	15.10	2.731973	0.48939	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.72051	-0.43;-0.44;-0.62	5.95	5.95	0.96441	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	L	0.33792	1.035	0.80722	D	1	B;B	0.28880	0.058;0.226	B;B	0.32533	0.083;0.147	T	0.56414	-0.7983	10	0.08599	T	0.76	-16.9598	17.8686	0.88804	0.0:0.0:1.0:0.0	.	103;138	B4DFQ3;P16519	.;NEC2_HUMAN	S	119;138;103	ENSP00000367131:A119S;ENSP00000262545:A138S;ENSP00000437458:A103S	ENSP00000262545:A138S	A	+	1	0	PCSK2	17289192	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.370000	0.97159	2.817000	0.96982	0.563000	0.77884	GCT		0.428	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		4	10	1	0	0.00024832	1	0.000279064	4	10				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	34	0	0	0	1	0	20	34				
CACNA1C	775	broad.mit.edu	37	12	2778131	2778131	+	Silent	SNP	C	C	T	rs372600490		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:2778131C>T	ENST00000347598.4	+	40	4800	c.4800C>T	c.(4798-4800)agC>agT	p.S1600S	CACNA1C_ENST00000344100.3_Silent_p.S1574S|CACNA1C_ENST00000399629.1_Silent_p.S1569S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399634.1_Silent_p.S1552S|CACNA1C_ENST00000399595.1_Silent_p.S1541S|CACNA1C_ENST00000399603.1_Silent_p.S1552S|CACNA1C_ENST00000327702.7_Silent_p.S1552S|CACNA1C_ENST00000399649.1_Silent_p.S1539S|CACNA1C_ENST00000399638.1_Silent_p.S1580S|CACNA1C_ENST00000399621.1_Silent_p.S1552S|CACNA1C_ENST00000399591.1_Silent_p.S1541S|CACNA1C_ENST00000399644.1_Silent_p.S1552S|CACNA1C_ENST00000399655.1_Silent_p.S1552S|CACNA1C_ENST00000399641.1_Silent_p.S1552S|CACNA1C_ENST00000399606.1_Silent_p.S1572S|CACNA1C_ENST00000406454.3_Silent_p.S1552S|CACNA1C_ENST00000399601.1_Silent_p.S1552S|CACNA1C_ENST00000402845.3_Silent_p.S1552S|CACNA1C_ENST00000335762.5_Silent_p.S1577S|CACNA1C_ENST00000399617.1_Silent_p.S1552S|CACNA1C_ENST00000399597.1_Silent_p.S1552S|CACNA1C_ENST00000399637.1_Silent_p.S1552S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1600					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCTGAACAGCGACGGGACAG	0.592																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4654-4656)agC>agT		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	0,4388		0,0,2194	125.0	127.0	126.0		4656,4800,4722,4656,4740,4716,4656,4656,4656,4707,4623,4623,4617,4656,4656,4656,4656,4647,4623,4656,4656,4623,4800	-3.4	1.0	12		126	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,,,,,,,,	1552/2139,1600/2187,1574/2180,1552/2174,1580/2167,1572/2159,1552/2158,1552/2158,1552/2158,1569/2156,1541/2147,1541/2147,1539/2145,1552/2139,1552/2139,1552/2139,1552/2139,1549/2136,1541/2128,1552/2139,1552/2174,1541/2199,1600/2222	2778131	1,12985	2194	4299	6493	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2778131C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4800C>T	12.37:g.2778131C>T						CACNA1C_ENST00000347598.4_Silent_p.S1600S|CACNA1C_ENST00000399617.1_Silent_p.S1552S|CACNA1C_ENST00000399638.1_Silent_p.S1580S|CACNA1C_ENST00000399644.1_Silent_p.S1552S|CACNA1C_ENST00000406454.3_Silent_p.S1552S|CACNA1C_ENST00000399606.1_Silent_p.S1572S|CACNA1C_ENST00000402845.3_Silent_p.S1552S|CACNA1C_ENST00000399597.1_Silent_p.S1552S|CACNA1C_ENST00000399637.1_Silent_p.S1552S|CACNA1C_ENST00000399595.1_Silent_p.S1541S|CACNA1C_ENST00000335762.5_Silent_p.S1577S|CACNA1C_ENST00000399603.1_Silent_p.S1552S|CACNA1C_ENST00000399649.1_Silent_p.S1539S|CACNA1C_ENST00000399591.1_Silent_p.S1541S|CACNA1C_ENST00000327702.7_Silent_p.S1552S|CACNA1C_ENST00000344100.3_Silent_p.S1574S|CACNA1C_ENST00000399621.1_Silent_p.S1552S|CACNA1C_ENST00000399629.1_Silent_p.S1569S|CACNA1C_ENST00000399634.1_Silent_p.S1552S|CACNA1C_ENST00000399601.1_Silent_p.S1552S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.S1552S	p.S1552S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	38	4921	+			1600					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4656C>T	CCDS44788.1																																																																																				0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	119	0	0	0	1	0	8	119				
CDK20	23552	broad.mit.edu	37	9	90584223	90584223	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr9:90584223C>G	ENST00000325303.8	-	7	1034	c.729G>C	c.(727-729)aaG>aaC	p.K243N	CDK20_ENST00000375871.4_Missense_Mutation_p.R181T|CDK20_ENST00000375883.3_Missense_Mutation_p.K222N|CDK20_ENST00000336654.5_Missense_Mutation_p.K235N|CDK20_ENST00000605159.1_Missense_Mutation_p.K222N	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						GCACCTGCTCCTTAAAGGAGA	0.582																																						ENST00000375883.3																			0				skin(1)	1						c.(664-666)aaG>aaC		cyclin-dependent kinase 20							135.0	125.0	128.0					9																	90584223		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90584223C>G	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.729G>C	9.37:g.90584223C>G	ENSP00000322343:p.Lys243Asn					CDK20_ENST00000605159.1_Missense_Mutation_p.K222N|CDK20_ENST00000325303.8_Missense_Mutation_p.K243N|CDK20_ENST00000375871.4_Missense_Mutation_p.R181T|CDK20_ENST00000336654.5_Missense_Mutation_p.K235N	p.K222N	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN			6	972	-			243			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.666G>C	CCDS35060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.163|8.163	0.789894|0.789894	0.16258|0.16258	.|.	.|.	ENSG00000156345|ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878|ENST00000375871	T;T;T|T	0.43294|0.63417	0.95;0.95;0.95|-0.04	4.64|4.64	4.64|4.64	0.57946|0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.105696|.	0.64402|.	D|.	0.000007|.	T|T	0.53449|0.53449	0.1797|0.1797	.|.	.|.	.|.	0.25619|0.25619	N|N	0.98641|0.98641	B;B;B|P	0.29341|0.36535	0.018;0.242;0.003|0.557	B;B;B|B	0.33568|0.33042	0.033;0.166;0.027|0.157	T|T	0.54977|0.54977	-0.8212|-0.8212	9|8	0.87932|0.87932	D|D	0|0	-21.3057|-21.3057	13.3945|13.3945	0.60843|0.60843	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	235;222;243|181	A2A390;E7EQ88;Q8IZL9|Q8IZL9-2	.;.;CDK20_HUMAN|.	N|T	222;235;243;222|181	ENSP00000365043:K222N;ENSP00000338975:K235N;ENSP00000322343:K243N|ENSP00000365031:R181T	ENSP00000286878:K222N|ENSP00000365031:R181T	K|R	-|-	3|2	2|0	CDK20|CDK20	89774043|89774043	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.460000|0.460000	0.32559|0.32559	0.592000|0.592000	0.23984|0.23984	2.296000|2.296000	0.77279|0.77279	0.655000|0.655000	0.94253|0.94253	AAG|AGG		0.582	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		36	155	0	0	0	1	0	36	155				
SRGAP3	9901	broad.mit.edu	37	3	9102000	9102000	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:9102000G>A	ENST00000383836.3	-	6	1143	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A239V|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	239	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTCATTCCGGGCCTTTGTGCA	0.483			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(715-717)gCc>gTc		SLIT-ROBO Rho GTPase activating protein 3							217.0	190.0	200.0					3																	9102000		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9102000G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.716C>T	3.37:g.9102000G>A	ENSP00000373347:p.Ala239Val					SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.A239V	p.A239V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	6	1143	-			239					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.716C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201337	0.94997	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	T;T	0.19394	2.15;2.15	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	M	0.89904	3.07	0.80722	D	1	D;B;P;P	0.69078	0.997;0.03;0.75;0.634	D;B;B;B	0.75020	0.985;0.055;0.316;0.168	T	0.66118	-0.6003	10	0.87932	D	0	.	18.477	0.90797	0.0:0.0:1.0:0.0	.	239;108;239;239	C7TPG7;Q9ULR4;O43295-2;O43295	.;.;.;SRGP2_HUMAN	V	239;239;119	ENSP00000373347:A239V;ENSP00000353587:A239V	ENSP00000353587:A239V	A	-	2	0	SRGAP3	9077000	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.579000	0.98204	2.462000	0.83206	0.460000	0.39030	GCC		0.483	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			12	67	0	0	0	1	0	12	67				
TTN	7273	broad.mit.edu	37	2	179469534	179469534	+	Silent	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:179469534G>T	ENST00000591111.1	-	231	49583	c.49359C>A	c.(49357-49359)ggC>ggA	p.G16453G	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.G9029G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.G18094G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G9154G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G15526G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.G9221G			Q8WZ42	TITIN_HUMAN	titin	16453	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCACTGCCACCATTAT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54280-54282)ggC>ggA		titin							134.0	124.0	127.0					2																	179469534		1914	4137	6051	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469534G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49359C>A	2.37:g.179469534G>T						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G16453G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.G9029G|TTN_ENST00000342992.6_Silent_p.G15526G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.G9221G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.G9154G|TTN-AS1_ENST00000456053.1_RNA	p.G18094G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		281	54506	-			16453		E -> A.	Fibronectin type-III 31.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.54282C>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	105	1	0	9.16793e-09	1	1.0711e-08	17	105				
BAIAP3	8938	broad.mit.edu	37	16	1388940	1388940	+	Missense_Mutation	SNP	C	C	T	rs139609870		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:1388940C>T	ENST00000324385.5	+	3	432	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	BAIAP3_ENST00000397489.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R57C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R57C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	92					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCCACATGCGCCTCATGCT	0.657																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(274-276)Cgc>Tgc		BAI1-associated protein 3		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	93.0	98.0	96.0		169,169,169,169,274	3.1	1.0	16	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	180,180,180,180,180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/1117,57/1153,57/1130,57/1125,92/1188	1388940	1,12997	2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1388940C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.274C>T	16.37:g.1388940C>T	ENSP00000324510:p.Arg92Cys					BAIAP3_ENST00000421665.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R57C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R57C	p.R92C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			3	432	+		Hepatocellular(780;0.0893)	92					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.274C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082234	0.55861	0.0	1.16E-4	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.72167	-0.62;-0.63;-0.63;-0.63;-0.63	4.11	3.07	0.35406	.	0.366349	0.24700	N	0.036302	T	0.76083	0.3938	L	0.54323	1.7	0.42916	D	0.994271	D;D;D;D;D	0.89917	1.0;1.0;0.997;0.999;1.0	P;D;P;P;P	0.66847	0.732;0.947;0.642;0.759;0.828	T	0.76206	-0.3044	10	0.54805	T	0.06	-31.1797	8.0978	0.30840	0.261:0.739:0.0:0.0	.	57;92;57;92;57	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	C	57;57;92;57;57	ENSP00000407242:R57C;ENSP00000380625:R57C;ENSP00000324510:R92C;ENSP00000380626:R57C;ENSP00000409533:R57C	ENSP00000324510:R92C	R	+	1	0	BAIAP3	1328941	0.996000	0.38824	0.999000	0.59377	0.883000	0.51084	1.630000	0.37081	2.109000	0.64355	0.484000	0.47621	CGC		0.657	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			17	123	0	0	0	1	0	17	123				
GPR139	124274	broad.mit.edu	37	16	20043132	20043132	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:20043132C>T	ENST00000570682.1	-	2	1287	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	329					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGAGTTTGCCGGCGAGATCC	0.473																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(985-987)ccG>ccA		G protein-coupled receptor 139							165.0	159.0	161.0					16																	20043132		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043132C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.987G>A	16.37:g.20043132C>T							p.P329P	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1287	-			329					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.987G>A	CCDS32398.1																																																																																				0.473	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		8	162	0	0	0	1	0	8	162				
MYLK	4638	broad.mit.edu	37	3	123456283	123456283	+	Silent	SNP	C	C	T	rs41271441		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:123456283C>T	ENST00000475616.1	-	5	695	c.696G>A	c.(694-696)acG>acA	p.T232T	MYLK_ENST00000360304.3_Silent_p.T232T|MYLK_ENST00000360772.3_Silent_p.T232T|MYLK_ENST00000359169.1_Silent_p.T232T|MYLK_ENST00000346322.5_Silent_p.T232T			Q15746	MYLK_HUMAN	myosin light chain kinase	232	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCACCAGGCACGTGTACACTC	0.567																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(694-696)acG>acA		myosin light chain kinase							263.0	190.0	215.0					3																	123456283		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123456283C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.696G>A	3.37:g.123456283C>T						MYLK_ENST00000346322.5_Silent_p.T232T|MYLK_ENST00000475616.1_Silent_p.T232T|MYLK_ENST00000360304.3_Silent_p.T232T|MYLK_ENST00000359169.1_Silent_p.T232T	p.T232T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	9	1074	-		Lung NSC(201;0.0496)	232			Ig-like C2-type 2.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.696G>A	CCDS46896.1																																																																																				0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		28	156	0	0	0	1	0	28	156				
SORCS3	22986	broad.mit.edu	37	10	107022210	107022210	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr10:107022210G>A	ENST00000369701.3	+	26	3792	c.3565G>A	c.(3565-3567)Gag>Aag	p.E1189K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1189					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACGGAGCCTGAGGAGCTGCT	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3565-3567)Gag>Aag		sortilin-related VPS10 domain containing receptor 3							73.0	58.0	63.0					10																	107022210		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022210G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3565G>A	10.37:g.107022210G>A	ENSP00000358715:p.Glu1189Lys						p.E1189K	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3792	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1189					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3565G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620888	0.46736	.	.	ENSG00000156395	ENST00000369701	T	0.15017	2.46	5.84	5.84	0.93424	.	0.054356	0.64402	D	0.000001	T	0.08358	0.0208	N	0.01705	-0.755	0.46954	D	0.999269	B	0.11235	0.004	B	0.12156	0.007	T	0.38134	-0.9675	9	.	.	.	.	20.1579	0.98126	0.0:0.0:1.0:0.0	.	1189	Q9UPU3	SORC3_HUMAN	K	1189	ENSP00000358715:E1189K	.	E	+	1	0	SORCS3	107012200	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	6.135000	0.71696	2.767000	0.95098	0.555000	0.69702	GAG		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	58	0	0	0	1	0	4	58				
KCNK7	10089	broad.mit.edu	37	11	65360664	65360664	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr11:65360664G>A	ENST00000340313.4	-	3	959	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	246					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						ATGGCCAAGAGTCCTAGAAGC	0.627																																						ENST00000340313.4																			0				endometrium(1)|liver(1)|lung(1)	3						c.(736-738)Ctc>Ttc		potassium channel, subfamily K, member 7							50.0	53.0	52.0					11																	65360664		2198	4297	6495	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360664G>A	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.736C>T	11.37:g.65360664G>A	ENSP00000344820:p.Leu246Phe					KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	p.L246F	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN			3	959	-			246					Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.736C>T	CCDS31608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.86|17.86	3.491853|3.491853	0.64074|0.64074	.|.	.|.	ENSG00000173338|ENSG00000173338	ENST00000340313|ENST00000530380	T|.	0.22743|.	1.94|.	5.4|5.4	4.47|4.47	0.54385|0.54385	Ion transport 2 (1);|.	0.160237|.	0.30177|.	N|.	0.010237|.	T|T	0.81221|0.81221	0.4777|0.4777	M|M	0.93375|0.93375	3.41|3.41	0.49051|0.49051	D|D	0.999747|0.999747	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	D|D	0.84916|0.84916	0.0851|0.0851	10|5	0.87932|.	D|.	0|.	.|.	10.5478|10.5478	0.45070|0.45070	0.0925:0.0:0.9075:0.0|0.0925:0.0:0.9075:0.0	.|.	246|.	Q9Y2U2|.	KCNK7_HUMAN|.	F|I	246|10	ENSP00000344820:L246F|.	ENSP00000344820:L246F|.	L|T	-|-	1|2	0|0	KCNK7|KCNK7	65117240|65117240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.370000|0.370000	0.29829|0.29829	4.560000|4.560000	0.60802|0.60802	2.537000|2.537000	0.85549|0.85549	0.555000|0.555000	0.69702|0.69702	CTC|ACT		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		17	27	0	0	0	1	0	17	27				
ZNF16	7564	broad.mit.edu	37	8	146157911	146157911	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr8:146157911A>G	ENST00000276816.4	-	4	448	c.262T>C	c.(262-264)Tca>Cca	p.S88P	ZNF16_ENST00000394909.2_Missense_Mutation_p.S88P	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	88	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTGTGATTCCAAATCT	0.428																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(262-264)Tca>Cca		zinc finger protein 16							106.0	100.0	102.0					8																	146157911		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157911A>G	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.262T>C	8.37:g.146157911A>G	ENSP00000276816:p.Ser88Pro					ZNF16_ENST00000394909.2_Missense_Mutation_p.S88P	p.S88P	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	448	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	88					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.262T>C	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307988	0.23821	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.61859	2.81;2.81;4.52;0.07	4.24	3.08	0.35506	.	.	.	.	.	T	0.43942	0.1270	N	0.08118	0	0.23341	N	0.997878	D	0.58970	0.984	P	0.52267	0.694	T	0.18745	-1.0327	9	0.33940	T	0.23	.	7.7613	0.28955	0.8984:0.0:0.1016:0.0	.	88	P17020	ZNF16_HUMAN	P	88	ENSP00000276816:S88P;ENSP00000378369:S88P;ENSP00000434321:S88P;ENSP00000432755:S88P	ENSP00000276816:S88P	S	-	1	0	ZNF16	146128715	0.575000	0.26692	0.357000	0.25798	0.497000	0.33675	0.313000	0.19415	0.675000	0.31264	0.460000	0.39030	TCA		0.428	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		31	154	0	0	0	1	0	31	154				
C12orf56	115749	broad.mit.edu	37	12	64664467	64664467	+	Missense_Mutation	SNP	G	G	C	rs556576427		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:64664467G>C	ENST00000543942.2	-	12	2238	c.1612C>G	c.(1612-1614)Caa>Gaa	p.Q538E	C12orf56_ENST00000333722.5_Missense_Mutation_p.Q378E|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000536975.1_5'UTR	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	538										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTCACCACTTGTTTCACAATA	0.453																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(1612-1614)Caa>Gaa		chromosome 12 open reading frame 56							78.0	73.0	74.0					12																	64664467		1891	4129	6020	SO:0001583	missense	115749							g.chr12:64664467G>C		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1612C>G	12.37:g.64664467G>C	ENSP00000446101:p.Gln538Glu					C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.Q378E	p.Q538E	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	12	2238	-			541						Missense_Mutation	SNP	ENST00000543942.2	37	c.1612C>G		.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207652	0.06180	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	5.19	4.28	0.50868	.	0.212573	0.39759	N	0.001273	T	0.38188	0.1031	L	0.39397	1.21	0.25158	N	0.990377	B;B	0.25809	0.135;0.002	B;B	0.28305	0.088;0.004	T	0.22277	-1.0221	8	.	.	.	0.2107	11.5877	0.50929	0.0:0.1877:0.8123:0.0	.	378;541	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	E	378;539;541	.	.	Q	-	1	0	C12orf56	62950734	0.682000	0.27624	0.533000	0.28001	0.004000	0.04260	1.046000	0.30354	1.527000	0.49086	0.563000	0.77884	CAA		0.453	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		17	50	0	0	0	1	0	17	50				
SIRPB1	10326	broad.mit.edu	37	20	1559260	1559260	+	Missense_Mutation	SNP	G	G	A	rs143134459		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:1559260G>A	ENST00000381605.4	-	2	221	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R52C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R53C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R53C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	53	Ig-like V-type.		R -> H (in dbSNP:rs2746603).		cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGCACAGCGCAGAGTGGCC	0.542																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(157-159)Cgc>Tgc		signal-regulatory protein beta 1		G	CYS/ARG,CYS/ARG	0,4392		0,0,2196	106.0	97.0	100.0		157,157	-1.7	0.0	20	dbSNP_134	100	2,8460		0,2,4229	no	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	180,180	0,2,6425	AA,AG,GG		0.0236,0.0,0.0156	probably-damaging,probably-damaging	53/182,53/399	1559260	2,12852	2196	4231	6427	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559260G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.157C>T	20.37:g.1559260G>A	ENSP00000371018:p.Arg53Cys					SIRPB1_ENST00000262929.5_Missense_Mutation_p.R52C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R53C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R53C	p.R53C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	221	-			53		R -> H (in dbSNP:rs2746603).	Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.157C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.720144	0.30503	0.0	2.36E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.66815	-0.23;-0.23;-0.23	2.36	-1.71	0.08133	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.873450	0.02321	N	0.072964	T	0.76695	0.4023	M	0.79926	2.475	0.09310	N	1	P;P	0.51057	0.941;0.878	P;P	0.52627	0.704;0.698	T	0.65038	-0.6265	10	0.72032	D	0.01	.	8.7826	0.34800	0.0:0.0:0.4612:0.5388	.	53;53	O00241;O00241-2	SIRB1_HUMAN;.	C	53;53;52	ENSP00000371018:R53C;ENSP00000371016:R53C;ENSP00000262929:R52C	ENSP00000262929:R52C	R	-	1	0	SIRPB1	1507260	0.010000	0.17322	0.025000	0.17156	0.002000	0.02628	-0.284000	0.08422	-0.461000	0.06993	-2.048000	0.00412	CGC		0.542	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		35	129	0	0	0	1	0	35	129				
DSEL	92126	broad.mit.edu	37	18	65180278	65180278	+	Missense_Mutation	SNP	G	G	A	rs373569592		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr18:65180278G>A	ENST00000310045.7	-	2	3071	c.1598C>T	c.(1597-1599)gCg>gTg	p.A533V	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	523					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAGCCACTGCGCACATTCTCC	0.507																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1597-1599)gCg>gTg		dermatan sulfate epimerase-like		G	VAL/ALA	0,4406		0,0,2203	88.0	77.0	81.0		1598	3.8	1.0	18		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	DSEL	NM_032160.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	533/1223	65180278	1,13005	2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180278G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1598C>T	18.37:g.65180278G>A	ENSP00000310565:p.Ala533Val					CTD-2541J13.2_ENST00000583493.1_RNA	p.A533V	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	3071	-		Esophageal squamous(42;0.129)	523					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1598C>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675084	0.47781	0.0	1.16E-4	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19250	2.16	5.67	3.81	0.43845	.	0.228496	0.35320	U	0.003297	T	0.20981	0.0505	L	0.47716	1.5	0.31181	N	0.702094	B	0.26363	0.147	B	0.18871	0.023	T	0.16012	-1.0417	10	0.59425	D	0.04	-12.6046	16.0393	0.80651	0.0:0.253:0.747:0.0	.	523	Q8IZU8	DSEL_HUMAN	V	533;523	ENSP00000310565:A533V	ENSP00000310565:A533V	A	-	2	0	DSEL	63331258	0.952000	0.32445	0.997000	0.53966	0.991000	0.79684	3.960000	0.56752	1.393000	0.46605	0.563000	0.77884	GCG		0.507	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		16	76	0	0	0	1	0	16	76				
ALDH8A1	64577	broad.mit.edu	37	6	135263564	135263564	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:135263564C>T	ENST00000265605.2	-	3	493	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R142Q|RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R142Q	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	142					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CACCGGGGCCCGCACCGTGTA	0.582																																						ENST00000265605.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36						c.(424-426)cGg>cAg		aldehyde dehydrogenase 8 family, member A1							78.0	73.0	75.0					6																	135263564		2203	4300	6503	SO:0001583	missense	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135263564C>T	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.425G>A	6.37:g.135263564C>T	ENSP00000265605:p.Arg142Gln					ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R142Q|RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R142Q	p.R142Q	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	3	493	-	Colorectal(23;0.221)		142					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.425G>A	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839757	0.71488	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.79749	-1.3;-1.3;1.34	5.32	4.46	0.54185	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.82972	0.5153	M	0.71296	2.17	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.60789	0.879;0.733;0.826	D	0.83659	0.0160	10	0.44086	T	0.13	.	13.925	0.63958	0.0:0.9266:0.0:0.0734	.	142;142;142	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	Q	142	ENSP00000265605:R142Q;ENSP00000356819:R142Q;ENSP00000356821:R142Q	ENSP00000265605:R142Q	R	-	2	0	ALDH8A1	135305257	1.000000	0.71417	0.017000	0.16124	0.020000	0.10135	7.771000	0.85420	1.237000	0.43756	-0.136000	0.14681	CGG		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			5	84	0	0	0	1	0	5	84				
AMDHD2	51005	broad.mit.edu	37	16	2579489	2579489	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:2579489C>T	ENST00000293971.6	+	11	1249	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	AMDHD2_ENST00000302956.4_Silent_p.L415L|MIR3178_ENST00000581887.1_RNA|AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.L415L	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657																																						ENST00000302956.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						c.(1243-1245)ctC>ctT		amidohydrolase domain containing 2							129.0	103.0	112.0					16																	2579489		2198	4300	6498	SO:0001819	synonymous_variant	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2579489C>T	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.1155C>T	16.37:g.2579489C>T						AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000413459.3_Silent_p.L415L	p.L415L			Q9Y303	NAGA_HUMAN			10	1339	+			385					B4DL77|Q8WV54	Silent	SNP	ENST00000293971.6	37	c.1245C>T																																																																																					0.657	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		29	115	0	0	0	1	0	29	115				
COL4A1	1282	broad.mit.edu	37	13	110813613	110813613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:110813613C>T	ENST00000375820.4	-	49	4687	c.4566G>A	c.(4564-4566)tgG>tgA	p.W1522*	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1522	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGTGGACAGCCAGTACGAGT	0.507																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4564-4566)tgG>tgA		collagen, type IV, alpha 1							141.0	117.0	125.0					13																	110813613		2203	4300	6503	SO:0001587	stop_gained	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110813613C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4566G>A	13.37:g.110813613C>T	ENSP00000364979:p.Trp1522*					COL4A1_ENST00000467182.1_5'UTR	p.W1522*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		49	4687	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1522			Collagen IV NC1.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	ENST00000375820.4	37	c.4566G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	41	9.113189	0.99069	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6987	0.88289	0.0:1.0:0.0:0.0	.	.	.	.	X	1165;1522;1171	.	ENSP00000364973:W1165X	W	-	3	0	COL4A1	109611614	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	7.512000	0.81728	2.227000	0.72691	0.462000	0.41574	TGG		0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			6	58	0	0	0	1	0	6	58				
OR9A4	130075	broad.mit.edu	37	7	141618705	141618705	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:141618705A>T	ENST00000548136.1	+	1	89	c.30A>T	c.(28-30)gaA>gaT	p.E10D	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	10						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(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTGCCACTGAATTTTATCTCC	0.373																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(28-30)gaA>gaT		olfactory receptor, family 9, subfamily A, member 4							219.0	221.0	220.0					7																	141618705		2071	4218	6289	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618705A>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.30A>T	7.37:g.141618705A>T	ENSP00000448789:p.Glu10Asp					MGAM_ENST00000497554.1_Intron	p.E10D	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	89	+	Melanoma(164;0.0171)		10					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.30A>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	8.265	0.812133	0.16537	.	.	ENSG00000258083	ENST00000548136	T	0.00566	6.55	3.88	3.88	0.44766	.	.	.	.	.	T	0.00637	0.0021	L	0.55103	1.725	0.27767	N	0.943605	B	0.17852	0.024	B	0.23852	0.049	T	0.34700	-0.9818	9	0.42905	T	0.14	-9.7086	6.7235	0.23342	0.79:0.0:0.0:0.21	.	10	Q8NGU2	OR9A4_HUMAN	D	10	ENSP00000448789:E10D	ENSP00000386148:E10D	E	+	3	2	OR9A4	141265174	0.066000	0.20996	0.969000	0.41365	0.085000	0.17905	-0.135000	0.10420	1.754000	0.51921	0.523000	0.50628	GAA		0.373	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		48	218	0	0	0	1	0	48	218				
MAP3K9	4293	broad.mit.edu	37	14	71267534	71267534	+	Missense_Mutation	SNP	G	G	A	rs148675299		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:71267534G>A	ENST00000554752.2	-	2	669	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	MAP3K9_ENST00000555993.2_Missense_Mutation_p.R224C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R224C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGTCCTCCACGAGCAAACTCC	0.512																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(670-672)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 9		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	88.0	92.0		670	5.9	1.0	14	dbSNP_134	92	0,8600		0,0,4300	no	missense	MAP3K9	NM_033141.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	224/1119	71267534	1,13005	2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71267534G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.670C>T	14.37:g.71267534G>A	ENSP00000451612:p.Arg224Cys					MAP3K9_ENST00000381250.4_Missense_Mutation_p.R224C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R224C	p.R224C			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	2	669	-			224			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.670C>T		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996605	0.93167	2.27E-4	0.0	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000381250	D;D	0.89343	-2.5;-2.5	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91818	0.7411	L	0.31664	0.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.983	D	0.92254	0.5811	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	224;224	P80192;P80192-4	M3K9_HUMAN;.	C	224	ENSP00000451612:R224C;ENSP00000370649:R224C	ENSP00000005198:R224C	R	-	1	0	MAP3K9	70337287	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.703000	0.98714	2.814000	0.96858	0.655000	0.94253	CGT		0.512	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			25	102	0	0	0	1	0	25	102				
C3	718	broad.mit.edu	37	19	6677918	6677918	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:6677918A>G	ENST00000245907.6	-	41	5059	c.4967T>C	c.(4966-4968)aTg>aCg	p.M1656T	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1656	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AAAGACAACCATGCTCTCGGT	0.557																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4966-4968)aTg>aCg		complement component 3							111.0	89.0	97.0					19																	6677918		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6677918A>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4967T>C	19.37:g.6677918A>G	ENSP00000245907:p.Met1656Thr					C3_ENST00000599668.1_5'UTR	p.M1656T	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	41	5059	-			1656			NTR.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4967T>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686597	0.29962	.	.	ENSG00000125730	ENST00000245907	T	0.58210	0.35	5.08	5.08	0.68730	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.461420	0.24532	N	0.037709	T	0.70185	0.3195	M	0.78637	2.42	0.09310	N	0.999999	D;B	0.54047	0.964;0.421	D;B	0.63488	0.915;0.107	T	0.64740	-0.6336	10	0.59425	D	0.04	.	12.8262	0.57721	1.0:0.0:0.0:0.0	.	1656;1091	P01024;B4E216	CO3_HUMAN;.	T	1656	ENSP00000245907:M1656T	ENSP00000245907:M1656T	M	-	2	0	C3	6628918	1.000000	0.71417	0.196000	0.23383	0.012000	0.07955	5.866000	0.69590	1.922000	0.55676	0.373000	0.22412	ATG		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		23	54	0	0	0	1	0	23	54				
CXXC1	30827	broad.mit.edu	37	18	47813190	47813190	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr18:47813190C>T	ENST00000285106.6	-	2	756	c.42G>A	c.(40-42)ggG>ggA	p.G14G	CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000589940.1_Silent_p.G14G|CXXC1_ENST00000412036.2_Silent_p.G14G	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	14					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCTGTCCTCCCCGGCATCTG	0.607																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(40-42)ggG>ggA		CXXC finger protein 1							106.0	93.0	97.0					18																	47813190		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47813190C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.42G>A	18.37:g.47813190C>T						CXXC1_ENST00000589940.1_Silent_p.G14G|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000412036.2_Silent_p.G14G	p.G14G	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			2	756	-			14					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.42G>A	CCDS11945.1																																																																																				0.607	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		6	102	0	0	0	1	0	6	102				
KLHDC7A	127707	broad.mit.edu	37	1	18809387	18809387	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:18809387G>A	ENST00000400664.1	+	1	1964	c.1912G>A	c.(1912-1914)Gtc>Atc	p.V638I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	638						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAATCTTCGTCACCGGCGG	0.711																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1912-1914)Gtc>Atc		kelch domain containing 7A							18.0	21.0	20.0					1																	18809387		2200	4296	6496	SO:0001583	missense	127707					integral to membrane		g.chr1:18809387G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1912G>A	1.37:g.18809387G>A	ENSP00000383505:p.Val638Ile						p.V638I	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1964	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	638					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1912G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785150	0.70222	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.70399	-0.48	4.68	3.76	0.43208	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000002	T	0.81550	0.4846	M	0.80982	2.52	0.42283	D	0.992103	D;D	0.76494	0.999;0.999	D;D	0.64776	0.929;0.929	T	0.81695	-0.0816	10	0.45353	T	0.12	.	11.1624	0.48522	0.0909:0.0:0.9091:0.0	.	575;638	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	I	638;575	ENSP00000383505:V638I	ENSP00000383505:V638I	V	+	1	0	KLHDC7A	18681974	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	6.722000	0.74735	0.943000	0.37553	0.561000	0.74099	GTC		0.711	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		5	28	0	0	0	1	0	5	28				
PCDHA13	56136	broad.mit.edu	37	5	140262142	140262142	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:140262142G>A	ENST00000289272.2	+	1	289	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G97R|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGTGGGCGGAGCGC	0.567																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(289-291)Ggg>Agg									128.0	139.0	135.0					5																	140262142		2203	4297	6500	SO:0001583	missense	56136							g.chr5:140262142G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.289G>A	5.37:g.140262142G>A	ENSP00000289272:p.Gly97Arg					PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G97R	p.G97R	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.289G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347452	0.41599	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.30981	1.51;1.51	5.58	4.72	0.59763	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.46756	0.1409	M	0.70595	2.14	0.26961	N	0.965815	P;P;P	0.50819	0.81;0.912;0.939	B;P;P	0.53722	0.341;0.733;0.457	T	0.39292	-0.9621	9	0.51188	T	0.08	.	12.6591	0.56803	0.0776:0.0:0.9224:0.0	.	97;97;97	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	R	97	ENSP00000386821:G97R;ENSP00000289272:G97R	ENSP00000289272:G97R	G	+	1	0	PCDHA13	140242326	0.997000	0.39634	1.000000	0.80357	0.648000	0.38561	5.328000	0.65887	1.358000	0.45922	-0.254000	0.11334	GGG		0.567	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		61	230	0	0	0	1	0	61	230				
HDAC5	10014	broad.mit.edu	37	17	42158136	42158136	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:42158136C>T	ENST00000393622.2	-	21	3053	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	HDAC5_ENST00000336057.5_Missense_Mutation_p.E823K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E908K|HDAC5_ENST00000225983.6_Missense_Mutation_p.E909K	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	908	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGTACCTCTTCAGGAGCCCCA	0.602																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2725-2727)Gaa>Aaa		histone deacetylase 5							86.0	82.0	83.0					17																	42158136		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42158136C>T	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2722G>A	17.37:g.42158136C>T	ENSP00000377244:p.Glu908Lys					HDAC5_ENST00000393622.2_Missense_Mutation_p.E908K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E823K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E908K	p.E909K			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	21	3048	-		Breast(137;0.00637)|Prostate(33;0.0313)	908			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2725G>A	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899425	0.91962	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69175	-0.38;-0.38;-0.38	4.63	4.63	0.57726	Histone deacetylase domain (2);	0.066116	0.64402	D	0.000016	T	0.72843	0.3511	L	0.46157	1.445	0.53688	D	0.999974	D;P;B	0.64830	0.994;0.864;0.401	P;P;P	0.60609	0.877;0.583;0.707	T	0.75167	-0.3413	10	0.66056	D	0.02	-9.9404	12.8424	0.57811	0.0:1.0:0.0:0.0	.	823;909;908	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	K	909;908;823	ENSP00000225983:E909K;ENSP00000377244:E908K;ENSP00000337290:E823K	ENSP00000225983:E909K	E	-	1	0	HDAC5	39513662	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.609000	0.82925	2.411000	0.81874	0.563000	0.77884	GAA		0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		15	107	0	0	0	1	0	15	107				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			644669							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			4	17	0	0	0	1	0	4	17				
ZNF778	197320	broad.mit.edu	37	16	89294664	89294664	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:89294664C>T	ENST00000433976.2	+	6	2216	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	ZNF778_ENST00000306502.6_Silent_p.S586S|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTTTGCTTCCTCCTCACACC	0.493																																						ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1882-1884)tcC>tcT		zinc finger protein 778							65.0	68.0	67.0					16																	89294664		2181	4291	6472	SO:0001819	synonymous_variant	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294664C>T	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1884C>T	16.37:g.89294664C>T						RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.S586S	p.S628S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2216	+			628					Q08AG0	Silent	SNP	ENST00000433976.2	37	c.1884C>T	CCDS45550.1																																																																																				0.493	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		7	83	0	0	0	1	0	7	83				
WBSCR27	155368	broad.mit.edu	37	7	73256457	73256457	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:73256457T>C	ENST00000297873.4	-	2	63	c.14A>G	c.(13-15)gAg>gGg	p.E5G		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	5										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GCTCCCACCCTCCTCCTGGGC	0.677																																						ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(13-15)gAg>gGg		Williams Beuren syndrome chromosome region 27							38.0	38.0	38.0					7																	73256457		2203	4298	6501	SO:0001583	missense	155368							g.chr7:73256457T>C	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.14A>G	7.37:g.73256457T>C	ENSP00000297873:p.Glu5Gly						p.E5G	NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			2	63	-		Lung NSC(55;0.159)	5						Missense_Mutation	SNP	ENST00000297873.4	37	c.14A>G	CCDS5561.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531651	0.45073	.	.	ENSG00000165171	ENST00000297873	T	0.38560	1.13	4.17	3.01	0.34805	.	1.099900	0.06922	N	0.809626	T	0.56688	0.2002	L	0.54323	1.7	0.25802	N	0.984493	D;P	0.76494	0.999;0.915	D;B	0.78314	0.991;0.23	T	0.33317	-0.9873	10	0.33940	T	0.23	-16.7283	6.6279	0.22841	0.0:0.1147:0.0:0.8853	.	5;5	B4DWM3;Q8N6F8	.;WBS27_HUMAN	G	5	ENSP00000297873:E5G	ENSP00000297873:E5G	E	-	2	0	WBSCR27	72894393	0.585000	0.26774	0.788000	0.31933	0.463000	0.32649	2.007000	0.40883	0.741000	0.32674	0.459000	0.35465	GAG		0.677	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		6	51	0	0	0	1	0	6	51				
FBXW7	55294	broad.mit.edu	37	4	153247175	153247175	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:153247175T>C	ENST00000281708.4	-	10	2856	c.1627A>G	c.(1627-1629)Aga>Gga	p.R543G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAATAGACTCTATTAGTATGC	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		5	Substitution - Missense(4)|Unknown(1)	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)	upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1627-1629)Aga>Gga		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							158.0	155.0	156.0					4																	153247175		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247175T>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1627A>G	4.37:g.153247175T>C	ENSP00000281708:p.Arg543Gly					FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G	p.R543G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2856	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	543					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1627A>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637518	0.67130	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.72	3.29	0.37713	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	N	0.11154	0.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.984;0.988;0.98;0.98	T	0.32981	-0.9886	10	0.37606	T	0.19	-22.4267	12.7167	0.57119	0.0:0.0:0.2901:0.7099	.	367;543;425;463	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	543;425;463;367	ENSP00000281708:R543G;ENSP00000296555:R425G;ENSP00000263981:R463G;ENSP00000377528:R367G	ENSP00000263981:R463G	R	-	1	2	FBXW7	153466625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	0.517000	0.28361	0.528000	0.53228	AGA		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			64	103	0	0	0	1	0	64	103				
FGF7	2252	broad.mit.edu	37	15	49776611	49776611	+	Silent	SNP	T	T	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr15:49776611T>G	ENST00000267843.4	+	4	1106	c.495T>G	c.(493-495)gtT>gtG	p.V165V	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	165					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.V165V(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AAATGTTTGTTGCCTTAAATC	0.358																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.V165V(1)	lung(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(493-495)gtT>gtG		fibroblast growth factor 7	Palifermin(DB00039)						38.0	37.0	38.0					15																	49776611		2027	3862	5889	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776611T>G	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.495T>G	15.37:g.49776611T>G						FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	p.V165V	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1106	+		all_lung(180;0.00391)	165					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.495T>G	CCDS10131.1																																																																																				0.358	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		6	64	0	0	0	1	0	6	64				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	24	0	0	0	1	0	3	24				
PRMT1	3276	broad.mit.edu	37	19	50188182	50188182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr19:50188182G>A	ENST00000391851.4	+	7	722	c.593G>A	c.(592-594)tGg>tAg	p.W198*	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Nonsense_Mutation_p.W170*|PRMT1_ENST00000454376.2_Nonsense_Mutation_p.W216*	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	206	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TCCCCAGGGTGGGAGAACGTG	0.642											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(508-510)tGg>tAg		protein arginine methyltransferase 1							70.0	68.0	68.0					19																	50188182		2203	4300	6503	SO:0001587	stop_gained	3276					cytoplasm	protein methyltransferase activity	g.chr19:50188182G>A	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.593G>A	19.37:g.50188182G>A	ENSP00000375724:p.Trp198*		OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	967	PRMT1_ENST00000391851.4_Nonsense_Mutation_p.W198*|PRMT1_ENST00000454376.2_Nonsense_Mutation_p.W216*	p.W170*			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	8	1015	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	197					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Nonsense_Mutation	SNP	ENST00000391851.4	37	c.509G>A	CCDS42592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.5|22.5	4.296697|4.296697	0.81025|0.81025	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000524771|ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.37758|.	0.1015|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28870|.	-1.0030|.	3|.	.|0.02654	.|T	.|1	-7.4148|-7.4148	15.8585|15.8585	0.79005|0.79005	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	226|170;170;170;198;192;216	.|.	.|ENSP00000375724:W198X	G|W	+|+	1|2	0|0	PRMT1|PRMT1	54879994|54879994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.603000|0.603000	0.37013|0.37013	9.438000|9.438000	0.97539|0.97539	2.615000|2.615000	0.88500|0.88500	0.574000|0.574000	0.79327|0.79327	GGG|TGG		0.642	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		16	61	0	0	0	1	0	16	61				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			283755							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	58	0	0	0	1	0	4	58				
PLXNB1	5364	broad.mit.edu	37	3	48456266	48456266	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr3:48456266T>C	ENST00000358536.4	-	21	4420	c.4151A>G	c.(4150-4152)aAc>aGc	p.N1384S	PLXNB1_ENST00000456774.1_Missense_Mutation_p.N1201S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.N1384S|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.N1201S|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1384					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTCAGGGTTGAGTGGCTG	0.587																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4150-4152)aAc>aGc		plexin B1							72.0	77.0	76.0					3																	48456266		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456266T>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4151A>G	3.37:g.48456266T>C	ENSP00000351338:p.Asn1384Ser					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.N1201S|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.N1384S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.N1201S	p.N1384S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	4420	-			1384					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4151A>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890296	0.33348	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.02837	4.14;4.16;4.14;4.16	5.13	3.98	0.46160	.	0.119065	0.56097	D	0.000036	T	0.02807	0.0084	N	0.26092	0.79	0.80722	D	1	P;P	0.48407	0.91;0.815	P;B	0.47573	0.55;0.421	T	0.47459	-0.9116	10	0.02654	T	1	.	9.828	0.40923	0.0:0.0805:0.0:0.9195	.	1384;1201	O43157;O43157-2	PLXB1_HUMAN;.	S	1384;1201;1384;1201	ENSP00000296440:N1384S;ENSP00000351242:N1201S;ENSP00000351338:N1384S;ENSP00000414199:N1201S	ENSP00000296440:N1384S	N	-	2	0	PLXNB1	48431270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.963000	0.70372	0.799000	0.34018	0.533000	0.62120	AAC		0.587	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		19	77	0	0	0	1	0	19	77				
PPL	5493	broad.mit.edu	37	16	4935253	4935253	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:4935253G>A	ENST00000345988.2	-	22	3492	c.3403C>T	c.(3403-3405)Cgc>Tgc	p.R1135C	PPL_ENST00000590782.2_Missense_Mutation_p.R1133C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1135					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCATATTGGCGGGTGAGATCG	0.617																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3403-3405)Cgc>Tgc		periplakin							82.0	75.0	77.0					16																	4935253		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935253G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3403C>T	16.37:g.4935253G>A	ENSP00000340510:p.Arg1135Cys					PPL_ENST00000590782.2_Missense_Mutation_p.R1133C	p.R1135C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3492	-			1135					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3403C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214799	0.22373	.	.	ENSG00000118898	ENST00000345988	T	0.50277	0.75	5.17	3.22	0.36961	.	0.125194	0.52532	N	0.000078	T	0.36166	0.0957	L	0.43701	1.375	0.58432	D	0.999994	B	0.18610	0.029	B	0.15484	0.013	T	0.16897	-1.0387	10	0.54805	T	0.06	.	6.5834	0.22607	0.1495:0.0:0.7065:0.144	.	1135	O60437	PEPL_HUMAN	C	1135	ENSP00000340510:R1135C	ENSP00000340510:R1135C	R	-	1	0	PPL	4875254	0.601000	0.26907	0.307000	0.25127	0.813000	0.45954	2.741000	0.47426	0.601000	0.29879	-0.258000	0.10820	CGC		0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		21	74	0	0	0	1	0	21	74				
ADCY7	113	broad.mit.edu	37	16	50342585	50342585	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:50342585G>T	ENST00000394697.2	+	17	2283	c.1943G>T	c.(1942-1944)tGc>tTc	p.C648F	ADCY7_ENST00000566433.2_Missense_Mutation_p.C648F|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.C648F|ADCY7_ENST00000538642.1_Missense_Mutation_p.C648F			P51828	ADCY7_HUMAN	adenylate cyclase 7	648					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CAGAGGTGCTGCCCAGCTCGG	0.652																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1942-1944)tGc>tTc		adenylate cyclase 7	Bromocriptine(DB01200)						64.0	62.0	63.0					16																	50342585		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50342585G>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1943G>T	16.37:g.50342585G>T	ENSP00000378187:p.Cys648Phe					ADCY7_ENST00000566433.2_Missense_Mutation_p.C648F|ADCY7_ENST00000538642.1_Missense_Mutation_p.C648F|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.C648F	p.C648F			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	17	2283	+		all_cancers(37;0.0127)	648					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1943G>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.256539	0.01457	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.79749	1.1;-1.3;-1.3	5.21	3.13	0.36017	.	0.454174	0.18433	N	0.141381	T	0.63236	0.2494	N	0.20685	0.6	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.51196	-0.8736	10	0.06494	T	0.89	.	11.1903	0.48681	0.0:0.0:0.6544:0.3456	.	648;648	P51828;F5H4D1	ADCY7_HUMAN;.	F	648	ENSP00000445046:C648F;ENSP00000378187:C648F;ENSP00000254235:C648F	ENSP00000254235:C648F	C	+	2	0	ADCY7	48900086	1.000000	0.71417	0.906000	0.35671	0.031000	0.12232	2.336000	0.43938	0.501000	0.28013	0.462000	0.41574	TGC		0.652	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			21	82	1	0	4.35082e-09	1	5.13396e-09	21	82				
SALL1	6299	broad.mit.edu	37	16	51172806	51172806	+	Silent	SNP	C	C	T	rs375357921		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:51172806C>T	ENST00000251020.4	-	2	3360	c.3327G>A	c.(3325-3327)ccG>ccA	p.P1109P	SALL1_ENST00000440970.1_Silent_p.P1012P|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1109					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAGGCCCAGACGGGACGTGAC	0.562																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3034-3036)ccG>ccA		spalt-like transcription factor 1		C	,	0,4396		0,0,2198	97.0	83.0	88.0		3036,3327	-5.3	0.4	16		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	1012/1228,1109/1325	51172806	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172806C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3327G>A	16.37:g.51172806C>T						SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1109P|SALL1_ENST00000566102.1_Intron	p.P1012P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3467	-		all_cancers(37;0.0322)	1109					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3036G>A	CCDS10747.1																																																																																				0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	56	0	0	0	1	0	16	56				
CNOT1	23019	broad.mit.edu	37	16	58608604	58608604	+	Missense_Mutation	SNP	C	C	T	rs150528737		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:58608604C>T	ENST00000317147.5	-	16	2220	c.1888G>A	c.(1888-1890)Gga>Aga	p.G630R	CNOT1_ENST00000569240.1_Missense_Mutation_p.G630R|CNOT1_ENST00000441024.2_Missense_Mutation_p.G630R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	630					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.G630R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGGGCAAGTCCGCCCAAAATA	0.438																																						ENST00000317147.5																			2	Substitution - Missense(2)	p.G630R(2)	endometrium(2)	breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(1888-1890)Gga>Aga		CCR4-NOT transcription complex, subunit 1		C	ARG/GLY,ARG/GLY	1,4395	2.1+/-5.4	0,1,2197	102.0	92.0	95.0		1888,1888	5.2	1.0	16	dbSNP_134	95	0,8600		0,0,4300	no	missense,missense	CNOT1	NM_016284.3,NM_206999.1	125,125	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	630/2377,630/1552	58608604	1,12995	2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58608604C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1888G>A	16.37:g.58608604C>T	ENSP00000320949:p.Gly630Arg					CNOT1_ENST00000441024.2_Missense_Mutation_p.G630R|CNOT1_ENST00000569240.1_Missense_Mutation_p.G630R	p.G630R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	16	2220	-			630					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1888G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403552	0.96051	2.27E-4	0.0	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.17528	2.27;2.27	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.37919	0.1021	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;P;P	0.91635	0.999;0.832;0.786	T	0.02933	-1.1092	9	.	.	.	.	18.7124	0.91662	0.0:1.0:0.0:0.0	.	630;630;630	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	630;59;630;630	ENSP00000320949:G630R;ENSP00000413113:G630R	.	G	-	1	0	CNOT1	57166105	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.425000	0.82216	0.462000	0.41574	GGA		0.438	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		22	81	0	0	0	1	0	22	81				
ANXA1	301	broad.mit.edu	37	9	75777732	75777732	+	Silent	SNP	A	A	G			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr9:75777732A>G	ENST00000376911.1	+	6	1392	c.510A>G	c.(508-510)tcA>tcG	p.S170S	ANXA1_ENST00000257497.6_Silent_p.S170S			P04083	ANXA1_HUMAN	annexin A1	170					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACATAACCTCAGACACATCTG	0.328																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(508-510)tcA>tcG		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						87.0	87.0	87.0					9																	75777732		2203	4300	6503	SO:0001819	synonymous_variant	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75777732A>G	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.510A>G	9.37:g.75777732A>G						ANXA1_ENST00000257497.6_Silent_p.S170S	p.S170S			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	6	1392	+		all_epithelial(88;2.54e-11)	170						Silent	SNP	ENST00000376911.1	37	c.510A>G	CCDS6645.1																																																																																				0.328	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		5	43	0	0	0	1	0	5	43				
ZBTB49	166793	broad.mit.edu	37	4	4322503	4322503	+	Nonsense_Mutation	SNP	C	C	A	rs556959172		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:4322503C>A	ENST00000337872.4	+	8	1879	c.1758C>A	c.(1756-1758)tgC>tgA	p.C586*	ZBTB49_ENST00000538529.1_Nonsense_Mutation_p.C69*|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.C464*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C586*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGATGCACTGCAAAGCTGGTG	0.562																																						ENST00000337872.4																			1	Substitution - Nonsense(1)	p.C586*(1)	stomach(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1756-1758)tgC>tgA		zinc finger and BTB domain containing 49							62.0	57.0	59.0					4																	4322503		2203	4300	6503	SO:0001587	stop_gained	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322503C>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1758C>A	4.37:g.4322503C>A	ENSP00000338807:p.Cys586*					ZBTB49_ENST00000538529.1_Nonsense_Mutation_p.C69*|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.C464*	p.C586*	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	1879	+			586					Q59FJ4|Q5EBN0|Q8TB80	Nonsense_Mutation	SNP	ENST00000337872.4	37	c.1758C>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	47	13.791701	0.99763	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	.	.	.	4.54	2.76	0.32466	.	0.274240	0.26023	N	0.026809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.946	0.41609	0.0:0.7646:0.0:0.2354	.	.	.	.	X	464;586;69	.	ENSP00000338807:C586X	C	+	3	2	ZBTB49	4373404	0.796000	0.28864	0.377000	0.26055	0.582000	0.36321	0.913000	0.28611	1.039000	0.40074	0.455000	0.32223	TGC		0.562	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		6	56	1	0	2.0095e-06	1	2.28001e-06	6	56				
BNIP3L	665	broad.mit.edu	37	8	26238246	26238246	+	5'Flank	SNP	G	G	A	rs3195624		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr8:26238246G>A	ENST00000380629.2	+	0	0				BNIP3L_ENST00000523515.1_5'Flank|BNIP3L_ENST00000520409.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CTGTTGGTCCGTCATCCTCAG	0.418																																						ENST00000519902.1																			0																																																	SO:0001631	upstream_gene_variant	157489							g.chr8:26238246G>A	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26238246G>A	Exception_encountered													0	1702	-								B0AZS9|Q5JW63|Q8NF87	RNA	SNP	ENST00000380629.2	37		CCDS6050.1																																																																																				0.418	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216895.1	NM_004331		11	123	0	0	0	1	0	11	123				
COL9A3	1299	broad.mit.edu	37	20	61468572	61468572	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:61468572G>A	ENST00000343916.3	+	30	1744	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	581	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGACCCCCTGGATACCGCGG	0.672																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1741-1743)Gga>Aga		collagen, type IX, alpha 3							27.0	37.0	34.0					20																	61468572		2198	4297	6495	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61468572G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1741G>A	20.37:g.61468572G>A	ENSP00000341640:p.Gly581Arg					COL9A3_ENST00000462700.1_3'UTR	p.G581R	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			30	1744	+	Breast(26;5.68e-08)		581			Triple-helical region 2 (COL2).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1741G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757529	0.89843	.	.	ENSG00000092758	ENST00000343916	D	0.99186	-5.53	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97142	0.9825	10	0.87932	D	0	.	17.843	0.88720	0.0:0.0:1.0:0.0	.	84;581	Q9BT15;Q14050	.;CO9A3_HUMAN	R	581	ENSP00000341640:G581R	ENSP00000341640:G581R	G	+	1	0	COL9A3	60939017	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	9.266000	0.95659	2.211000	0.71520	0.561000	0.74099	GGA		0.672	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		19	153	0	0	0	1	0	19	153				
DMP1	1758	broad.mit.edu	37	4	88580599	88580599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:88580599C>A	ENST00000339673.6	+	5	251	c.152C>A	c.(151-153)tCa>tAa	p.S51*	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	51					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGTGAGTCATCAGAAGGCAGT	0.348																																						ENST00000339673.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32						c.(151-153)tCa>tAa		dentin matrix acidic phosphoprotein 1							100.0	106.0	104.0					4																	88580599		2203	4300	6503	SO:0001587	stop_gained	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88580599C>A	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.152C>A	4.37:g.88580599C>A	ENSP00000340935:p.Ser51*					RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	p.S51*	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	5	251	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	51					A1L4L3|O43265	Nonsense_Mutation	SNP	ENST00000339673.6	37	c.152C>A	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390613	0.62066	.	.	ENSG00000152592	ENST00000339673	.	.	.	6.07	5.21	0.72293	.	0.000000	0.46442	D	0.000288	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7185	12.5271	0.56093	0.1665:0.8335:0.0:0.0	.	.	.	.	X	51	.	ENSP00000340935:S51X	S	+	2	0	DMP1	88799623	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	2.111000	0.41883	1.513000	0.48852	0.655000	0.94253	TCA		0.348	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			33	68	1	0	2.68265e-12	1	3.26343e-12	33	68				
HES4	57801	broad.mit.edu	37	1	934936	934936	+	Silent	SNP	G	G	A	rs375139682		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:934936G>A	ENST00000304952.6	-	3	399	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000484667.2_Silent_p.L56L|HES4_ENST00000428771.2_Silent_p.L114L			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	88	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGCTCCGCAGGTGTCTCACG	0.741																																						ENST00000428771.2																			0				lung(2)	2						c.(340-342)Ctg>Ttg		hes family bHLH transcription factor 4							12.0	15.0	14.0					1																	934936		2148	4258	6406	SO:0001819	synonymous_variant	57801				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:934936G>A	BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"""Basic helix-loop-helix proteins"""	24149	protein-coding gene	gene with protein product		608060	"""hairy and enhancer of split 4 (Drosophila)"""			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.262C>T	1.37:g.934936G>A						HES4_ENST00000304952.6_Silent_p.L88L|HES4_ENST00000484667.2_Silent_p.L56L	p.L114L	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	538	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	88			Orange.		Q5SVA5	Silent	SNP	ENST00000304952.6	37	c.340C>T	CCDS5.1																																																																																				0.741	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097944.1	NM_021170		5	40	0	0	0	1	0	5	40				
SPECC1	92521	broad.mit.edu	37	17	20130899	20130899	+	Silent	SNP	G	G	A	rs549927417		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:20130899G>A	ENST00000261503.5	+	5	2088	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	SPECC1_ENST00000395522.2_Silent_p.K598K|SPECC1_ENST00000536879.1_Silent_p.K19K|SPECC1_ENST00000395527.4_Silent_p.K679K|SPECC1_ENST00000395530.2_Silent_p.K598K|SPECC1_ENST00000395525.3_Silent_p.K598K|SPECC1_ENST00000395529.3_Silent_p.K679K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_Silent_p.K97K|SPECC1_ENST00000472876.1_3'UTR	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	679					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGGCTGTCAAGTTACACAATA	0.463																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1792-1794)aaG>aaA		sperm antigen with calponin homology and coiled-coil domains 1							74.0	68.0	70.0					17																	20130899		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20130899G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2037G>A	17.37:g.20130899G>A						SPECC1_ENST00000395525.3_Silent_p.K598K|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395522.2_Silent_p.K598K|SPECC1_ENST00000395529.3_Silent_p.K679K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.K679K|SPECC1_ENST00000395527.4_Silent_p.K679K|SPECC1_ENST00000536879.1_Silent_p.K19K|SPECC1_ENST00000584527.1_Silent_p.K97K	p.K598K	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	3	2002	+			679					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.1794G>A	CCDS32590.1																																																																																				0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		7	62	0	0	0	1	0	7	62				
NASP	4678	broad.mit.edu	37	1	46080809	46080809	+	Missense_Mutation	SNP	C	C	G	rs139279656	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:46080809C>G	ENST00000350030.3	+	10	1878	c.1791C>G	c.(1789-1791)aaC>aaG	p.N597K	NASP_ENST00000537798.1_Missense_Mutation_p.N533K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.N258K|NASP_ENST00000372052.4_Missense_Mutation_p.N231K|NASP_ENST00000402363.3_Missense_Mutation_p.N599K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	597	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ATGGGTACAACTCTCAGTATG	0.507													C|||	18	0.00359425	0.0	0.0086	5008	,	,		18586	0.0		0.005	False		,,,				2504	0.0072					ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1789-1791)aaC>aaG		nuclear autoantigenic sperm protein (histone-binding)		C	LYS/ASN,LYS/ASN,LYS/ASN	4,4402	8.1+/-20.4	0,4,2199	103.0	95.0	98.0		1599,1791,774	4.4	1.0	1	dbSNP_134	98	42,8558	28.5+/-78.6	0,42,4258	no	missense,missense,missense	NASP	NM_001195193.1,NM_002482.3,NM_152298.3	94,94,94	0,46,6457	GG,GC,CC		0.4884,0.0908,0.3537	possibly-damaging,possibly-damaging,possibly-damaging	533/725,597/789,258/450	46080809	46,12960	2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46080809C>G	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1791C>G	1.37:g.46080809C>G	ENSP00000255120:p.Asn597Lys					NASP_ENST00000537798.1_Missense_Mutation_p.N533K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Missense_Mutation_p.N599K|NASP_ENST00000372052.4_Missense_Mutation_p.N231K|NASP_ENST00000351223.3_Missense_Mutation_p.N258K	p.N597K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			10	1878	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		597			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1791C>G	CCDS524.1	5|5|5	0.0022893772893772895|0.0022893772893772895|0.0022893772893772895	0|0|0	0.0|0.0|0.0	2|2|2	0.0055248618784530384|0.0055248618784530384|0.0055248618784530384	0|0|0	0.0|0.0|0.0	3|3|3	0.00395778364116095|0.00395778364116095|0.00395778364116095	C|C|C	17.01|17.01|17.01	3.279502|3.279502|3.279502	0.59758|0.59758|0.59758	9.08E-4|9.08E-4|9.08E-4	0.004884|0.004884|0.004884	ENSG00000132780|ENSG00000132780|ENSG00000132780	ENST00000534450|ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223|ENST00000531612	.|T;T;T;T;T;T|.	.|0.62364|.	.|0.03;0.03;0.03;0.03;0.03;0.03|.	5.3|5.3|5.3	4.38|4.38|4.38	0.52667|0.52667|0.52667	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	.|0.211097|.	.|0.56097|.	.|D|.	.|0.000027|.	T|T|T	0.51449|0.51449|0.51449	0.1675|0.1675|0.1675	L|L|L	0.51422|0.51422|0.51422	1.61|1.61|1.61	0.40816|0.40816|0.40816	D|D|D	0.98346|0.98346|0.98346	.|P;D;D;B|.	.|0.55172|.	.|0.694;0.97;0.961;0.062|.	.|B;P;P;B|.	.|0.58577|.	.|0.281;0.725;0.841;0.062|.	T|T|T	0.55945|0.55945|0.55945	-0.8060|-0.8060|-0.8060	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-8.4359|-8.4359|-8.4359	11.1394|11.1394|11.1394	0.48394|0.48394|0.48394	0.0:0.8516:0.0:0.1484|0.0:0.8516:0.0:0.1484|0.0:0.8516:0.0:0.1484	.|.|.	.|533;258;597;599|.	.|F5H3J2;Q5T626;P49321;P49321-3|.	.|.;.;NASP_HUMAN;.|.	V|K|S	27|533;599;497;194;597;231;258|122	.|ENSP00000438871:N533K;ENSP00000384529:N599K;ENSP00000432289:N194K;ENSP00000255120:N597K;ENSP00000361122:N231K;ENSP00000255121:N258K|.	.|ENSP00000345532:N497K|.	L|N|T	+|+|+	1|3|2	0|2|0	NASP|NASP|NASP	45853396|45853396|45853396	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.255000|2.255000|2.255000	0.43222|0.43222|0.43222	1.368000|1.368000|1.368000	0.46115|0.46115|0.46115	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CTC|AAC|ACT		0.507	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		5	85	0	0	0	1	0	5	85				
TAS2R14	50840	broad.mit.edu	37	12	11091149	11091149	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:11091149C>T	ENST00000537503.1	-	1	713	c.658G>A	c.(658-660)Gga>Aga	p.G220R	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	220					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTGGCGTCTCCGGATATTTTG	0.428																																						ENST00000537503.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(658-660)Gga>Aga		taste receptor, type 2, member 14							72.0	82.0	79.0					12																	11091149		2203	4300	6503	SO:0001583	missense	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091149C>T	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.658G>A	12.37:g.11091149C>T	ENSP00000441949:p.Gly220Arg					TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	p.G220R	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN			1	713	-			220					Q645X3	Missense_Mutation	SNP	ENST00000537503.1	37	c.658G>A	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	C	0.458	-0.890475	0.02491	.	.	ENSG00000212127	ENST00000537503	T	0.32753	1.44	3.95	-7.9	0.01169	.	0.496724	0.17961	N	0.156190	T	0.03390	0.0098	N	0.00086	-2.195	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.18366	-1.0339	10	0.02654	T	1	.	7.7382	0.28827	0.0:0.323:0.4957:0.1813	.	220	Q9NYV8	T2R14_HUMAN	R	220	ENSP00000441949:G220R	ENSP00000375094:G220R	G	-	1	0	TAS2R14	10982416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.691000	0.05133	-2.357000	0.00612	-1.321000	0.01291	GGA		0.428	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		8	98	0	0	0	1	0	8	98				
SSPO	23145	broad.mit.edu	37	7	149525064	149525064	+	RNA	SNP	G	G	A	rs534887466		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:149525064G>A	ENST00000378016.2	+	0	14975							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCTTGGGCGTCCCCACCTG	0.667													A|||	1	0.000199681	0.0008	0.0	5008	,	,		16057	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							39.0	49.0	46.0					7																	149525064		2078	4189	6267			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149525064G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149525064G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14975	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	37	0	0	0	1	0	4	37				
PCDHA1	56147	broad.mit.edu	37	5	140167364	140167364	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:140167364C>T	ENST00000504120.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R497W|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R497W	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAACGGCGGGTGGG	0.672																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1489-1491)Cgg>Tgg									64.0	69.0	68.0					5																	140167364		2203	4298	6501	SO:0001583	missense	56147							g.chr5:140167364C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1489C>T	5.37:g.140167364C>T	ENSP00000420840:p.Arg497Trp					PCDHA1_ENST00000378133.3_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R497W	p.R497W	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1489C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	14.15	2.448959	0.43531	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.52295	0.67;0.67;0.67	3.63	1.55	0.23275	Cadherin (4);Cadherin-like (1);	0.479877	0.14488	U	0.316512	T	0.54854	0.1884	L	0.49350	1.555	0.19300	N	0.999979	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.65140	0.932;0.908;0.921	T	0.38308	-0.9667	10	0.87932	D	0	.	6.1291	0.20195	0.4161:0.3603:0.2236:0.0	.	497;497;497	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	W	497	ENSP00000420840:R497W;ENSP00000378129:R497W;ENSP00000367373:R497W	ENSP00000367373:R497W	R	+	1	2	PCDHA1	140147548	0.973000	0.33851	0.998000	0.56505	0.561000	0.35649	-0.131000	0.10482	0.636000	0.30508	-0.334000	0.08254	CGG		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		15	111	0	0	0	1	0	15	111				
PNMA5	114824	broad.mit.edu	37	X	152159177	152159177	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chrX:152159177C>T	ENST00000439251.1	-	2	1404	c.966G>A	c.(964-966)atG>atA	p.M322I	PNMA5_ENST00000361887.5_Missense_Mutation_p.M322I|PNMA5_ENST00000452693.1_Missense_Mutation_p.M322I|PNMA5_ENST00000535214.1_Missense_Mutation_p.M322I	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	322					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAATGAGCTTCATTAACTCCA	0.557																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(964-966)atG>atA		paraneoplastic Ma antigen family member 5							40.0	40.0	40.0					X																	152159177		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159177C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.966G>A	X.37:g.152159177C>T	ENSP00000388850:p.Met322Ile					PNMA5_ENST00000361887.5_Missense_Mutation_p.M322I|PNMA5_ENST00000452693.1_Missense_Mutation_p.M322I|PNMA5_ENST00000535214.1_Missense_Mutation_p.M322I	p.M322I	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1404	-	Acute lymphoblastic leukemia(192;6.56e-05)		322					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.966G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.567145	0.28003	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	3.07	1.0	0.19881	.	.	.	.	.	T	0.04724	0.0128	N	0.12746	0.255	0.09310	N	1	B	0.26081	0.141	B	0.20955	0.032	T	0.42816	-0.9429	9	0.25751	T	0.34	0.8025	2.9554	0.05875	0.3555:0.4875:0.0:0.157	.	322	Q96PV4	PNMA5_HUMAN	I	322	ENSP00000354834:M322I;ENSP00000445775:M322I;ENSP00000388850:M322I;ENSP00000392342:M322I	ENSP00000354834:M322I	M	-	3	0	PNMA5	151909833	0.710000	0.27896	0.002000	0.10522	0.347000	0.29111	0.476000	0.22180	0.105000	0.17753	0.287000	0.19450	ATG		0.557	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		11	117	0	0	0	1	0	11	117				
CARF	79800	broad.mit.edu	37	2	203807531	203807531	+	Silent	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr2:203807531C>T	ENST00000402905.3	+	4	468	c.147C>T	c.(145-147)atC>atT	p.I49I	CARF_ENST00000428585.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000444724.1_Silent_p.I49I|CARF_ENST00000456821.2_Silent_p.I37I|CARF_ENST00000320443.8_Silent_p.I49I|CARF_ENST00000545262.1_Intron|CARF_ENST00000414439.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000438828.2_Silent_p.I49I	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	49					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTTGCCCATCACTACTCGTG	0.413																																						ENST00000320443.8																			0											c.(145-147)atC>atT		calcium responsive transcription factor							81.0	77.0	78.0					2																	203807531		1862	4102	5964	SO:0001819	synonymous_variant	79800							g.chr2:203807531C>T	AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.147C>T	2.37:g.203807531C>T						CARF_ENST00000545253.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000402905.2_Silent_p.I49I|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000428585.1_Intron|CARF_ENST00000456821.2_Silent_p.I37I|CARF_ENST00000444724.1_Silent_p.I49I|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000438828.2_Silent_p.I49I	p.I49I							4	1190	+								B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Silent	SNP	ENST00000402905.3	37	c.147C>T	CCDS42801.1																																																																																				0.413	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586		17	61	0	0	0	1	0	17	61				
SPRY1	10252	broad.mit.edu	37	4	124323326	124323326	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:124323326G>T	ENST00000394339.2	+	2	920	c.580G>T	c.(580-582)Gct>Tct	p.A194S	SPRY1_ENST00000339241.1_Missense_Mutation_p.A194S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	194	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AGAATGCACTGCTCCCAGGAC	0.507																																						ENST00000394339.2																			0				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						c.(580-582)Gct>Tct		sprouty homolog 1, antagonist of FGF signaling (Drosophila)							180.0	150.0	160.0					4																	124323326		2203	4300	6503	SO:0001583	missense	10252				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		g.chr4:124323326G>T	AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.580G>T	4.37:g.124323326G>T	ENSP00000377871:p.Ala194Ser					SPRY1_ENST00000339241.1_Missense_Mutation_p.A194S	p.A194S	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN			2	920	+			194			Cys-rich.|SPR.		D3DNX6|Q6PNE0	Missense_Mutation	SNP	ENST00000394339.2	37	c.580G>T	CCDS3731.1	.	.	.	.	.	.	.	.	.	.	G	6.158	0.397411	0.11638	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.55234	0.53;1.43;0.53	5.06	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.39397	1.21	0.49213	D	0.99976	P	0.41420	0.749	B	0.39339	0.297	T	0.33727	-0.9857	9	.	.	.	-13.5414	14.337	0.66598	0.0:0.0:0.8505:0.1495	.	194	O43609	SPY1_HUMAN	S	194	ENSP00000343785:A194S;ENSP00000421036:A194S;ENSP00000377871:A194S	.	A	+	1	0	SPRY1	124542776	0.998000	0.40836	0.903000	0.35520	0.964000	0.63967	4.668000	0.61568	1.299000	0.44798	0.561000	0.74099	GCT		0.507	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256711.1			10	125	1	0	7.48243e-07	1	8.5721e-07	10	125				
HOXB3	3213	broad.mit.edu	37	17	46629806	46629806	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:46629806C>T	ENST00000470495.1	-	1	1478	c.31G>A	c.(31-33)Gcg>Acg	p.A11T	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.A11T|HOXB3_ENST00000490677.1_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A11T|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.A11T|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron			P14651	HXB3_HUMAN	homeobox B3	11					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGAGCAGCCGCGGCGTTGTCG	0.622																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(31-33)Gcg>Acg		homeobox B3							42.0	49.0	47.0					17																	46629806		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629806C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.31G>A	17.37:g.46629806C>T	ENSP00000417207:p.Ala11Thr					HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.A11T|HOXB3_ENST00000498678.1_Missense_Mutation_p.A11T|HOXB3_ENST00000476342.1_Missense_Mutation_p.A11T|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron	p.A11T			P14651	HXB3_HUMAN			1	1478	-			11					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.31G>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	3.545	-0.092900	0.07053	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	3.85	1.78	0.24846	.	0.381500	0.20073	N	0.099825	T	0.79076	0.4385	L	0.28115	0.83	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63382	-0.6650	10	0.18710	T	0.47	.	2.4753	0.04575	0.2174:0.4254:0.0:0.3572	.	11	P14651	HXB3_HUMAN	T	11	ENSP00000417207:A11T;ENSP00000308252:A11T;ENSP00000420595:A11T;ENSP00000418892:A11T	ENSP00000308252:A11T	A	-	1	0	HOXB3	43984805	0.015000	0.18098	0.359000	0.25824	0.013000	0.08279	0.113000	0.15499	0.384000	0.24942	-0.339000	0.08088	GCG		0.622	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			12	42	0	0	0	1	0	12	42				
GRTP1	79774	broad.mit.edu	37	13	113979878	113979878	+	Intron	SNP	C	C	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr13:113979878C>T	ENST00000375431.4	-	7	996				GRTP1_ENST00000326039.3_Missense_Mutation_p.G262E|GRTP1_ENST00000375430.4_Missense_Mutation_p.G340E	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1								Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCACTGGTGCCCGTCCTGTGC	0.701																																						ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(1018-1020)gGg>gAg		growth hormone regulated TBC protein 1							30.0	31.0	31.0					13																	113979878		692	1591	2283	SO:0001627	intron_variant	79774					intracellular	Rab GTPase activator activity	g.chr13:113979878C>T	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.921+97G>A	13.37:g.113979878C>T						GRTP1_ENST00000326039.3_Missense_Mutation_p.G262E|GRTP1_ENST00000375431.4_Intron	p.G340E			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		7	1065	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	0					B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.1019G>A	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	C	7.737	0.700506	0.15106	.	.	ENSG00000139835	ENST00000326039;ENST00000375430	T;T	0.13196	2.61;2.84	0.886	-0.0777	0.13717	.	.	.	.	.	T	0.06645	0.0170	.	.	.	0.09310	N	1	B	0.31893	0.345	B	0.16722	0.016	T	0.33007	-0.9885	8	0.37606	T	0.19	.	3.9181	0.09231	0.4161:0.5839:0.0:0.0	.	340	B9A6K2	.	E	262;340	ENSP00000321850:G262E;ENSP00000364579:G340E	ENSP00000321850:G262E	G	-	2	0	GRTP1	113027879	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.631000	0.02026	-0.058000	0.13177	0.313000	0.20887	GGG		0.701	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		6	14	0	0	0	1	0	6	14				
GP1BA	2811	broad.mit.edu	37	17	4836833	4836833	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr17:4836833G>C	ENST00000329125.5	+	2	1009	c.934G>C	c.(934-936)Gtc>Ctc	p.V312L		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	312					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						AAGGACTGTGGTCAAGTTCCC	0.542																																						ENST00000329125.5																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(934-936)Gtc>Ctc		glycoprotein Ib (platelet), alpha polypeptide							121.0	113.0	116.0					17																	4836833		1994	4165	6159	SO:0001583	missense	2811							g.chr17:4836833G>C		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.934G>C	17.37:g.4836833G>C	ENSP00000329380:p.Val312Leu						p.V312L	NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN			2	1009	+			312					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	ENST00000329125.5	37	c.934G>C	CCDS54068.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188999	0.38707	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	T	0.51325	0.71	4.1	0.738	0.18319	.	1.204530	0.06503	N	0.736580	T	0.45915	0.1366	L	0.55481	1.735	0.09310	N	1	P	0.42409	0.779	B	0.44315	0.446	T	0.38265	-0.9669	10	0.46703	T	0.11	-3.767	5.2896	0.15719	0.4046:0.0:0.5954:0.0	.	312	A5CKE2	.	L	312	ENSP00000329380:V312L	ENSP00000329380:V312L	V	+	1	0	GP1BA	4777613	0.000000	0.05858	0.002000	0.10522	0.352000	0.29268	0.013000	0.13310	0.378000	0.24764	0.313000	0.20887	GTC		0.542	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			18	182	0	0	0	1	0	18	182				
IL31RA	133396	broad.mit.edu	37	5	55192224	55192224	+	Silent	SNP	G	G	A	rs141877896	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr5:55192224G>A	ENST00000447346.2	+	7	884	c.819G>A	c.(817-819)gcG>gcA	p.A273A	IL31RA_ENST00000396834.1_Silent_p.A254A|IL31RA_ENST00000297015.3_Silent_p.A131A|IL31RA_ENST00000354961.4_Silent_p.A254A|IL31RA_ENST00000490985.1_Silent_p.A131A|IL31RA_ENST00000396836.2_Silent_p.A273A|IL31RA_ENST00000359040.5_Silent_p.A273A	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	241	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGCTGAGGCGGATGGAAGAA	0.527																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(760-762)gcG>gcA		interleukin 31 receptor A		G	,,,,	0,4406		0,0,2203	237.0	238.0	238.0		762,819,762,393,819	-7.1	0.0	5	dbSNP_134	238	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IL31RA	NM_001242636.1,NM_001242637.1,NM_001242638.1,NM_001242639.1,NM_139017.5	,,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,	254/746,273/682,254/663,131/623,273/765	55192224	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55192224G>A	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.819G>A	5.37:g.55192224G>A						IL31RA_ENST00000447346.2_Silent_p.A273A|IL31RA_ENST00000396836.2_Silent_p.A273A|IL31RA_ENST00000354961.4_Silent_p.A254A|IL31RA_ENST00000297015.3_Silent_p.A131A|IL31RA_ENST00000490985.1_Silent_p.A131A|IL31RA_ENST00000359040.5_Silent_p.A273A	p.A254A	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			9	1258	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	241			Fibronectin type-III 3.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.762G>A	CCDS3970.2																																																																																				0.527	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		7	55	0	0	0	1	0	7	55				
ANKS1B	56899	broad.mit.edu	37	12	100200390	100200390	+	Missense_Mutation	SNP	G	G	A	rs538042406		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr12:100200390G>A	ENST00000547776.2	-	4	460	c.461C>T	c.(460-462)cCg>cTg	p.P154L	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P154L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	154						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCTAATTGTCGGGTCAGTGAG	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17874	0.0		0.0	False		,,,				2504	0.0					ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(460-462)cCg>cTg		ankyrin repeat and sterile alpha motif domain containing 1B							123.0	119.0	120.0					12																	100200390		1955	4156	6111	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100200390G>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.461C>T	12.37:g.100200390G>A	ENSP00000449629:p.Pro154Leu					ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P154L	p.P154L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	4	460	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	154					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.461C>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969758	0.74246	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.70516	0.67;0.67;-0.49	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	N	0.04320	-0.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.71981	-0.4428	9	.	.	.	-8.984	18.9275	0.92550	0.0:0.0:1.0:0.0	.	154;154	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	L	154	ENSP00000449629:P154L;ENSP00000331381:P154L;ENSP00000449894:P154L	.	P	-	2	0	ANKS1B	98724521	1.000000	0.71417	0.737000	0.30932	0.411000	0.31082	9.848000	0.99507	2.467000	0.83353	0.557000	0.71058	CCG		0.438	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		9	49	0	0	0	1	0	9	49				
ACTRT2	140625	broad.mit.edu	37	1	2938391	2938391	+	Silent	SNP	C	C	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:2938391C>A	ENST00000378404.2	+	1	346	c.141C>A	c.(139-141)ccC>ccA	p.P47P		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	47						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCCAGGCTCCCTCAGCAGAGG	0.607																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(139-141)ccC>ccA		actin-related protein T2							40.0	40.0	40.0					1																	2938391		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2938391C>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.141C>A	1.37:g.2938391C>A							p.P47P	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	346	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	47					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.141C>A	CCDS45.1																																																																																				0.607	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		5	74	1	0	0.000602214	1	0.00067039	5	74				
BPI	671	broad.mit.edu	37	20	36952427	36952427	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr20:36952427G>T	ENST00000262865.4	+	8	1013	c.924G>T	c.(922-924)aaG>aaT	p.K308N	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	308					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGGTCTTGAAGATGACCCTTA	0.542																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(922-924)aaG>aaT		bactericidal/permeability-increasing protein							62.0	58.0	60.0					20																	36952427		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952427G>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.924G>T	20.37:g.36952427G>T	ENSP00000262865:p.Lys308Asn					CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	p.K308N	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	1013	+		Myeloproliferative disorder(115;0.00878)	308					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.924G>T	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.003|0.003	-2.412354|-2.412354	0.00191|0.00191	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.09350|.	2.99|.	4.5|4.5	-9.01|-9.01	0.00744|0.00744	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	1.558940|.	0.03551|.	N|.	0.225429|.	T|T	0.07413|0.07413	0.0187|0.0187	N|N	0.01751|0.01751	-0.74|-0.74	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.09377|.	0.004|.	T|T	0.10660|0.10660	-1.0620|-1.0620	10|5	0.06625|.	T|.	0.88|.	-1.4241|-1.4241	2.8228|2.8228	0.05477|0.05477	0.3529:0.3537:0.0883:0.2051|0.3529:0.3537:0.0883:0.2051	.|.	308|.	P17213|.	BPI_HUMAN|.	N|I	308|134	ENSP00000262865:K308N|.	ENSP00000262865:K308N|.	K|R	+|+	3|2	2|0	BPI|BPI	36385841|36385841	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.274000|-2.274000	0.01163|0.01163	-4.656000|-4.656000	0.00037|0.00037	-0.882000|-0.882000	0.02950|0.02950	AAG|AGA		0.542	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		11	37	1	0	0.000673444	1	0.000742677	11	37				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			7	33						7	33	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		9	229						9	229	---	---	---	---
GORAB	92344	broad.mit.edu	37	1	170501106	170501107	+	5'Flank	DEL	GA	GA	-			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:170501106_170501107delGA	ENST00000367763.3	+	0	0				RP11-576I22.2_ENST00000456083.1_RNA|GORAB_ENST00000367762.1_5'Flank|RP11-576I22.2_ENST00000421020.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting							cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGAAACAATGAGAGAGAGAGA	0.505																																						ENST00000421020.1																			0																																																	SO:0001631	upstream_gene_variant	101928650							g.chr1:170501106_170501107delGA	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228		1.37:g.170501116_170501117delGA	Exception_encountered					RP11-576I22.2_ENST00000456083.1_RNA								0	34_35	-								Q49A22|Q6P1P9|Q9HAE6|Q9Y350	RNA	DEL	ENST00000367763.3	37		CCDS1289.1																																																																																				0.505	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		2	4						2	4	---	---	---	---
KLHL12	59349	broad.mit.edu	37	1	202888952	202888953	+	Frame_Shift_Ins	INS	-	-	TGTG			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr1:202888952_202888953insTGTG	ENST00000367261.3	-	3	497_498	c.279_280insCACA	c.(277-282)acagaafs	p.E94fs	KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.E132fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)		p.E94K(1)		NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTACTGTTTCTGTGTACACAA	0.401																																						ENST00000367261.3																			1	Substitution - Missense(1)	p.E94K(1)	NS(1)	NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(277-282)acaaacfs		kelch-like family member 12																																				SO:0001589	frameshift_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202888952_202888953insTGTG	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.276_279dupCACA	1.37:g.202888953_202888956dupTGTG	ENSP00000356230:p.Glu94fs					KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.N132fs	p.N94fs	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	497_498	-			94			BTB.		A6NEN8|B7Z7B8|Q9HBX5	Frame_Shift_Ins	INS	ENST00000367261.3	37	c.279_280insCACA	CCDS1429.1																																																																																				0.401	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		9	111						9	111	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA	rs530801181	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)tcafs	p.S211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663														130	0.0259585	0.0091	0.0447	5008	,	,		13632	0.003		0.0586	False		,,,				2504	0.0256					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(631-633)acafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388930_1388931insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.634_635dupCA	4.37:g.1388933_1388934dupCA	ENSP00000323978:p.Ser211fs						p.T211fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3591_3592	+			211					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.631_632insCA	CCDS3349.1																																																																																				0.663	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		9	165						9	165	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187524392	187524393	+	Frame_Shift_Ins	INS	-	-	TGTGT			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr4:187524392_187524393insTGTGT	ENST00000441802.2	-	19	11496_11497	c.11287_11288insACACA	c.(11287-11289)agcfs	p.S3763fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3763					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTGGCTGTGCTGTGTGTTGAC	0.515										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11287-11289)cacfs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524392_187524393insTGTGT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11283_11287dupACACA	4.37:g.187524393_187524397dupTGTGT	ENSP00000406229:p.Ser3763fs	HNSCC(5;0.00058)					p.-3762fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			19	11496_11497	-									Frame_Shift_Ins	INS	ENST00000441802.2	37	c.11287_11288insACACA	CCDS47177.1																																																																																				0.515	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	31						13	31	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38749052	38749053	+	Frame_Shift_Ins	INS	-	-	C	rs200007655		TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:38749052_38749053insC	ENST00000359357.3	+	14	1765_1766	c.1511_1512insC	c.(1510-1515)gaccccfs	p.DP504fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.DP721fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.DP504fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	504					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAAGATGACCCCCCTCTTG	0.381																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1510-1512)gccfs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38749052_38749053insC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1517dupC	6.37:g.38749058_38749058dupC	ENSP00000352312:p.Asp504fs					DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.A504fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.A721fs	p.A504fs							14	1765_1766	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.1511_1512insC																																																																																					0.381	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		39	99						39	99	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79657436	79657437	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr6:79657436_79657437insA	ENST00000275034.4	-	36	4276_4277	c.4109_4110insT	c.(4108-4110)ttafs	p.L1370fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1370	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCCCAGCCTCTAAAGTTTCTCT	0.376																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4108-4110)tgafs		pleckstrin homology domain interacting protein																																				SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79657436_79657437insA	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4110dupT	6.37:g.79657439_79657439dupA	ENSP00000275034:p.Leu1370fs					PHIP_ENST00000479165.1_5'UTR	p.*1370fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	36	4276_4277	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1370			Bromo 2.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Ins	INS	ENST00000275034.4	37	c.4109_4110insT	CCDS4987.1																																																																																				0.376	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			12	99						12	99	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
IGHJ6	28475	broad.mit.edu	37	14	106329451	106329453	+	RNA	DEL	GTA	GTA	-	rs373021870|rs2338626|rs2338627|rs67183528|rs2338628|rs376479093	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr14:106329451_106329453delGTA	ENST00000390560.2	-	0	15_17				IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ3_ENST00000463911.1_RNA|IGHD7-27_ENST00000439842.1_RNA					immunoglobulin heavy joining 6																		AGACGTCCATGTAGTAGTAGTAG	0.537																																						ENST00000390560.2																			0																																																			28475							g.chr14:106329451_106329453delGTA	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329460_106329462delGTA														0	15_17	-									RNA	DEL	ENST00000390560.2	37																																																																																						0.537	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		7	141						7	141	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	Splice_Site	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs148114931|rs365499|rs62034314|rs62034315|rs441214	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000431282.1	+	2	1046_1058	c.1036_1048delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1050)gggacagcctcagga>ga	p.GTASG346del	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_In_Frame_Del_p.GTASGGEEA355del|APOBR_ENST00000328423.5_Splice_Site_p.GTASG346del|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	346	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1036-1062)del		apolipoprotein B receptor				815,1911		288,239,836						-6.7	0.0		dbSNP_107	12	1986,4414		639,708,1853	no	coding-near-splice	APOBR	NM_018690.3		927,947,2689	A1A1,A1R,RR		31.0312,29.8973,30.6925				2801,6325				SO:0001630	splice_region_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1048+1GGGACAGCCTCAGGAGGGGAGGAGGCC>-	16.37:g.28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC						APOBR_ENST00000431282.1_Splice_Site_p.346_splice|APOBR_ENST00000328423.5_Splice_Site_p.346_splice	p.GTASGGEEA355del	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	1069_1095	+			355			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC																																																																																					0.705	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804	In_Frame_Del	7	26						7	26	---	---	---	---
LL22NC03-86D4.1	105373010	broad.mit.edu	37	22	34492099	34492099	+	lincRNA	DEL	G	G	-	rs200221790|rs577791388	byFrequency	TCGA-CQ-A4CE-01A-11D-A25Y-08	TCGA-CQ-A4CE-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6524812b-4120-4ec8-addf-84f32c91740a	c02303bf-9254-4df8-9257-7caebbcf1d2a	g.chr22:34492099delG	ENST00000412218.1	+	0	114																											gtttTTTTTTGTTTTTGTTTT	0.363																																						ENST00000412218.1																			0																																																			105373010							g.chr22:34492099delG																													22.37:g.34492099delG														0	114	+									RNA	DEL	ENST00000412218.1	37																																																																																						0.363	LL22NC03-86D4.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320580.3			4	6						4	6	---	---	---	---
