#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
DAB2IP	153090	broad.mit.edu	37	9	124535682	124535682	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:124535682G>C	ENST00000408936.3	+	12	3057	c.2875G>C	c.(2875-2877)Gat>Cat	p.D959H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.D835H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.D931H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	959					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCCTCACCTGATTGGGTGGG	0.687																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2875-2877)Gat>Cat		DAB2 interacting protein							12.0	15.0	14.0					9																	124535682		2197	4299	6496	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535682G>C	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2875G>C	9.37:g.124535682G>C	ENSP00000386183:p.Asp959His					DAB2IP_ENST00000309989.1_Missense_Mutation_p.D835H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.D931H	p.D959H			Q5VWQ8	DAB2P_HUMAN			12	3057	+			959					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2875G>C		.	.	.	.	.	.	.	.	.	.	G	12.95	2.092904	0.36952	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	4.7	4.7	0.59300	.	0.164424	0.52532	D	0.000072	T	0.33933	0.0880	M	0.62723	1.935	0.58432	D	0.999998	D;B	0.76494	0.999;0.18	D;B	0.70487	0.969;0.2	T	0.03148	-1.1067	10	0.39692	T	0.17	.	16.6356	0.85058	0.0:0.0:1.0:0.0	.	959;931	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	H	931;959;868;835	ENSP00000259371:D931H;ENSP00000386183:D959H;ENSP00000362887:D868H;ENSP00000310827:D835H	ENSP00000259371:D931H	D	+	1	0	DAB2IP	123575503	1.000000	0.71417	0.544000	0.28141	0.058000	0.15608	4.189000	0.58358	2.169000	0.68431	0.313000	0.20887	GAT		0.687	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		8	10	0	0	0	1	0	8	10				
RPL13A	23521	broad.mit.edu	37	19	49994709	49994709	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:49994709G>A	ENST00000391857.4	+	7	506	c.430G>A	c.(430-432)Gag>Aag	p.E144K	SNORD32A_ENST00000364805.1_RNA|SNORD33_ENST00000362761.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	144					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGGCTCACGAGGTTGGCTG	0.577																																						ENST00000391857.4																			0				cervix(1)|endometrium(1)	2						c.(430-432)Gag>Aag		ribosomal protein L13a							5.0	4.0	4.0					19																	49994709		1405	2458	3863	SO:0001583	missense	23521				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr19:49994709G>A	X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.430G>A	19.37:g.49994709G>A	ENSP00000375730:p.Glu144Lys					RPL13A_ENST00000477613.2_3'UTR	p.E144K	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	7	506	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	144					A8K505	Missense_Mutation	SNP	ENST00000391857.4	37	c.430G>A	CCDS12768.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213679	0.79352	.	.	ENSG00000142541	ENST00000391857	.	.	.	5.7	5.7	0.88788	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.56381	0.1981	M	0.77616	2.38	0.80722	D	1	P;P	0.39094	0.659;0.457	B;B	0.28638	0.092;0.045	T	0.61182	-0.7114	8	.	.	.	.	17.3316	0.87265	0.0:0.0:1.0:0.0	.	144;144	Q5QTS3;P40429	.;RL13A_HUMAN	K	144	.	.	E	+	1	0	RPL13A	54686521	1.000000	0.71417	0.978000	0.43139	0.778000	0.44026	9.244000	0.95423	2.711000	0.92665	0.561000	0.74099	GAG		0.577	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258989.1			5	2	0	0	0	1	0	5	2				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	162	0	0	0	1	0	5	162				
CRACR2A	84766	broad.mit.edu	37	12	3805979	3805979	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:3805979C>A	ENST00000252322.1	-	4	655	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.D63Y|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.D63Y	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		63	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTTCAGCATCACAGGTCTGA	0.572																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(187-189)Gat>Tat		EF-hand calcium binding domain 4B							135.0	97.0	110.0					12																	3805979		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3805979C>A																												ENST00000252322.1:c.187G>T	12.37:g.3805979C>A	ENSP00000252322:p.Asp63Tyr					EFCAB4B_ENST00000252322.1_Missense_Mutation_p.D63Y|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.D63Y	p.D63Y	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		4	660	-			63			EF-hand 1.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.187G>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037839	0.75617	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;D;T	0.95885	-0.12;-3.84;-0.12	5.57	5.57	0.84162	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.97635	4.045	0.48395	D	0.999642	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.99470	1.0945	10	0.87932	D	0	-24.417	15.065	0.71986	0.0:1.0:0.0:0.0	.	63;63;63	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	Y	63	ENSP00000409382:D63Y;ENSP00000412496:D63Y;ENSP00000252322:D63Y	ENSP00000252322:D63Y	D	-	1	0	EFCAB4B	3676240	1.000000	0.71417	0.993000	0.49108	0.896000	0.52359	5.035000	0.64158	2.616000	0.88540	0.643000	0.83706	GAT		0.572	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			31	74	1	0	1.08312e-15	1	1.15648e-15	31	74				
A2ML1	144568	broad.mit.edu	37	12	9002841	9002841	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:9002841G>C	ENST00000299698.7	+	18	2385	c.2205G>C	c.(2203-2205)gaG>gaC	p.E735D	A2ML1_ENST00000539547.1_Missense_Mutation_p.E244D	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTCCCAGAGACCTGGCTCT	0.498																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(2203-2205)gaG>gaC		alpha-2-macroglobulin-like 1							112.0	104.0	106.0					12																	9002841		1853	4109	5962	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9002841G>C	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2205G>C	12.37:g.9002841G>C	ENSP00000299698:p.Glu735Asp					A2ML1_ENST00000539547.1_Missense_Mutation_p.E244D	p.E735D	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			18	2385	+			579						Missense_Mutation	SNP	ENST00000299698.7	37	c.2205G>C	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381899	0.61845	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.52057	0.68;0.85;1.36	3.48	1.55	0.23275	.	0.728956	0.12083	N	0.501149	T	0.51126	0.1656	L	0.52573	1.65	0.20638	N	0.999871	D	0.59357	0.985	P	0.58454	0.839	T	0.38286	-0.9668	10	0.72032	D	0.01	.	3.009	0.06038	0.2303:0.0:0.5535:0.2162	.	735	A8K2U0	A2ML1_HUMAN	D	735;735;285;244	ENSP00000299698:E735D;ENSP00000443174:E285D;ENSP00000438292:E244D	ENSP00000299698:E735D	E	+	3	2	A2ML1	8894108	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.248000	0.43160	0.437000	0.26423	0.456000	0.33151	GAG		0.498	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		51	139	0	0	0	1	0	51	139				
TBX22	50945	broad.mit.edu	37	X	79279589	79279589	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:79279589G>A	ENST00000373294.5	+	3	412	c.384G>A	c.(382-384)aaG>aaA	p.K128K	TBX22_ENST00000373296.3_Silent_p.K128K|TBX22_ENST00000373291.1_Silent_p.K8K|TBX22_ENST00000442340.1_Silent_p.K8K	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	128					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K128N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCGGGTCAAGGTGAAAGGGT	0.488																																						ENST00000442340.1																			1	Substitution - Missense(1)	p.K128N(1)	lung(1)	breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(22-24)aaG>aaA		T-box 22							157.0	125.0	136.0					X																	79279589		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79279589G>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.384G>A	X.37:g.79279589G>A						TBX22_ENST00000373291.1_Silent_p.K8K|TBX22_ENST00000373296.3_Silent_p.K128K|TBX22_ENST00000373294.5_Silent_p.K128K	p.K8K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			4	514	+			128					Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.24G>A	CCDS14445.1																																																																																				0.488	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		37	17	0	0	0	1	0	37	17				
HINFP	25988	broad.mit.edu	37	11	119003248	119003248	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:119003248C>T	ENST00000350777.2	+	6	782	c.719C>T	c.(718-720)aCa>aTa	p.T240I	HINFP_ENST00000527410.1_Missense_Mutation_p.T240I	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	240					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGATTTGCCACAGAGCGGCTA	0.577																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(718-720)aCa>aTa		histone H4 transcription factor							88.0	85.0	86.0					11																	119003248		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003248C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.719C>T	11.37:g.119003248C>T	ENSP00000318085:p.Thr240Ile					HINFP_ENST00000527410.1_Missense_Mutation_p.T240I	p.T240I	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			6	782	+			240					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.719C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106337	0.77096	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.79454	-1.27;-1.27	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	M	0.78285	2.405	0.58432	D	0.999999	D	0.76494	0.999	D	0.67548	0.952	D	0.87712	0.2567	10	0.49607	T	0.09	-10.0127	18.6818	0.91548	0.0:1.0:0.0:0.0	.	240	Q9BQA5	HINFP_HUMAN	I	240	ENSP00000318085:T240I;ENSP00000436815:T240I	ENSP00000318085:T240I	T	+	2	0	HINFP	118508458	1.000000	0.71417	0.968000	0.41197	0.982000	0.71751	7.088000	0.76901	2.665000	0.90641	0.655000	0.94253	ACA		0.577	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		30	25	0	0	0	1	0	30	25				
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	lincRNA	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							GTTCCTTGCTCAGGACACTCA	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211512C>A																													15.37:g.78211512C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	172	1	0	0.000602214	1	0.00060447	5	172				
DUSP22	56940	broad.mit.edu	37	6	348917	348917	+	Intron	SNP	C	C	G	rs201957282	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:348917C>G	ENST00000344450.5	+	7	951				DUSP22_ENST00000605315.1_Missense_Mutation_p.P92R|DUSP22_ENST00000419235.2_Missense_Mutation_p.P195R|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000604971.1_Missense_Mutation_p.P92R|DUSP22_ENST00000603453.1_Missense_Mutation_p.P92R	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCACTGGCTCCGCTGACCTAC	0.592																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(274-276)cCg>cGg		dual specificity phosphatase 22																																				SO:0001627	intron_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348917C>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.508+76C>G	6.37:g.348917C>G						DUSP22_ENST00000603453.1_Missense_Mutation_p.P92R|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.P195R|DUSP22_ENST00000605315.1_Missense_Mutation_p.P92R	p.P92R			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	1388	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	0			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.275C>G	CCDS4468.1																																																																																				0.592	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		6	26	0	0	0	1	0	6	26				
ZNF737	100129842	broad.mit.edu	37	19	20735341	20735341	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:20735341G>A	ENST00000427401.4	-	3	260	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Silent_p.L56L	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCTTGCTCCAGACAGGTGATG	0.383																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(166-168)Ctg>Ttg		zinc finger protein 737							133.0	106.0	114.0					19																	20735341		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20735341G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.166C>T	19.37:g.20735341G>A						ZNF737_ENST00000596797.1_Silent_p.L56L	p.L56L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			3	260	-			56					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.166C>T	CCDS54238.1																																																																																				0.383	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		26	40	0	0	0	1	0	26	40				
ENDOD1	23052	broad.mit.edu	37	11	94862036	94862036	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:94862036C>G	ENST00000278505.4	+	2	914	c.796C>G	c.(796-798)Cag>Gag	p.Q266E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	266						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCAGCTGTTTCAGAACAACTG	0.428																																						ENST00000278505.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11						c.(796-798)Cag>Gag		endonuclease domain containing 1							71.0	68.0	69.0					11																	94862036		1875	4104	5979	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862036C>G	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.796C>G	11.37:g.94862036C>G	ENSP00000278505:p.Gln266Glu						p.Q266E	NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN			2	914	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	266					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.796C>G	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247101	0.39697	.	.	ENSG00000149218	ENST00000278505	T	0.69685	-0.42	5.9	5.9	0.94986	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (1);	0.807850	0.11707	N	0.537314	T	0.61702	0.2368	M	0.62016	1.91	0.26950	N	0.966058	P	0.38280	0.625	B	0.34931	0.192	T	0.60515	-0.7248	10	0.48119	T	0.1	-17.2934	8.2136	0.31499	0.1974:0.725:0.0:0.0776	.	266	O94919	ENDD1_HUMAN	E	266	ENSP00000278505:Q266E	ENSP00000278505:Q266E	Q	+	1	0	ENDOD1	94501684	0.994000	0.37717	1.000000	0.80357	0.938000	0.57974	1.927000	0.40094	2.800000	0.96347	0.455000	0.32223	CAG		0.428	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		27	26	0	0	0	1	0	27	26				
ZFHX4	79776	broad.mit.edu	37	8	77618444	77618444	+	Silent	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:77618444T>C	ENST00000521891.2	+	2	2569	c.2121T>C	c.(2119-2121)tcT>tcC	p.S707S	ZFHX4_ENST00000455469.2_Silent_p.S707S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.S707S|ZFHX4_ENST00000050961.6_Silent_p.S707S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACTACTCTACCACTACCA	0.488										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2119-2121)tcT>tcC		zinc finger homeobox 4							63.0	66.0	65.0					8																	77618444		2198	4300	6498	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618444T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2121T>C	8.37:g.77618444T>C		HNSCC(33;0.089)				ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.S707S|ZFHX4_ENST00000050961.6_Silent_p.S707S|ZFHX4_ENST00000518282.1_Silent_p.S707S	p.S707S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2569	+			707					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.2121T>C	CCDS47878.2																																																																																				0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		32	55	0	0	0	1	0	32	55				
C15orf39	56905	broad.mit.edu	37	15	75499829	75499829	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:75499829C>T	ENST00000360639.2	+	2	1760	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	C15orf39_ENST00000567617.1_Silent_p.A480A|C15orf39_ENST00000394987.4_Silent_p.A480A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	480						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCCTGTGCCCGGGAGTGCC	0.637																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1438-1440)gcC>gcT		chromosome 15 open reading frame 39							45.0	50.0	48.0					15																	75499829		2197	4294	6491	SO:0001819	synonymous_variant	56905							g.chr15:75499829C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1440C>T	15.37:g.75499829C>T						C15orf39_ENST00000567617.1_Silent_p.A480A|C15orf39_ENST00000394987.4_Silent_p.A480A	p.A480A			Q6ZRI6	CO039_HUMAN			2	1760	+			480					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.1440C>T	CCDS10276.1																																																																																				0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		38	71	0	0	0	1	0	38	71				
ARHGAP31	57514	broad.mit.edu	37	3	119128590	119128590	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:119128590G>C	ENST00000264245.4	+	11	2425	c.1893G>C	c.(1891-1893)agG>agC	p.R631S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	631					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAGCCCCAGGGCCAGAGCCG	0.532																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1891-1893)agG>agC		Rho GTPase activating protein 31							18.0	22.0	20.0					3																	119128590		1991	4173	6164	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128590G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1893G>C	3.37:g.119128590G>C	ENSP00000264245:p.Arg631Ser						p.R631S	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			11	2425	+			631					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1893G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693105	0.48202	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06068	3.35	5.27	2.44	0.29823	.	0.558129	0.17135	N	0.185685	T	0.06188	0.0160	L	0.44542	1.39	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.29488	-1.0010	10	0.40728	T	0.16	.	7.7861	0.29093	0.2672:0.0:0.7328:0.0	.	631	Q2M1Z3	RHG31_HUMAN	S	631	ENSP00000264245:R631S	ENSP00000264245:R631S	R	+	3	2	ARHGAP31	120611280	0.001000	0.12720	0.001000	0.08648	0.513000	0.34164	0.211000	0.17474	0.780000	0.33566	0.563000	0.77884	AGG		0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			4	19	0	0	0	1	0	4	19				
UCP2	7351	broad.mit.edu	37	11	73688981	73688981	+	Missense_Mutation	SNP	C	C	T	rs576685655		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:73688981C>T	ENST00000310473.3	-	4	1129	c.287G>A	c.(286-288)cGc>cAc	p.R96H	UCP2_ENST00000536983.1_Missense_Mutation_p.R96H|UCP2_ENST00000542615.1_5'Flank	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	96					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CAGGCCGATGCGGACAGAGGC	0.562																																					Colon(191;388 2040 43557 45622 48925)	ENST00000310473.3																			0				large_intestine(1)|lung(3)|prostate(1)	5						c.(286-288)cGc>cAc		uncoupling protein 2 (mitochondrial, proton carrier)							79.0	77.0	78.0					11																	73688981		2200	4293	6493	SO:0001583	missense	7351				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73688981C>T	U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.287G>A	11.37:g.73688981C>T	ENSP00000312029:p.Arg96His					UCP2_ENST00000536983.1_Missense_Mutation_p.R96H	p.R96H	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN			4	1129	-	Breast(11;0.000112)		96					Q4PJH8|Q53HM3	Missense_Mutation	SNP	ENST00000310473.3	37	c.287G>A	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598420	0.96614	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	T;T;T	0.79653	-1.29;-1.29;-1.29	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93949	0.8063	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	D	0.95284	0.8389	10	0.87932	D	0	-14.1255	19.2077	0.93739	0.0:1.0:0.0:0.0	.	96;96	F5GX45;P55851	.;UCP2_HUMAN	H	96;96;69	ENSP00000312029:R96H;ENSP00000441147:R96H;ENSP00000439951:R69H	ENSP00000312029:R96H	R	-	2	0	UCP2	73366629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.884000	0.98904	0.655000	0.94253	CGC		0.562	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1	NM_003355		41	35	0	0	0	1	0	41	35				
AIM1L	55057	broad.mit.edu	37	1	26655236	26655236	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:26655236G>C	ENST00000308182.5	-	15	1737	c.1308C>G	c.(1306-1308)atC>atG	p.I436M	AIM1L_ENST00000527815.1_Missense_Mutation_p.I607M			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	436	Beta/gamma crystallin 'Greek key' 9. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCCCCCCTTGATCCGCACAG	0.612																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1819-1821)atC>atG		absent in melanoma 1-like							152.0	128.0	136.0					1																	26655236		2203	4300	6503	SO:0001583	missense	55057						sugar binding	g.chr1:26655236G>C			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1308C>G	1.37:g.26655236G>C	ENSP00000310435:p.Ile436Met					AIM1L_ENST00000308182.5_Missense_Mutation_p.I436M	p.I607M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	15	1870	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	436			Ricin B-type lectin.		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	ENST00000308182.5	37	c.1821C>G		.	.	.	.	.	.	.	.	.	.	G	17.68	3.450276	0.63290	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.78595	-1.19;-1.19	5.03	5.03	0.67393	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.139018	0.51477	D	0.000090	T	0.76997	0.4066	L	0.34521	1.04	0.80722	D	1	P	0.38335	0.627	P	0.49226	0.603	T	0.79174	-0.1912	10	0.87932	D	0	.	13.1669	0.59575	0.0:0.0:0.8404:0.1596	.	436	Q8N1P7	AIM1L_HUMAN	M	607;436	ENSP00000433931:I607M;ENSP00000310435:I436M	ENSP00000310435:I436M	I	-	3	3	AIM1L	26527823	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	3.516000	0.53436	2.607000	0.88179	0.561000	0.74099	ATC		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		50	97	0	0	0	1	0	50	97				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	65	0	0	0	1	0	3	65				
LCA5L	150082	broad.mit.edu	37	21	40795314	40795314	+	Missense_Mutation	SNP	C	C	G	rs141252242		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr21:40795314C>G	ENST00000358268.2	-	5	953	c.425G>C	c.(424-426)cGa>cCa	p.R142P	LCA5L_ENST00000380671.2_Missense_Mutation_p.R142P|LCA5L_ENST00000485895.2_Missense_Mutation_p.R142P|LCA5L_ENST00000288350.3_Missense_Mutation_p.R142P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	142										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGAGAGTATTCGATGAGCCAT	0.348																																						ENST00000358268.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(424-426)cGa>cCa		Leber congenital amaurosis 5-like							69.0	72.0	71.0					21																	40795314		2203	4298	6501	SO:0001583	missense	150082							g.chr21:40795314C>G	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.425G>C	21.37:g.40795314C>G	ENSP00000351008:p.Arg142Pro					LCA5L_ENST00000485895.2_Missense_Mutation_p.R142P|LCA5L_ENST00000288350.3_Missense_Mutation_p.R142P|LCA5L_ENST00000380671.2_Missense_Mutation_p.R142P	p.R142P			O95447	LCA5L_HUMAN			5	953	-		Prostate(19;1.2e-06)	142					D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	c.425G>C	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.335826	0.60853	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000020	D	0.90428	0.7003	M	0.79475	2.455	0.25470	N	0.987835	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84135	0.0414	10	0.72032	D	0.01	-16.1044	13.8863	0.63710	0.0:0.924:0.0:0.076	.	142;142	C9JFB6;O95447	.;LCA5L_HUMAN	P	142	ENSP00000288350:R142P;ENSP00000370046:R142P;ENSP00000351008:R142P;ENSP00000404521:R142P	ENSP00000288350:R142P	R	-	2	0	LCA5L	39717184	0.953000	0.32496	0.295000	0.24960	0.991000	0.79684	2.255000	0.43222	2.445000	0.82738	0.655000	0.94253	CGA		0.348	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2	NM_152505		27	46	0	0	0	1	0	27	46				
NLRP4	147945	broad.mit.edu	37	19	56369063	56369063	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:56369063C>G	ENST00000301295.6	+	3	726	c.304C>G	c.(304-306)Cac>Gac	p.H102D	NLRP4_ENST00000346986.5_Missense_Mutation_p.H102D|NLRP4_ENST00000587891.1_Missense_Mutation_p.H27D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	102					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTATCAAGCTCACGCAAAGCA	0.428																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(304-306)Cac>Gac		NLR family, pyrin domain containing 4							94.0	89.0	91.0					19																	56369063		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369063C>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.304C>G	19.37:g.56369063C>G	ENSP00000301295:p.His102Asp					NLRP4_ENST00000587891.1_Missense_Mutation_p.H27D|NLRP4_ENST00000346986.5_Missense_Mutation_p.H102D	p.H102D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	726	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	102					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.304C>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202757	0.38905	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.74526	-0.85;-0.81	3.62	2.59	0.31030	DEATH-like (1);	.	.	.	.	T	0.74650	0.3744	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.973	T	0.60652	-0.7221	9	0.44086	T	0.13	.	7.1277	0.25482	0.0:0.8769:0.0:0.1231	.	27;102	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	D	102	ENSP00000301295:H102D;ENSP00000344787:H102D	ENSP00000301295:H102D	H	+	1	0	NLRP4	61060875	0.015000	0.18098	0.012000	0.15200	0.001000	0.01503	1.700000	0.37815	1.100000	0.41517	-0.140000	0.14226	CAC		0.428	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		22	36	0	0	0	1	0	22	36				
HIP1R	9026	broad.mit.edu	37	12	123342671	123342671	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:123342671G>A	ENST00000253083.4	+	19	1963	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	613					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGGGGCTGCGGCAGAGGCTG	0.657																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1837-1839)cGg>cAg		huntingtin interacting protein 1 related							42.0	47.0	45.0					12																	123342671		2199	4291	6490	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123342671G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1838G>A	12.37:g.123342671G>A	ENSP00000253083:p.Arg613Gln						p.R613Q	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	19	1963	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		613					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.1838G>A	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	3.096	-0.185804	0.06340	.	.	ENSG00000130787	ENST00000253083	T	0.13538	2.58	5.42	-2.58	0.06228	.	1.131160	0.06361	N	0.711611	T	0.05410	0.0143	N	0.01729	-0.75	0.27502	N	0.951969	B	0.02656	0.0	B	0.01281	0.0	T	0.45411	-0.9263	10	0.12766	T	0.61	-10.6694	13.9089	0.63855	0.856:0.0:0.144:0.0	.	613	O75146	HIP1R_HUMAN	Q	613	ENSP00000253083:R613Q	ENSP00000253083:R613Q	R	+	2	0	HIP1R	121908624	0.919000	0.31177	0.044000	0.18714	0.196000	0.23810	0.331000	0.19733	-0.742000	0.04790	0.561000	0.74099	CGG		0.657	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		49	81	0	0	0	1	0	49	81				
YEATS2	55689	broad.mit.edu	37	3	183479328	183479328	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:183479328C>G	ENST00000305135.5	+	14	1885	c.1690C>G	c.(1690-1692)Ctt>Gtt	p.L564V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	564					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATGCCACCTCTTTGCCCAAT	0.413																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1690-1692)Ctt>Gtt		YEATS domain containing 2							167.0	160.0	162.0					3																	183479328		1866	4083	5949	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479328C>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1690C>G	3.37:g.183479328C>G	ENSP00000306983:p.Leu564Val						p.L564V	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1885	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		564					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1690C>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935450	0.73442	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.27890	1.64	6.03	5.16	0.70880	.	0.314616	0.28431	N	0.015372	T	0.27169	0.0666	L	0.27053	0.805	0.34786	D	0.735216	P	0.50443	0.935	P	0.45753	0.492	T	0.29549	-1.0008	10	0.25751	T	0.34	-22.4639	15.3849	0.74691	0.0:0.9336:0.0:0.0664	.	564	Q9ULM3	YETS2_HUMAN	V	564	ENSP00000306983:L564V	ENSP00000306983:L564V	L	+	1	0	YEATS2	184962022	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.647000	0.67923	1.561000	0.49584	0.655000	0.94253	CTT		0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		47	165	0	0	0	1	0	47	165				
NPHP1	4867	broad.mit.edu	37	2	110905498	110905498	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:110905498G>A	ENST00000393272.3	-	13	1526	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	NPHP1_ENST00000355301.4_Missense_Mutation_p.R359C|NPHP1_ENST00000316534.4_Missense_Mutation_p.R478C|NPHP1_ENST00000445609.2_Missense_Mutation_p.R422C|NPHP1_ENST00000417665.1_Missense_Mutation_p.R421C	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	477					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATACATTGCGAATATAAGAA	0.338																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(1432-1434)Cgc>Tgc		nephronophthisis 1 (juvenile)							69.0	72.0	71.0					2																	110905498		2203	4299	6502	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110905498G>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1429C>T	2.37:g.110905498G>A	ENSP00000376953:p.Arg477Cys					NPHP1_ENST00000417665.1_Missense_Mutation_p.R421C|NPHP1_ENST00000445609.2_Missense_Mutation_p.R422C|NPHP1_ENST00000393272.3_Missense_Mutation_p.R477C|NPHP1_ENST00000355301.4_Missense_Mutation_p.R359C	p.R478C			O15259	NPHP1_HUMAN			13	1505	-			477					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.1432C>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874604	0.51695	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.67698	-0.27;-0.26;-0.28;-0.21;-0.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.72118	2.19	0.80722	D	1	B;B;B;B;P;B	0.35208	0.358;0.11;0.094;0.065;0.49;0.085	B;B;B;B;B;B	0.28139	0.064;0.024;0.005;0.022;0.086;0.03	T	0.69157	-0.5219	10	0.56958	D	0.05	-13.5119	17.1875	0.86870	0.0:0.0:1.0:0.0	.	421;421;359;477;422;478	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	C	478;422;477;359;421	ENSP00000313169:R478C;ENSP00000389879:R422C;ENSP00000376953:R477C;ENSP00000347452:R359C;ENSP00000402176:R421C	ENSP00000313169:R478C	R	-	1	0	NPHP1	110262787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.527000	0.53517	2.665000	0.90641	0.655000	0.94253	CGC		0.338	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		20	44	0	0	0	1	0	20	44				
HDLBP	3069	broad.mit.edu	37	2	242176088	242176088	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:242176088T>A	ENST00000391975.1	-	21	3073	c.2846A>T	c.(2845-2847)gAc>gTc	p.D949V	HDLBP_ENST00000391976.2_Missense_Mutation_p.D949V|HDLBP_ENST00000427183.2_Missense_Mutation_p.D916V|HDLBP_ENST00000310931.4_Missense_Mutation_p.D949V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	949	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATGATGATGTCACACCTCCT	0.577																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2845-2847)gAc>gTc		high density lipoprotein binding protein							136.0	120.0	125.0					2																	242176088		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242176088T>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2846A>T	2.37:g.242176088T>A	ENSP00000375836:p.Asp949Val					HDLBP_ENST00000310931.4_Missense_Mutation_p.D949V|HDLBP_ENST00000427183.2_Missense_Mutation_p.D916V|HDLBP_ENST00000391976.2_Missense_Mutation_p.D949V	p.D949V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	21	3073	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	949			KH 11.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2846A>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.8|26.8	4.770304|4.770304	0.90108|0.90108	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.34072|.	1.38;1.38;1.38;1.38|.	5.69|5.69	5.69|5.69	0.88448|0.88448	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78451|.	0.4285|.	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.975;1.0|.	D;D|.	0.91635|.	0.951;0.999|.	T|.	0.80417|.	-0.1391|.	10|.	0.87932|.	D|.	0|.	-39.0061|-39.0061	15.9447|15.9447	0.79784|0.79784	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	916;949|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	V|C	949;949;949;916|757	ENSP00000375836:D949V;ENSP00000375837:D949V;ENSP00000312042:D949V;ENSP00000399139:D916V|.	ENSP00000312042:D949V|.	D|X	-|-	2|3	0|0	HDLBP|HDLBP	241824761|241824761	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.945000|0.945000	0.59286|0.59286	7.573000|7.573000	0.82421|0.82421	2.162000|2.162000	0.67917|0.67917	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.577	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		37	70	0	0	0	1	0	37	70				
TRIM51	84767	broad.mit.edu	37	11	55653650	55653650	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:55653650C>G	ENST00000449290.2	+	3	555	c.463C>G	c.(463-465)Ctc>Gtc	p.L155V	TRIM51_ENST00000244891.3_Missense_Mutation_p.L12V	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	155						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTGTGAAAATCTCAGAAATCT	0.413																																						ENST00000449290.2																			0											c.(463-465)Ctc>Gtc		tripartite motif-containing 51							77.0	78.0	78.0					11																	55653650		2201	4296	6497	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653650C>G	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.463C>G	11.37:g.55653650C>G	ENSP00000395086:p.Leu155Val					TRIM51_ENST00000244891.3_Missense_Mutation_p.L12V	p.L155V	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			3	555	+			155					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.463C>G		.	.	.	.	.	.	.	.	.	.	.	2.448	-0.327043	0.05350	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.04654	3.58;3.58	.	.	.	.	.	.	.	.	T	0.03434	0.0099	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44034	-0.9354	7	0.30854	T	0.27	.	.	.	.	.	155	Q9BSJ1	SPRY5_HUMAN	V	155;12	ENSP00000395086:L155V;ENSP00000244891:L12V	ENSP00000244891:L12V	L	+	1	0	SPRYD5	55410226	0.002000	0.14202	0.020000	0.16555	0.094000	0.18550	-0.712000	0.05013	0.495000	0.27882	0.152000	0.16155	CTC		0.413	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	54	0	0	0	1	0	5	54				
KIF26B	55083	broad.mit.edu	37	1	245582994	245582994	+	Silent	SNP	C	C	T	rs373998722		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:245582994C>T	ENST00000407071.2	+	4	1553	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	371					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGGCTCCTGCGTGGCCAGCG	0.592																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1111-1113)tgC>tgT		kinesin family member 26B		C		0,3984		0,0,1992	84.0	87.0	86.0		1113	-2.8	0.3	1		86	1,8327		0,1,4163	no	coding-synonymous	KIF26B	NM_018012.3		0,1,6155	TT,TC,CC		0.012,0.0,0.0081		371/2109	245582994	1,12311	1992	4164	6156	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245582994C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1113C>T	1.37:g.245582994C>T							p.C371C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		4	1553	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		371					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1113C>T	CCDS44342.1																																																																																				0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		29	76	0	0	0	1	0	29	76				
WDR81	124997	broad.mit.edu	37	17	1634161	1634161	+	Silent	SNP	C	C	T	rs145262105		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:1634161C>T	ENST00000409644.1	+	3	3888	c.3888C>T	c.(3886-3888)ctC>ctT	p.L1296L	WDR81_ENST00000419248.1_Silent_p.L69L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'UTR|WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000309182.5_Silent_p.L245L|WDR81_ENST00000437219.2_Silent_p.L93L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1296					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCTGTGCTCAGCTGCCTCC	0.632																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3886-3888)ctC>ctT		WD repeat domain 81		C	,,,	0,4406		0,0,2203	66.0	65.0	65.0		279,3888,207,735	2.5	1.0	17	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	WDR81	NM_001163673.1,NM_001163809.1,NM_001163811.1,NM_152348.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	93/739,1296/1942,69/715,245/891	1634161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124997							g.chr17:1634161C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3888C>T	17.37:g.1634161C>T						WDR81_ENST00000446363.1_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.L69L|WDR81_ENST00000309182.5_Silent_p.L245L|WDR81_ENST00000437219.2_Silent_p.L93L|WDR81_ENST00000545662.1_5'UTR	p.L1296L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	3	3888	+			69					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.3888C>T	CCDS54062.1																																																																																				0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		39	63	0	0	0	1	0	39	63				
ENOPH1	58478	broad.mit.edu	37	4	83369157	83369157	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:83369157A>C	ENST00000273920.3	+	2	437	c.169A>C	c.(169-171)Agt>Cgt	p.S57R	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCAGGATGTCAGTCTTTTGAG	0.398																																						ENST00000273920.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						c.(169-171)Agt>Cgt		enolase-phosphatase 1							87.0	82.0	84.0					4																	83369157		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83369157A>C		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.169A>C	4.37:g.83369157A>C	ENSP00000273920:p.Ser57Arg					ENOPH1_ENST00000509635.1_5'UTR	p.S57R	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN			2	437	+			57						Missense_Mutation	SNP	ENST00000273920.3	37	c.169A>C	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	a	2.965	-0.213843	0.06140	.	.	ENSG00000145293	ENST00000273920;ENST00000456931	.	.	.	5.39	0.0519	0.14300	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.770328	0.13623	N	0.374305	T	0.16428	0.0395	N	0.16266	0.395	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.22068	-1.0227	9	0.18276	T	0.48	0.0015	3.1248	0.06403	0.479:0.0:0.228:0.293	.	57	Q9UHY7	ENOPH_HUMAN	R	57	.	ENSP00000273920:S57R	S	+	1	0	ENOPH1	83588181	0.184000	0.23200	0.431000	0.26735	0.254000	0.26022	2.201000	0.42734	0.081000	0.16988	-0.352000	0.07741	AGT		0.398	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		23	22	0	0	0	1	0	23	22				
TRIO	7204	broad.mit.edu	37	5	14480078	14480078	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:14480078C>G	ENST00000344204.4	+	43	6318	c.6294C>G	c.(6292-6294)atC>atG	p.I2098M	TRIO_ENST00000537187.1_Missense_Mutation_p.I2098M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2098	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCTGTTGATCAAACCAGTGC	0.453																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6292-6294)atC>atG		trio Rho guanine nucleotide exchange factor							89.0	79.0	82.0					5																	14480078		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14480078C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6294C>G	5.37:g.14480078C>G	ENSP00000339299:p.Ile2098Met					TRIO_ENST00000537187.1_Missense_Mutation_p.I2098M	p.I2098M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			43	6318	+	Lung NSC(4;0.000742)		2098			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6294C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932201	0.52866	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.67698	-0.28;-0.28	5.9	1.73	0.24493	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	M	0.84082	2.675	0.51482	D	0.999925	D;D	0.76494	0.997;0.999	D;D	0.87578	0.928;0.998	T	0.74203	-0.3741	10	0.72032	D	0.01	.	4.8398	0.13485	0.4111:0.3161:0.0:0.2728	.	2098;2098	O75962-5;O75962	.;TRIO_HUMAN	M	2098;2098;1785;178	ENSP00000339299:I2098M;ENSP00000446348:I2098M	ENSP00000339299:I2098M	I	+	3	3	TRIO	14533078	1.000000	0.71417	0.973000	0.42090	0.855000	0.48748	1.193000	0.32162	0.069000	0.16605	-0.251000	0.11542	ATC		0.453	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		22	25	0	0	0	1	0	22	25				
DZIP1L	199221	broad.mit.edu	37	3	137781805	137781805	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:137781805C>G	ENST00000327532.2	-	16	2519	c.2157G>C	c.(2155-2157)gaG>gaC	p.E719D		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	719					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.E719D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCAAGTCACTCTCATCTTCAG	0.507																																						ENST00000327532.2																			1	Substitution - Missense(1)	p.E719D(1)	lung(1)	breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						c.(2155-2157)gaG>gaC		DAZ interacting zinc finger protein 1-like							64.0	66.0	65.0					3																	137781805		2203	4300	6503	SO:0001583	missense	199221					intracellular	zinc ion binding	g.chr3:137781805C>G	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2157G>C	3.37:g.137781805C>G	ENSP00000332148:p.Glu719Asp						p.E719D	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN			16	2519	-			719					C9JUG5|Q96M38	Missense_Mutation	SNP	ENST00000327532.2	37	c.2157G>C	CCDS3096.1	.	.	.	.	.	.	.	.	.	.	C	5.211	0.224434	0.09863	.	.	ENSG00000158163	ENST00000327532	T	0.10960	2.82	4.8	-5.26	0.02772	.	0.334781	0.24213	N	0.040502	T	0.06234	0.0161	L	0.43152	1.355	0.80722	D	1	B	0.17852	0.024	B	0.15052	0.012	T	0.25363	-1.0134	10	0.25751	T	0.34	-8.6139	4.8936	0.13738	0.112:0.1833:0.5282:0.1764	.	719	Q8IYY4	DZI1L_HUMAN	D	719	ENSP00000332148:E719D	ENSP00000332148:E719D	E	-	3	2	DZIP1L	139264495	0.898000	0.30612	0.976000	0.42696	0.039000	0.13416	-0.698000	0.05092	-0.553000	0.06158	-0.344000	0.07964	GAG		0.507	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		21	84	0	0	0	1	0	21	84				
GRK7	131890	broad.mit.edu	37	3	141499603	141499603	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:141499603G>A	ENST00000264952.2	+	2	1137	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGGTTATCTGACCTGGGGCT	0.587																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1000-1002)Gac>Aac		G protein-coupled receptor kinase 7							60.0	52.0	54.0					3																	141499603		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499603G>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1000G>A	3.37:g.141499603G>A	ENSP00000264952:p.Asp334Asn						p.D334N	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			2	1137	+			334			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1000G>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581691	0.86748	.	.	ENSG00000114124	ENST00000264952	D	0.92965	-3.14	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	H	0.97491	4.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99585	1.0974	10	0.87932	D	0	-25.0917	17.9964	0.89185	0.0:0.0:1.0:0.0	.	334	Q8WTQ7	GRK7_HUMAN	N	334	ENSP00000264952:D334N	ENSP00000264952:D334N	D	+	1	0	GRK7	142982293	1.000000	0.71417	0.471000	0.27229	0.680000	0.39746	9.327000	0.96396	2.223000	0.72356	0.655000	0.94253	GAC		0.587	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		12	50	0	0	0	1	0	12	50				
EPHA7	2045	broad.mit.edu	37	6	94120820	94120820	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:94120820C>A	ENST00000369303.4	-	3	415	c.231G>T	c.(229-231)atG>atT	p.M77I	EPHA7_ENST00000369297.1_Missense_Mutation_p.M77I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	77	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTTGGGCTCCATGACTTGGC	0.413																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(229-231)atG>atT		EPH receptor A7							110.0	115.0	113.0					6																	94120820		2202	4299	6501	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120820C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.231G>T	6.37:g.94120820C>A	ENSP00000358309:p.Met77Ile					EPHA7_ENST00000369297.1_Missense_Mutation_p.M77I	p.M77I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	415	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	77					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.231G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599525	0.66332	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.09538	2.97;2.97	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.038553	0.85682	D	0.000000	T	0.13415	0.0325	M	0.84326	2.69	0.80722	D	1	B;B;B;B	0.21071	0.015;0.051;0.019;0.024	B;B;B;B	0.23574	0.004;0.02;0.03;0.047	T	0.01884	-1.1254	10	0.66056	D	0.02	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	77;77;77;77	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	I	77	ENSP00000358309:M77I;ENSP00000358303:M77I	ENSP00000358303:M77I	M	-	3	0	EPHA7	94177541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	ATG		0.413	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			31	61	1	0	6.00712e-18	1	6.49157e-18	31	61				
FBXO39	162517	broad.mit.edu	37	17	6683709	6683709	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6683709G>A	ENST00000321535.4	+	2	652	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	174										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GGGCCAGGCTGACCGTGGAGC	0.498																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(520-522)ctG>ctA		F-box protein 39							60.0	58.0	59.0					17																	6683709		2203	4300	6503	SO:0001819	synonymous_variant	162517							g.chr17:6683709G>A	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.522G>A	17.37:g.6683709G>A							p.L174L	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	652	+			174						Silent	SNP	ENST00000321535.4	37	c.522G>A	CCDS11082.1																																																																																				0.498	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		36	47	0	0	0	1	0	36	47				
RDH12	145226	broad.mit.edu	37	14	68193774	68193774	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:68193774G>A	ENST00000551171.1	+	7	849	c.525G>A	c.(523-525)tcG>tcA	p.S175S	RDH12_ENST00000539142.1_Silent_p.S175S|RDH12_ENST00000267502.3_Silent_p.S175S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	175			S -> P (in LCA13). {ECO:0000269|PubMed:15322982}.		photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	ATGTGTCCTCGGTGGCTCACC	0.592																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(523-525)tcG>tcA		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						98.0	81.0	87.0					14																	68193774		2203	4300	6503	SO:0001819	synonymous_variant	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68193774G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.525G>A	14.37:g.68193774G>A						RDH12_ENST00000539142.1_Silent_p.S175S|RDH12_ENST00000267502.3_Silent_p.S175S	p.S175S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	7	849	+			175		S -> P (in LCA13).			B2RDA2|Q8TAW6	Silent	SNP	ENST00000551171.1	37	c.525G>A	CCDS9787.1																																																																																				0.592	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			24	51	0	0	0	1	0	24	51				
CYFIP1	23191	broad.mit.edu	37	15	22956372	22956372	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:22956372G>C	ENST00000435939.2	+	1	618	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGGCTTTTTGAGTTTGGCAT	0.542																																						ENST00000435939.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(316-318)Gag>Cag		cytoplasmic FMR1 interacting protein 1							52.0	58.0	56.0					15																	22956372		1327	2309	3636	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22956372G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000435939.2:c.316G>C	15.37:g.22956372G>C	ENSP00000405956:p.Glu106Gln					CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	p.E106Q	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	1	618	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	0						Missense_Mutation	SNP	ENST00000435939.2	37	c.316G>C	CCDS45189.1	.	.	.	.	.	.	.	.	.	.	G	6.912	0.537811	0.13188	.	.	ENSG00000068793	ENST00000435939	T	0.35421	1.31	4.96	0.576	0.17380	.	.	.	.	.	T	0.18173	0.0436	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21827	-1.0234	8	0.26408	T	0.33	.	2.1898	0.03896	0.1829:0.2484:0.4423:0.1263	.	106	Q7L576-2	.	Q	106	ENSP00000405956:E106Q	ENSP00000405956:E106Q	E	+	1	0	CYFIP1	20507813	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.316000	0.08071	0.214000	0.20742	0.563000	0.77884	GAG		0.542	CYFIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415634.1	NM_014608		17	27	0	0	0	1	0	17	27				
USP33	23032	broad.mit.edu	37	1	78183706	78183706	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:78183706G>A	ENST00000370793.1	-	18	2203	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	USP33_ENST00000370794.3_Silent_p.F588F|USP33_ENST00000370792.3_Silent_p.F611F|USP33_ENST00000357428.1_Silent_p.F619F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	619	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTTCATGTCTGAATCTTTTAA	0.333																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1855-1857)ttC>ttT		ubiquitin specific peptidase 33							85.0	91.0	89.0					1																	78183706		2203	4300	6503	SO:0001819	synonymous_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78183706G>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1857C>T	1.37:g.78183706G>A						USP33_ENST00000370792.3_Silent_p.F611F|USP33_ENST00000370794.3_Silent_p.F588F|USP33_ENST00000357428.1_Silent_p.F619F	p.F619F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			18	2203	-			619					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	c.1857C>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	G	9.066	0.995779	0.19043	.	.	ENSG00000077254	ENST00000481579	.	.	.	4.7	3.78	0.43462	.	.	.	.	.	T	0.42743	0.1216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39078	-0.9631	4	.	.	.	.	7.4117	0.27021	0.2913:0.0:0.7086:0.0	.	.	.	.	L	224	.	.	S	-	2	0	USP33	77956294	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.573000	0.36472	1.100000	0.41517	0.563000	0.77884	TCA		0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		25	56	0	0	0	1	0	25	56				
LRP2	4036	broad.mit.edu	37	2	170150718	170150718	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:170150718G>A	ENST00000263816.3	-	6	877	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	LRP2_ENST00000443831.1_Missense_Mutation_p.R198C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	198	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACATAAGCACGAGGGATACAC	0.443																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(592-594)Cgt>Tgt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						173.0	145.0	154.0					2																	170150718		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170150718G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.592C>T	2.37:g.170150718G>A	ENSP00000263816:p.Arg198Cys					LRP2_ENST00000443831.1_Missense_Mutation_p.R198C	p.R198C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	6	877	-			198			LDL-receptor class A 5.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.592C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329844	0.60743	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95690	-3.78;-3.78	5.58	0.425	0.16473	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.498090	0.21331	N	0.076297	D	0.96691	0.8920	M	0.86420	2.815	0.24527	N	0.994132	D;D	0.61697	0.99;0.99	P;P	0.56042	0.66;0.79	D	0.92671	0.6150	9	.	.	.	.	11.9844	0.53138	0.0:0.102:0.4168:0.4812	.	198;198	E9PC35;P98164	.;LRP2_HUMAN	C	198	ENSP00000263816:R198C;ENSP00000409813:R198C	.	R	-	1	0	LRP2	169858964	0.590000	0.26815	0.000000	0.03702	0.007000	0.05969	2.982000	0.49337	-0.136000	0.11475	-0.262000	0.10625	CGT		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		45	65	0	0	0	1	0	45	65				
KANK1	23189	broad.mit.edu	37	9	738504	738504	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:738504G>A	ENST00000382303.1	+	12	4205	c.3553G>A	c.(3553-3555)Gat>Aat	p.D1185N	KANK1_ENST00000382297.2_Splice_Site_p.D1185N|KANK1_ENST00000382293.3_Splice_Site_p.D1027N|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1185	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTTAGATGCCGGTATGTTGGC	0.522																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.e12+1		KN motif and ankyrin repeat domains 1							100.0	76.0	84.0					9																	738504		2203	4300	6503	SO:0001630	splice_region_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:738504G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3553+1G>A	9.37:g.738504G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Splice_Site_p.D1185_splice|KANK1_ENST00000382293.3_Splice_Site_p.D1027_splice	p.D1185_splice	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	12	4205	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1185					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Splice_Site	SNP	ENST00000382303.1	37	c.3553_splice	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293675	0.80914	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.52057	0.68;0.68;0.68	5.37	5.37	0.77165	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000049	T	0.25419	0.0618	N	0.03154	-0.405	0.80722	D	1	B;B;B	0.29037	0.009;0.009;0.231	B;B;B	0.29524	0.018;0.012;0.103	T	0.14309	-1.0477	10	0.52906	T	0.07	-11.1474	10.6626	0.45710	0.1177:0.0:0.8823:0.0	.	231;97;1185	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	N	1185;231;1185;1027;163;97	ENSP00000371740:D1185N;ENSP00000371734:D1185N;ENSP00000371730:D1027N	ENSP00000371723:D97N	D	+	1	0	KANK1	728504	1.000000	0.71417	0.454000	0.27019	0.666000	0.39218	4.492000	0.60334	2.680000	0.91292	0.563000	0.77884	GAT		0.522	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	Missense_Mutation	19	9	0	0	0	1	0	19	9				
WISP1	8840	broad.mit.edu	37	8	134237784	134237784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:134237784C>A	ENST00000250160.6	+	4	868	c.762C>A	c.(760-762)tgC>tgA	p.C254*	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Nonsense_Mutation_p.C167*|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Nonsense_Mutation_p.C82*	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	254	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCCGCCTCTGCAACTTGCGGC	0.572																																						ENST00000250160.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(760-762)tgC>tgA		WNT1 inducible signaling pathway protein 1							51.0	54.0	53.0					8																	134237784		2203	4300	6503	SO:0001587	stop_gained	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134237784C>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.762C>A	8.37:g.134237784C>A	ENSP00000250160:p.Cys254*					WISP1_ENST00000220856.6_Nonsense_Mutation_p.C167*|WISP1_ENST00000377863.2_Nonsense_Mutation_p.C82*|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	p.C254*	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		4	868	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		254			TSP type-1.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Nonsense_Mutation	SNP	ENST00000250160.6	37	c.762C>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922608	0.73213	.	.	ENSG00000104415	ENST00000250160;ENST00000377863;ENST00000220856	.	.	.	5.9	2.07	0.26955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.951	5.4589	0.16606	0.1363:0.604:0.0:0.2596	.	.	.	.	X	254;82;167	.	ENSP00000220856:C167X	C	+	3	2	WISP1	134306966	0.998000	0.40836	0.997000	0.53966	0.771000	0.43674	0.638000	0.24674	0.826000	0.34661	-0.195000	0.12781	TGC		0.572	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		26	78	1	0	2.65835e-16	1	2.84975e-16	26	78				
SCGN	10590	broad.mit.edu	37	6	25653629	25653629	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:25653629G>C	ENST00000377961.2	+	2	270	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	34	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACATAGAAGAGAAGGAACTCG	0.299																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(100-102)gaG>gaC		secretagogin, EF-hand calcium binding protein							103.0	97.0	99.0					6																	25653629		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25653629G>C	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.102G>C	6.37:g.25653629G>C	ENSP00000367197:p.Glu34Asp					SCGN_ENST00000334979.6_Intron	p.E34D	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			2	270	+			34			EF-hand 1.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.102G>C	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581298	0.46006	.	.	ENSG00000079689	ENST00000377961	T	0.09538	2.97	5.25	3.35	0.38373	EF-hand-like domain (1);	0.045522	0.85682	D	0.000000	T	0.03959	0.0111	L	0.51422	1.61	0.80722	D	1	P	0.35174	0.488	B	0.32211	0.142	T	0.23976	-1.0173	10	0.52906	T	0.07	.	6.3608	0.21427	0.0984:0.1866:0.715:0.0	.	34	O76038	SEGN_HUMAN	D	34	ENSP00000367197:E34D	ENSP00000367197:E34D	E	+	3	2	SCGN	25761608	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.505000	0.22642	1.191000	0.43056	0.655000	0.94253	GAG		0.299	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			11	22	0	0	0	1	0	11	22				
C3AR1	719	broad.mit.edu	37	12	8212138	8212138	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:8212138G>C	ENST00000307637.4	-	2	847	c.644C>G	c.(643-645)tCt>tGt	p.S215C		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	215					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGTTTGGAAAGAGGAAGGATC	0.428																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(643-645)tCt>tGt		complement component 3a receptor 1							82.0	82.0	82.0					12																	8212138		2203	4299	6502	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212138G>C	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.644C>G	12.37:g.8212138G>C	ENSP00000302079:p.Ser215Cys						p.S215C	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	847	-			215					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.644C>G	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314542	0.40996	.	.	ENSG00000171860	ENST00000307637	T	0.74106	-0.81	5.15	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	2.015560	0.02581	N	0.098858	T	0.81336	0.4801	L	0.36672	1.1	0.36727	D	0.881481	D	0.76494	0.999	D	0.64595	0.927	T	0.66893	-0.5808	10	0.59425	D	0.04	.	9.624	0.39739	0.0966:0.0:0.9034:0.0	.	215	Q16581	C3AR_HUMAN	C	215	ENSP00000302079:S215C	ENSP00000302079:S215C	S	-	2	0	C3AR1	8103405	0.003000	0.15002	0.957000	0.39632	0.116000	0.19942	0.956000	0.29202	1.301000	0.44836	0.655000	0.94253	TCT		0.428	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			34	136	0	0	0	1	0	34	136				
PCDHB8	56128	broad.mit.edu	37	5	140558387	140558387	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:140558387A>G	ENST00000239444.2	+	1	1017	c.772A>G	c.(772-774)Ata>Gta	p.I258V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAGTCCAATAAGCTTCCT	0.458																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(772-774)Ata>Gta									208.0	277.0	254.0					5																	140558387		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558387A>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.772A>G	5.37:g.140558387A>G	ENSP00000239444:p.Ile258Val						p.I258V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1017	+			258			Cadherin 3.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.772A>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.773825	0.00080	.	.	ENSG00000120322	ENST00000239444	T	0.49432	0.78	4.25	0.493	0.16878	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17746	0.0426	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28427	-1.0044	9	0.02654	T	1	.	8.1854	0.31335	0.5598:0.0:0.4402:0.0	.	258	Q9UN66	PCDB8_HUMAN	V	258	ENSP00000239444:I258V	ENSP00000239444:I258V	I	+	1	0	PCDHB8	140538571	0.000000	0.05858	0.025000	0.17156	0.397000	0.30659	-4.938000	0.00168	0.077000	0.16863	-0.359000	0.07587	ATA		0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		59	478	0	0	0	1	0	59	478				
HADH	3033	broad.mit.edu	37	4	108954379	108954379	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:108954379G>T	ENST00000309522.3	+	7	906	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.G329C|HADH_ENST00000603302.1_Missense_Mutation_p.G270C|HADH_ENST00000505878.1_Missense_Mutation_p.G257C|HADH_ENST00000454409.2_Missense_Mutation_p.G257C	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	579					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ATTAGGAGCCGGTTACCCCAT	0.453																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(769-771)Ggt>Tgt		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						149.0	141.0	144.0					4																	108954379		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108954379G>T	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.757G>T	4.37:g.108954379G>T	ENSP00000312288:p.Gly253Cys					HADH_ENST00000454409.2_Missense_Mutation_p.G257C|HADH_ENST00000309522.3_Missense_Mutation_p.G253C|HADH_ENST00000603302.1_Missense_Mutation_p.G270C|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.G329C	p.G257C			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	8	1042	+		Hepatocellular(203;0.217)	253					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.769G>T	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937407	0.92458	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.98192	-4.78;-4.78;-4.78	5.86	5.86	0.93980	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.99948	5.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97337	0.9954	10	0.66056	D	0.02	-30.2368	18.9646	0.92691	0.0:0.0:1.0:0.0	.	329;257;253	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	C	270;253;257;257	ENSP00000312288:G253C;ENSP00000425952:G257C;ENSP00000395167:G257C	ENSP00000312288:G253C	G	+	1	0	HADH	109173828	1.000000	0.71417	0.480000	0.27341	0.869000	0.49853	9.548000	0.98103	2.771000	0.95319	0.563000	0.77884	GGT		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		29	46	1	0	4.59853e-10	1	4.77677e-10	29	46				
GREB1	9687	broad.mit.edu	37	2	11696814	11696814	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:11696814C>G	ENST00000381486.2	+	2	374	c.74C>G	c.(73-75)tCc>tGc	p.S25C	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.S25C|GREB1_ENST00000381483.2_Missense_Mutation_p.S25C|GREB1_ENST00000263834.5_Missense_Mutation_p.S25C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	25						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)		ATCGAGGCATCCCTGCGGTCC	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.(73-75)tCc>tGc		growth regulation by estrogen in breast cancer 1							109.0	97.0	101.0					2																	11696814		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11696814C>G		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.74C>G	2.37:g.11696814C>G	ENSP00000370896:p.Ser25Cys					GREB1_ENST00000389825.3_Intron|GREB1_ENST00000263834.5_Missense_Mutation_p.S25C|GREB1_ENST00000381483.2_Missense_Mutation_p.S25C|GREB1_ENST00000234142.5_Missense_Mutation_p.S25C	p.S25C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	2	374	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		25					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.74C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599682	0.87055	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.35973	2.25;1.28;1.32;2.25	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.61085	0.2319	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.986;0.964;0.998	T	0.66372	-0.5940	10	0.87932	D	0	-5.4977	18.0012	0.89198	0.0:1.0:0.0:0.0	.	25;25;25	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	C	25	ENSP00000370896:S25C;ENSP00000263834:S25C;ENSP00000370892:S25C;ENSP00000234142:S25C	ENSP00000234142:S25C	S	+	2	0	GREB1	11614265	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.354000	0.79424	2.329000	0.79093	0.655000	0.94253	TCC		0.537	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		25	47	0	0	0	1	0	25	47				
VSIG2	23584	broad.mit.edu	37	11	124618415	124618415	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:124618415C>T	ENST00000326621.5	-	6	822	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	VSIG2_ENST00000403470.1_Missense_Mutation_p.R241Q|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(721-723)cGa>cAa		V-set and immunoglobulin domain containing 2							57.0	58.0	58.0					11																	124618415		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124618415C>T	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.722G>A	11.37:g.124618415C>T	ENSP00000318684:p.Arg241Gln					VSIG2_ENST00000326621.5_Missense_Mutation_p.R241Q	p.R241Q			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	777	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	241					O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.722G>A	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062378	0.93898	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.74737	-0.83;-0.87	5.65	5.65	0.86999	.	0.379628	0.21922	N	0.067145	D	0.85071	0.5613	M	0.70595	2.14	0.36750	D	0.882698	D	0.89917	1.0	D	0.76575	0.988	D	0.87679	0.2546	10	0.72032	D	0.01	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	241	Q96IQ7	VSIG2_HUMAN	Q	241	ENSP00000318684:R241Q;ENSP00000385013:R241Q	ENSP00000318684:R241Q	R	-	2	0	VSIG2	124123625	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.251000	0.43187	2.941000	0.99782	0.655000	0.94253	CGA		0.607	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		33	25	0	0	0	1	0	33	25				
STON2	85439	broad.mit.edu	37	14	81737200	81737200	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:81737200G>C	ENST00000267540.2	-	5	2627	c.2427C>G	c.(2425-2427)caC>caG	p.H809Q	STON2_ENST00000555447.1_Missense_Mutation_p.H809Q	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	809	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAAAGAAACAGTGTGGGTGAC	0.483																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2425-2427)caC>caG		stonin 2							75.0	63.0	67.0					14																	81737200		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81737200G>C	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2427C>G	14.37:g.81737200G>C	ENSP00000267540:p.His809Gln					STON2_ENST00000267540.2_Missense_Mutation_p.H809Q	p.H809Q	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	7	2839	-			809			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2427C>G	CCDS9875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.38|19.38	3.816105|3.816105	0.70912|0.70912	.|.	.|.	ENSG00000140022|ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540|ENST00000553821	T;T|.	0.20200|.	2.09;2.09|.	5.79|5.79	4.9|4.9	0.64082|0.64082	Clathrin adaptor, mu subunit, C-terminal (3);|.	0.116278|.	0.56097|.	D|.	0.000024|.	T|T	0.60301|0.60301	0.2258|0.2258	L|L	0.43701|0.43701	1.375|1.375	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	T|T	0.57300|0.57300	-0.7835|-0.7835	10|5	0.51188|.	T|.	0.08|.	-23.6578|-23.6578	14.7188|14.7188	0.69289|0.69289	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	809;809|.	Q8WXE9;G3V2T7|.	STON2_HUMAN;.|.	Q|S	809;821;809|17	ENSP00000450857:H809Q;ENSP00000267540:H809Q|.	ENSP00000267540:H809Q|.	H|T	-|-	3|2	2|0	STON2|STON2	80806953|80806953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.794000|4.794000	0.62482|0.62482	1.439000|1.439000	0.47511|0.47511	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.483	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		22	47	0	0	0	1	0	22	47				
ZNF879	345462	broad.mit.edu	37	5	178454538	178454538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:178454538C>T	ENST00000444149.2	+	3	286	c.98C>T	c.(97-99)tCt>tTt	p.S33F	ZNF879_ENST00000519896.1_Silent_p.L44L	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						CACCTGGACTCTGCCCAGAGA	0.562																																						ENST00000444149.2																			0				endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						c.(97-99)tCt>tTt		zinc finger protein 879							177.0	160.0	165.0					5																	178454538		692	1591	2283	SO:0001583	missense	345462				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178454538C>T	AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.98C>T	5.37:g.178454538C>T	ENSP00000414887:p.Ser33Phe					ZNF879_ENST00000519896.1_Silent_p.L44L	p.S33F	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN			3	286	+			33			KRAB.			Missense_Mutation	SNP	ENST00000444149.2	37	c.98C>T	CCDS47352.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718875	0.48622	.	.	ENSG00000234284	ENST00000444149;ENST00000522442;ENST00000521285	T;T;T	0.01902	4.57;4.57;4.57	3.64	2.67	0.31697	Krueppel-associated box (4);	.	.	.	.	T	0.03915	0.0110	L	0.51914	1.62	0.80722	D	1	P	0.36789	0.57	B	0.42319	0.383	T	0.46373	-0.9196	9	0.87932	D	0	-2.9939	10.0688	0.42319	0.2009:0.7991:0.0:0.0	.	33	B4DU55	ZN879_HUMAN	F	33	ENSP00000414887:S33F;ENSP00000428477:S33F;ENSP00000431043:S33F	ENSP00000414887:S33F	S	+	2	0	ZNF879	178387144	0.000000	0.05858	0.706000	0.30403	0.587000	0.36485	0.020000	0.13466	2.006000	0.58801	0.491000	0.48974	TCT		0.562	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116		9	29	0	0	0	1	0	9	29				
EHMT1	79813	broad.mit.edu	37	9	140657182	140657182	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:140657182C>G	ENST00000460843.1	+	10	1584	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	EHMT1_ENST00000334856.6_Silent_p.L488L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.L519L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	519					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGTGCCTCTCTGCAGCTGCC	0.557																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1555-1557)ctC>ctG		euchromatic histone-lysine N-methyltransferase 1							107.0	85.0	93.0					9																	140657182		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140657182C>G	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1557C>G	9.37:g.140657182C>G						EHMT1_ENST00000462484.1_Silent_p.L519L|EHMT1_ENST00000334856.6_Silent_p.L488L|EHMT1_ENST00000371394.2_3'UTR	p.L519L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	10	1584	+	all_cancers(76;0.164)		519					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.1557C>G	CCDS7050.2																																																																																				0.557	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		24	28	0	0	0	1	0	24	28				
SACS	26278	broad.mit.edu	37	13	23915282	23915282	+	Silent	SNP	G	G	A	rs199702597		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:23915282G>A	ENST00000382292.3	-	9	3006	c.2733C>T	c.(2731-2733)acC>acT	p.T911T	SACS_ENST00000382298.3_Silent_p.T911T|SACS_ENST00000402364.1_Silent_p.T161T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	911					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTGCTATCGGTTAAACTAG	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19324	0.0		0.0	False		,,,				2504	0.0					ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(2731-2733)acC>acT		spastic ataxia of Charlevoix-Saguenay (sacsin)		G		3,4403	6.2+/-15.9	0,3,2200	136.0	138.0	138.0		2733	-2.8	0.9	13		138	0,8600		0,0,4300	no	coding-synonymous	SACS	NM_014363.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		911/4580	23915282	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915282G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2733C>T	13.37:g.23915282G>A						SACS_ENST00000402364.1_Silent_p.T161T|SACS_ENST00000382292.3_Silent_p.T911T	p.T911T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3321	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	911					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.2733C>T	CCDS9300.2																																																																																				0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		36	66	0	0	0	1	0	36	66				
CHMP7	91782	broad.mit.edu	37	8	23114104	23114104	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:23114104G>A	ENST00000397677.1	+	5	1437	c.789G>A	c.(787-789)gaG>gaA	p.E263E	CHMP7_ENST00000313219.7_Silent_p.E263E	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	263					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGAAGCAGAGAGGTAACTTT	0.493																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(787-789)gaG>gaA		charged multivesicular body protein 7							180.0	168.0	172.0					8																	23114104		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23114104G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.789G>A	8.37:g.23114104G>A						CHMP7_ENST00000313219.7_Silent_p.E263E	p.E263E	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	5	1437	+		Prostate(55;0.0513)	263					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.789G>A	CCDS6040.1																																																																																				0.493	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		75	58	0	0	0	1	0	75	58				
SIM1	6492	broad.mit.edu	37	6	100898172	100898172	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:100898172T>C	ENST00000369208.3	-	4	1101	c.319A>G	c.(319-321)Aca>Gca	p.T107A	SIM1_ENST00000262901.4_Missense_Mutation_p.T107A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	107	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACTGAGGCTGTCTCTGAGATG	0.547																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(319-321)Aca>Gca		single-minded family bHLH transcription factor 1							182.0	165.0	170.0					6																	100898172		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100898172T>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.319A>G	6.37:g.100898172T>C	ENSP00000358210:p.Thr107Ala					SIM1_ENST00000262901.4_Missense_Mutation_p.T107A	p.T107A			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	4	1101	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	107			PAS 1.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.319A>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731461	0.89390	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.14144	2.53;2.53	4.99	4.99	0.66335	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40175	-0.9577	10	0.87932	D	0	.	14.6886	0.69068	0.0:0.0:0.0:1.0	.	107	P81133	SIM1_HUMAN	A	107	ENSP00000358210:T107A;ENSP00000262901:T107A	ENSP00000262901:T107A	T	-	1	0	SIM1	101004893	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.673000	0.83973	1.885000	0.54596	0.459000	0.35465	ACA		0.547	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		67	131	0	0	0	1	0	67	131				
NOVA1	4857	broad.mit.edu	37	14	26917756	26917756	+	Missense_Mutation	SNP	G	G	T	rs150753405	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:26917756G>T	ENST00000539517.2	-	5	1250	c.933C>A	c.(931-933)gaC>gaA	p.D311E	NOVA1_ENST00000465357.2_Missense_Mutation_p.D287E|NOVA1_ENST00000267422.7_Missense_Mutation_p.D189E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	314	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGCCACCAGGTCATTGCCTG	0.488																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(931-933)gaC>gaA		neuro-oncological ventral antigen 1							65.0	60.0	62.0					14																	26917756		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917756G>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.933C>A	14.37:g.26917756G>T	ENSP00000438875:p.Asp311Glu					NOVA1_ENST00000465357.2_Missense_Mutation_p.D287E|NOVA1_ENST00000267422.7_Missense_Mutation_p.D189E	p.D311E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1250	-			314			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.933C>A	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	4.357	0.065727	0.08388	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.34275	1.64;1.63;1.61;1.37	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.40543	1.245	0.58432	D	0.999995	D;D;D	0.65815	0.995;0.984;0.99	D;D;D	0.74674	0.984;0.956;0.98	T	0.24048	-1.0171	10	0.02654	T	1	-19.9056	13.5245	0.61586	0.071:0.0:0.929:0.0	.	314;287;311	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	E	287;311;189;270	ENSP00000447391:D287E;ENSP00000438875:D311E;ENSP00000267422:D189E;ENSP00000408914:D270E	ENSP00000267422:D189E	D	-	3	2	NOVA1	25987596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.646000	0.61411	2.814000	0.96858	0.563000	0.77884	GAC		0.488	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		13	36	1	0	3.27435e-08	1	3.36217e-08	13	36				
PANK1	53354	broad.mit.edu	37	10	91371485	91371485	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:91371485C>T	ENST00000307534.4	-	2	1179	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	PANK1_ENST00000342512.3_Missense_Mutation_p.G117R|PANK1_ENST00000322191.6_Missense_Mutation_p.G117R|PANK1_ENST00000371774.2_Missense_Mutation_p.G144R	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	342					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTGAAAGCCCCGCCTCCTGTG	0.488																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(1024-1026)Ggg>Agg		pantothenate kinase 1	Bezafibrate(DB01393)						51.0	49.0	50.0					10																	91371485		2203	4300	6503	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91371485C>T	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1024G>A	10.37:g.91371485C>T	ENSP00000302108:p.Gly342Arg					PANK1_ENST00000322191.6_Missense_Mutation_p.G117R|PANK1_ENST00000371774.2_Missense_Mutation_p.G144R|PANK1_ENST00000342512.3_Missense_Mutation_p.G117R	p.G342R	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			2	1179	-			342					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.1024G>A	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072621	0.76415	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99803	-6.82;-6.82;-6.82;-6.82	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	M	0.90814	3.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97459	1.0033	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	144;342;117;117	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	R	117;117;144;342;205	ENSP00000345118:G117R;ENSP00000318526:G117R;ENSP00000360839:G144R;ENSP00000302108:G342R	ENSP00000302108:G342R	G	-	1	0	PANK1	91361465	1.000000	0.71417	0.980000	0.43619	0.172000	0.22775	7.726000	0.84824	2.906000	0.99361	0.655000	0.94253	GGG		0.488	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	11	0	0	0	1	0	14	11				
ERCC6L2	375748	broad.mit.edu	37	9	98643463	98643463	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:98643463A>G	ENST00000288985.7	+	2	697	c.392A>G	c.(391-393)aAt>aGt	p.N131S	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	131					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TATACCATCAATAGGTATTTG	0.393																																						ENST00000288985.7																			0											c.(391-393)aAt>aGt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							66.0	67.0	67.0					9																	98643463		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98643463A>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.392A>G	9.37:g.98643463A>G	ENSP00000288985:p.Asn131Ser					ERCC6L2_ENST00000466840.1_3'UTR	p.N131S	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			2	697	+			131					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.392A>G	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449410	0.63178	.	.	ENSG00000182150	ENST00000288985	D	0.93307	-3.2	5.31	5.31	0.75309	DEAD-like helicase (1);	0.000000	0.64402	D	0.000018	D	0.94860	0.8339	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92475	0.5988	10	0.07030	T	0.85	-28.0024	15.4236	0.75035	1.0:0.0:0.0:0.0	.	131	Q5T890	RAD26_HUMAN	S	131	ENSP00000288985:N131S	ENSP00000288985:N131S	N	+	2	0	C9orf102	97683284	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.477000	0.90424	2.226000	0.72624	0.477000	0.44152	AAT		0.393	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		38	15	0	0	0	1	0	38	15				
THADA	63892	broad.mit.edu	37	2	43458176	43458176	+	Missense_Mutation	SNP	C	C	G	rs201598481		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:43458176C>G	ENST00000405006.4	-	38	6124	c.5773G>C	c.(5773-5775)Gaa>Caa	p.E1925Q	THADA_ENST00000415080.2_Missense_Mutation_p.E1606Q|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.E1925Q|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1925										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTTCCCCTTCCTTTCCTTCC	0.473																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5773-5775)Gaa>Caa		thyroid adenoma associated							61.0	60.0	60.0					2																	43458176		1944	4143	6087	SO:0001583	missense	63892						binding	g.chr2:43458176C>G	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5773G>C	2.37:g.43458176C>G	ENSP00000385995:p.Glu1925Gln					THADA_ENST00000415080.2_Missense_Mutation_p.E1606Q|THADA_ENST00000405975.2_Missense_Mutation_p.E1925Q|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA	p.E1925Q	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			38	6124	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1925					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.5773G>C	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.25|16.25	3.070955|3.070955	0.55646|0.55646	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.12672|.	2.83;2.66;2.83|.	5.18|5.18	4.29|4.29	0.51040|0.51040	.|.	0.322029|.	0.24033|.	N|.	0.042166|.	T|T	0.45458|0.45458	0.1343|0.1343	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	D;B|.	0.54601|.	0.967;0.442|.	P;B|.	0.47102|.	0.537;0.135|.	T|T	0.34104|0.34104	-0.9842|-0.9842	10|5	0.87932|.	D|.	0|.	.|.	7.9364|7.9364	0.29933|0.29933	0.0:0.7641:0.0:0.2359|0.0:0.7641:0.0:0.2359	.|.	1852;1925|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	Q|S	1925;1852;1606;1925|1164	ENSP00000386088:E1925Q;ENSP00000416048:E1606Q;ENSP00000385995:E1925Q|.	ENSP00000349464:E1852Q|.	E|R	-|-	1|3	0|2	THADA|THADA	43311680|43311680	0.008000|0.008000	0.16893|0.16893	0.651000|0.651000	0.29564|0.29564	0.929000|0.929000	0.56500|0.56500	1.730000|1.730000	0.38125|0.38125	2.388000|2.388000	0.81334|0.81334	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.473	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		17	22	0	0	0	1	0	17	22				
BICD2	23299	broad.mit.edu	37	9	95485020	95485020	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:95485020G>A	ENST00000375512.3	-	3	591	c.524C>T	c.(523-525)gCt>gTt	p.A175V	BICD2_ENST00000356884.6_Missense_Mutation_p.A175V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	175					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCAGACGAGCTTCCCGGAA	0.557																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(523-525)gCt>gTt		bicaudal D homolog 2 (Drosophila)							135.0	115.0	122.0					9																	95485020		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95485020G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.524C>T	9.37:g.95485020G>A	ENSP00000364662:p.Ala175Val					BICD2_ENST00000375512.3_Missense_Mutation_p.A175V	p.A175V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			3	591	-			175					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.524C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559552	0.65538	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.46819	0.86;0.86	4.66	4.66	0.58398	.	0.253235	0.39341	N	0.001387	T	0.45796	0.1360	L	0.61387	1.9	0.42538	D	0.993063	B;P	0.35363	0.441;0.497	B;B	0.34038	0.109;0.174	T	0.47824	-0.9087	10	0.34782	T	0.22	-18.6795	15.4221	0.75022	0.0:0.0:1.0:0.0	.	175;175	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	175	ENSP00000349351:A175V;ENSP00000364662:A175V	ENSP00000349351:A175V	A	-	2	0	BICD2	94524841	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.431000	0.59915	2.319000	0.78375	0.561000	0.74099	GCT		0.557	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		18	33	0	0	0	1	0	18	33				
PRRX1	5396	broad.mit.edu	37	1	170705312	170705312	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:170705312G>A	ENST00000239461.6	+	4	1036	c.723G>A	c.(721-723)gtG>gtA	p.V241V	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	241					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAACCAGGTGCCAACAGTCA	0.438																																						ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.(721-723)gtG>gtA		paired related homeobox 1							99.0	96.0	97.0					1																	170705312		2203	4300	6503	SO:0001819	synonymous_variant	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170705312G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.723G>A	1.37:g.170705312G>A						PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	p.V241V	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			4	1036	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		241					B5BUM7|O60807	Silent	SNP	ENST00000239461.6	37	c.723G>A	CCDS1290.1																																																																																				0.438	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		39	60	0	0	0	1	0	39	60				
TBX3	6926	broad.mit.edu	37	12	115112612	115112612	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:115112612G>A	ENST00000257566.3	-	7	1517	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	TBX3_ENST00000349155.2_Silent_p.D356D	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	376					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGGCCTCGGCGTCGCTCTCAC	0.612																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1066-1068)gaC>gaT		T-box 3							9.0	10.0	10.0					12																	115112612		2182	4240	6422	SO:0001819	synonymous_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115112612G>A	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1128C>T	12.37:g.115112612G>A						TBX3_ENST00000257566.3_Silent_p.D376D	p.D356D	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	6	2031	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		376					Q8TB20|Q9UKF8	Silent	SNP	ENST00000257566.3	37	c.1068C>T	CCDS9176.1																																																																																				0.612	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	7	0	0	0	1	0	3	7				
ATP6V1G3	127124	broad.mit.edu	37	1	198498295	198498295	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:198498295C>G	ENST00000367382.1	-	2	183	c.99G>C	c.(97-99)ttG>ttC	p.L33F	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.L39F|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.L39F|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.E49Q			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	33					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TGGCTTGCTTCAATCGCTTTC	0.274																																						ENST00000309309.7																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						c.(145-147)Gaa>Caa		ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3							151.0	139.0	143.0					1																	198498295		2202	4299	6501	SO:0001583	missense	127124				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding	g.chr1:198498295C>G	AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.99G>C	1.37:g.198498295C>G	ENSP00000356352:p.Leu33Phe					ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.L39F|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.L39F	p.E49Q	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN			4	250	-			0					Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	c.145G>C	CCDS1395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.65|14.65	2.597660|2.597660	0.46318|0.46318	.|.	.|.	ENSG00000151418|ENSG00000151418	ENST00000309309|ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	.|T;T;T;T	.|0.62639	.|0.01;0.01;0.01;0.01	5.18|5.18	-4.02|-4.02	0.04034|0.04034	.|.	.|0.231325	.|0.36444	.|N	.|0.002589	T|T	0.69396|0.69396	0.3106|0.3106	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|D;D	0.24368|0.76494	0.102|0.999;0.993	B|D;D	0.18561|0.71656	0.022|0.974;0.955	T|T	0.63708|0.63708	-0.6576|-0.6576	7|9	0.87932|0.87932	D|D	0|0	-0.0111|-0.0111	8.0098|8.0098	0.30347|0.30347	0.0:0.3908:0.1079:0.5013|0.0:0.3908:0.1079:0.5013	.|.	49|39;33	Q96LB4-3|Q96LB4-4;Q96LB4	.|.;VATG3_HUMAN	Q|F	49|33;39;33;39	.|ENSP00000356352:L33F;ENSP00000356351:L39F;ENSP00000281087:L33F;ENSP00000417171:L39F	ENSP00000309574:E49Q|ENSP00000281087:L33F	E|L	-|-	1|3	0|2	ATP6V1G3|ATP6V1G3	196764918|196764918	0.036000|0.036000	0.19791|0.19791	0.000000|0.000000	0.03702|0.03702	0.875000|0.875000	0.50365|0.50365	-0.872000|-0.872000	0.04219|0.04219	-0.645000|-0.645000	0.05458|0.05458	-0.145000|-0.145000	0.13849|0.13849	GAA|TTG		0.274	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326		36	44	0	0	0	1	0	36	44				
TG	7038	broad.mit.edu	37	8	133899063	133899063	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:133899063G>A	ENST00000220616.4	+	9	1486	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	TG_ENST00000377869.1_Silent_p.Q482Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	482					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Q482H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTTGGCCAGTTTAACTTGT	0.478																																						ENST00000220616.4																			1	Substitution - Missense(1)	p.Q482H(1)	large_intestine(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1444-1446)caG>caA		thyroglobulin							78.0	82.0	81.0					8																	133899063		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899063G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1446G>A	8.37:g.133899063G>A						TG_ENST00000377869.1_Silent_p.Q482Q	p.Q482Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1486	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	482					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.1446G>A	CCDS34944.1																																																																																				0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		47	140	0	0	0	1	0	47	140				
NEB	4703	broad.mit.edu	37	2	152383456	152383456	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:152383456G>C	ENST00000172853.10	-	120	16965	c.16818C>G	c.(16816-16818)ctC>ctG	p.L5606L	NEB_ENST00000604864.1_Silent_p.L7307L|NEB_ENST00000397345.3_Silent_p.L7307L|NEB_ENST00000427231.2_Silent_p.L7307L|NEB_ENST00000603639.1_Silent_p.L7307L|NEB_ENST00000409198.1_Silent_p.L5606L			P20929	NEBU_HUMAN	nebulin	5606					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTATTCCTGAGGGCGAGCA	0.473																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(21919-21921)ctC>ctG		nebulin							111.0	116.0	114.0					2																	152383456		1926	4120	6046	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152383456G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16818C>G	2.37:g.152383456G>C						NEB_ENST00000409198.1_Silent_p.L5606L|NEB_ENST00000603639.1_Silent_p.L7307L|NEB_ENST00000604864.1_Silent_p.L7307L|NEB_ENST00000427231.2_Silent_p.L7307L|NEB_ENST00000172853.10_Silent_p.L5606L	p.L7307L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	148	22123	-			5606					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.21921C>G																																																																																					0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	6	0	0	0	1	0	3	6				
COL6A3	1293	broad.mit.edu	37	2	238253353	238253353	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:238253353C>G	ENST00000295550.4	-	36	7760	c.7308G>C	c.(7306-7308)gaG>gaC	p.E2436D	COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230D|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236D|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829D|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235D|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2436	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCAGTTGCTCTCAGCAATGG	0.562																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7306-7308)gaG>gaC		collagen, type VI, alpha 3							69.0	73.0	72.0					2																	238253353		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253353C>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7308G>C	2.37:g.238253353C>G	ENSP00000295550:p.Glu2436Asp					COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829D|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230D|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235D|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236D|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230D	p.E2436D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	7760	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2436			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7308G>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271270	0.40194	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.22	5.22	0.72569	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000036	T	0.19725	0.0474	L	0.39566	1.225	0.47737	D	0.999504	P;B;P;P	0.46784	0.884;0.434;0.587;0.831	P;B;B;P	0.49752	0.493;0.287;0.36;0.621	T	0.00363	-1.1788	10	0.52906	T	0.07	.	14.4114	0.67117	0.0:0.8527:0.1473:0.0	.	1829;1829;2230;2436	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	D	2436;2235;2230;1829;2230;2236	ENSP00000295550:E2436D;ENSP00000315609:E2235D;ENSP00000315873:E2230D;ENSP00000418285:E1829D;ENSP00000386844:E2230D;ENSP00000295546:E2236D	ENSP00000295550:E2436D	E	-	3	2	COL6A3	237918092	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.992000	0.40737	2.427000	0.82271	0.655000	0.94253	GAG		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		47	104	0	0	0	1	0	47	104				
ZNF786	136051	broad.mit.edu	37	7	148768226	148768226	+	Silent	SNP	G	G	A	rs369230262		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:148768226G>A	ENST00000491431.1	-	4	1702	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	ZNF786_ENST00000316286.9_Silent_p.F460F|ZNF786_ENST00000451334.3_Silent_p.F509F	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTTCAGGCGGAAGCGCTTGT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		21900	0.0		0.001	False		,,,				2504	0.0					ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1378-1380)ttC>ttT		zinc finger protein 786		G		1,4293		0,1,2146	22.0	25.0	24.0		1638	4.7	1.0	7		24	3,8511		0,3,4254	no	coding-synonymous	ZNF786	NM_152411.3		0,4,6400	AA,AG,GG		0.0352,0.0233,0.0312		546/783	148768226	4,12804	2147	4257	6404	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768226G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1638C>T	7.37:g.148768226G>A						ZNF786_ENST00000491431.1_Silent_p.F546F|ZNF786_ENST00000451334.3_Silent_p.F509F	p.F460F			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1652	-	Melanoma(164;0.15)		546					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1380C>T	CCDS47738.1																																																																																				0.627	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		19	19	0	0	0	1	0	19	19				
NOP56	10528	broad.mit.edu	37	20	2637154	2637154	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:2637154C>T	ENST00000329276.5	+	9	1634	c.1118C>T	c.(1117-1119)gCa>gTa	p.A373V	SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	373	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CGATACCTGGCAAACAAATGC	0.552																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1117-1119)gCa>gTa		NOP56 ribonucleoprotein							69.0	67.0	67.0					20																	2637154		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2637154C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1118C>T	20.37:g.2637154C>T	ENSP00000370589:p.Ala373Val					NOP56_ENST00000492135.1_3'UTR	p.A373V	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			9	1634	+			373			Nop.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.1118C>T	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.994217|4.994217	0.93167|0.93167	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	D|.	0.86432|.	-2.12|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);|.	0.046170|.	0.85682|.	D|.	0.000000|.	D|.	0.92718|.	0.7685|.	H|H	0.99948|0.99948	5.02|5.02	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.994;0.985|.	D|.	0.95927|.	0.8935|.	10|.	0.87932|.	D|.	0|.	-12.9712|-12.9712	17.7923|17.7923	0.88558|0.88558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120;373|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|X	373;120|114	ENSP00000370589:A373V|.	ENSP00000370589:A373V|.	A|Q	+|+	2|1	0|0	NOP56|NOP56	2585154|2585154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.574000|7.574000	0.82434|0.82434	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCA|CAA		0.552	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		36	52	0	0	0	1	0	36	52				
HOXD13	3239	broad.mit.edu	37	2	176958041	176958041	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:176958041G>A	ENST00000392539.3	+	1	423	c.423G>A	c.(421-423)tcG>tcA	p.S141S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	141					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCCGTATGTCGCACGGCGTGG	0.667			T	NUP98	AML*																																	ENST00000392539.3				Dom	yes		2	2q31-q32	3239	T	homeo box D13			L	NUP98		AML*		0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6						c.(421-423)tcG>tcA		homeobox D13							19.0	20.0	19.0					2																	176958041		2198	4288	6486	SO:0001819	synonymous_variant	3239				skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding	g.chr2:176958041G>A	AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"""Homeoboxes / ANTP class : HOXL subclass"""	5136	protein-coding gene	gene with protein product		142989	"""homeo box D13"""	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.423G>A	2.37:g.176958041G>A							p.S141S	NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)	1	423	+			141						Silent	SNP	ENST00000392539.3	37	c.423G>A	CCDS2264.2																																																																																				0.667	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359256.1			16	27	0	0	0	1	0	16	27				
SLC25A42	284439	broad.mit.edu	37	19	19206982	19206982	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:19206982G>C	ENST00000318596.7	+	2	200	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	17					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGAGGATGCTGAGGCTGTCCT	0.647																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(49-51)Gag>Cag		solute carrier family 25, member 42							211.0	167.0	182.0					19																	19206982		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19206982G>C		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.49G>C	19.37:g.19206982G>C	ENSP00000326693:p.Glu17Gln						p.E17Q	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		2	200	+			17					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.49G>C	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	3.404	-0.121589	0.06838	.	.	ENSG00000181035	ENST00000318596	T	0.79845	-1.31	3.72	1.5	0.22942	.	1.149480	0.06427	N	0.723399	T	0.66479	0.2793	L	0.29908	0.895	0.09310	N	1	B;B	0.29432	0.244;0.055	B;B	0.24701	0.055;0.006	T	0.49380	-0.8946	10	0.12766	T	0.61	-1.0693	6.0431	0.19746	0.1122:0.4196:0.4682:0.0	.	69;17	B7Z8R5;Q86VD7	.;S2542_HUMAN	Q	17	ENSP00000326693:E17Q	ENSP00000326693:E17Q	E	+	1	0	SLC25A42	19067982	0.801000	0.28930	0.005000	0.12908	0.043000	0.13939	3.140000	0.50585	0.362000	0.24319	-0.379000	0.06801	GAG		0.647	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		11	42	0	0	0	1	0	11	42				
ZNF25	219749	broad.mit.edu	37	10	38242687	38242687	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:38242687C>T	ENST00000302609.7	-	5	451		c.e5-1		AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_Splice_Site	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGTCTTCTACAAGGGAA	0.328																																						ENST00000302609.7																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e5-1		zinc finger protein 25							87.0	84.0	85.0					10																	38242687		2203	4300	6503	SO:0001630	splice_region_variant	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38242687C>T	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.239-1G>A	10.37:g.38242687C>T						ZNF25_ENST00000374633.1_Splice_Site		NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN			5	451	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)						A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Splice_Site	SNP	ENST00000302609.7	37		CCDS7195.1	.	.	.	.	.	.	.	.	.	.	C	6.527	0.465533	0.12402	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	.	.	.	4.7	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.033	0.36271	0.0:0.899:0.0:0.101	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF25	38282693	0.017000	0.18338	0.543000	0.28128	0.187000	0.23431	1.258000	0.32944	1.334000	0.45468	0.563000	0.77884	.		0.328	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966	Intron	11	21	0	0	0	1	0	11	21				
DAB2IP	153090	broad.mit.edu	37	9	124535309	124535309	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:124535309G>C	ENST00000408936.3	+	12	2684	c.2502G>C	c.(2500-2502)caG>caC	p.Q834H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.Q710H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.Q806H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	834	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGTGTACCAGATGGCGGCTG	0.692																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2500-2502)caG>caC		DAB2 interacting protein							24.0	24.0	24.0					9																	124535309		2148	4216	6364	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535309G>C	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2502G>C	9.37:g.124535309G>C	ENSP00000386183:p.Gln834His					DAB2IP_ENST00000309989.1_Missense_Mutation_p.Q710H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.Q806H	p.Q834H			Q5VWQ8	DAB2P_HUMAN			12	2684	+			834					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2502G>C		.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467234	0.04476	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.69	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	N	0.17631	0.505	0.48830	D	0.999717	D;B	0.67145	0.996;0.006	D;B	0.81914	0.995;0.043	T	0.25916	-1.0118	10	0.02654	T	1	.	8.3801	0.32466	0.2528:0.0:0.7472:0.0	.	834;806	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	H	806;834;743;710	ENSP00000259371:Q806H;ENSP00000386183:Q834H;ENSP00000362887:Q743H;ENSP00000310827:Q710H	ENSP00000259371:Q806H	Q	+	3	2	DAB2IP	123575130	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.405000	0.44548	1.098000	0.41479	0.462000	0.41574	CAG		0.692	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		19	41	0	0	0	1	0	19	41				
IRF3	3661	broad.mit.edu	37	19	50164047	50164047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:50164047G>A	ENST00000597198.1	-	7	1402	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	IRF3_ENST00000593922.1_Missense_Mutation_p.R195C|IRF3_ENST00000309877.7_Missense_Mutation_p.R341C|IRF3_ENST00000601291.1_Missense_Mutation_p.T346M|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R214C|IRF3_ENST00000599144.1_Missense_Mutation_p.R195C|IRF3_ENST00000377139.3_Missense_Mutation_p.R341C|IRF3_ENST00000596765.1_Missense_Mutation_p.R68C|IRF3_ENST00000600911.1_Intron|IRF3_ENST00000599223.1_Missense_Mutation_p.R214C|IRF3_ENST00000598808.1_Missense_Mutation_p.R195C|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000600022.1_Missense_Mutation_p.R68C			Q14653	IRF3_HUMAN	interferon regulatory factor 3	341	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGGGCATAGCGTGGTGAGCGT	0.612																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(1021-1023)Cgc>Tgc		interferon regulatory factor 3							53.0	41.0	45.0					19																	50164047		2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50164047G>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1021C>T	19.37:g.50164047G>A	ENSP00000469113:p.Arg341Cys					IRF3_ENST00000596765.1_Missense_Mutation_p.R68C|IRF3_ENST00000600022.1_Missense_Mutation_p.R68C|IRF3_ENST00000309877.7_Missense_Mutation_p.R341C|IRF3_ENST00000598808.1_Missense_Mutation_p.R195C|IRF3_ENST00000377139.3_Missense_Mutation_p.R341C|IRF3_ENST00000599223.1_Missense_Mutation_p.R214C|IRF3_ENST00000377135.4_Missense_Mutation_p.R214C|IRF3_ENST00000599144.1_Missense_Mutation_p.R195C|IRF3_ENST00000593922.1_Missense_Mutation_p.R195C|IRF3_ENST00000601291.1_Missense_Mutation_p.T346M|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000600911.1_Intron|IRF3_ENST00000596822.1_Intron	p.R341C			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	7	1402	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	341			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.1021C>T	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635211	0.67130	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.94280	-3.39;-3.39;-3.39	4.43	4.43	0.53597	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	.	.	.	.	D	0.93083	0.7798	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.56648	0.803;0.736	D	0.92630	0.6115	9	0.59425	D	0.04	.	9.7486	0.40462	0.0:0.0:0.7939:0.2061	.	341;214	Q14653;Q5FBY1	IRF3_HUMAN;.	C	341;341;214	ENSP00000366344:R341C;ENSP00000310127:R341C;ENSP00000366339:R214C	ENSP00000310127:R341C	R	-	1	0	IRF3	54855859	1.000000	0.71417	0.937000	0.37676	0.944000	0.59088	2.128000	0.42045	2.304000	0.77564	0.591000	0.81541	CGC		0.612	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		6	7	0	0	0	1	0	6	7				
OR8H2	390151	broad.mit.edu	37	11	55872944	55872944	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:55872944C>T	ENST00000313503.1	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCTCTGCCTCGCTCTCATCA	0.458										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(424-426)ctC>ctT		olfactory receptor, family 8, subfamily H, member 2							209.0	190.0	196.0					11																	55872944		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872944C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.426C>T	11.37:g.55872944C>T		HNSCC(53;0.14)					p.L142L	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	426	+	Esophageal squamous(21;0.00693)		142					Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.426C>T	CCDS31518.1																																																																																				0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		65	127	0	0	0	1	0	65	127				
NUDT5	11164	broad.mit.edu	37	10	12209713	12209713	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:12209713G>C	ENST00000491614.1	-	10	1043	c.648C>G	c.(646-648)ttC>ttG	p.F216L	SEC61A2_ENST00000495368.1_Intron|NUDT5_ENST00000537776.1_Missense_Mutation_p.F216L|SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000378937.3_Missense_Mutation_p.F229L|NUDT5_ENST00000378952.3_5'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	216					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				AAAATTTCAAGAAGGGCACTT	0.423																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(646-648)ttC>ttG		nudix (nucleoside diphosphate linked moiety X)-type motif 5							130.0	122.0	125.0					10																	12209713		2203	4300	6503	SO:0001583	missense	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12209713G>C	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.648C>G	10.37:g.12209713G>C	ENSP00000419628:p.Phe216Leu					SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|NUDT5_ENST00000537776.1_Missense_Mutation_p.F216L|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.F229L	p.F216L			Q9UKK9	NUDT5_HUMAN			10	1043	-		Renal(717;0.228)	216					A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	ENST00000491614.1	37	c.648C>G	CCDS7089.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890576	0.52014	.	.	ENSG00000165609	ENST00000491614;ENST00000378937;ENST00000537776	T;T;T	0.40476	1.06;1.03;1.06	5.17	4.27	0.50696	.	0.055535	0.64402	D	0.000001	T	0.22399	0.0540	N	0.08118	0	0.43304	D	0.995302	B	0.28933	0.228	B	0.26770	0.073	T	0.07790	-1.0754	10	0.56958	D	0.05	-17.8239	9.2385	0.37481	0.1722:0.0:0.8278:0.0	.	216	Q9UKK9	NUDT5_HUMAN	L	216;229;216	ENSP00000419628:F216L;ENSP00000368219:F229L;ENSP00000445116:F216L	ENSP00000368219:F229L	F	-	3	2	NUDT5	12249719	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.960000	0.29253	1.172000	0.42781	0.557000	0.71058	TTC		0.423	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			32	73	0	0	0	1	0	32	73				
SMYD1	150572	broad.mit.edu	37	2	88405915	88405915	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:88405915G>A	ENST00000419482.2	+	8	1138	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	SMYD1_ENST00000444564.2_Silent_p.L338L|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	351					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTACATGCTGCGGATGCTGA	0.537																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(1051-1053)ctG>ctA		SET and MYND domain containing 1							178.0	136.0	150.0					2																	88405915		2203	4300	6503	SO:0001819	synonymous_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88405915G>A	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1053G>A	2.37:g.88405915G>A						SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L338L	p.L351L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			8	1138	+			351					A0AV30|A6NE13	Silent	SNP	ENST00000419482.2	37	c.1053G>A	CCDS33240.1																																																																																				0.537	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		23	39	0	0	0	1	0	23	39				
DGKK	139189	broad.mit.edu	37	X	50213142	50213142	+	RNA	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:50213142G>T	ENST00000376025.2	-	0	595							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAATAGACATGGTGCTGGACT	0.622																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							38.0	37.0	37.0					X																	50213142		1971	4131	6102			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213142G>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213142G>T										Q5KSL6	DGKK_HUMAN			0	595	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.622	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		13	9	1	0	1.5842e-08	1	1.63294e-08	13	9				
MDP1	145553	broad.mit.edu	37	14	24684863	24684863	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:24684863C>T	ENST00000288087.7	-	3	215	c.104G>A	c.(103-105)gGa>gAa	p.G35E	TM9SF1_ENST00000556387.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.G52E|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000396833.2_Missense_Mutation_p.G35E	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	35						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TCGTACAGTTCCATCACTGGA	0.617											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(103-105)gGa>gAa		magnesium-dependent phosphatase 1							162.0	164.0	163.0					14																	24684863		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24684863C>T	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.104G>A	14.37:g.24684863C>T	ENSP00000288087:p.Gly35Glu		OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.G52E|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.G35E	p.G35E	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					3	215	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.104G>A	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372279	0.82573	.	.	ENSG00000213920;ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000396833;ENST00000534348	D;D;D	0.98792	-4.71;-4.71;-5.14	4.86	4.86	0.63082	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.98729	0.9573	L	0.60904	1.88	0.34963	D	0.75237	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79108	0.992;0.918;0.93	D	0.99971	1.2019	9	0.59425	D	0.04	-7.4863	15.2664	0.73666	0.0:1.0:0.0:0.0	.	35;35;35	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	E	35;35;52	ENSP00000288087:G35E;ENSP00000380045:G35E;ENSP00000431482:G52E	ENSP00000288087:G35E	G	-	2	0	MDP1;NEDD8-MDP1	23754703	0.965000	0.33210	0.981000	0.43875	0.839000	0.47603	2.533000	0.45667	2.408000	0.81797	0.655000	0.94253	GGA		0.617	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		99	175	0	0	0	1	0	99	175				
SHANK3	85358	broad.mit.edu	37	22	51159731	51159731	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:51159731C>T	ENST00000414786.2	+	21	3655	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V	SHANK3_ENST00000262795.3_Missense_Mutation_p.A1173V|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1159V			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1157					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGTCCCTGGCTTCCCCGGCT	0.706																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3427-3429)gCt>gTt		SH3 and multiple ankyrin repeat domains 3							21.0	26.0	24.0					22																	51159731		1898	4097	5995	SO:0001583	missense	85358							g.chr22:51159731C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3428C>T	22.37:g.51159731C>T	ENSP00000464552:p.Ala1143Val					SHANK3_ENST00000262795.3_Missense_Mutation_p.A1173V|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1159V	p.A1143V			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3655	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1173					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.3428C>T		.	.	.	.	.	.	.	.	.	.	C	4.277	0.050590	0.08243	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.17691	2.26;2.26	4.13	4.13	0.48395	.	0.455228	0.24074	N	0.041790	T	0.15305	0.0369	L	0.50333	1.59	0.24378	N	0.99481	P;B;P	0.47762	0.9;0.3;0.689	B;B;B	0.36244	0.22;0.045;0.186	T	0.15235	-1.0444	10	0.42905	T	0.14	.	13.9008	0.63802	0.0:1.0:0.0:0.0	.	1157;1158;1173	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	V	1173;1159	ENSP00000442518:A1173V;ENSP00000446078:A1159V	ENSP00000442518:A1173V	A	+	2	0	SHANK3	49506597	0.004000	0.15560	0.925000	0.36789	0.078000	0.17371	1.277000	0.33167	1.863000	0.54032	0.462000	0.41574	GCT		0.706	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		12	25	0	0	0	1	0	12	25				
OR13D1	286365	broad.mit.edu	37	9	107457533	107457533	+	Silent	SNP	G	G	C	rs369937407		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:107457533G>C	ENST00000318763.5	+	1	874	c.831G>C	c.(829-831)tcG>tcC	p.S277S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCACTCGATTGTGGTCA	0.388																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(829-831)tcG>tcC		olfactory receptor, family 13, subfamily D, member 1		G		1,4405	2.1+/-5.4	0,1,2202	174.0	168.0	170.0		831	-2.2	0.0	9		170	0,8600		0,0,4300	no	coding-synonymous	OR13D1	NM_001004484.1		0,1,6502	CC,CG,GG		0.0,0.0227,0.0077		277/347	107457533	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457533G>C		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.831G>C	9.37:g.107457533G>C							p.S277S	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	874	+			277		S -> L (in dbSNP:rs10761073).			B9EIS1|Q6IFL1	Silent	SNP	ENST00000318763.5	37	c.831G>C	CCDS35094.1																																																																																				0.388	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			36	72	0	0	0	1	0	36	72				
ZNRF1	84937	broad.mit.edu	37	16	75146567	75146567	+	IGR	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:75146567G>C	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Missense_Mutation_p.L408V|LDHD_ENST00000300051.4_Missense_Mutation_p.L431V|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TTGACCAGCAGGATGCAGTGG	0.602																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(1291-1293)Ctg>Gtg		lactate dehydrogenase D							68.0	57.0	61.0					16																	75146567		2198	4300	6498	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146567G>C	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146567G>C						LDHD_ENST00000450168.2_Missense_Mutation_p.L408V	p.L431V	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN			10	1337	-			431					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.1291C>G	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857337	0.17106	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.82526	-1.62;-1.62	5.66	2.3	0.28687	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.260319	0.35970	N	0.002871	T	0.73418	0.3584	L	0.41236	1.265	0.39999	D	0.97514	B;B	0.27625	0.092;0.183	B;B	0.32677	0.093;0.15	T	0.69109	-0.5232	10	0.40728	T	0.16	-20.2498	5.608	0.17391	0.166:0.0:0.5715:0.2625	.	408;431	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	V	408;431	ENSP00000417011:L408V;ENSP00000300051:L431V	ENSP00000300051:L431V	L	-	1	2	LDHD	73704068	1.000000	0.71417	0.970000	0.41538	0.044000	0.14063	1.320000	0.33666	1.400000	0.46741	0.563000	0.77884	CTG		0.602	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			17	31	0	0	0	1	0	17	31				
CSMD3	114788	broad.mit.edu	37	8	114389345	114389345	+	Intron	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:114389345G>A	ENST00000297405.5	-	1	423				CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_De_novo_Start_InFrame	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCGGCGTCGTCCGGCTCTC	0.706										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000343508.3																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646								CUB and Sushi multiple domains 3																																				SO:0001627	intron_variant	114788					integral to membrane|plasma membrane		g.chr8:114389345G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.178+59560C>T	8.37:g.114389345G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron		NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN			0	37	-								Q96PZ3	Translation_Start_Site	SNP	ENST00000297405.5	37		CCDS6315.1																																																																																				0.706	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	6	0	0	0	1	0	6	6				
TAX1BP1	8887	broad.mit.edu	37	7	27825078	27825078	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:27825078G>C	ENST00000396319.2	+	7	910	c.822G>C	c.(820-822)aaG>aaC	p.K274N	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.K274N|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.K274N|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.K117N|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.K274N	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	274					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTCAGTTGAAGACAGAGAAGG	0.323																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(820-822)aaG>aaC		Tax1 (human T-cell leukemia virus type I) binding protein 1							95.0	107.0	103.0					7																	27825078		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27825078G>C	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.822G>C	7.37:g.27825078G>C	ENSP00000379612:p.Lys274Asn					TAX1BP1_ENST00000433216.2_Missense_Mutation_p.K117N|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.K274N|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.K274N|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.K274N	p.K274N	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		7	910	+			274					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.822G>C	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676076	0.67928	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.95	5.95	0.96441	.	0.107978	0.40144	N	0.001173	T	0.27349	0.0671	M	0.62723	1.935	0.50467	D	0.999877	D;D;D	0.63046	0.992;0.986;0.984	D;P;D	0.64595	0.917;0.903;0.927	T	0.00175	-1.1955	10	0.72032	D	0.01	-11.2698	11.6706	0.51399	0.1363:0.0:0.8637:0.0	.	117;274;274	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	N	274;274;274;117;274	ENSP00000444811:K274N;ENSP00000265393:K274N;ENSP00000386515:K274N;ENSP00000391907:K117N;ENSP00000379612:K274N	ENSP00000265393:K274N	K	+	3	2	TAX1BP1	27791603	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	4.307000	0.59123	2.822000	0.97130	0.650000	0.86243	AAG		0.323	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		36	57	0	0	0	1	0	36	57				
SLC45A3	85414	broad.mit.edu	37	1	205632310	205632310	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:205632310G>C	ENST00000367145.3	-	3	904	c.609C>G	c.(607-609)ctC>ctG	p.L203L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	203					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGATGAGGGTGAGCAGGCCAA	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	ENST00000367145.3				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(607-609)ctC>ctG		solute carrier family 45, member 3							19.0	21.0	20.0					1																	205632310		2202	4298	6500	SO:0001819	synonymous_variant	85414				transmembrane transport	integral to membrane		g.chr1:205632310G>C	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.609C>G	1.37:g.205632310G>C							p.L203L	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	904	-	Breast(84;0.07)		203					A8K2U9	Silent	SNP	ENST00000367145.3	37	c.609C>G	CCDS1458.1																																																																																				0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102		13	17	0	0	0	1	0	13	17				
SORCS3	22986	broad.mit.edu	37	10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215					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)		CTTATCCTGACGAAGCTGTAT	0.463																																					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.(643-645)aCg>aTg		sortilin-related VPS10 domain containing receptor 3							97.0	89.0	92.0					10																	106602566		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106602566C>T	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.644C>T	10.37:g.106602566C>T	ENSP00000358715:p.Thr215Met						p.T215M	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)	2	871	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	215					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.644C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.438188	0.62955	.	.	ENSG00000156395	ENST00000369701	T	0.42513	0.97	5.78	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.41492	1.28	0.37977	D	0.93348	D	0.89917	1.0	D	0.70716	0.97	T	0.62553	-0.6830	10	0.87932	D	0	.	13.8987	0.63790	0.0:0.9275:0.0:0.0725	.	215	Q9UPU3	SORC3_HUMAN	M	215	ENSP00000358715:T215M	ENSP00000358715:T215M	T	+	2	0	SORCS3	106592556	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.144000	0.71762	1.450000	0.47717	-0.251000	0.11542	ACG		0.463	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		27	20	0	0	0	1	0	27	20				
LRRIQ3	127255	broad.mit.edu	37	1	74575094	74575094	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:74575094A>G	ENST00000395089.1	-	4	850	c.851T>C	c.(850-852)cTt>cCt	p.L284P	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.L176P|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L284P			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	284										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCAATATGCAAGCTTTCCTTT	0.269																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(850-852)cTt>cCt		leucine-rich repeats and IQ motif containing 3							67.0	53.0	57.0					1																	74575094		1783	4044	5827	SO:0001583	missense	127255							g.chr1:74575094A>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.851T>C	1.37:g.74575094A>G	ENSP00000378524:p.Leu284Pro					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L284P|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.L176P|LRRIQ3_ENST00000468759.1_5'UTR	p.L284P	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	1042	-			284					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.851T>C	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240368	0.58995	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.37915	2.78;2.78;1.17	3.83	1.4	0.22301	.	2.025030	0.02764	N	0.118955	T	0.15609	0.0376	L	0.36672	1.1	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.09422	-1.0675	10	0.72032	D	0.01	.	4.4718	0.11715	0.5951:0.2066:0.0:0.1983	.	284	A6PVS8	LRIQ3_HUMAN	P	284;284;176;284	ENSP00000378524:L284P;ENSP00000346414:L284P;ENSP00000359946:L176P	ENSP00000346414:L284P	L	-	2	0	LRRIQ3	74347682	0.001000	0.12720	0.000000	0.03702	0.937000	0.57800	0.969000	0.29370	0.278000	0.22164	0.477000	0.44152	CTT		0.269	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		9	19	0	0	0	1	0	9	19				
SLC28A3	64078	broad.mit.edu	37	9	86903088	86903088	+	Silent	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:86903088T>C	ENST00000376238.4	-	12	1204	c.1155A>G	c.(1153-1155)ccA>ccG	p.P385P	SLC28A3_ENST00000537648.1_Silent_p.P316P|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	385					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	AGTGGGAGGATGGAACCTGCA	0.468																																					Ovarian(106;425 1539 34835 42413 43572)	ENST00000376238.4																			0				endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1153-1155)ccA>ccG		solute carrier family 28 (concentrative nucleoside transporter), member 3							131.0	130.0	130.0					9																	86903088		2203	4300	6503	SO:0001819	synonymous_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86903088T>C	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1155A>G	9.37:g.86903088T>C						SLC28A3_ENST00000537648.1_Silent_p.P316P|RP11-380F14.2_ENST00000419815.1_RNA	p.P385P	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN			12	1204	-			385					A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	c.1155A>G	CCDS6670.1																																																																																				0.468	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		39	34	0	0	0	1	0	39	34				
NFE2L3	9603	broad.mit.edu	37	7	26224617	26224617	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:26224617C>G	ENST00000056233.3	+	4	1558	c.1299C>G	c.(1297-1299)atC>atG	p.I433M		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	433					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCTCTGTCATCAAGTCTAATT	0.398																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1297-1299)atC>atG		nuclear factor, erythroid 2-like 3							123.0	129.0	127.0					7																	26224617		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224617C>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1299C>G	7.37:g.26224617C>G	ENSP00000056233:p.Ile433Met						p.I433M	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1558	+			433					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1299C>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	1.868	-0.461044	0.04508	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.29917	1.55	5.23	-1.49	0.08718	.	0.804728	0.11761	N	0.532113	T	0.14141	0.0342	N	0.14661	0.345	0.09310	N	1	B	0.20988	0.05	B	0.24541	0.054	T	0.24584	-1.0156	10	0.72032	D	0.01	0.0369	0.7838	0.01045	0.342:0.2476:0.2236:0.1868	.	433	Q9Y4A8	NF2L3_HUMAN	M	433;139	ENSP00000056233:I433M	ENSP00000056233:I433M	I	+	3	3	NFE2L3	26191142	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	0.223000	0.17719	-0.532000	0.06332	-0.218000	0.12543	ATC		0.398	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			46	70	0	0	0	1	0	46	70				
OR1K1	392392	broad.mit.edu	37	9	125562421	125562421	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:125562421C>G	ENST00000277309.2	+	1	52	c.20C>G	c.(19-21)tCt>tGt	p.S7C		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCAATGAGTCTTCAGAGGGA	0.522																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(19-21)tCt>tGt		olfactory receptor, family 1, subfamily K, member 1							56.0	55.0	56.0					9																	125562421		2203	4300	6503	SO:0001583	missense	392392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125562421C>G	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.20C>G	9.37:g.125562421C>G	ENSP00000277309:p.Ser7Cys						p.S7C	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	52	+			7					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.20C>G	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263831	0.59431	.	.	ENSG00000165204	ENST00000277309	T	0.00337	8.05	4.32	4.32	0.51571	.	0.000000	0.30446	U	0.009612	T	0.00241	0.0007	L	0.28054	0.825	0.80722	D	1	B	0.22414	0.069	B	0.22601	0.04	T	0.79988	-0.1571	10	0.87932	D	0	.	13.8218	0.63325	0.0:1.0:0.0:0.0	.	7	Q8NGR3	OR1K1_HUMAN	C	7	ENSP00000277309:S7C	ENSP00000277309:S7C	S	+	2	0	OR1K1	124602242	0.186000	0.23225	0.589000	0.28718	0.403000	0.30841	1.575000	0.36493	2.225000	0.72522	0.655000	0.94253	TCT		0.522	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			14	22	0	0	0	1	0	14	22				
KIAA1109	84162	broad.mit.edu	37	4	123117890	123117890	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:123117890T>A	ENST00000264501.4	+	12	1526	c.1153T>A	c.(1153-1155)Tta>Ata	p.L385I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L385I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L385I			Q2LD37	K1109_HUMAN	KIAA1109	385					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTTTTGAATTACGAATGAA	0.303																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(1153-1155)Tta>Ata		KIAA1109							119.0	112.0	114.0					4																	123117890		1808	4072	5880	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123117890T>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1153T>A	4.37:g.123117890T>A	ENSP00000264501:p.Leu385Ile					KIAA1109_ENST00000455637.1_Missense_Mutation_p.L385I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L385I	p.L385I			Q2LD37	K1109_HUMAN			12	1526	+			385					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.1153T>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.832|6.832	0.522664|0.522664	0.13066|0.13066	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.25250	.|2.41;2.41;1.81	5.66|5.66	3.91|3.91	0.45181|0.45181	.|.	.|7739.210000	.|0.00166	.|N	.|0.000000	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.05383|0.05383	-0.06|-0.06	0.42989|0.42989	D|D	0.994487|0.994487	.|D	.|0.69078	.|0.997	.|D	.|0.72625	.|0.978	T|T	0.54302|0.54302	-0.8314|-0.8314	5|10	.|0.09338	.|T	.|0.73	.|.	9.3257|9.3257	0.37990|0.37990	0.0:0.7758:0.0:0.2242|0.0:0.7758:0.0:0.2242	.|.	.|385	.|Q2LD37	.|K1109_HUMAN	N|I	217|385	.|ENSP00000264501:L385I;ENSP00000373390:L385I;ENSP00000389925:L385I	.|ENSP00000264501:L385I	I|L	+|+	2|1	0|2	KIAA1109|KIAA1109	123337340|123337340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.691000|2.691000	0.47010|0.47010	1.370000|1.370000	0.46153|0.46153	-0.242000|-0.242000	0.12053|0.12053	ATT|TTA		0.303	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		23	54	0	0	0	1	0	23	54				
PRX	57716	broad.mit.edu	37	19	40902620	40902620	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40902620G>C	ENST00000324001.7	-	7	1909	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	547	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E545_P549delEVQLP(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCAGCTGTACCTCTGGA	0.587																																						ENST00000324001.7																			1	Deletion - In frame(1)	p.E545_P549delEVQLP(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1639-1641)Cag>Gag		periaxin							80.0	92.0	88.0					19																	40902620		2201	4297	6498	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902620G>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1639C>G	19.37:g.40902620G>C	ENSP00000326018:p.Gln547Glu					PRX_ENST00000291825.7_3'UTR	p.Q547E	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1909	-			547			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1639C>G	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	2.235	-0.375097	0.05034	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01821	4.62	4.14	3.07	0.35406	.	.	.	.	.	T	0.02342	0.0072	M	0.68317	2.08	0.09310	N	0.999999	B	0.14438	0.01	B	0.15484	0.013	T	0.48969	-0.8987	9	0.10111	T	0.7	-17.7457	6.247	0.20825	0.1018:0.3702:0.5279:0.0	.	547	Q9BXM0	PRAX_HUMAN	E	547	ENSP00000326018:Q547E	ENSP00000326018:Q547E	Q	-	1	0	PRX	45594460	0.000000	0.05858	0.759000	0.31340	0.312000	0.27988	0.006000	0.13152	0.905000	0.36596	0.591000	0.81541	CAG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		5	269	0	0	0	1	0	5	269				
KMT2D	8085	broad.mit.edu	37	12	49444707	49444707	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:49444707G>C	ENST00000301067.7	-	10	2758	c.2759C>G	c.(2758-2760)tCt>tGt	p.S920C		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	920	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGCTCCCCAGATGGGGACAA	0.562																																						ENST00000301067.7																			0											c.(2758-2760)tCt>tGt		lysine (K)-specific methyltransferase 2D							70.0	75.0	73.0					12																	49444707		2043	4170	6213	SO:0001583	missense	8085							g.chr12:49444707G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2759C>G	12.37:g.49444707G>C	ENSP00000301067:p.Ser920Cys						p.S920C	NM_003482.3	NP_003473.3					10	2758	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2759C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	4.012	-0.000386	0.07819	.	.	ENSG00000167548	ENST00000301067	T	0.80214	-1.35	3.66	3.66	0.41972	.	.	.	.	.	T	0.62024	0.2394	N	0.08118	0	0.09310	N	0.999994	B	0.33379	0.41	B	0.30943	0.122	T	0.57142	-0.7862	9	0.87932	D	0	.	8.705	0.34349	0.0:0.0:0.7735:0.2265	.	920	O14686	MLL2_HUMAN	C	920	ENSP00000301067:S920C	ENSP00000301067:S920C	S	-	2	0	MLL2	47730974	0.636000	0.27207	0.324000	0.25361	0.793000	0.44817	0.129000	0.15830	2.347000	0.79759	0.563000	0.77884	TCT		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			50	84	0	0	0	1	0	50	84				
ZSCAN21	7589	broad.mit.edu	37	7	99654633	99654633	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:99654633A>G	ENST00000292450.4	+	2	168	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.M2V|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.M2V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	2					positive regulation of transcription, DNA-templated (GO:0045893)|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(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTTTACATGATGACCAAGGT	0.517																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(4-6)Atg>Gtg		zinc finger and SCAN domain containing 21							158.0	172.0	168.0					7																	99654633		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654633A>G	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.4A>G	7.37:g.99654633A>G	ENSP00000292450:p.Met2Val					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.M2V|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.M2V	p.M2V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	168	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		2					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.4A>G	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535393	0.45176	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.04970	4.3;3.52;4.3;4.33	5.43	5.43	0.79202	.	0.000000	0.45867	D	0.000334	T	0.12092	0.0294	N	0.24115	0.695	0.26554	N	0.973858	P;P	0.49447	0.924;0.811	P;P	0.60789	0.878;0.879	T	0.04115	-1.0976	10	0.87932	D	0	.	12.1682	0.54141	1.0:0.0:0.0:0.0	.	2;2	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	V	2	ENSP00000441212:M2V;ENSP00000292450:M2V;ENSP00000390960:M2V;ENSP00000404207:M2V	ENSP00000292450:M2V	M	+	1	0	ZSCAN21	99492569	1.000000	0.71417	0.970000	0.41538	0.523000	0.34469	2.739000	0.47409	2.197000	0.70478	0.533000	0.62120	ATG		0.517	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		88	221	0	0	0	1	0	88	221				
C1QBP	708	broad.mit.edu	37	17	5337061	5337061	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:5337061G>A	ENST00000225698.4	-	4	585	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Silent_p.F64F	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	168	Interaction with MAVS.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CTTCAACCACGAAATTGGGAG	0.468																																						ENST00000225698.4																			0				lung(2)|ovary(1)	3						c.(502-504)ttC>ttT		complement component 1, q subcomponent binding protein							163.0	146.0	152.0					17																	5337061		2203	4300	6503	SO:0001819	synonymous_variant	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5337061G>A	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.504C>T	17.37:g.5337061G>A						C1QBP_ENST00000574444.1_Silent_p.F64F	p.F168F	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN			4	585	-			168					Q2HXR8|Q9NNY8	Silent	SNP	ENST00000225698.4	37	c.504C>T	CCDS11071.1																																																																																				0.468	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		23	61	0	0	0	1	0	23	61				
ZNF791	163049	broad.mit.edu	37	19	12738613	12738613	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:12738613G>A	ENST00000343325.4	+	4	432	c.270G>A	c.(268-270)gtG>gtA	p.V90V	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Silent_p.V58V|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_Silent_p.*70*	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATCTCAGTGTGACGAAGAAGA	0.448																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(268-270)gtG>gtA		zinc finger protein 791							150.0	144.0	146.0					19																	12738613		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738613G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.270G>A	19.37:g.12738613G>A						ZNF791_ENST00000446165.1_Silent_p.*70*|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Silent_p.V58V|ZNF490_ENST00000465656.1_Intron	p.V90V	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	432	+			90			KRAB.		B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.270G>A	CCDS12273.1																																																																																				0.448	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		60	140	0	0	0	1	0	60	140				
GPR112	139378	broad.mit.edu	37	X	135429656	135429656	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:135429656C>T	ENST00000394143.1	+	6	4082	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	GPR112_ENST00000394141.1_Missense_Mutation_p.S1059F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1264F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1059F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1201F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1264					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGACCATATCCCTGGGAAAA	0.443																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3790-3792)tCc>tTc		G protein-coupled receptor 112							116.0	100.0	105.0					X																	135429656		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429656C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3791C>T	X.37:g.135429656C>T	ENSP00000377699:p.Ser1264Phe					GPR112_ENST00000412101.1_Missense_Mutation_p.S1059F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1059F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1264F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1201F	p.S1264F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4082	+	Acute lymphoblastic leukemia(192;0.000127)		1264					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3791C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	6.344	0.431564	0.12045	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35605	1.34;1.34;1.3;1.44;1.3	3.05	2.17	0.27698	.	.	.	.	.	T	0.38931	0.1059	L	0.29908	0.895	0.09310	N	1	D;P;D	0.64830	0.994;0.844;0.971	P;B;P	0.59889	0.865;0.202;0.543	T	0.14254	-1.0479	9	0.87932	D	0	.	6.1978	0.20559	0.0:0.8391:0.0:0.1609	.	1201;1059;1264	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1264;1264;1059;1201;1059	ENSP00000377699:S1264F;ENSP00000359686:S1264F;ENSP00000416526:S1059F;ENSP00000287534:S1201F;ENSP00000377697:S1059F	ENSP00000287534:S1201F	S	+	2	0	GPR112	135257322	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.080000	0.14802	0.455000	0.26910	-0.303000	0.09236	TCC		0.443	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			17	40	0	0	0	1	0	17	40				
CHD9	80205	broad.mit.edu	37	16	53289659	53289659	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:53289659G>C	ENST00000398510.3	+	18	4264	c.4177G>C	c.(4177-4179)Gaa>Caa	p.E1393Q	CHD9_ENST00000564845.1_Missense_Mutation_p.E1393Q|CHD9_ENST00000447540.1_Missense_Mutation_p.E1393Q|CHD9_ENST00000566029.1_Missense_Mutation_p.E1393Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1393					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATTACAATTGAATCAGAAGG	0.368																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(4177-4179)Gaa>Caa		chromodomain helicase DNA binding protein 9							186.0	177.0	180.0					16																	53289659		1858	4111	5969	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53289659G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4177G>C	16.37:g.53289659G>C	ENSP00000381522:p.Glu1393Gln					CHD9_ENST00000447540.1_Missense_Mutation_p.E1393Q|CHD9_ENST00000398510.3_Missense_Mutation_p.E1393Q|CHD9_ENST00000564845.1_Missense_Mutation_p.E1393Q	p.E1393Q			Q3L8U1	CHD9_HUMAN			19	4386	+		all_cancers(37;0.0212)	1393					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4177G>C		.	.	.	.	.	.	.	.	.	.	G	22.1	4.240719	0.79912	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.82711	-1.64;-1.64	5.56	4.6	0.57074	.	0.000000	0.56097	D	0.000025	D	0.88232	0.6381	L	0.50919	1.6	0.80722	D	1	P;P;D;D	0.67145	0.571;0.854;0.993;0.996	B;P;D;D	0.78314	0.408;0.832;0.979;0.991	D	0.87610	0.2503	10	0.40728	T	0.16	-18.7516	15.941	0.79754	0.0:0.0:0.864:0.136	.	919;1393;1393;1393	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Q	1393;1393;919	ENSP00000396345:E1393Q;ENSP00000381522:E1393Q	ENSP00000219084:E919Q	E	+	1	0	CHD9	51847160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.957000	0.87870	1.336000	0.45506	0.650000	0.86243	GAA		0.368	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		56	104	0	0	0	1	0	56	104				
PLCH2	9651	broad.mit.edu	37	1	2411336	2411336	+	Silent	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:2411336C>A	ENST00000419816.2	+	3	709	c.435C>A	c.(433-435)acC>acA	p.T145T	PLCH2_ENST00000449969.1_Silent_p.T118T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Silent_p.T145T|PLCH2_ENST00000378488.3_Silent_p.T145T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	145	Necessary for plasma membrane localization. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGCGCGCACCTGGGTCACTG	0.667																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(352-354)acC>acA		phospholipase C, eta 2							18.0	22.0	21.0					1																	2411336		2169	4246	6415	SO:0001819	synonymous_variant	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411336C>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.435C>A	1.37:g.2411336C>A						PLCH2_ENST00000378486.3_Silent_p.T145T|PLCH2_ENST00000419816.2_Silent_p.T145T|PLCH2_ENST00000378488.3_Silent_p.T145T|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron	p.T118T			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	3	515	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	145			Necessary for plasma membrane localization (By similarity).|PH.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Silent	SNP	ENST00000419816.2	37	c.354C>A																																																																																					0.667	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		21	58	1	0	1.64113e-05	1	1.666e-05	21	58				
ASXL1	171023	broad.mit.edu	37	20	31023208	31023208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:31023208G>A	ENST00000375687.4	+	13	3117	c.2693G>A	c.(2692-2694)tGg>tAg	p.W898*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.W893*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	898					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCTTTGCATTGGATACCCATC	0.473			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2692-2694)tGg>tAg		additional sex combs like 1 (Drosophila)							102.0	100.0	101.0					20																	31023208		2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023208G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2693G>A	20.37:g.31023208G>A	ENSP00000364839:p.Trp898*					ASXL1_ENST00000306058.5_Nonsense_Mutation_p.W893*	p.W898*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3117	+			898					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.2693G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	39	7.724724	0.98456	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.73	4.73	0.59995	.	0.746331	0.13617	N	0.374675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.1864	11.9645	0.53027	0.0:0.2302:0.7698:0.0	.	.	.	.	X	898;898;898;819;893	.	ENSP00000305119:W893X	W	+	2	0	ASXL1	30486869	0.849000	0.29639	0.353000	0.25747	0.004000	0.04260	1.602000	0.36783	2.610000	0.88304	0.650000	0.86243	TGG		0.473	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		43	76	0	0	0	1	0	43	76				
PLEC	5339	broad.mit.edu	37	8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:144999083C>T	ENST00000322810.4	-	31	5594	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K	PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1809	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGCGCCTCGCGCTCCGCC	0.726																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(5425-5427)Gag>Aag		plectin																																				SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144999083C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5425G>A	8.37:g.144999083C>T	ENSP00000323856:p.Glu1809Lys					PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K	p.E1809K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	5594	-			1809			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.5425G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825847	0.71143	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.2;-1.18;-1.25;-1.19;-1.21;-1.17;-1.17;-1.17;-1.2	4.71	4.71	0.59529	.	0.184464	0.33309	U	0.005060	D	0.86686	0.5992	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.995;0.995;0.995;0.991;0.995;0.995;1.0;0.995	P;P;P;P;P;P;D;P	0.76071	0.749;0.749;0.749;0.566;0.749;0.749;0.987;0.749	D	0.87305	0.2308	10	0.49607	T	0.09	.	17.273	0.87107	0.0:1.0:0.0:0.0	.	1699;1658;1650;1809;1640;1672;1676;1672	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1672;1676;1672;1640;1809;1650;1658;1699;1695	ENSP00000344848:E1672K;ENSP00000350277:E1676K;ENSP00000346602:E1672K;ENSP00000381756:E1640K;ENSP00000323856:E1809K;ENSP00000347044:E1650K;ENSP00000348702:E1658K;ENSP00000388180:E1699K;ENSP00000434583:E1695K	ENSP00000323856:E1809K	E	-	1	0	PLEC	145071071	1.000000	0.71417	0.933000	0.37362	0.739000	0.42172	5.728000	0.68531	2.166000	0.68216	0.542000	0.68232	GAG		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	23	0	0	0	1	0	7	23				
ASXL1	171023	broad.mit.edu	37	20	31023157	31023157	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:31023157G>C	ENST00000375687.4	+	13	3066	c.2642G>C	c.(2641-2643)aGa>aCa	p.R881T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R876T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	881				TRQ -> ASE (in Ref. 6; CAB56029). {ECO:0000305}.	bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R881fs*13(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTGATACTAGACAAGAAAAC	0.458			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		1	Insertion - Frameshift(1)	p.R881fs*13(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2641-2643)aGa>aCa		additional sex combs like 1 (Drosophila)							135.0	137.0	136.0					20																	31023157		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023157G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2642G>C	20.37:g.31023157G>C	ENSP00000364839:p.Arg881Thr					ASXL1_ENST00000306058.5_Missense_Mutation_p.R876T	p.R881T	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3066	+			881	TRQ -> ASE (in Ref. 6; CAB56029).				B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.2642G>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	8.702	0.910002	0.17833	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.15017	2.46;2.46	4.98	4.02	0.46733	.	1.124030	0.06300	N	0.700726	T	0.15522	0.0374	L	0.34521	1.04	0.09310	N	1	B;B	0.26002	0.139;0.005	B;B	0.19946	0.027;0.015	T	0.28038	-1.0056	10	0.15499	T	0.54	-0.18	13.4978	0.61436	0.0:0.0:0.8437:0.1563	.	876;881	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	T	881;881;881;802;876	ENSP00000364839:R881T;ENSP00000305119:R876T	ENSP00000305119:R876T	R	+	2	0	ASXL1	30486818	0.008000	0.16893	0.122000	0.21767	0.028000	0.11728	1.079000	0.30766	1.436000	0.47453	0.650000	0.86243	AGA		0.458	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		67	99	0	0	0	1	0	67	99				
KCND2	3751	broad.mit.edu	37	7	119915022	119915022	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:119915022C>T	ENST00000331113.4	+	1	1301	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	112					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACGAGTGCATCTCTGCTTACG	0.527																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(334-336)atC>atT		potassium voltage-gated channel, Shal-related subfamily, member 2							149.0	149.0	149.0					7																	119915022		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915022C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.336C>T	7.37:g.119915022C>T							p.I112I	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1301	+	all_neural(327;0.117)		112					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.336C>T	CCDS5776.1																																																																																				0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		72	152	0	0	0	1	0	72	152				
PCDHA9	9752	broad.mit.edu	37	5	140229785	140229785	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:140229785C>T	ENST00000532602.1	+	1	2738	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R569W|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACACCTCGGATGAGGGG	0.711																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1705-1707)Cgg>Tgg									57.0	62.0	60.0					5																	140229785		2196	4267	6463	SO:0001583	missense	9752							g.chr5:140229785C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1705C>T	5.37:g.140229785C>T	ENSP00000436042:p.Arg569Trp					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569W|PCDHA4_ENST00000530339.1_Intron	p.R569W	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2429	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1705C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	c	3.262	-0.151070	0.06585	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.64085	-0.08;-0.08	2.87	-2.21	0.06973	Cadherin-like (1);	0.808617	0.09411	U	0.805753	T	0.45013	0.1321	L	0.39898	1.24	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.09377	0.004;0.001	T	0.38478	-0.9659	10	0.56958	D	0.05	.	1.9555	0.03375	0.133:0.3904:0.2967:0.1799	.	569;569	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	W	569	ENSP00000436042:R569W;ENSP00000367362:R569W	ENSP00000367362:R569W	R	+	1	2	PCDHA9	140209969	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.873000	0.04214	-0.264000	0.09365	-0.678000	0.03780	CGG		0.711	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		63	105	0	0	0	1	0	63	105				
FOXN2	3344	broad.mit.edu	37	2	48573745	48573745	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:48573745A>C	ENST00000340553.3	+	3	653	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	131					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCTCCAAATAAATGTTTGCCT	0.408																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(391-393)aAa>aCa		forkhead box N2							123.0	137.0	132.0					2																	48573745		2203	4299	6502	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573745A>C		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.392A>C	2.37:g.48573745A>C	ENSP00000343633:p.Lys131Thr						p.K131T	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	653	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	131					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.392A>C	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816900	0.70912	.	.	ENSG00000170802	ENST00000413569;ENST00000304367;ENST00000340553	D;D	0.96334	-3.98;-3.98	5.28	5.28	0.74379	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98988	1.0807	10	0.40728	T	0.16	.	15.0203	0.71624	1.0:0.0:0.0:0.0	.	131	P32314	FOXN2_HUMAN	T	131;40;131	ENSP00000388486:K131T;ENSP00000343633:K131T	ENSP00000305685:K40T	K	+	2	0	FOXN2	48427249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.212000	0.71576	0.482000	0.46254	AAA		0.408	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		63	139	0	0	0	1	0	63	139				
MYOM1	8736	broad.mit.edu	37	18	3176073	3176073	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:3176073C>T	ENST00000356443.4	-	6	1322	c.989G>A	c.(988-990)aGt>aAt	p.S330N	MYOM1_ENST00000400569.3_Missense_Mutation_p.S330N|MYOM1_ENST00000261606.7_Missense_Mutation_p.S330N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	330	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCATATCGACTCTCAATAAT	0.408																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(988-990)aGt>aAt		myomesin 1							111.0	108.0	109.0					18																	3176073		1931	4125	6056	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3176073C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.989G>A	18.37:g.3176073C>T	ENSP00000348821:p.Ser330Asn					MYOM1_ENST00000261606.7_Missense_Mutation_p.S330N|MYOM1_ENST00000400569.3_Missense_Mutation_p.S330N	p.S330N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			6	1322	-			330			Ig-like C2-type 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.989G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	.	16.42	3.117094	0.56505	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.66460	-0.21;-0.21;-0.21	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.040599	0.85682	D	0.000000	T	0.53270	0.1786	N	0.20328	0.56	0.37933	D	0.932062	B;B	0.19935	0.009;0.04	B;B	0.28709	0.045;0.093	T	0.51624	-0.8682	10	0.15952	T	0.53	.	15.43	0.75084	0.0:0.9322:0.0:0.0678	.	330;330	P52179-2;P52179	.;MYOM1_HUMAN	N	330	ENSP00000348821:S330N;ENSP00000383413:S330N;ENSP00000261606:S330N	ENSP00000261606:S330N	S	-	2	0	MYOM1	3166073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.418000	0.59828	2.793000	0.96121	0.655000	0.94253	AGT		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		6	33	0	0	0	1	0	6	33				
FBXL14	144699	broad.mit.edu	37	12	1702312	1702312	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:1702312G>C	ENST00000339235.3	-	1	1019	c.921C>G	c.(919-921)ctC>ctG	p.L307L	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	307					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			AGAGAGACTTGAGGCCATCCA	0.602																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(919-921)ctC>ctG		F-box and leucine-rich repeat protein 14							97.0	79.0	85.0					12																	1702312		2203	4300	6503	SO:0001819	synonymous_variant	144699					cytoplasm		g.chr12:1702312G>C	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.921C>G	12.37:g.1702312G>C						WNT5B_ENST00000537031.1_Intron	p.L307L	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	1019	-	Ovarian(42;0.107)		307						Silent	SNP	ENST00000339235.3	37	c.921C>G	CCDS8509.1																																																																																				0.602	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		4	105	0	0	0	1	0	4	105				
MAGI3	260425	broad.mit.edu	37	1	114165595	114165595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:114165595C>T	ENST00000307546.9	+	9	1414	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q472*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q447*|MAGI3_ENST00000369615.1_Nonsense_Mutation_p.Q447*	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	472	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCGCAGCTCAGGATGGGAA	0.328																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1339-1341)Cag>Tag		membrane associated guanylate kinase, WW and PDZ domain containing 3							52.0	50.0	51.0					1																	114165595		2203	4300	6503	SO:0001587	stop_gained	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114165595C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1339C>T	1.37:g.114165595C>T	ENSP00000304604:p.Gln447*					MAGI3_ENST00000307546.9_Nonsense_Mutation_p.Q447*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q472*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q447*	p.Q447*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1401	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	472			Interaction with PTEN.|PDZ 2.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Nonsense_Mutation	SNP	ENST00000307546.9	37	c.1339C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	39	7.883888	0.98542	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	.	.	.	5.68	5.68	0.88126	.	0.149996	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.6954	19.7821	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	472;447;447;447	.	ENSP00000304604:Q447X	Q	+	1	0	MAGI3	113967118	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.710000	0.68392	2.682000	0.91365	0.655000	0.94253	CAG		0.328	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		13	15	0	0	0	1	0	13	15				
BCL6B	255877	broad.mit.edu	37	17	6927606	6927606	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6927606C>A	ENST00000293805.5	+	3	476	c.384C>A	c.(382-384)caC>caA	p.H128Q	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	128					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						AGGCATGCCACCGCTTCATCC	0.592																																						ENST00000293805.5																			0				skin(1)	1						c.(382-384)caC>caA		B-cell CLL/lymphoma 6, member B							47.0	52.0	50.0					17																	6927606		2126	4236	6362	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6927606C>A	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.384C>A	17.37:g.6927606C>A	ENSP00000293805:p.His128Gln					BCL6B_ENST00000572216.1_3'UTR	p.H128Q	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			3	476	+			128					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.384C>A	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569327	0.45798	.	.	ENSG00000161940	ENST00000293805	T	0.66280	-0.2	5.18	4.21	0.49690	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.061418	0.64402	D	0.000005	T	0.29976	0.0750	N	0.02120	-0.675	0.28983	N	0.888548	P	0.34934	0.476	B	0.29267	0.1	T	0.22661	-1.0210	10	0.62326	D	0.03	.	6.8945	0.24249	0.0:0.7302:0.1776:0.0922	.	128	Q8N143	BCL6B_HUMAN	Q	128	ENSP00000293805:H128Q	ENSP00000293805:H128Q	H	+	3	2	BCL6B	6868330	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.625000	0.24477	1.412000	0.46977	0.563000	0.77884	CAC		0.592	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		89	36	1	0	1.68737e-39	1	1.88423e-39	89	36				
MUC16	94025	broad.mit.edu	37	19	9071094	9071094	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:9071094G>C	ENST00000397910.4	-	3	16555	c.16352C>G	c.(16351-16353)cCt>cGt	p.P5451R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5453	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCATCAGAGGTGTGGCTTT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16351-16353)cCt>cGt		mucin 16, cell surface associated							203.0	197.0	199.0					19																	9071094		2083	4206	6289	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071094G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16352C>G	19.37:g.9071094G>C	ENSP00000381008:p.Pro5451Arg						p.P5451R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16555	-			5453			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16352C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.624	-0.287984	0.05605	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.51	-3.4	0.04853	.	.	.	.	.	T	0.09291	0.0229	N	0.14661	0.345	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.32214	-0.9915	8	0.87932	D	0	.	1.3143	0.02104	0.1289:0.18:0.3609:0.3302	.	5451	B5ME49	.	R	5451	ENSP00000381008:P5451R	ENSP00000381008:P5451R	P	-	2	0	MUC16	8932094	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.980000	0.03770	-0.573000	0.05998	-0.643000	0.03959	CCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	223	0	0	0	1	0	4	223				
HERC2	8924	broad.mit.edu	37	15	28380751	28380751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:28380751G>A	ENST00000261609.7	-	79	12211	c.12103C>T	c.(12103-12105)Cag>Tag	p.Q4035*		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACACATGCTGAATGGATTCA	0.483																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12103-12105)Cag>Tag		HECT and RLD domain containing E3 ubiquitin protein ligase 2							106.0	100.0	102.0					15																	28380751		2203	4300	6503	SO:0001587	stop_gained	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28380751G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12103C>T	15.37:g.28380751G>A	ENSP00000261609:p.Gln4035*						p.Q4035*	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	79	12211	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4035						Nonsense_Mutation	SNP	ENST00000261609.7	37	c.12103C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	54	22.294975	0.99947	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.36	5.36	0.76844	.	0.124811	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4526	0.94873	0.0:0.0:1.0:0.0	.	.	.	.	X	4035	.	ENSP00000261609:Q4035X	Q	-	1	0	HERC2	26054346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.795000	0.99099	2.670000	0.90874	0.563000	0.77884	CAG		0.483	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		33	61	0	0	0	1	0	33	61				
NFIX	4784	broad.mit.edu	37	19	13136140	13136140	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:13136140G>A	ENST00000592199.1	+	2	333	c.333G>A	c.(331-333)aaG>aaA	p.K111K	NFIX_ENST00000397661.2_Silent_p.K111K|NFIX_ENST00000358552.3_Silent_p.K110K|NFIX_ENST00000360105.4_Silent_p.K114K|NFIX_ENST00000588228.1_Silent_p.K64K|NFIX_ENST00000587260.1_Silent_p.K110K|NFIX_ENST00000585575.1_Silent_p.K103K|NFIX_ENST00000587760.1_Silent_p.K103K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	111					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K111K(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGACCAGAAGGGCAAGATCC	0.617																																						ENST00000358552.3																			2	Substitution - coding silent(2)	p.K111K(2)	lung(2)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(328-330)aaG>aaA		nuclear factor I/X (CCAAT-binding transcription factor)							47.0	47.0	47.0					19																	13136140		2203	4300	6503	SO:0001819	synonymous_variant	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13136140G>A	U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.333G>A	19.37:g.13136140G>A						NFIX_ENST00000587760.1_Silent_p.K103K|NFIX_ENST00000587260.1_Silent_p.K110K|NFIX_ENST00000397661.2_Silent_p.K111K|NFIX_ENST00000585575.1_Silent_p.K103K|NFIX_ENST00000360105.4_Silent_p.K114K|NFIX_ENST00000592199.1_Silent_p.K111K|NFIX_ENST00000588228.1_Silent_p.K64K	p.K110K			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		1	330	+			111					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Silent	SNP	ENST00000592199.1	37	c.330G>A																																																																																					0.617	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		29	49	0	0	0	1	0	29	49				
TFAP2A	7020	broad.mit.edu	37	6	10398657	10398657	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:10398657C>T	ENST00000482890.1	-	8	1659	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	TFAP2A_ENST00000497266.1_5'Flank|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R430K|TFAP2A_ENST00000379613.3_Missense_Mutation_p.R438K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R432K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R436K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	436					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCTCACTTTCTGTGCTTCTC	0.637																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1312-1314)aGa>aAa		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							215.0	222.0	220.0					6																	10398657		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10398657C>T	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1307G>A	6.37:g.10398657C>T	ENSP00000418541:p.Arg436Lys					TFAP2A_ENST00000482890.1_Missense_Mutation_p.R436K|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R430K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R436K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R432K	p.R438K			P05549	AP2A_HUMAN			7	1569	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	436					Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.1313G>A	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262404	0.59431	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97888	-4.57;-4.56;-4.59;-4.59;-4.56	5.23	5.23	0.72850	.	0.045393	0.85682	D	0.000000	D	0.96411	0.8829	M	0.79475	2.455	0.58432	D	0.999999	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.17979	0.001;0.001;0.02	D	0.94396	0.7618	10	0.87932	D	0	-6.7242	18.8138	0.92070	0.0:1.0:0.0:0.0	.	432;436;430	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	K	438;436;432;430;436	ENSP00000368933:R438K;ENSP00000368924:R436K;ENSP00000316516:R432K;ENSP00000368928:R430K;ENSP00000418541:R436K	ENSP00000316516:R432K	R	-	2	0	TFAP2A	10506643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	2.450000	0.82876	0.655000	0.94253	AGA		0.637	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		130	203	0	0	0	1	0	130	203				
OBP2B	29989	broad.mit.edu	37	9	136083938	136083938	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:136083938C>T	ENST00000372034.3	-	2	165	c.124G>A	c.(124-126)Gag>Aag	p.E42K	OBP2B_ENST00000461961.1_Intron|OBP2B_ENST00000372032.2_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	42					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CTCCTGTCCTCCGGAAAGTCC	0.607																																						ENST00000372034.3																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(124-126)Gag>Aag		odorant binding protein 2B							57.0	55.0	55.0					9																	136083938		2203	4296	6499	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136083938C>T	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.124G>A	9.37:g.136083938C>T	ENSP00000361104:p.Glu42Lys					OBP2B_ENST00000372032.2_Intron|OBP2B_ENST00000461961.1_Intron	p.E42K	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	2	165	-			42					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.124G>A	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.232021	0.22626	.	.	ENSG00000171102	ENST00000372034	T	0.09630	2.96	2.31	-4.6	0.03390	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.109350	0.07026	N	0.827587	T	0.06325	0.0163	L	0.35854	1.095	0.09310	N	1	P	0.35982	0.531	B	0.34346	0.18	T	0.34054	-0.9844	10	0.17369	T	0.5	-2.5056	3.1393	0.06450	0.2035:0.4287:0.0:0.3678	.	42	Q9NPH6	OBP2B_HUMAN	K	42	ENSP00000361104:E42K	ENSP00000361104:E42K	E	-	1	0	OBP2B	135073759	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.193000	0.09573	-1.118000	0.02961	-0.350000	0.07774	GAG		0.607	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		14	14	0	0	0	1	0	14	14				
WDR81	124997	broad.mit.edu	37	17	1639389	1639389	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:1639389C>T	ENST00000409644.1	+	9	5382	c.5382C>T	c.(5380-5382)atC>atT	p.I1794I	WDR81_ENST00000419248.1_Silent_p.I567I|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.I425I|WDR81_ENST00000446363.1_Silent_p.I433I|WDR81_ENST00000309182.5_Silent_p.I743I|WDR81_ENST00000437219.2_Silent_p.I591I	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1794					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGGCCATCAGCCCCAGTG	0.677																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(5380-5382)atC>atT		WD repeat domain 81							59.0	55.0	56.0					17																	1639389		2202	4298	6500	SO:0001819	synonymous_variant	124997							g.chr17:1639389C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5382C>T	17.37:g.1639389C>T						WDR81_ENST00000446363.1_Silent_p.I433I|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.I567I|WDR81_ENST00000309182.5_Silent_p.I743I|WDR81_ENST00000437219.2_Silent_p.I591I|WDR81_ENST00000545662.1_Silent_p.I425I	p.I1794I	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	9	5382	+			567					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.5382C>T	CCDS54062.1																																																																																				0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		29	64	0	0	0	1	0	29	64				
ARID1A	8289	broad.mit.edu	37	1	27058000	27058000	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:27058000C>A	ENST00000324856.7	+	3	2079	c.1708C>A	c.(1708-1710)Ccc>Acc	p.P570T	ARID1A_ENST00000457599.2_Missense_Mutation_p.P570T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P187T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	570					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCCAGCACCCTCGACGCT	0.637			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1708-1710)Ccc>Acc		AT rich interactive domain 1A (SWI-like)							159.0	160.0	160.0					1																	27058000		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058000C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1708C>A	1.37:g.27058000C>A	ENSP00000320485:p.Pro570Thr					ARID1A_ENST00000457599.2_Missense_Mutation_p.P570T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P187T	p.P570T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2079	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	570					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1708C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840674	0.32513	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02763	4.44;4.17;4.23	5.31	4.19	0.49359	.	0.459170	0.23766	N	0.044775	T	0.01454	0.0047	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.53034	-0.8495	10	0.18276	T	0.48	-5.0723	3.7513	0.08568	0.154:0.2614:0.0:0.5846	.	570;570;224	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	T	570;570;187	ENSP00000320485:P570T;ENSP00000387636:P570T;ENSP00000363267:P187T	ENSP00000320485:P570T	P	+	1	0	ARID1A	26930587	0.884000	0.30299	1.000000	0.80357	0.994000	0.84299	0.637000	0.24659	1.039000	0.40074	0.563000	0.77884	CCC		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		109	238	1	0	3.77807e-37	1	4.20134e-37	109	238				
LPIN1	23175	broad.mit.edu	37	2	11911569	11911569	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:11911569G>A	ENST00000256720.2	+	4	453	c.360G>A	c.(358-360)ctG>ctA	p.L120L	LPIN1_ENST00000396098.1_Silent_p.L126L|LPIN1_ENST00000449576.2_Silent_p.L169L|LPIN1_ENST00000396099.1_Silent_p.L126L|LPIN1_ENST00000425416.2_Silent_p.L126L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	120					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AATGCCAGCTGAAAAGGGGCT	0.532																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(358-360)ctG>ctA		lipin 1							56.0	59.0	58.0					2																	11911569		2203	4300	6503	SO:0001819	synonymous_variant	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11911569G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.360G>A	2.37:g.11911569G>A						LPIN1_ENST00000425416.2_Silent_p.L126L|LPIN1_ENST00000449576.2_Silent_p.L169L|LPIN1_ENST00000396099.1_Silent_p.L126L|LPIN1_ENST00000396098.1_Silent_p.L126L	p.L120L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	4	453	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		120					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	c.360G>A	CCDS1682.1																																																																																				0.532	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		19	38	0	0	0	1	0	19	38				
S100A7	6278	broad.mit.edu	37	1	153431471	153431471	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:153431471C>G	ENST00000368723.3	-	2	129	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	S100A7_ENST00000368722.1_Missense_Mutation_p.E7Q	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	7					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGACCTCTCAGCTTGAGTG	0.408																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(19-21)Gag>Cag		S100 calcium binding protein A7							251.0	218.0	229.0					1																	153431471		2203	4298	6501	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153431471C>G	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.19G>C	1.37:g.153431471C>G	ENSP00000357712:p.Glu7Gln					S100A7_ENST00000368722.1_Missense_Mutation_p.E7Q	p.E7Q	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	129	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		7					Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.19G>C	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	13.54	2.266682	0.40095	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.22945	1.93;1.93	1.89	1.89	0.25635	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.28962	0.0719	L	0.58810	1.83	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.02774	-1.1112	9	0.87932	D	0	.	7.3457	0.26662	0.0:1.0:0.0:0.0	.	7	P31151	S10A7_HUMAN	Q	7	ENSP00000357712:E7Q;ENSP00000357711:E7Q	ENSP00000357711:E7Q	E	-	1	0	S100A7	151698095	0.001000	0.12720	0.015000	0.15790	0.230000	0.25150	0.376000	0.20535	1.405000	0.46838	0.194000	0.17425	GAG		0.408	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		43	79	0	0	0	1	0	43	79				
ACOXL	55289	broad.mit.edu	37	2	111691212	111691212	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:111691212G>C	ENST00000389811.4	+	12	1276	c.1052G>C	c.(1051-1053)gGa>gCa	p.G351A	ACOXL_ENST00000439055.1_Missense_Mutation_p.G351A			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	351					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GAGTGCACTGGAGGCATGGTG	0.652																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(1051-1053)gGa>gCa		acyl-CoA oxidase-like							24.0	25.0	24.0					2																	111691212		2203	4299	6502	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111691212G>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1052G>C	2.37:g.111691212G>C	ENSP00000374461:p.Gly351Ala					ACOXL_ENST00000439055.1_Missense_Mutation_p.G351A	p.G351A			Q9NUZ1	ACOXL_HUMAN			12	1276	+			351					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.1052G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.74|19.74	3.883061|3.883061	0.72410|0.72410	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000433706|ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	.|D;D;D	.|0.97016	.|-4.21;-4.21;-4.21	5.55|5.55	4.64|4.64	0.57946|0.57946	.|Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.98598|0.98598	0.9531|0.9531	H|H	0.95745|0.95745	3.715|3.715	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	D|D	0.99044|0.99044	1.0825|1.0825	5|10	.|0.87932	.|D	.|0	-24.2278|-24.2278	14.3191|14.3191	0.66473|0.66473	0.0:0.1484:0.8516:0.0|0.0:0.1484:0.8516:0.0	.|.	.|351;351;351	.|E9PB20;Q9NUZ1-2;Q9NUZ1	.|.;.;ACOXL_HUMAN	Q|A	87|351;351;202;189	.|ENSP00000374461:G351A;ENSP00000407761:G351A;ENSP00000387832:G189A	.|ENSP00000374461:G351A	E|G	+|+	1|2	0|0	ACOXL|ACOXL	111407683|111407683	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.770000|0.770000	0.43624|0.43624	4.225000|4.225000	0.58600|0.58600	2.631000|2.631000	0.89168|0.89168	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.652	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		4	16	0	0	0	1	0	4	16				
CASP8AP2	9994	broad.mit.edu	37	6	90578437	90578437	+	RNA	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:90578437G>C	ENST00000551025.1	+	0	6865									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTAAAAAAAGATGAGTTAAA	0.378																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							51.0	49.0	49.0					6																	90578437		1838	4094	5932			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90578437G>C	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578437G>C										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	6865	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	SNP	ENST00000551025.1	37																																																																																						0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		12	31	0	0	0	1	0	12	31				
MAGEC1	9947	broad.mit.edu	37	X	140994683	140994683	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:140994683C>A	ENST00000285879.4	+	4	1779	c.1493C>A	c.(1492-1494)tCc>tAc	p.S498Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	498										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGTGT	0.498										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1492-1494)tCc>tAc		melanoma antigen family C, 1							117.0	128.0	125.0					X																	140994683		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994683C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1493C>A	X.37:g.140994683C>A	ENSP00000285879:p.Ser498Tyr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S498Y	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1779	+	Acute lymphoblastic leukemia(192;6.56e-05)		498					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1493C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	N	7.578	0.668134	0.14710	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	.	.	.	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.34177	D	0.670443	B	0.17038	0.02	B	0.06405	0.002	T	0.38436	-0.9661	8	0.87932	D	0	.	2.9007	0.05705	0.4932:0.5063:2.0E-4:2.0E-4	.	498	O60732	MAGC1_HUMAN	Y	498	ENSP00000285879:S498Y	ENSP00000285879:S498Y	S	+	2	0	MAGEC1	140822349	0.009000	0.17119	0.037000	0.18230	0.037000	0.13140	0.931000	0.28871	0.147000	0.19030	0.149000	0.16113	TCC		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		94	44	1	0	4.08182e-41	1	4.57711e-41	94	44				
FREM1	158326	broad.mit.edu	37	9	14784497	14784497	+	Missense_Mutation	SNP	C	C	T	rs368346957		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:14784497C>T	ENST00000380880.3	-	24	5096	c.4313G>A	c.(4312-4314)cGa>cAa	p.R1438Q	FREM1_ENST00000422223.2_Missense_Mutation_p.R1438Q|FREM1_ENST00000380881.4_Missense_Mutation_p.R1439Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1438					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGGCCATATCGCGGAGGGGA	0.488																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4315-4317)cGa>cAa		FRAS1 related extracellular matrix 1		C	GLN/ARG	1,4001		0,1,2000	107.0	104.0	105.0		4313	-11.1	0.0	9		105	0,8302		0,0,4151	no	missense	FREM1	NM_144966.5	43	0,1,6151	TT,TC,CC		0.0,0.025,0.0081	benign	1438/2180	14784497	1,12303	2001	4151	6152	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14784497C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4313G>A	9.37:g.14784497C>T	ENSP00000370262:p.Arg1438Gln					FREM1_ENST00000380880.3_Missense_Mutation_p.R1438Q|FREM1_ENST00000422223.2_Missense_Mutation_p.R1438Q	p.R1439Q			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5131	-			1438					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4316G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	2.664	-0.279021	0.05642	2.5E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46063	0.88;0.88;0.88	5.53	-11.1	0.00147	.	0.874201	0.09998	N	0.728899	T	0.17534	0.0421	N	0.04320	-0.23	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.49495	-0.8934	10	0.05620	T	0.96	0.7918	22.5646	0.99973	0.0:0.1717:0.0:0.8283	.	1438	Q5H8C1	FREM1_HUMAN	Q	1439;1438;1438	ENSP00000370263:R1439Q;ENSP00000412940:R1438Q;ENSP00000370262:R1438Q	ENSP00000370262:R1438Q	R	-	2	0	FREM1	14774497	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.338000	0.07842	-3.098000	0.00245	-1.094000	0.02160	CGA		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		11	17	0	0	0	1	0	11	17				
GDF7	151449	broad.mit.edu	37	2	20871119	20871119	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:20871119C>T	ENST00000272224.3	+	2	1863	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	429					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTACATCGACGCCGCCAACA	0.667																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(1285-1287)gaC>gaT		growth differentiation factor 7							39.0	36.0	37.0					2																	20871119		2203	4300	6503	SO:0001819	synonymous_variant	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20871119C>T	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1287C>T	2.37:g.20871119C>T							p.D429D	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1863	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		429						Silent	SNP	ENST00000272224.3	37	c.1287C>T	CCDS1701.1																																																																																				0.667	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		13	30	0	0	0	1	0	13	30				
APBB1	322	broad.mit.edu	37	11	6414491	6414491	+	IGR	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:6414491C>T	ENST00000609360.1	-	0	2642				SMPD1_ENST00000342245.4_Silent_p.L379L|SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000527275.1_Silent_p.L378L|SMPD1_ENST00000299397.3_Intron|APBB1_ENST00000526240.1_5'Flank	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTCTCCGCCTCATCTCTCTCA	0.512																																					GBM(147;1810 2556 5672 39622)	ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(1135-1137)ctC>ctT		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						69.0	72.0	71.0					11																	6414491		1889	4114	6003	SO:0001628	intergenic_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6414491C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6414491C>T						SMPD1_ENST00000527275.1_Silent_p.L378L|SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000356761.2_Intron	p.L379L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	1305	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	377		S -> P (in NPDB).			A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.1137C>T																																																																																					0.512	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		14	15	0	0	0	1	0	14	15				
CACNA1B	774	broad.mit.edu	37	9	140970298	140970298	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:140970298G>T	ENST00000371372.1	+	35	5030	c.4885G>T	c.(4885-4887)Gac>Tac	p.D1629Y	CACNA1B_ENST00000371365.2_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1628Y|CACNA1B_ENST00000277549.5_Missense_Mutation_p.D823Y|CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1630Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1627Y	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1629					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGGATGATGACACCAGCAT	0.577																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2467-2469)Gac>Tac		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						56.0	60.0	59.0					9																	140970298		1983	4168	6151	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140970298G>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4885G>T	9.37:g.140970298G>T	ENSP00000360423:p.Asp1629Tyr					CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1627Y|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1630Y|CACNA1B_ENST00000371365.2_5'UTR|CACNA1B_ENST00000371372.1_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1628Y	p.D823Y			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	35	5036	+	all_cancers(76;0.166)		1629					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2467G>T	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905501	0.72868	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	5.23	5.23	0.72850	.	0.176339	0.49305	D	0.000145	D	0.98741	0.9577	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	D	0.99556	1.0967	10	0.54805	T	0.06	.	19.1693	0.93570	0.0:0.0:1.0:0.0	.	1628;1627	B1AQK7;B1AQK6	.;.	Y	1629;1629;823;1627;1628;1630	ENSP00000360423:D1629Y;ENSP00000277551:D1629Y;ENSP00000277549:D823Y;ENSP00000360414:D1627Y;ENSP00000360408:D1628Y;ENSP00000360406:D1630Y	ENSP00000277549:D823Y	D	+	1	0	CACNA1B	140090119	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	9.669000	0.98622	2.607000	0.88179	0.655000	0.94253	GAC		0.577	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		9	12	1	0	0.000673444	1	0.000673444	9	12				
COX19	90639	broad.mit.edu	37	7	1015140	1015140	+	Silent	SNP	C	C	G	rs377326731		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:1015140C>G	ENST00000344111.3	-	1	95	c.6G>C	c.(4-6)tcG>tcC	p.S2S		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	2						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCATGGCGGTCGACATGTTGG	0.706																																						ENST00000344111.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(4-6)tcG>tcC		cytochrome c oxidase assembly homolog 19 (S. cerevisiae)							21.0	22.0	22.0					7																	1015140		2203	4299	6502	SO:0001819	synonymous_variant	90639					cytosol		g.chr7:1015140C>G	AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.6G>C	7.37:g.1015140C>G							p.S2S	NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)	1	95	-		Ovarian(82;0.0112)	2					A4FTX0	Silent	SNP	ENST00000344111.3	37	c.6G>C	CCDS34582.1																																																																																				0.706	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322812.1	NM_001031617		12	26	0	0	0	1	0	12	26				
ZNF521	25925	broad.mit.edu	37	18	22806267	22806267	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:22806267G>T	ENST00000361524.3	-	4	1763	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	ZNF521_ENST00000584787.1_Missense_Mutation_p.L319I|ZNF521_ENST00000538137.2_Missense_Mutation_p.L539I|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	539					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGCCACTGAGGTCACAATGA	0.433			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1615-1617)Ctc>Atc		zinc finger protein 521							79.0	86.0	83.0					18																	22806267		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806267G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1615C>A	18.37:g.22806267G>T	ENSP00000354794:p.Leu539Ile					ZNF521_ENST00000538137.2_Missense_Mutation_p.L539I|ZNF521_ENST00000584787.1_Missense_Mutation_p.L319I	p.L539I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1763	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		539					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1615C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	8.566	0.878910	0.17395	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08720	3.06;3.09	5.87	5.87	0.94306	.	0.251481	0.40469	N	0.001097	T	0.05364	0.0142	N	0.08118	0	0.27829	N	0.941517	B	0.28552	0.215	B	0.23018	0.043	T	0.32693	-0.9897	10	0.39692	T	0.17	-26.1173	15.6754	0.77316	0.0:0.1363:0.8637:0.0	.	539	Q96K83	ZN521_HUMAN	I	539;573;539	ENSP00000354794:L539I;ENSP00000382352:L539I	ENSP00000354794:L539I	L	-	1	0	ZNF521	21060265	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.861000	0.56002	2.778000	0.95560	0.650000	0.86243	CTC		0.433	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		27	84	1	0	9.80776e-20	1	1.06849e-19	27	84				
U2SURP	23350	broad.mit.edu	37	3	142735173	142735173	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:142735173G>C	ENST00000473835.2	+	5	486	c.396G>C	c.(394-396)gtG>gtC	p.V132V	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Silent_p.V132V	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	132					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GTAATAAAGTGAAAACATTTG	0.348																																						ENST00000473835.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(394-396)gtG>gtC		U2 snRNP-associated SURP domain containing							168.0	163.0	164.0					3																	142735173		1841	4095	5936	SO:0001819	synonymous_variant	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142735173G>C	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.396G>C	3.37:g.142735173G>C						U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Silent_p.V132V	p.V132V	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN			5	486	+			132					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Silent	SNP	ENST00000473835.2	37	c.396G>C	CCDS46928.1																																																																																				0.348	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		47	163	0	0	0	1	0	47	163				
ADRA2C	152	broad.mit.edu	37	4	3768691	3768691	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:3768691G>C	ENST00000330055.5	+	1	567	c.358G>C	c.(358-360)Ggg>Cgg	p.G120R	ADRA2C_ENST00000509482.1_Missense_Mutation_p.G120R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	120					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGTACTTCGGGCAGGTGTG	0.622																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(358-360)Ggg>Cgg		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						69.0	70.0	70.0					4																	3768691		2203	4300	6503	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768691G>C	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.358G>C	4.37:g.3768691G>C	ENSP00000386069:p.Gly120Arg					ADRA2C_ENST00000509482.1_Missense_Mutation_p.G120R	p.G120R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	567	+			120					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.358G>C	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283436	0.23392	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.50548	0.74;0.74	3.08	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68933	0.3055	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70659	-0.4811	9	0.24483	T	0.36	.	13.2636	0.60120	0.0:0.0:1.0:0.0	.	120;120	D6RGL0;P18825	.;ADA2C_HUMAN	R	120	ENSP00000426268:G120R;ENSP00000386069:G120R	ENSP00000386069:G120R	G	+	1	0	ADRA2C	3738489	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	6.479000	0.73600	1.558000	0.49541	0.462000	0.41574	GGG		0.622	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		14	26	0	0	0	1	0	14	26				
C5	727	broad.mit.edu	37	9	123751969	123751969	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:123751969C>T	ENST00000223642.1	-	24	3060	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1011					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTCATCAGCTCCGCCTCTGCA	0.433																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(3031-3033)Gag>Aag		complement component 5	Eculizumab(DB01257)						77.0	75.0	76.0					9																	123751969		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123751969C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3031G>A	9.37:g.123751969C>T	ENSP00000223642:p.Glu1011Lys						p.E1011K	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	24	3060	-			1011					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3031G>A	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196890	0.94960	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.38077	1.16	6.06	6.06	0.98353	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.094387	0.64402	N	0.000001	T	0.62841	0.2461	M	0.80847	2.515	0.50813	D	0.999897	D	0.89917	1.0	D	0.70487	0.969	T	0.61691	-0.7011	10	0.46703	T	0.11	.	17.3401	0.87293	0.0:1.0:0.0:0.0	.	1011	P01031	CO5_HUMAN	K	1011;1082	ENSP00000223642:E1011K	ENSP00000223642:E1011K	E	-	1	0	C5	122791790	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	5.407000	0.66363	2.882000	0.98803	0.655000	0.94253	GAG		0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		17	26	0	0	0	1	0	17	26				
ACAN	176	broad.mit.edu	37	15	89401247	89401247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:89401247G>A	ENST00000561243.1	+	11	5431	c.5431G>A	c.(5431-5433)Gga>Aga	p.G1811R	ACAN_ENST00000559004.1_Missense_Mutation_p.G1811R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1811R|ACAN_ENST00000439576.2_Missense_Mutation_p.G1811R			P16112	PGCA_HUMAN	aggrecan	1855	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCAACATCAGGAGTCCCTGA	0.522																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5431-5433)Gga>Aga		aggrecan							46.0	45.0	46.0					15																	89401247		1889	4100	5989	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401247G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5431G>A	15.37:g.89401247G>A	ENSP00000453342:p.Gly1811Arg					ACAN_ENST00000561243.1_Missense_Mutation_p.G1811R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1811R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1811R	p.G1811R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5805	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1811					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5431G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692876	0.30052	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03035	4.33;4.07	5.7	1.66	0.24008	.	0.581194	0.13130	N	0.411495	T	0.07143	0.0181	M	0.83483	2.645	0.09310	N	1	P;P	0.45044	0.849;0.709	B;B	0.40066	0.318;0.217	T	0.29243	-1.0018	10	0.21540	T	0.41	-4.5662	10.9414	0.47275	0.2461:0.0:0.7539:0.0	.	1811;1811	E7ENV9;E7EX88	.;.	R	1811;1811;1697	ENSP00000387356:G1811R;ENSP00000341615:G1811R	ENSP00000268134:G1697R	G	+	1	0	ACAN	87202251	0.130000	0.22417	0.004000	0.12327	0.283000	0.27025	0.606000	0.24194	0.060000	0.16281	-0.126000	0.14955	GGA		0.522	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	27	0	0	0	1	0	7	27				
C1orf87	127795	broad.mit.edu	37	1	60521104	60521104	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:60521104C>A	ENST00000371201.3	-	3	221	c.114G>T	c.(112-114)gaG>gaT	p.E38D	C1orf87_ENST00000450089.2_Missense_Mutation_p.E38D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	38							calcium ion binding (GO:0005509)	p.E38E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTGTCATTCTCCTTGCTGT	0.423																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			1	Substitution - coding silent(1)	p.E38E(1)	large_intestine(1)	breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(112-114)gaG>gaT		chromosome 1 open reading frame 87							213.0	179.0	191.0					1																	60521104		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60521104C>A	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.114G>T	1.37:g.60521104C>A	ENSP00000360244:p.Glu38Asp					C1orf87_ENST00000450089.2_Missense_Mutation_p.E38D	p.E38D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			3	221	-			38					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.114G>T	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	9.243	1.038864	0.19669	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.18810	2.19	4.66	0.539	0.17156	.	0.294236	0.24386	N	0.038967	T	0.14743	0.0356	L	0.54323	1.7	0.09310	N	0.999998	P	0.36535	0.557	B	0.32762	0.152	T	0.18555	-1.0333	10	0.22706	T	0.39	-4.1413	6.5864	0.22622	0.0:0.5661:0.0:0.4339	.	38	Q8N0U7	CA087_HUMAN	D	38	ENSP00000360244:E38D	ENSP00000360244:E38D	E	-	3	2	C1orf87	60293692	0.001000	0.12720	0.096000	0.21009	0.125000	0.20455	-0.582000	0.05814	0.005000	0.14708	0.591000	0.81541	GAG		0.423	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		20	51	1	0	1.56452e-12	1	1.65076e-12	20	51				
CDNF	441549	broad.mit.edu	37	10	14867593	14867593	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs147677694		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:14867593G>A	ENST00000378442.1	-	0	467				CDNF_ENST00000378441.2_Intron			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						TTGTGGCTGCGTCTTTTGTGG	0.413																																						ENST00000378442.1																			0				breast(2)|large_intestine(2)|lung(1)	5								cerebral dopamine neurotrophic factor		G		1,4405	2.1+/-5.4	0,1,2202	167.0	161.0	163.0		270	-3.1	0.7	10	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDNF	NM_001029954.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		90/188	14867593	2,13004	2203	4300	6503			441549					extracellular region	growth factor activity	g.chr10:14867593G>A	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.-37C>T	10.37:g.14867593G>A						CDNF_ENST00000378441.2_Intron				Q49AH0	CDNF_HUMAN			0	467	-								A2RUU0|B4DVW3	Translation_Start_Site	SNP	ENST00000378442.1	37																																																																																						0.413	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954		47	91	0	0	0	1	0	47	91				
BPI	671	broad.mit.edu	37	20	36964027	36964027	+	Missense_Mutation	SNP	C	C	A	rs368496977		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:36964027C>A	ENST00000262865.4	+	14	1465	c.1376C>A	c.(1375-1377)cCg>cAg	p.P459Q	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	459					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)				TTCCCTCTCCCGACGCCGGCC	0.557																																						ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(1375-1377)cCg>cAg		bactericidal/permeability-increasing protein							94.0	93.0	94.0					20																	36964027		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.chr20:36964027C>A	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.1376C>A	20.37:g.36964027C>A	ENSP00000262865:p.Pro459Gln					BPI_ENST00000489102.1_3'UTR	p.P459Q	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			14	1465	+		Myeloproliferative disorder(115;0.00878)	459					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.1376C>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378811	0.61735	.	.	ENSG00000101425	ENST00000262865	T	0.30448	1.53	3.65	3.65	0.41850	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	D	0.000005	T	0.58595	0.2133	M	0.88450	2.955	0.40052	D	0.97578	D	0.89917	1.0	D	0.97110	1.0	T	0.67031	-0.5773	10	0.87932	D	0	-27.6185	11.1525	0.48466	0.0:1.0:0.0:0.0	.	459	P17213	BPI_HUMAN	Q	459	ENSP00000262865:P459Q	ENSP00000262865:P459Q	P	+	2	0	BPI	36397441	0.987000	0.35691	0.932000	0.37286	0.090000	0.18270	3.819000	0.55686	2.332000	0.79248	0.455000	0.32223	CCG		0.557	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		37	87	1	0	9.14704e-12	1	9.57581e-12	37	87				
AADAC	13	broad.mit.edu	37	3	151545457	151545457	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:151545457C>G	ENST00000232892.7	+	5	823	c.697C>G	c.(697-699)Caa>Gaa	p.Q233E	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	233					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCGTCATATCAAGAAAATTC	0.368																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(697-699)Caa>Gaa		arylacetamide deacetylase							70.0	71.0	71.0					3																	151545457		2203	4299	6502	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545457C>G	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.697C>G	3.37:g.151545457C>G	ENSP00000232892:p.Gln233Glu					RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	p.Q233E	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	823	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	233					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.697C>G	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100054	0.37048	.	.	ENSG00000114771	ENST00000232892	T	0.10382	2.88	4.81	2.89	0.33648	Alpha/beta hydrolase fold-3 (1);	0.382469	0.30093	N	0.010423	T	0.13114	0.0318	L	0.38649	1.16	0.80722	D	1	P	0.45768	0.866	P	0.46389	0.515	T	0.01452	-1.1351	10	0.66056	D	0.02	-11.9293	13.0322	0.58848	0.2941:0.7059:0.0:0.0	.	233	P22760	AAAD_HUMAN	E	233	ENSP00000232892:Q233E	ENSP00000232892:Q233E	Q	+	1	0	AADAC	153028147	0.000000	0.05858	0.002000	0.10522	0.278000	0.26855	0.907000	0.28531	0.363000	0.24346	0.591000	0.81541	CAA		0.368	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		21	83	0	0	0	1	0	21	83				
SMPDL3B	27293	broad.mit.edu	37	1	28282329	28282329	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:28282329C>T	ENST00000373894.3	+	6	1016	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SMPDL3B_ENST00000373888.4_Silent_p.F275F|SMPDL3B_ENST00000549094.1_Silent_p.F227F|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	275					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.F275F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGCAGTTCTTCGGGCACCACC	0.547																																						ENST00000373894.3																			1	Substitution - coding silent(1)	p.F275F(1)	upper_aerodigestive_tract(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(823-825)ttC>ttT		sphingomyelin phosphodiesterase, acid-like 3B							120.0	100.0	107.0					1																	28282329		2203	4300	6503	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28282329C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.825C>T	1.37:g.28282329C>T						RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.F227F|SMPDL3B_ENST00000373888.4_Silent_p.F275F	p.F275F	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	6	1016	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	275					B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.825C>T	CCDS30655.1																																																																																				0.547	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		12	46	0	0	0	1	0	12	46				
XYLT1	64131	broad.mit.edu	37	16	17211668	17211668	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:17211668G>T	ENST00000261381.6	-	11	2476	c.2392C>A	c.(2392-2394)Ctc>Atc	p.L798I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	798					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTCAATGAGGATGTCGTAG	0.562																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2392-2394)Ctc>Atc		xylosyltransferase I							170.0	148.0	156.0					16																	17211668		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211668G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2392C>A	16.37:g.17211668G>T	ENSP00000261381:p.Leu798Ile						p.L798I	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			11	2476	-			798					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2392C>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728290	0.48833	.	.	ENSG00000103489	ENST00000261381	T	0.04706	3.57	4.98	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01013	-1.1481	10	0.31617	T	0.26	-25.1078	13.3475	0.60582	0.0813:0.0:0.9187:0.0	.	798	Q86Y38	XYLT1_HUMAN	I	798	ENSP00000261381:L798I	ENSP00000261381:L798I	L	-	1	0	XYLT1	17119169	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.819000	0.48049	2.446000	0.82766	0.462000	0.41574	CTC		0.562	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		28	56	1	0	6.07407e-21	1	6.64429e-21	28	56				
RBM8A	9939	broad.mit.edu	37	1	145508209	145508209	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:145508209G>C	ENST00000330165.8	+	3	199	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RBM8A_ENST00000369307.3_Splice_Site|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	44					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTATAGAAGAGGGGTCCCG	0.547											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330165.7																			0				kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(130-132)Gag>Cag		RNA binding motif protein 8A							88.0	89.0	89.0					1																	145508209		2203	4300	6503	SO:0001583	missense	9939				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr1:145508209G>C	AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.130G>C	1.37:g.145508209G>C	ENSP00000333001:p.Glu44Gln		OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1695	RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RBM8A_ENST00000369307.3_Splice_Site|RP11-315I20.1_ENST00000447686.2_RNA	p.E44Q	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN			3	199	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		44					B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	ENST00000330165.8	37	c.130G>C	CCDS916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.799417|3.799417	0.70567|0.70567	.|.	.|.	ENSG00000131795|ENSG00000131795	ENST00000369307|ENST00000330165	.|T	.|0.15372	.|2.43	5.3|5.3	4.39|4.39	0.52855|0.52855	.|.	.|0.050215	.|0.85682	.|D	.|0.000000	.|T	.|0.05273	.|0.0140	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B	.|0.30068	.|0.267	.|B	.|0.25987	.|0.065	.|T	.|0.15694	.|-1.0428	.|10	.|0.13853	.|T	.|0.58	.|-8.427	11.7168|11.7168	0.51659|0.51659	0.0851:0.0:0.9149:0.0|0.0851:0.0:0.9149:0.0	.|.	.|44	.|Q9Y5S9	.|RBM8A_HUMAN	.|Q	-1|44	.|ENSP00000333001:E44Q	.|ENSP00000333001:E44Q	.|E	+|+	.|1	.|0	RBM8A|RBM8A	144219566|144219566	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	8.030000|8.030000	0.88816|0.88816	1.480000|1.480000	0.48289|0.48289	0.555000|0.555000	0.69702|0.69702	.|GAG		0.547	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038503.2	NM_005105		27	56	0	0	0	1	0	27	56				
PCNX	22990	broad.mit.edu	37	14	71518633	71518633	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:71518633C>T	ENST00000304743.2	+	24	4927	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L	PCNX_ENST00000238570.5_Missense_Mutation_p.S1494L|PCNX_ENST00000439984.3_Missense_Mutation_p.S1383L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1494						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTGCTGTCTCGGCCTTCTTC	0.448																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(4480-4482)tCg>tTg		pecanex homolog (Drosophila)							213.0	201.0	205.0					14																	71518633		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71518633C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4481C>T	14.37:g.71518633C>T	ENSP00000304192:p.Ser1494Leu					PCNX_ENST00000238570.5_Missense_Mutation_p.S1494L|PCNX_ENST00000439984.3_Missense_Mutation_p.S1383L	p.S1494L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	24	4927	+			1494					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.4481C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.044163|4.044163	0.75732|0.75732	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.21543	.|2.3;2.28;2.0	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56108|0.56108	0.1963|0.1963	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.995;1.0	.|D;P;D	.|0.79108	.|0.99;0.702;0.992	T|T	0.60291|0.60291	-0.7292|-0.7292	5|10	.|0.54805	.|T	.|0.06	.|.	20.1346|20.1346	0.98019|0.98019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1494;1383;1494	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	W|L	553|1494;1494;1383	.|ENSP00000304192:S1494L;ENSP00000238570:S1494L;ENSP00000396617:S1383L	.|ENSP00000238570:S1494L	R|S	+|+	1|2	2|0	PCNX|PCNX	70588386|70588386	1.000000|1.000000	0.71417|0.71417	0.309000|0.309000	0.25155|0.25155	0.852000|0.852000	0.48524|0.48524	7.442000|7.442000	0.80503|0.80503	2.763000|2.763000	0.94921|0.94921	0.557000|0.557000	0.71058|0.71058	CGG|TCG		0.448	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		70	135	0	0	0	1	0	70	135				
CASC3	22794	broad.mit.edu	37	17	38296830	38296830	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:38296830C>T	ENST00000264645.7	+	1	255	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	10					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)	p.S10L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGCGCGCTTCGCAAGACACC	0.726																																						ENST00000264645.7																			1	Substitution - Missense(1)	p.S10L(1)	lung(1)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(28-30)tCg>tTg		cancer susceptibility candidate 3							19.0	25.0	23.0					17																	38296830		2157	4240	6397	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38296830C>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.29C>T	17.37:g.38296830C>T	ENSP00000264645:p.Ser10Leu						p.S10L	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			1	255	+			10					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.29C>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.909602	0.92107	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	4.91	4.91	0.64330	.	0.076521	0.52532	D	0.000068	T	0.66406	0.2786	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.89917	1.0;0.997	D;D	0.76575	0.988;0.968	T	0.69632	-0.5093	9	0.87932	D	0	-5.2506	15.1287	0.72503	0.0:1.0:0.0:0.0	.	10;10	B4DKR6;O15234	.;CASC3_HUMAN	L	10	.	ENSP00000264645:S10L	S	+	2	0	CASC3	35550356	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.874000	0.48483	2.545000	0.85829	0.556000	0.70494	TCG		0.726	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		29	533	0	0	0	1	0	29	533				
DSG4	147409	broad.mit.edu	37	18	28989738	28989738	+	Missense_Mutation	SNP	G	G	T	rs147049549		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:28989738G>T	ENST00000308128.4	+	14	2239	c.2104G>T	c.(2104-2106)Gcc>Tcc	p.A702S	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	702					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCATGACAGCCTCAAATAC	0.328																																						ENST00000308128.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2104-2106)Gcc>Tcc		desmoglein 4							77.0	74.0	75.0					18																	28989738		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28989738G>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2104G>T	18.37:g.28989738G>T	ENSP00000311859:p.Ala702Ser					DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.A702S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2239	+			702					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2104G>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824408	0.50739	.	.	ENSG00000175065	ENST00000308128	T	0.58506	0.33	5.46	5.46	0.80206	.	.	.	.	.	T	0.48409	0.1498	L	0.44542	1.39	0.80722	D	1	B	0.25563	0.129	B	0.20184	0.028	T	0.40117	-0.9580	9	0.12766	T	0.61	.	16.3846	0.83500	0.0:0.0:1.0:0.0	.	702	Q86SJ6	DSG4_HUMAN	S	702	ENSP00000311859:A702S	ENSP00000311859:A702S	A	+	1	0	DSG4	27243736	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.938000	0.48987	2.710000	0.92621	0.655000	0.94253	GCC		0.328	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		16	33	1	0	2.39187e-15	1	2.53368e-15	16	33				
LCE5A	254910	broad.mit.edu	37	1	152484287	152484287	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:152484287G>A	ENST00000334269.2	+	2	453	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	CRCT1_ENST00000368790.3_5'Flank	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	93	Cys-rich.				keratinization (GO:0031424)					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGGCAGTGGCCAGCAGTC	0.687																																						ENST00000334269.2																			0				lung(3)|ovary(1)|prostate(3)	7						c.(277-279)Ggc>Agc		late cornified envelope 5A							19.0	23.0	22.0					1																	152484287		2200	4287	6487	SO:0001583	missense	254910				keratinization			g.chr1:152484287G>A	BI670518	CCDS1011.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000186207	ENSG00000186207		"""Late cornified envelopes"""	16614	protein-coding gene	gene with protein product		612619	"""small proline rich-like (epidermal differentiation complex) 5A"""	SPRL5A		11698679	Standard	NM_178438		Approved	LEP18	uc001ezy.3	Q5TCM9	OTTHUMG00000014401	ENST00000334269.2:c.277G>A	1.37:g.152484287G>A	ENSP00000333952:p.Gly93Ser						p.G93S	NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	453	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		93			Cys-rich.			Missense_Mutation	SNP	ENST00000334269.2	37	c.277G>A	CCDS1011.1	.	.	.	.	.	.	.	.	.	.	g	8.225	0.803273	0.16397	.	.	ENSG00000186207	ENST00000334269	T	0.08984	3.03	4.32	-0.154	0.13399	.	.	.	.	.	T	0.00906	0.0030	N	0.03071	-0.42	0.09310	N	1	B	0.25563	0.129	B	0.20767	0.031	T	0.46624	-0.9178	9	0.87932	D	0	-9.1105	3.0549	0.06181	0.3639:0.0:0.4473:0.1888	.	93	Q5TCM9	LCE5A_HUMAN	S	93	ENSP00000333952:G93S	ENSP00000333952:G93S	G	+	1	0	LCE5A	150750911	0.061000	0.20836	0.000000	0.03702	0.676000	0.39594	0.334000	0.19787	-0.213000	0.10094	-0.175000	0.13238	GGC		0.687	LCE5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040059.1	NM_178438		26	40	0	0	0	1	0	26	40				
SLC52A3	113278	broad.mit.edu	37	20	746095	746095	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:746095G>A	ENST00000217254.7	-	2	565	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Silent_p.F108F	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	108					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										TGAGGACCAAGAAGGCGATGC	0.592																																						ENST00000381944.3																			0											c.(322-324)ttC>ttT		solute carrier family 52 (riboflavin transporter), member 3							62.0	48.0	53.0					20																	746095		2203	4300	6503	SO:0001819	synonymous_variant	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:746095G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.324C>T	20.37:g.746095G>A						SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.F108F	p.F108F			Q9NQ40	RFT2_HUMAN			2	565	-			108					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	c.324C>T	CCDS13007.1																																																																																				0.592	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		10	14	0	0	0	1	0	10	14				
DENND6B	414918	broad.mit.edu	37	22	50750780	50750780	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:50750780C>T	ENST00000413817.3	-	19	1698	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	543					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										ACCAGCTTCTCACGAAGTTTC	0.622																																						ENST00000413817.2																			0											c.(1627-1629)Gag>Aag		DENN/MADD domain containing 6B							68.0	70.0	70.0					22																	50750780		2121	4225	6346	SO:0001583	missense	414918							g.chr22:50750780C>T	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1627G>A	22.37:g.50750780C>T	ENSP00000391524:p.Glu543Lys						p.E543K	NM_001001794.3	NP_001001794.3					19	1698	-								A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1627G>A	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.888076	0.91814	.	.	ENSG00000205593	ENST00000413817	.	.	.	5.27	5.27	0.74061	.	0.104644	0.64402	D	0.000005	T	0.61160	0.2325	L	0.59436	1.845	0.80722	D	1	P;P	0.52463	0.953;0.953	P;P	0.47603	0.551;0.551	T	0.63332	-0.6661	9	0.45353	T	0.12	-36.7895	15.809	0.78543	0.0:1.0:0.0:0.0	.	543;543	Q8NEG7;C9JIV6	F116B_HUMAN;.	K	543	.	ENSP00000391524:E543K	E	-	1	0	FAM116B	49093352	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.025000	0.64097	2.471000	0.83476	0.556000	0.70494	GAG		0.622	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		14	20	0	0	0	1	0	14	20				
LRRC39	127495	broad.mit.edu	37	1	100618068	100618068	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:100618068G>A	ENST00000370137.1	-	9	1023	c.825C>T	c.(823-825)ttC>ttT	p.F275F	LRRC39_ENST00000342895.3_Silent_p.F275F|LRRC39_ENST00000370138.1_Silent_p.F275F	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	275								p.F275F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGTTGTCTCTGAAGTTGACAA	0.373																																						ENST00000370138.1																			1	Substitution - coding silent(1)	p.F275F(1)	ovary(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13						c.(823-825)ttC>ttT		leucine rich repeat containing 39							107.0	102.0	104.0					1																	100618068		2203	4300	6503	SO:0001819	synonymous_variant	127495							g.chr1:100618068G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.825C>T	1.37:g.100618068G>A						LRRC39_ENST00000370137.1_Silent_p.F275F|LRRC39_ENST00000342895.3_Silent_p.F275F	p.F275F	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	9	1023	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	275					B3KUD2|D3DT56|Q5VVK7	Silent	SNP	ENST00000370137.1	37	c.825C>T	CCDS766.1																																																																																				0.373	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		28	63	0	0	0	1	0	28	63				
WDR62	284403	broad.mit.edu	37	19	36562515	36562515	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:36562515G>A	ENST00000270301.7	+	8	940	c.940G>A	c.(940-942)Gat>Aat	p.D314N	WDR62_ENST00000401500.2_Missense_Mutation_p.D314N|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Missense_Mutation_p.D314N			O43379	WDR62_HUMAN	WD repeat domain 62	314					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTGCACAGATGGGATAGT	0.597																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(940-942)Gat>Aat		WD repeat domain 62							98.0	87.0	91.0					19																	36562515		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36562515G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.940G>A	19.37:g.36562515G>A	ENSP00000270301:p.Asp314Asn					WDR62_ENST00000388999.3_Missense_Mutation_p.D314N|WDR62_ENST00000270301.7_Missense_Mutation_p.D314N|WDR62_ENST00000378860.4_3'UTR	p.D314N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	975	+	Esophageal squamous(110;0.162)		314					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.940G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220579	0.95139	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.73681	-0.7;2.32;4.25;-0.77	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	L	0.41236	1.265	0.58432	D	0.999998	D;D;P	0.89917	1.0;1.0;0.859	D;D;B	0.91635	0.999;0.991;0.274	T	0.79955	-0.1585	10	0.41790	T	0.15	-26.6076	17.9158	0.88950	0.0:0.0:1.0:0.0	.	314;314;314	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	N	314;314;314;314;336	ENSP00000384792:D314N;ENSP00000373651:D314N;ENSP00000368137:D314N;ENSP00000270301:D314N	ENSP00000270301:D314N	D	+	1	0	WDR62	41254355	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.215000	0.58534	2.832000	0.97577	0.655000	0.94253	GAT		0.597	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		41	58	0	0	0	1	0	41	58				
EPB41	2035	broad.mit.edu	37	1	29314085	29314085	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:29314085G>C	ENST00000343067.4	+	2	263	c.136G>C	c.(136-138)Gat>Cat	p.D46H	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.D46H|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.D46H|EPB41_ENST00000398863.2_Missense_Mutation_p.D46H|EPB41_ENST00000356093.2_Missense_Mutation_p.D46H|EPB41_ENST00000347529.3_Missense_Mutation_p.D46H|Y_RNA_ENST00000383977.1_RNA	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	46					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGCTGAAGGAGATAATTGGTG	0.463																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(136-138)Gat>Cat		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							184.0	185.0	185.0					1																	29314085		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314085G>C	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.136G>C	1.37:g.29314085G>C	ENSP00000345259:p.Asp46His					EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.D46H|EPB41_ENST00000356093.2_Missense_Mutation_p.D46H|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.D46H|EPB41_ENST00000347529.3_Missense_Mutation_p.D46H|EPB41_ENST00000373798.1_Missense_Mutation_p.D46H	p.D46H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	263	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	46					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.136G>C	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.023994	0.19433	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.7;-1.58;-1.87;-1.84	5.6	3.36	0.38483	.	1.827930	0.02295	N	0.070675	T	0.80803	0.4693	N	0.14661	0.345	0.09310	N	0.999999	B;B;P;P;P	0.42123	0.35;0.232;0.482;0.771;0.771	B;B;B;B;P	0.46940	0.176;0.117;0.329;0.329;0.532	T	0.71567	-0.4554	10	0.72032	D	0.01	.	6.6029	0.22710	0.1822:0.0:0.6684:0.1494	.	46;46;46;46;46	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	H	63;46;46;46;46;46;46;46;46	ENSP00000345259:D46H;ENSP00000348397:D46H;ENSP00000381839:D46H;ENSP00000290100:D46H;ENSP00000362904:D46H;ENSP00000362903:D46H	ENSP00000345259:D46H	D	+	1	0	EPB41	29186672	0.512000	0.26186	0.976000	0.42696	0.067000	0.16453	0.872000	0.28037	1.334000	0.45468	0.650000	0.86243	GAT		0.463	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		65	147	0	0	0	1	0	65	147				
WHSC1	7468	broad.mit.edu	37	4	1902732	1902732	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:1902732C>T	ENST00000382895.3	+	4	782	c.351C>T	c.(349-351)atC>atT	p.I117I	WHSC1_ENST00000398261.1_Silent_p.I117I|WHSC1_ENST00000420906.2_Silent_p.I117I|WHSC1_ENST00000503128.1_Silent_p.I117I|WHSC1_ENST00000514045.1_Silent_p.I117I|WHSC1_ENST00000382892.2_Silent_p.I117I|WHSC1_ENST00000382891.5_Silent_p.I117I|WHSC1_ENST00000508803.1_Silent_p.I117I|WHSC1_ENST00000436793.1_Silent_p.I117I	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	117					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTACCCCTATCAAAAATGGCT	0.473			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(349-351)atC>atT		Wolf-Hirschhorn syndrome candidate 1							60.0	62.0	61.0					4																	1902732		2203	4300	6503	SO:0001819	synonymous_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902732C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.351C>T	4.37:g.1902732C>T						WHSC1_ENST00000508803.1_Silent_p.I117I|WHSC1_ENST00000436793.1_Silent_p.I117I|WHSC1_ENST00000382895.3_Silent_p.I117I|WHSC1_ENST00000420906.2_Silent_p.I117I|WHSC1_ENST00000382891.5_Silent_p.I117I|WHSC1_ENST00000398261.1_Silent_p.I117I|WHSC1_ENST00000382892.2_Silent_p.I117I|WHSC1_ENST00000514045.1_Silent_p.I117I	p.I117I			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	558	+		all_epithelial(65;1.34e-05)	117					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Silent	SNP	ENST00000382895.3	37	c.351C>T	CCDS33940.1																																																																																				0.473	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		20	49	0	0	0	1	0	20	49				
TCERG1	10915	broad.mit.edu	37	5	145850294	145850294	+	Missense_Mutation	SNP	A	A	G	rs143498728		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:145850294A>G	ENST00000296702.5	+	8	1533	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	TCERG1_ENST00000394421.2_Missense_Mutation_p.I478V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	499	Glu-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGAGCCTATAAAGGAGAT	0.418													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15919	0.0		0.0	False		,,,				2504	0.0					ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1495-1497)Ata>Gta		transcription elongation regulator 1		A	VAL/ILE,VAL/ILE	2,4404	4.2+/-10.8	0,2,2201	83.0	79.0	80.0		1432,1495	3.0	0.8	5	dbSNP_134	80	0,8600		0,0,4300	no	missense,missense	TCERG1	NM_001040006.1,NM_006706.3	29,29	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign	478/1078,499/1099	145850294	2,13004	2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145850294A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1495A>G	5.37:g.145850294A>G	ENSP00000296702:p.Ile499Val					TCERG1_ENST00000394421.2_Missense_Mutation_p.I478V	p.I499V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1533	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	499			Glu-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1495A>G	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	A	8.504	0.865005	0.17250	4.54E-4	0.0	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.75938	-0.98;-0.98	5.52	2.99	0.34606	.	0.497073	0.24873	N	0.034918	T	0.52805	0.1757	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.32375	-0.9909	10	0.21014	T	0.42	-8.0091	8.1676	0.31237	0.5521:0.3792:0.0687:0.0	.	478;478;499	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	V	499;478	ENSP00000296702:I499V;ENSP00000377943:I478V	ENSP00000296702:I499V	I	+	1	0	TCERG1	145830487	0.000000	0.05858	0.821000	0.32701	0.985000	0.73830	-0.189000	0.09629	0.415000	0.25817	0.383000	0.25322	ATA		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		18	29	0	0	0	1	0	18	29				
CCDC116	164592	broad.mit.edu	37	22	21989383	21989383	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:21989383C>G	ENST00000292779.3	+	4	1192	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	CCDC116_ENST00000607942.1_Nonsense_Mutation_p.S344*	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	344										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GAGCCCACCTCAGATCTGCCG	0.662																																						ENST00000292779.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(1030-1032)tCa>tGa		coiled-coil domain containing 116							34.0	36.0	35.0					22																	21989383		2203	4300	6503	SO:0001587	stop_gained	164592							g.chr22:21989383C>G	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1031C>G	22.37:g.21989383C>G	ENSP00000292779:p.Ser344*						p.S344*	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			4	1192	+	Colorectal(54;0.105)		344					Q8N9Y9	Nonsense_Mutation	SNP	ENST00000292779.3	37	c.1031C>G	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620238	0.87460	.	.	ENSG00000161180	ENST00000292779	.	.	.	3.56	2.52	0.30459	.	1.571770	0.03858	N	0.273499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.5716	8.8749	0.35339	0.0:0.7701:0.2299:0.0	.	.	.	.	X	344	.	ENSP00000292779:S344X	S	+	2	0	CCDC116	20319383	0.000000	0.05858	0.014000	0.15608	0.110000	0.19582	0.673000	0.25203	1.059000	0.40554	0.561000	0.74099	TCA		0.662	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		22	57	0	0	0	1	0	22	57				
TMEM63C	57156	broad.mit.edu	37	14	77709309	77709309	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:77709309C>G	ENST00000298351.4	+	15	1395	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	417					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACACCTTCCTCTTCTTCCTCT	0.532																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(1249-1251)ctC>ctG		transmembrane protein 63C							93.0	100.0	97.0					14																	77709309		2056	4194	6250	SO:0001819	synonymous_variant	57156					integral to membrane		g.chr14:77709309C>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1251C>G	14.37:g.77709309C>G							p.L417L	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	15	1395	+			417					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	c.1251C>G	CCDS45141.1																																																																																				0.532	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			17	46	0	0	0	1	0	17	46				
DOPEY2	9980	broad.mit.edu	37	21	37626126	37626126	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr21:37626126C>G	ENST00000399151.3	+	23	5263	c.5178C>G	c.(5176-5178)ctC>ctG	p.L1726L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1726					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTGTGCACTCAGCACCCTGC	0.527																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(5176-5178)ctC>ctG		dopey family member 2							124.0	118.0	120.0					21																	37626126		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37626126C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5178C>G	21.37:g.37626126C>G							p.L1726L	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			23	5263	+			1726					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.5178C>G	CCDS13643.1																																																																																				0.527	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		38	73	0	0	0	1	0	38	73				
SLC25A23	79085	broad.mit.edu	37	19	6454339	6454339	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:6454339C>T	ENST00000301454.4	-	6	896	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	SLC25A23_ENST00000334510.5_Missense_Mutation_p.E264K|SLC25A23_ENST00000414491.2_Missense_Mutation_p.E81K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	264					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCACCTGTTCATAGGCCATG	0.532																																						ENST00000301454.4																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						c.(790-792)Gaa>Aaa		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23							133.0	131.0	132.0					19																	6454339		2203	4300	6503	SO:0001583	missense	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6454339C>T	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.790G>A	19.37:g.6454339C>T	ENSP00000301454:p.Glu264Lys					SLC25A23_ENST00000334510.5_Missense_Mutation_p.E264K|SLC25A23_ENST00000414491.2_Missense_Mutation_p.E81K	p.E264K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN			6	896	-			264					B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	ENST00000301454.4	37	c.790G>A	CCDS32882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325200	0.95708	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000414491;ENST00000334510	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.79	5.79	0.91817	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	H	0.97465	4.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.988;0.994	D	0.96098	0.9067	10	0.87932	D	0	-35.1383	18.8014	0.92018	0.0:1.0:0.0:0.0	.	81;264	E7ESZ5;Q9BV35	.;SCMC3_HUMAN	K	311;264;81;264	ENSP00000264088:E311K;ENSP00000301454:E264K;ENSP00000408814:E81K;ENSP00000334537:E264K	ENSP00000264088:E311K	E	-	1	0	SLC25A23	6405339	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	7.459000	0.80802	2.748000	0.94277	0.655000	0.94253	GAA		0.532	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		115	126	0	0	0	1	0	115	126				
TRPV2	51393	broad.mit.edu	37	17	16335342	16335342	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:16335342G>A	ENST00000338560.7	+	12	2116	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E143K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	573					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAATGCCACAGAGTCAGTGCA	0.622																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1717-1719)Gag>Aag		transient receptor potential cation channel, subfamily V, member 2							52.0	52.0	52.0					17																	16335342		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335342G>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1717G>A	17.37:g.16335342G>A	ENSP00000342222:p.Glu573Lys					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E143K	p.E573K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2116	+			573					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1717G>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679250	0.29783	.	.	ENSG00000187688	ENST00000338560	D	0.89270	-2.49	4.51	2.26	0.28386	Ion transport (1);	1.405610	0.04044	N	0.303559	T	0.75817	0.3901	N	0.05078	-0.115	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.64402	-0.6416	10	0.06625	T	0.88	-23.2197	8.3627	0.32367	0.0:0.1701:0.6541:0.1758	.	573	Q9Y5S1	TRPV2_HUMAN	K	573	ENSP00000342222:E573K	ENSP00000342222:E573K	E	+	1	0	TRPV2	16276067	0.000000	0.05858	0.035000	0.18076	0.221000	0.24807	0.437000	0.21543	0.999000	0.39023	0.449000	0.29647	GAG		0.622	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		31	53	0	0	0	1	0	31	53				
PTGER3	5733	broad.mit.edu	37	1	71512660	71512660	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:71512660C>A	ENST00000306666.5	-	1	811	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	PTGER3_ENST00000460330.1_Missense_Mutation_p.V201F|PTGER3_ENST00000370932.2_Missense_Mutation_p.V201F|PTGER3_ENST00000370931.3_Missense_Mutation_p.V201F|PTGER3_ENST00000356595.4_Missense_Mutation_p.V201F|PTGER3_ENST00000414819.1_Missense_Mutation_p.V201F|PTGER3_ENST00000370924.4_Missense_Mutation_p.V201F|PTGER3_ENST00000351052.5_Missense_Mutation_p.V201F|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000354608.5_Missense_Mutation_p.V201F	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	201					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GGCCACTGGACGGTGTACTGG	0.672																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(601-603)Gtc>Ttc		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						48.0	49.0	49.0					1																	71512660		2202	4299	6501	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512660C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.601G>T	1.37:g.71512660C>A	ENSP00000302313:p.Val201Phe					PTGER3_ENST00000370931.3_Missense_Mutation_p.V201F|PTGER3_ENST00000414819.1_Missense_Mutation_p.V201F|PTGER3_ENST00000354608.5_Missense_Mutation_p.V201F|PTGER3_ENST00000370932.2_Missense_Mutation_p.V201F|PTGER3_ENST00000460330.1_Missense_Mutation_p.V201F|PTGER3_ENST00000351052.5_Missense_Mutation_p.V201F|PTGER3_ENST00000356595.4_Missense_Mutation_p.V201F|PTGER3_ENST00000306666.5_Missense_Mutation_p.V201F	p.V201F	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			1	831	-			201					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.601G>T	CCDS657.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207809	0.39003	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.1	-1.87	0.07737	GPCR, rhodopsin-like superfamily (1);	1.055540	0.07365	N	0.884643	T	0.16811	0.0404	L	0.39147	1.195	0.09310	N	1	P;B;P;D;D;B;P;P	0.56968	0.931;0.293;0.916;0.96;0.978;0.249;0.546;0.601	P;B;P;P;P;B;B;B	0.54856	0.762;0.247;0.732;0.679;0.762;0.16;0.242;0.247	T	0.15752	-1.0426	10	0.10111	T	0.7	-12.4896	7.7472	0.28875	0.0:0.2274:0.2009:0.5717	.	201;201;201;201;201;201;201;201	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	F	201	ENSP00000359969:V201F;ENSP00000359970:V201F;ENSP00000280208:V201F;ENSP00000418073:V201F;ENSP00000346624:V201F;ENSP00000349003:V201F;ENSP00000401423:V201F;ENSP00000302313:V201F;ENSP00000359962:V201F	ENSP00000302313:V201F	V	-	1	0	PTGER3	71285248	0.000000	0.05858	0.395000	0.26283	0.932000	0.56968	-0.361000	0.07612	-0.568000	0.06038	-0.379000	0.06801	GTC		0.672	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		22	68	1	0	2.81731e-10	1	2.9379e-10	22	68				
FCGBP	8857	broad.mit.edu	37	19	40398454	40398454	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40398454G>T	ENST00000221347.6	-	14	6520	c.6513C>A	c.(6511-6513)caC>caA	p.H2171Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2171	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCGCTCAGGTGTGCGTGCA	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(6511-6513)caC>caA		Fc fragment of IgG binding protein							16.0	19.0	18.0					19																	40398454		1851	3548	5399	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40398454G>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6513C>A	19.37:g.40398454G>T	ENSP00000221347:p.His2171Gln						p.H2171Q	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	6520	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2171			VWFD 5.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.6513C>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005193	0.07773	.	.	ENSG00000090920	ENST00000221347	T	0.58652	0.32	2.17	1.12	0.20585	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.34135	0.0887	N	0.16098	0.37	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20009	-1.0288	9	0.13108	T	0.6	.	8.1282	0.31012	0.1368:0.0:0.8632:0.0	.	2171	Q9Y6R7	FCGBP_HUMAN	Q	2171	ENSP00000221347:H2171Q	ENSP00000221347:H2171Q	H	-	3	2	FCGBP	45090294	0.002000	0.14202	0.007000	0.13788	0.013000	0.08279	0.793000	0.26944	0.478000	0.27488	0.479000	0.44913	CAC		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	67	1	0	1.33834e-09	1	1.38484e-09	8	67				
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2230-2232)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							65.0	65.0	65.0					16																	67319227		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319227G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2230G>A	16.37:g.67319227G>A	ENSP00000353646:p.Glu744Lys					PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4765	+			744			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2230G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601918	0.96614	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33772	N	0.004561	D	0.99032	0.9669	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99069	1.0833	10	0.87932	D	0	.	16.6264	0.84971	0.0:0.0:1.0:0.0	.	663;744	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	744;744;744;663	ENSP00000353646:E744K;ENSP00000401118:E744K;ENSP00000368649:E744K;ENSP00000398030:E663K	ENSP00000353646:E744K	E	+	1	0	PLEKHG4	65876728	1.000000	0.71417	0.931000	0.37212	0.766000	0.43426	9.809000	0.99208	2.178000	0.69098	0.561000	0.74099	GAG		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		29	48	0	0	0	1	0	29	48				
NALCN	259232	broad.mit.edu	37	13	101881863	101881863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:101881863C>A	ENST00000251127.6	-	13	1588	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.G503*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	503					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTTTTTTCCAGGACCAAAT	0.398																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1507-1509)Gga>Tga		sodium leak channel, non-selective							105.0	113.0	111.0					13																	101881863		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101881863C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1507G>T	13.37:g.101881863C>A	ENSP00000251127:p.Gly503*					NALCN_ENST00000376196.3_Nonsense_Mutation_p.G503*|NALCN_ENST00000470333.1_5'UTR	p.G503*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			13	1588	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		503					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.1507G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	40	8.046231	0.98627	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.2063	0.93732	0.0:1.0:0.0:0.0	.	.	.	.	X	503	.	ENSP00000251127:G503X	G	-	1	0	NALCN	100679864	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.365000	0.79537	2.536000	0.85505	0.650000	0.86243	GGA		0.398	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		50	91	1	0	1.38658e-30	1	1.52923e-30	50	91				
SLC38A10	124565	broad.mit.edu	37	17	79220344	79220344	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:79220344C>T	ENST00000374759.3	-	16	2755	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	791					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGAGCAGGGCGGCCCCCAGG	0.682																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2371-2373)cGc>cAc		solute carrier family 38, member 10							23.0	26.0	25.0					17																	79220344		1882	4069	5951	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79220344C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2372G>A	17.37:g.79220344C>T	ENSP00000363891:p.Arg791His						p.R791H	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	2755	-	all_neural(118;0.0804)|Melanoma(429;0.242)		791					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.2372G>A	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.262036	0.23051	.	.	ENSG00000157637	ENST00000374759;ENST00000540966	T;T	0.45668	3.07;0.89	4.07	-7.19	0.01500	.	1.301300	0.05678	U	0.589957	T	0.17365	0.0417	N	0.03115	-0.41	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	10	0.35671	T	0.21	-2.6751	8.3388	0.32230	0.0:0.1759:0.2373:0.5868	.	791	Q9HBR0	S38AA_HUMAN	H	791;177	ENSP00000363891:R791H;ENSP00000437601:R177H	ENSP00000363891:R791H	R	-	2	0	SLC38A10	76834939	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.577000	0.00909	-1.476000	0.01874	-0.670000	0.03821	CGC		0.682	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		30	53	0	0	0	1	0	30	53				
LILRA4	23547	broad.mit.edu	37	19	54849884	54849884	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:54849884G>C	ENST00000291759.4	-	3	194	c.138C>G	c.(136-138)acC>acG	p.T46T	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	46	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GACACCAGATGGTCACGGGGT	0.527											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(136-138)acC>acG		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							108.0	96.0	100.0					19																	54849884		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54849884G>C	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.138C>G	19.37:g.54849884G>C			OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.T46T	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	194	-	Ovarian(34;0.19)		46			Ig-like C2-type 1.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.138C>G	CCDS12890.1																																																																																				0.527	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		21	80	0	0	0	1	0	21	80				
MCF2L2	23101	broad.mit.edu	37	3	182937677	182937677	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:182937677C>G	ENST00000328913.3	-	21	2634	c.2337G>C	c.(2335-2337)gaG>gaC	p.E779D	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E779D	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	779	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGGGTCTATCTCCATATCTT	0.373																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2335-2337)gaG>gaC		MCF.2 cell line derived transforming sequence-like 2							86.0	86.0	86.0					3																	182937677		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182937677C>G	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2337G>C	3.37:g.182937677C>G	ENSP00000328118:p.Glu779Asp					MCF2L2_ENST00000473233.1_Missense_Mutation_p.E779D	p.E779D	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		21	2634	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		779			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2337G>C	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	7.701	0.693130	0.15039	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01871	4.59;4.61	4.05	-2.07	0.07276	Dbl homology (DH) domain (4);	0.305128	0.23729	N	0.045148	T	0.01454	0.0047	L	0.27975	0.815	0.09310	N	0.999993	B	0.12630	0.006	B	0.14023	0.01	T	0.45673	-0.9245	10	0.25106	T	0.35	.	4.9084	0.13809	0.0:0.3517:0.1612:0.4872	.	779	Q86YR7	MF2L2_HUMAN	D	779	ENSP00000328118:E779D;ENSP00000420070:E779D	ENSP00000328118:E779D	E	-	3	2	MCF2L2	184420371	0.011000	0.17503	0.004000	0.12327	0.113000	0.19764	-0.358000	0.07641	-0.473000	0.06871	-0.136000	0.14681	GAG		0.373	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		35	81	0	0	0	1	0	35	81				
GRM7	2917	broad.mit.edu	37	3	6903387	6903387	+	Silent	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:6903387G>T	ENST00000357716.4	+	1	586	c.312G>T	c.(310-312)cgG>cgT	p.R104R	GRM7_ENST00000403881.1_Silent_p.R104R|GRM7_ENST00000402647.2_Silent_p.R104R|GRM7_ENST00000486284.1_Silent_p.R104R|GRM7_ENST00000389336.4_Silent_p.R104R	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	104					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGGGCGCGCGGATCCTGGACA	0.597																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(310-312)cgG>cgT		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						51.0	44.0	46.0					3																	6903387		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903387G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.312G>T	3.37:g.6903387G>T						GRM7_ENST00000357716.4_Silent_p.R104R|GRM7_ENST00000389336.4_Silent_p.R104R|GRM7_ENST00000402647.2_Silent_p.R104R|GRM7_ENST00000403881.1_Silent_p.R104R	p.R104R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	586	+			104					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.312G>T	CCDS43042.1																																																																																				0.597	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		11	16	1	0	1.58986e-06	1	1.62009e-06	11	16				
YEATS2	55689	broad.mit.edu	37	3	183526931	183526931	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:183526931T>C	ENST00000305135.5	+	30	4328	c.4133T>C	c.(4132-4134)gTt>gCt	p.V1378A	YEATS2-AS1_ENST00000609871.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609195.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1378					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTTGGCAGTTGGATACCAG	0.458																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(4132-4134)gTt>gCt		YEATS domain containing 2							267.0	261.0	263.0					3																	183526931		1963	4163	6126	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183526931T>C	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.4133T>C	3.37:g.183526931T>C	ENSP00000306983:p.Val1378Ala						p.V1378A	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		30	4328	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1378					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.4133T>C	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574069	0.28092	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22134	1.97	5.94	5.94	0.96194	.	0.237415	0.34853	N	0.003621	T	0.14227	0.0344	N	0.14661	0.345	0.09310	N	1	B	0.30741	0.293	B	0.27608	0.081	T	0.17992	-1.0351	10	0.32370	T	0.25	-15.7316	16.3951	0.83601	0.0:0.0:0.0:1.0	.	1378	Q9ULM3	YETS2_HUMAN	A	1378	ENSP00000306983:V1378A	ENSP00000306983:V1378A	V	+	2	0	YEATS2	185009625	0.992000	0.36948	0.445000	0.26908	0.989000	0.77384	3.725000	0.54970	2.272000	0.75746	0.460000	0.39030	GTT		0.458	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		103	136	0	0	0	1	0	103	136				
C18orf8	29919	broad.mit.edu	37	18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	267						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAAAGTTTGCCCTGAACGTG	0.428																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(799-801)gCc>gTc		chromosome 18 open reading frame 8							148.0	133.0	138.0					18																	21099089		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21099089C>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.800C>T	18.37:g.21099089C>T	ENSP00000269221:p.Ala267Val					C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	p.A267V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			9	910	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		267					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.800C>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469800	0.96274	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.85396	0.1128	9	0.52906	T	0.07	-16.5741	19.4282	0.94754	0.0:1.0:0.0:0.0	.	267;219	Q96DM3;F5H2W0	MIC1_HUMAN;.	V	267;110;219;110	.	ENSP00000269221:A267V	A	+	2	0	C18orf8	19353087	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.421000	0.80204	2.599000	0.87857	0.491000	0.48974	GCC		0.428	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		4	103	0	0	0	1	0	4	103				
PAPPA2	60676	broad.mit.edu	37	1	176668239	176668239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:176668239C>T	ENST00000367662.3	+	8	3914	c.2750C>T	c.(2749-2751)cCt>cTt	p.P917L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	917					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCAGGGCCTCCTGATGTG	0.537																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2749-2751)cCt>cTt		pappalysin 2							66.0	67.0	67.0					1																	176668239		1888	4105	5993	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668239C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2750C>T	1.37:g.176668239C>T	ENSP00000356634:p.Pro917Leu						p.P917L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	3914	+			917					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2750C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009709	0.75046	.	.	ENSG00000116183	ENST00000367662	T	0.01787	4.64	5.14	5.14	0.70334	Fibronectin, type III (2);	0.219980	0.48767	D	0.000174	T	0.10594	0.0259	M	0.76328	2.33	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.00325	-1.1816	10	0.66056	D	0.02	-7.9451	18.3931	0.90490	0.0:1.0:0.0:0.0	.	917	Q9BXP8	PAPP2_HUMAN	L	917	ENSP00000356634:P917L	ENSP00000356634:P917L	P	+	2	0	PAPPA2	174934862	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	7.179000	0.77665	2.649000	0.89929	0.655000	0.94253	CCT		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			41	60	0	0	0	1	0	41	60				
ZEB2	9839	broad.mit.edu	37	2	145155960	145155960	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:145155960G>C	ENST00000558170.2	-	8	3978	c.2794C>G	c.(2794-2796)Cta>Gta	p.L932V	ZEB2_ENST00000303660.4_Missense_Mutation_p.L932V|ZEB2_ENST00000539609.3_Missense_Mutation_p.L908V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L932V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	932					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGTGGTAGGAAGCTCATC	0.502																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2794-2796)Cta>Gta		zinc finger E-box binding homeobox 2							146.0	141.0	143.0					2																	145155960		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145155960G>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2794C>G	2.37:g.145155960G>C	ENSP00000454157:p.Leu932Val					ZEB2_ENST00000539609.3_Missense_Mutation_p.L908V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L932V|ZEB2_ENST00000303660.4_Missense_Mutation_p.L932V	p.L932V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3978	-			932					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2794C>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142338	0.37825	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14266	2.53;2.52;2.52	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	M	0.62723	1.935	0.80722	D	1	P;D;D;D	0.60575	0.913;0.988;0.97;0.97	P;P;P;P	0.51615	0.591;0.675;0.584;0.584	T	0.02064	-1.1220	10	0.62326	D	0.03	-6.2258	15.2312	0.73390	0.0675:0.0:0.9325:0.0	.	908;797;931;932	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	V	908;932;932	ENSP00000443792:L908V;ENSP00000302501:L932V;ENSP00000386854:L932V	ENSP00000302501:L932V	L	-	1	2	ZEB2	144872430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.922000	0.63404	1.474000	0.48178	0.563000	0.77884	CTA		0.502	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		49	93	0	0	0	1	0	49	93				
POLQ	10721	broad.mit.edu	37	3	121206688	121206688	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:121206688G>A	ENST00000264233.5	-	16	5218	c.5090C>T	c.(5089-5091)tCt>tTt	p.S1697F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1697					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATTATTAGAAGAAAATGA	0.308								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(5089-5091)tCt>tTt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							67.0	73.0	71.0					3																	121206688		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206688G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5090C>T	3.37:g.121206688G>A	ENSP00000264233:p.Ser1697Phe						p.S1697F	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5218	-			1697					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5090C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	4.861	0.160079	0.09287	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50277	0.75	5.73	2.81	0.32909	.	1.893130	0.01860	N	0.036544	T	0.45677	0.1354	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.761;0.944	B;P	0.51135	0.202;0.66	T	0.25502	-1.0130	10	0.40728	T	0.16	.	5.6398	0.17557	0.0631:0.226:0.4776:0.2332	.	1697;869	O75417;O75417-2	DPOLQ_HUMAN;.	F	1320;1697;1833	ENSP00000264233:S1697F	ENSP00000264233:S1697F	S	-	2	0	POLQ	122689378	0.001000	0.12720	0.001000	0.08648	0.086000	0.17979	0.667000	0.25112	0.380000	0.24823	0.655000	0.94253	TCT		0.308	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		40	66	0	0	0	1	0	40	66				
CYP2D6	1565	broad.mit.edu	37	22	42522658	42522658	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42522658C>A	ENST00000360608.5	-	9	1526	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.G471V|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G420V|NDUFA6-AS1_ENST00000595777.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	471					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCGGGGCTGTCCAGTGGGCAC	0.637																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CI962673	CYP2D6	I		c.(1411-1413)gGa>gTa		cytochrome P450, family 2, subfamily D, polypeptide 6							26.0	23.0	24.0					22																	42522658		2192	4297	6489	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42522658C>A	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1412G>T	22.37:g.42522658C>A	ENSP00000353820:p.Gly471Val					NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G420V|CYP2D6_ENST00000389970.3_Missense_Mutation_p.G471V|NDUFA6-AS1_ENST00000416037.1_RNA	p.G471V	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			9	1526	-			471					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1412G>T	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.642016	0.47153	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	D;D;T	0.81499	-1.5;-1.5;4.79	4.85	3.83	0.44106	.	0.300651	0.28465	N	0.015242	D	0.90452	0.7010	M	0.92604	3.325	0.38295	D	0.942818	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91336	0.5093	10	0.87932	D	0	.	8.4869	0.33076	0.0:0.8186:0.0:0.1814	.	471;420;471	C1ID54;Q6NXU8;Q6NWU0	.;.;.	V	471;471;417;420;420	ENSP00000353820:G471V;ENSP00000374620:G471V;ENSP00000351927:G420V	ENSP00000351927:G420V	G	-	2	0	CYP2D6	40852602	0.305000	0.24481	0.146000	0.22360	0.005000	0.04900	1.587000	0.36622	1.022000	0.39626	-0.266000	0.10368	GGA		0.637	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			9	11	1	0	0.000442599	1	0.00044761	9	11				
CD109	135228	broad.mit.edu	37	6	74524817	74524817	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:74524817C>G	ENST00000287097.5	+	30	3994	c.3882C>G	c.(3880-3882)ctC>ctG	p.L1294L	CD109_ENST00000437994.2_Silent_p.L1277L|CD109_ENST00000422508.2_Silent_p.L1217L			Q6YHK3	CD109_HUMAN	CD109 molecule	1294					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATGATCTCAATCATGTGG	0.328																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3829-3831)ctC>ctG		CD109 molecule							107.0	101.0	103.0					6																	74524817		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74524817C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3882C>G	6.37:g.74524817C>G						CD109_ENST00000287097.5_Silent_p.L1294L|CD109_ENST00000422508.2_Silent_p.L1217L	p.L1277L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			30	4262	+			1294					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.3831C>G	CCDS4982.1																																																																																				0.328	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		18	16	0	0	0	1	0	18	16				
XPO7	23039	broad.mit.edu	37	8	21843138	21843138	+	Missense_Mutation	SNP	G	G	A	rs568743752		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:21843138G>A	ENST00000252512.9	+	13	1613	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	XPO7_ENST00000433566.4_Missense_Mutation_p.G506S|XPO7_ENST00000434536.1_Missense_Mutation_p.G514S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	505					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCAGTGATCGGTGGCCGGGT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		17093	0.001		0.0	False		,,,				2504	0.0					ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1540-1542)Ggt>Agt		exportin 7							188.0	190.0	190.0					8																	21843138		2035	4188	6223	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21843138G>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1513G>A	8.37:g.21843138G>A	ENSP00000252512:p.Gly505Ser					XPO7_ENST00000433566.4_Missense_Mutation_p.G506S|XPO7_ENST00000252512.9_Missense_Mutation_p.G505S	p.G514S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	13	1642	+			505					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1540G>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306676	0.81247	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66460	-0.21;-0.21;-0.21	5.15	5.15	0.70609	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	M	0.71581	2.175	0.80722	D	1	P;P;P	0.43885	0.82;0.549;0.549	B;B;B	0.39379	0.298;0.185;0.185	T	0.64884	-0.6302	10	0.12430	T	0.62	-11.4608	18.5835	0.91180	0.0:0.0:1.0:0.0	.	506;514;505	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	514;505;506	ENSP00000404853:G514S;ENSP00000252512:G505S;ENSP00000410249:G506S	ENSP00000252512:G505S	G	+	1	0	XPO7	21899084	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.426000	0.97469	2.559000	0.86315	0.585000	0.79938	GGT		0.527	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		56	55	0	0	0	1	0	56	55				
TDG	6996	broad.mit.edu	37	12	104373818	104373818	+	Missense_Mutation	SNP	G	G	A	rs149084574		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:104373818G>A	ENST00000392872.3	+	3	610	c.376G>A	c.(376-378)Gat>Aat	p.D126N	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.D122N|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	126					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GACTCTCCCCGATATTTTGAC	0.353								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(376-378)Gat>Aat	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	52.0	50.0	51.0		376	5.0	0.9	12	dbSNP_134	51	0,8600		0,0,4300	no	missense	TDG	NM_003211.4	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	126/411	104373818	1,13005	2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104373818G>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.376G>A	12.37:g.104373818G>A	ENSP00000376611:p.Asp126Asn					TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.D122N	p.D126N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	3	610	+			126					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.376G>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076392	0.94000	2.27E-4	0.0	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.96	4.96	0.65561	Uracil-DNA glycosylase-like (2);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.82910	-0.0223	10	0.87932	D	0	-30.4432	18.2297	0.89931	0.0:0.0:1.0:0.0	.	126;126;126	B4DSN7;B2R848;Q13569	.;.;TDG_HUMAN	N	126;101;122;126	ENSP00000376611:D126N;ENSP00000390167:D101N;ENSP00000266775:D122N;ENSP00000439825:D126N	ENSP00000266775:D122N	D	+	1	0	TDG	102897948	1.000000	0.71417	0.927000	0.36925	0.923000	0.55619	9.487000	0.97945	2.290000	0.77057	0.557000	0.71058	GAT		0.353	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			24	28	0	0	0	1	0	24	28				
DNAH11	8701	broad.mit.edu	37	7	21639551	21639551	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:21639551G>C	ENST00000409508.3	+	15	2845	c.2814G>C	c.(2812-2814)ttG>ttC	p.L938F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L938F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	938	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAACAATTGAAACCGGCAC	0.403									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2812-2814)ttG>ttC		dynein, axonemal, heavy chain 11							85.0	81.0	82.0					7																	21639551		1837	4077	5914	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639551G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2814G>C	7.37:g.21639551G>C	ENSP00000475939:p.Leu938Phe					DNAH11_ENST00000409508.3_Missense_Mutation_p.L938F	p.L938F			Q96DT5	DYH11_HUMAN			15	2845	+			938			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2814G>C		.	.	.	.	.	.	.	.	.	.	G	4.222	0.040029	0.08148	.	.	ENSG00000105877	ENST00000328843	T	0.23552	1.9	5.58	2.64	0.31445	.	0.618279	0.14917	N	0.290903	T	0.19967	0.0480	.	.	.	0.19300	N	0.999978	P	0.47409	0.895	B	0.43575	0.424	T	0.08330	-1.0727	9	0.27785	T	0.31	.	7.605	0.28097	0.3748:0.0:0.6252:0.0	.	938	Q96DT5	DYH11_HUMAN	F	938	ENSP00000330671:L938F	ENSP00000330671:L938F	L	+	3	2	DNAH11	21606076	0.057000	0.20700	0.232000	0.24009	0.092000	0.18411	0.754000	0.26390	0.319000	0.23209	-0.291000	0.09656	TTG		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	40	0	0	0	1	0	4	40				
C5orf58	133874	broad.mit.edu	37	5	169672989	169672989	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:169672989G>C	ENST00000521850.1	+	3	1870	c.181G>C	c.(181-183)Gac>Cac	p.D61H	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.D61H			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	61										large_intestine(1)|lung(4)|urinary_tract(1)	6						ATTGCTTTGTGACCTTATCCT	0.343																																						ENST00000521850.1																			0				large_intestine(1)|lung(4)|urinary_tract(1)	6						c.(181-183)Gac>Cac		chromosome 5 open reading frame 58							177.0	173.0	174.0					5																	169672989		1847	4097	5944	SO:0001583	missense	133874							g.chr5:169672989G>C	BC030767	CCDS47338.1	5q35.1	2009-09-30			ENSG00000234511	ENSG00000234511			37272	protein-coding gene	gene with protein product							Standard	NM_001102609		Approved		uc010jjn.3	C9J3I9	OTTHUMG00000163122	ENST00000521850.1:c.181G>C	5.37:g.169672989G>C	ENSP00000428956:p.Asp61His					C5orf58_ENST00000593851.1_Missense_Mutation_p.D61H|C5orf58_ENST00000517575.1_Intron	p.D61H			C9J3I9	CE058_HUMAN			3	1870	+			61						Missense_Mutation	SNP	ENST00000521850.1	37	c.181G>C	CCDS47338.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549855	0.45383	.	.	ENSG00000234511	ENST00000521850	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	T	0.60856	0.2301	N	0.19112	0.55	0.32990	D	0.524807	D	0.89917	1.0	D	0.97110	1.0	T	0.69335	-0.5172	8	0.87932	D	0	.	16.8923	0.86090	0.0:0.0:1.0:0.0	.	61	C9J3I9	CE058_HUMAN	H	61	.	ENSP00000428956:D61H	D	+	1	0	C5orf58	169605567	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	5.750000	0.68712	2.768000	0.95171	0.655000	0.94253	GAC		0.343	C5orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371739.1	NM_001102609		25	71	0	0	0	1	0	25	71				
ANO10	55129	broad.mit.edu	37	3	43618486	43618486	+	Missense_Mutation	SNP	C	C	T	rs571306863		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:43618486C>T	ENST00000292246.3	-	6	1030	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ANO10_ENST00000396091.3_Missense_Mutation_p.G221E|ANO10_ENST00000451430.2_Missense_Mutation_p.G176E|ANO10_ENST00000414522.2_Missense_Mutation_p.G287E|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	287					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.G287E(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ACCATGAAATCCTGGCCGGGG	0.542																																						ENST00000292246.3																			1	Substitution - Missense(1)	p.G287E(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						c.(859-861)gGa>gAa		anoctamin 10							77.0	73.0	74.0					3																	43618486		2203	4300	6503	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43618486C>T	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.860G>A	3.37:g.43618486C>T	ENSP00000292246:p.Gly287Glu					ANO10_ENST00000350459.4_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.G287E|ANO10_ENST00000396091.3_Missense_Mutation_p.G221E|ANO10_ENST00000451430.2_Missense_Mutation_p.G176E	p.G287E	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN			6	1030	-			287					A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.860G>A	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771291	0.69992	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	N	0.13003	0.285	0.58432	D	0.999997	P;P;P;D	0.56746	0.926;0.95;0.845;0.977	P;P;P;P	0.61722	0.749;0.836;0.646;0.893	T	0.47071	-0.9145	10	0.02654	T	1	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	176;287;221;287	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	E	287;221;287;176	ENSP00000292246:G287E;ENSP00000379398:G221E;ENSP00000396990:G287E;ENSP00000394119:G176E	ENSP00000292246:G287E	G	-	2	0	ANO10	43593490	1.000000	0.71417	0.049000	0.19019	0.888000	0.51559	7.818000	0.86416	2.668000	0.90789	0.655000	0.94253	GGA		0.542	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		34	20	0	0	0	1	0	34	20				
KCNAB1	7881	broad.mit.edu	37	3	156175318	156175318	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:156175318G>A	ENST00000490337.1	+	4	498	c.434G>A	c.(433-435)gGa>gAa	p.G145E	KCNAB1_ENST00000302490.8_Missense_Mutation_p.G127E|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G134E|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G127E|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G145E|KCNAB1_ENST00000497291.1_3'UTR	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	145					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TATGCTGCTGGAAAGTAAGTC	0.473																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(379-381)gGa>gAa		potassium voltage-gated channel, shaker-related subfamily, beta member 1							229.0	199.0	209.0					3																	156175318		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156175318G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.434G>A	3.37:g.156175318G>A	ENSP00000419952:p.Gly145Glu					KCNAB1_ENST00000490337.1_Missense_Mutation_p.G145E|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G134E|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G127E|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G145E	p.G127E	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	1251	+			145					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.380G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621990	0.87460	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.48	5.48	0.80851	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	H	0.94886	3.595	0.80722	D	1	P;D;D;D;D	0.69078	0.933;0.974;0.997;0.991;0.988	P;P;D;D;D	0.80764	0.838;0.843;0.994;0.985;0.987	T	0.78858	-0.2038	10	0.87932	D	0	-12.8027	14.8543	0.70323	0.0:0.0:1.0:0.0	.	145;127;127;134;145	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	E	63;145;145;134;88;127;127	ENSP00000420755:G63E;ENSP00000419952:G145E;ENSP00000374287:G145E;ENSP00000418956:G134E;ENSP00000420221:G88E;ENSP00000305858:G127E;ENSP00000374285:G127E	ENSP00000305858:G127E	G	+	2	0	KCNAB1	157658012	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.919000	0.87513	2.554000	0.86153	0.655000	0.94253	GGA		0.473	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		29	153	0	0	0	1	0	29	153				
NSUN2	54888	broad.mit.edu	37	5	6620227	6620227	+	Silent	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:6620227G>T	ENST00000264670.6	-	7	1118	c.807C>A	c.(805-807)gtC>gtA	p.V269V	NSUN2_ENST00000539938.1_Silent_p.V33V|NSUN2_ENST00000506139.1_Silent_p.V234V|NSUN2_ENST00000505264.1_5'Flank	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	269					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGCAAGGGACATCACATA	0.408																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(805-807)gtC>gtA		NOP2/Sun RNA methyltransferase family, member 2							99.0	97.0	97.0					5																	6620227		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6620227G>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.807C>A	5.37:g.6620227G>T						NSUN2_ENST00000539938.1_Silent_p.V33V|NSUN2_ENST00000506139.1_Silent_p.V234V	p.V269V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			7	1118	-			269					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.807C>A	CCDS3869.1																																																																																				0.408	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		18	57	1	0	0.000566183	1	0.00057044	18	57				
CCDC105	126402	broad.mit.edu	37	19	15131272	15131272	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:15131272G>A	ENST00000292574.3	+	3	757		c.e3-1			NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105							extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCCCACCCAGACCCTGGCCT	0.572																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.e3-1		coiled-coil domain containing 105							34.0	31.0	32.0					19																	15131272		2203	4300	6503	SO:0001630	splice_region_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131272G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.676-1G>A	19.37:g.15131272G>A								NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	757	+								Q8N7T5|Q8NDL5	Splice_Site	SNP	ENST00000292574.3	37		CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278195	0.23307	.	.	ENSG00000160994	ENST00000292574	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2139	0.54396	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC105	14992272	1.000000	0.71417	0.806000	0.32338	0.203000	0.24098	4.722000	0.61958	1.982000	0.57802	0.558000	0.71614	.		0.572	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	Intron	16	19	0	0	0	1	0	16	19				
ZNF284	342909	broad.mit.edu	37	19	44589927	44589927	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:44589927C>G	ENST00000421176.3	+	5	512	c.296C>G	c.(295-297)tCt>tGt	p.S99C	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	99					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)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAAGAGTGGTCTTGCCAGCAA	0.463																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(295-297)tCt>tGt		zinc finger protein 284							96.0	94.0	95.0					19																	44589927		2203	4300	6503	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44589927C>G	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.296C>G	19.37:g.44589927C>G	ENSP00000411032:p.Ser99Cys					ZNF223_ENST00000591793.1_3'UTR	p.S99C	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	512	+		Prostate(69;0.0435)	99					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.296C>G	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464913	0.26335	.	.	ENSG00000186026	ENST00000421176	T	0.05925	3.37	1.94	-1.15	0.09709	.	.	.	.	.	T	0.11580	0.0282	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	P	0.60886	0.88	T	0.18999	-1.0319	9	0.49607	T	0.09	.	4.5382	0.12043	0.0:0.4451:0.0:0.5549	.	99	Q2VY69	ZN284_HUMAN	C	99	ENSP00000411032:S99C	ENSP00000411032:S99C	S	+	2	0	ZNF284	49281767	0.000000	0.05858	0.003000	0.11579	0.197000	0.23852	-1.374000	0.02566	-0.231000	0.09825	0.462000	0.41574	TCT		0.463	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		39	50	0	0	0	1	0	39	50				
SRSF3	6428	broad.mit.edu	37	6	36566676	36566676	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:36566676G>C	ENST00000373715.6	+	3	373	c.257G>C	c.(256-258)aGa>aCa	p.R86T	SRSF3_ENST00000339436.7_Missense_Mutation_p.R86T	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	86	Arg/Ser-rich (RS domain).|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GGTGAAAAAAGAAGTAGAAAT	0.498																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(256-258)aGa>aCa		serine/arginine-rich splicing factor 3							149.0	139.0	142.0					6																	36566676		2203	4300	6503	SO:0001583	missense	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36566676G>C	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.257G>C	6.37:g.36566676G>C	ENSP00000362820:p.Arg86Thr					SRSF3_ENST00000339436.7_Missense_Mutation_p.R86T	p.R86T	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			3	373	+			86			Arg/Ser-rich (RS domain).		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	ENST00000373715.6	37	c.257G>C	CCDS4823.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267004	0.80469	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.74632	0.97;-0.86	5.59	5.59	0.84812	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.66506	2.035	0.80722	D	1	P;P	0.48350	0.909;0.909	P;P	0.60789	0.587;0.879	T	0.83180	-0.0089	10	0.72032	D	0.01	.	19.5798	0.95461	0.0:0.0:1.0:0.0	.	86;86	B4E241;P84103	.;SRSF3_HUMAN	T	86	ENSP00000362820:R86T;ENSP00000344762:R86T	ENSP00000344762:R86T	R	+	2	0	SRSF3	36674654	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.622000	0.88805	0.563000	0.77884	AGA		0.498	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		41	66	0	0	0	1	0	41	66				
MDP1	145553	broad.mit.edu	37	14	24684830	24684830	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:24684830C>G	ENST00000288087.7	-	3	248	c.137G>C	c.(136-138)cGa>cCa	p.R46P	TM9SF1_ENST00000556387.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000609024.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R63P|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000396833.2_Missense_Mutation_p.R46P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	46						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						TGGGTACAGTCGGACGTCTTG	0.597											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000288087.7																			0				breast(2)|large_intestine(2)|lung(3)	7						c.(136-138)cGa>cCa		magnesium-dependent phosphatase 1							176.0	184.0	181.0					14																	24684830		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24684830C>G	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.137G>C	14.37:g.24684830C>G	ENSP00000288087:p.Arg46Pro		OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	773	NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R63P|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.R46P	p.R46P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2					3	248	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.137G>C	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207427	0.39003	.	.	ENSG00000213920;ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000396833;ENST00000534348	D;D;D	0.97279	-4.32;-4.32;-4.32	5.01	0.965	0.19661	HAD-like domain (2);HAD-superfamily phosphatase, subfamily IIIC (1);	.	.	.	.	D	0.92645	0.7663	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17465	0.022;0.003;0.013	B;B;B	0.20577	0.03;0.003;0.006	D	0.83659	0.0160	9	0.30078	T	0.28	-0.5066	7.8945	0.29697	0.0:0.5386:0.0:0.4614	.	46;46;46	Q86V88-3;Q86V88;Q86V88-2	.;MGDP1_HUMAN;.	P	46;46;63	ENSP00000288087:R46P;ENSP00000380045:R46P;ENSP00000431482:R63P	ENSP00000288087:R46P	R	-	2	0	MDP1;NEDD8-MDP1	23754670	0.000000	0.05858	0.017000	0.16124	0.994000	0.84299	-0.387000	0.07361	-0.027000	0.13873	0.655000	0.94253	CGA		0.597	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476		113	218	0	0	0	1	0	113	218				
PHACTR2	9749	broad.mit.edu	37	6	144086551	144086551	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:144086551A>G	ENST00000427704.2	+	6	945	c.815A>G	c.(814-816)aAg>aGg	p.K272R	PHACTR2_ENST00000305766.6_Missense_Mutation_p.K192R|PHACTR2_ENST00000440869.2_Missense_Mutation_p.K283R|PHACTR2_ENST00000367582.3_Missense_Mutation_p.K203R|PHACTR2_ENST00000367584.4_Missense_Mutation_p.K260R	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	272							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAAACTGACAAGCAGCCAATA	0.502																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(814-816)aAg>aGg		phosphatase and actin regulator 2							84.0	90.0	88.0					6																	144086551		2002	4182	6184	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086551A>G	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.815A>G	6.37:g.144086551A>G	ENSP00000391763:p.Lys272Arg					PHACTR2_ENST00000367582.3_Missense_Mutation_p.K203R|PHACTR2_ENST00000440869.2_Missense_Mutation_p.K283R|PHACTR2_ENST00000305766.6_Missense_Mutation_p.K192R|PHACTR2_ENST00000367584.4_Missense_Mutation_p.K260R	p.K272R	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	945	+			272					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.815A>G	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924981	0.52759	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000542769;ENST00000367583	T;T;T;T;T;T	0.59502	1.35;1.79;1.38;1.79;1.37;0.26	5.22	4.07	0.47477	.	0.545556	0.21195	N	0.078565	T	0.34193	0.0889	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.15930	0.015;0.015;0.015;0.009	B;B;B;B	0.19946	0.027;0.027;0.027;0.012	T	0.17715	-1.0360	10	0.30854	T	0.27	.	9.2203	0.37373	0.9185:0.0:0.0815:0.0	.	283;192;203;272	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	R	260;272;192;283;203;150;147;150	ENSP00000356556:K260R;ENSP00000391763:K272R;ENSP00000305530:K192R;ENSP00000417038:K283R;ENSP00000356554:K203R;ENSP00000442153:K147R	ENSP00000305530:K192R	K	+	2	0	PHACTR2	144128244	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	4.438000	0.59961	0.858000	0.35431	0.533000	0.62120	AAG		0.502	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		12	96	0	0	0	1	0	12	96				
PTEN	5728	broad.mit.edu	37	10	89653781	89653781	+	Splice_Site	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:89653781G>C	ENST00000371953.3	+	2	1436		c.e2-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGTACTCAGATATTTATCC	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		41	Whole gene deletion(37)|Unknown(4)	p.0?(37)|p.?(4)	prostate(14)|central_nervous_system(8)|skin(6)|lung(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e2-1		phosphatase and tensin homolog							96.0	96.0	96.0					10																	89653781		2203	4293	6496	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653781G>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.80-1G>C	10.37:g.89653781G>C		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)						NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1436	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37		CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201884	0.79127	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4682	0.87639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89643761	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.018000	0.93657	2.421000	0.82119	0.655000	0.94253	.		0.303	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron	17	16	0	0	0	1	0	17	16				
THEMIS2	9473	broad.mit.edu	37	1	28203138	28203138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:28203138C>T	ENST00000373921.3	+	2	138	c.134C>T	c.(133-135)tCc>tTc	p.S45F	THEMIS2_ENST00000373925.1_Missense_Mutation_p.S45F|THEMIS2_ENST00000373927.3_Missense_Mutation_p.S45F|THEMIS2_ENST00000328928.7_Missense_Mutation_p.S45F	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	45	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGCTGCCTCTCCACGGGGGAC	0.602																																						ENST00000373921.3																			0											c.(133-135)tCc>tTc		thymocyte selection associated family member 2							109.0	103.0	105.0					1																	28203138		2203	4300	6503	SO:0001583	missense	9473							g.chr1:28203138C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.134C>T	1.37:g.28203138C>T	ENSP00000363031:p.Ser45Phe					THEMIS2_ENST00000373927.3_Missense_Mutation_p.S45F|THEMIS2_ENST00000328928.7_Missense_Mutation_p.S45F|THEMIS2_ENST00000373925.1_Missense_Mutation_p.S45F	p.S45F	NM_001105556.1	NP_001099026.1					2	138	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.134C>T	CCDS41290.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279082	0.40294	.	.	ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373927;ENST00000442118;ENST00000373921	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.79926	2.475	0.49915	D	0.999839	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.971;0.983;0.975;0.986;0.991	T	0.51679	-0.8675	10	0.87932	D	0	-41.931	15.4485	0.75253	0.0:0.8606:0.1394:0.0	.	45;45;45;45;45	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8;Q5TEJ8-4;Q5TEJ8-2	.;.;THMS2_HUMAN;.;.	F	45	ENSP00000363035:S45F;ENSP00000329862:S45F;ENSP00000363037:S45F;ENSP00000413725:S45F;ENSP00000363031:S45F	ENSP00000329862:S45F	S	+	2	0	C1orf38	28075725	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	5.142000	0.64820	1.381000	0.46364	-0.156000	0.13503	TCC		0.602	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		50	74	0	0	0	1	0	50	74				
PCED1B	91523	broad.mit.edu	37	12	47629426	47629426	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:47629426G>A	ENST00000546455.1	+	4	1311	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.V194I			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	194							hydrolase activity (GO:0016787)										AAACGAAGTGGTCAAAGCCAA	0.582																																						ENST00000546455.1																			0											c.(580-582)Gtc>Atc		PC-esterase domain containing 1B							34.0	27.0	29.0					12																	47629426		2203	4299	6502	SO:0001583	missense	91523							g.chr12:47629426G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.580G>A	12.37:g.47629426G>A	ENSP00000446688:p.Val194Ile					PCED1B_ENST00000432328.1_Missense_Mutation_p.V194I	p.V194I							4	1311	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.580G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634472	0.29068	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.16457	2.34;2.34;2.34	4.15	-6.64	0.01801	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.431851	0.20363	N	0.093814	T	0.06050	0.0157	N	0.13043	0.29	0.09310	N	1	B	0.21225	0.053	B	0.22601	0.04	T	0.18398	-1.0338	10	0.25751	T	0.34	-4.716	4.1341	0.10162	0.5841:0.1052:0.2055:0.1052	.	194	Q96HM7	F113B_HUMAN	I	194;194;74;74	ENSP00000446688:V194I;ENSP00000396040:V194I;ENSP00000448693:V74I	ENSP00000328560:V74I	V	+	1	0	FAM113B	45915693	0.987000	0.35691	0.000000	0.03702	0.400000	0.30750	0.523000	0.22925	-1.504000	0.01810	0.561000	0.74099	GTC		0.582	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		10	20	0	0	0	1	0	10	20				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	50	0	0	0	1	0	5	50				
SPDEF	25803	broad.mit.edu	37	6	34512084	34512084	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:34512084G>A	ENST00000374037.3	-	2	563	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SPDEF_ENST00000544425.1_Missense_Mutation_p.T50M	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	50					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTGCTCGGGCGTGGCGGGTGG	0.687																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(148-150)aCg>aTg		SAM pointed domain containing ETS transcription factor							33.0	37.0	36.0					6																	34512084		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34512084G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.149C>T	6.37:g.34512084G>A	ENSP00000363149:p.Thr50Met					SPDEF_ENST00000544425.1_Missense_Mutation_p.T50M	p.T50M	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			2	563	-			50					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.149C>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387411	0.42308	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.18016	2.24;2.36	4.97	4.04	0.47022	.	0.586348	0.15230	N	0.273494	T	0.09379	0.0231	L	0.27053	0.805	0.33077	D	0.536148	D;P	0.53619	0.961;0.935	P;B	0.46076	0.503;0.306	T	0.05084	-1.0907	10	0.87932	D	0	.	14.7441	0.69477	0.0:0.1453:0.8547:0.0	.	50;50	F5H778;O95238	.;SPDEF_HUMAN	M	50	ENSP00000363149:T50M;ENSP00000442715:T50M	ENSP00000363149:T50M	T	-	2	0	SPDEF	34620062	1.000000	0.71417	0.924000	0.36721	0.277000	0.26821	4.159000	0.58157	2.286000	0.76751	0.591000	0.81541	ACG		0.687	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		24	58	0	0	0	1	0	24	58				
OR4M2	390538	broad.mit.edu	37	15	22369190	22369190	+	Silent	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:22369190G>T	ENST00000332663.2	+	1	713	c.615G>T	c.(613-615)ctG>ctT	p.L205L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAGTGGTCTGATCTCTGTGG	0.468																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(613-615)ctG>ctT		olfactory receptor, family 4, subfamily M, member 2							632.0	436.0	503.0					15																	22369190		2203	4300	6503	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369190G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.615G>T	15.37:g.22369190G>T						RP11-69H14.6_ENST00000558896.1_RNA	p.L205L	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	713	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	205					B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.615G>T	CCDS32172.1																																																																																				0.468	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			45	113	1	0	9.52127e-25	1	1.04578e-24	45	113				
MACF1	23499	broad.mit.edu	37	1	39800890	39800890	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:39800890C>G	ENST00000372915.3	+	36	8732	c.8645C>G	c.(8644-8646)tCc>tGc	p.S2882C	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.S2877C|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1317C|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2914C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2882					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGGTAAATCCTTGGGCCAA	0.353																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8629-8631)tCc>tGc		microtubule-actin crosslinking factor 1							69.0	75.0	73.0					1																	39800890		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800890C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8645C>G	1.37:g.39800890C>G	ENSP00000362006:p.Ser2882Cys					MACF1_ENST00000567887.1_Missense_Mutation_p.S2914C|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1317C|MACF1_ENST00000372915.3_Missense_Mutation_p.S2882C	p.S2877C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	9407	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2882					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8630C>G		.	.	.	.	.	.	.	.	.	.	C	9.140	1.013615	0.19277	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.65364	-0.15;0.9	4.94	4.0	0.46444	.	1.623700	0.03476	N	0.214326	T	0.62183	0.2407	L	0.27053	0.805	0.09310	N	0.999992	P	0.50710	0.938	P	0.50791	0.65	T	0.55811	-0.8082	10	0.72032	D	0.01	.	9.4284	0.38595	0.0:0.9:0.0:0.1	.	2882	Q9UPN3	MACF1_HUMAN	C	2882;1317	ENSP00000362006:S2882C;ENSP00000289893:S1317C	ENSP00000289893:S1317C	S	+	2	0	MACF1	39573477	0.000000	0.05858	0.026000	0.17262	0.106000	0.19336	0.219000	0.17641	2.558000	0.86282	0.591000	0.81541	TCC		0.353	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		24	44	0	0	0	1	0	24	44				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	168	0	0	0	1	0	4	168				
TTN	7273	broad.mit.edu	37	2	179452442	179452442	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:179452442C>T	ENST00000591111.1	-	256	58895	c.58671G>A	c.(58669-58671)gtG>gtA	p.V19557V	TTN_ENST00000589042.1_Silent_p.V21198V|TTN_ENST00000342992.6_Silent_p.V18630V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.V12133V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V12325V|TTN_ENST00000359218.5_Silent_p.V12258V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19557	Ig-like 109.				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)			GTCGTCCTCTCACTATAGCAA	0.463																																						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.(63592-63594)gtG>gtA		titin							61.0	59.0	59.0					2																	179452442		1936	4129	6065	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452442C>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.58671G>A	2.37:g.179452442C>T						TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V12258V|TTN_ENST00000460472.2_Silent_p.V12133V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V19557V|TTN_ENST00000342175.6_Silent_p.V12325V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.V18630V	p.V21198V	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)		306	63818	-			19557					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.63594G>A																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	25	0	0	0	1	0	20	25				
MAGI1	9223	broad.mit.edu	37	3	65387126	65387126	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:65387126C>G	ENST00000497477.2	-	13	2186	c.2187G>C	c.(2185-2187)aaG>aaC	p.K729N	MAGI1_ENST00000483466.1_Missense_Mutation_p.K729N|MAGI1_ENST00000330909.8_Missense_Mutation_p.K729N|MAGI1_ENST00000402939.2_Missense_Mutation_p.K729N			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	729					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACTTTGGGCTCTTCTTGGGAA	0.512																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2185-2187)aaG>aaC		membrane associated guanylate kinase, WW and PDZ domain containing 1							40.0	37.0	38.0					3																	65387126		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65387126C>G	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2187G>C	3.37:g.65387126C>G	ENSP00000424369:p.Lys729Asn					MAGI1_ENST00000497477.2_Missense_Mutation_p.K729N|MAGI1_ENST00000483466.1_Missense_Mutation_p.K729N|MAGI1_ENST00000402939.2_Missense_Mutation_p.K729N	p.K729N	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	13	2186	-		Lung NSC(201;0.0016)	729					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2187G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.57|14.57	2.575568|2.575568	0.45902|0.45902	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95;0.95|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.095616|.	0.64402|.	D|.	0.000001|.	T|T	0.74427|0.74427	0.3715|0.3715	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B;P;P;B|.	0.36315|.	0.004;0.515;0.547;0.214|.	B;B;B;B|.	0.42112|.	0.011;0.268;0.376;0.161|.	T|T	0.68808|0.68808	-0.5311|-0.5311	10|5	0.44086|.	T|.	0.13|.	-30.7565|-30.7565	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	729;729;729;729|.	Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.|.	N|T	729;729;625;604;729;729;515|610	ENSP00000385450:K729N;ENSP00000331157:K729N;ENSP00000418177:K604N;ENSP00000420323:K729N;ENSP00000424369:K729N;ENSP00000420796:K515N|.	ENSP00000331157:K729N|.	K|R	-|-	3|2	2|0	MAGI1|MAGI1	65362166|65362166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.088000|4.088000	0.57678|0.57678	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.512	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		3	3	0	0	0	1	0	3	3				
CUBN	8029	broad.mit.edu	37	10	16882430	16882430	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:16882430C>G	ENST00000377833.4	-	62	9996	c.9931G>C	c.(9931-9933)Gat>Cat	p.D3311H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3311	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGGGGAATCAATGACCCAA	0.473																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9931-9933)Gat>Cat		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						152.0	139.0	144.0					10																	16882430		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882430C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9931G>C	10.37:g.16882430C>G	ENSP00000367064:p.Asp3311His						p.D3311H	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	9996	-			3311			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9931G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745108	0.30955	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.18174	2.23	4.74	3.82	0.43975	CUB (5);	0.597817	0.13802	N	0.361768	T	0.32102	0.0818	L	0.42245	1.32	0.80722	D	1	D	0.64830	0.994	P	0.62885	0.908	T	0.01504	-1.1338	10	0.46703	T	0.11	.	14.6929	0.69098	0.0:0.8539:0.1461:0.0	.	3311	O60494	CUBN_HUMAN	H	3311;152	ENSP00000367064:D3311H	ENSP00000367064:D3311H	D	-	1	0	CUBN	16922436	0.997000	0.39634	0.009000	0.14445	0.032000	0.12392	4.518000	0.60510	0.947000	0.37659	0.561000	0.74099	GAT		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	38	0	0	0	1	0	13	38				
FAM71E1	112703	broad.mit.edu	37	19	50978706	50978706	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:50978706G>A	ENST00000600100.1	-	3	779	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	FAM71E1_ENST00000595790.1_Missense_Mutation_p.R123W|EMC10_ENST00000598585.1_5'Flank|EMC10_ENST00000376918.3_5'Flank|EMC10_ENST00000334976.6_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	139										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TCTCCCAACCGAGTCACCTGG	0.612																																						ENST00000600100.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(415-417)Cgg>Tgg		family with sequence similarity 71, member E1							21.0	23.0	22.0					19																	50978706		2203	4297	6500	SO:0001583	missense	112703							g.chr19:50978706G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.415C>T	19.37:g.50978706G>A	ENSP00000472421:p.Arg139Trp					FAM71E1_ENST00000595790.1_Missense_Mutation_p.R123W	p.R139W			Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	779	-		all_neural(266;0.131)	139					Q96EJ5|Q9BSM9	Missense_Mutation	SNP	ENST00000600100.1	37	c.415C>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278120	0.59758	.	.	ENSG00000142530	ENST00000391816;ENST00000270620	T;T	0.14266	2.66;2.52	4.49	3.43	0.39272	.	0.408346	0.21993	N	0.066138	T	0.28995	0.0720	L	0.52905	1.665	0.32365	N	0.556672	D;D	0.89917	1.0;1.0	D;D	0.72338	0.965;0.977	T	0.31641	-0.9936	10	0.87932	D	0	-22.0029	9.9783	0.41797	0.0:0.0:0.633:0.367	.	139;123	Q6IPT2;Q6IPT2-2	F71E1_HUMAN;.	W	139;123	ENSP00000375692:R139W;ENSP00000270620:R123W	ENSP00000270620:R123W	R	-	1	2	FAM71E1	55670518	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.284000	0.43478	0.998000	0.38996	0.462000	0.41574	CGG		0.612	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2			10	20	0	0	0	1	0	10	20				
GUCY2C	2984	broad.mit.edu	37	12	14794080	14794080	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:14794080G>C	ENST00000261170.3	-	18	2140	c.2004C>G	c.(2002-2004)atC>atG	p.I668M		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCTGTGCGATGATCCCATAGC	0.493																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2002-2004)atC>atG		guanylate cyclase 2C (heat stable enterotoxin receptor)							150.0	113.0	125.0					12																	14794080		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14794080G>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2004C>G	12.37:g.14794080G>C	ENSP00000261170:p.Ile668Met						p.I668M	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			18	2140	-			668			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2004C>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061284	0.36373	.	.	ENSG00000070019	ENST00000261170	D	0.85484	-1.99	5.34	3.39	0.38822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048350	0.85682	D	0.000000	D	0.82655	0.5084	L	0.42744	1.35	0.53005	D	0.999967	P	0.48834	0.916	P	0.53266	0.722	T	0.81609	-0.0855	10	0.87932	D	0	.	3.2306	0.06747	0.1513:0.138:0.5683:0.1424	.	668	P25092	GUC2C_HUMAN	M	668	ENSP00000261170:I668M	ENSP00000261170:I668M	I	-	3	3	GUCY2C	14685347	1.000000	0.71417	0.995000	0.50966	0.168000	0.22595	3.329000	0.52060	1.248000	0.43934	-0.150000	0.13652	ATC		0.493	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			23	74	0	0	0	1	0	23	74				
EXOC4	60412	broad.mit.edu	37	7	133682384	133682384	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:133682384G>C	ENST00000253861.4	+	15	2375	c.2346G>C	c.(2344-2346)gtG>gtC	p.V782V	EXOC4_ENST00000541309.1_Silent_p.V70V|EXOC4_ENST00000545148.1_Silent_p.V392V|EXOC4_ENST00000539845.1_Silent_p.V681V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	782					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCTGGAAGTGAGGTATGATA	0.478																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(2344-2346)gtG>gtC		exocyst complex component 4							91.0	72.0	78.0					7																	133682384		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133682384G>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2346G>C	7.37:g.133682384G>C						EXOC4_ENST00000545148.1_Silent_p.V392V|EXOC4_ENST00000539845.1_Silent_p.V681V|EXOC4_ENST00000541309.1_Silent_p.V70V	p.V782V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			15	2375	+		Esophageal squamous(399;0.129)	782					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.2346G>C	CCDS5829.1																																																																																				0.478	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		8	19	0	0	0	1	0	8	19				
APOM	55937	broad.mit.edu	37	6	31625865	31625865	+	Nonstop_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:31625865G>C	ENST00000375916.3	+	6	1062	c.566G>C	c.(565-567)tGa>tCa	p.*189S	APOM_ENST00000375920.4_Nonstop_Mutation_p.*117S|C6orf47-AS1_ENST00000422049.1_RNA	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TCCAATAACTGACCTGTAACT	0.502																																					Colon(39;129 858 13764 41453 42617)	ENST00000375916.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						c.(565-567)tGa>tCa		apolipoprotein M							175.0	165.0	168.0					6																	31625865		2203	4300	6503	SO:0001578	stop_lost	55937				cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity	g.chr6:31625865G>C	AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"""Apolipoproteins"", ""Lipocalins"""	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.566G>C	6.37:g.31625865G>C	ENSP00000365081:p.*189Serext*15					APOM_ENST00000375920.4_Nonstop_Mutation_p.*117S	p.*189S	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN			6	1062	+			0					B0UX98|Q5SRP4|Q9P046|Q9UMP6	Nonstop_Mutation	SNP	ENST00000375916.3	37	c.566G>C	CCDS4710.1	.	.	.	.	.	.	.	.	.	.	G	9.968	1.224754	0.22457	.	.	ENSG00000204444	ENST00000375920;ENST00000375916	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.116	0.59299	0.0:0.0:1.0:0.0	.	.	.	.	S	117;189	.	.	X	+	2	2	APOM	31733844	1.000000	0.71417	0.957000	0.39632	0.049000	0.14656	4.509000	0.60448	2.466000	0.83321	0.462000	0.41574	TGA		0.502	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076527.3	NM_019101		13	55	0	0	0	1	0	13	55				
KIF21A	55605	broad.mit.edu	37	12	39695412	39695412	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:39695412T>A	ENST00000361418.5	-	37	4816	c.4801A>T	c.(4801-4803)Agt>Tgt	p.S1601C	KIF21A_ENST00000395670.3_Missense_Mutation_p.S1602C|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1564C|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1588C|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1548C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1601					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCAGCCACTGAGCAAAACT	0.458																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(4804-4806)Agt>Tgt		kinesin family member 21A							142.0	148.0	146.0					12																	39695412		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39695412T>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4801A>T	12.37:g.39695412T>A	ENSP00000354878:p.Ser1601Cys					KIF21A_ENST00000361418.5_Missense_Mutation_p.S1601C|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1588C|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1548C|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1564C	p.S1602C			Q7Z4S6	KI21A_HUMAN			36	5223	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1601					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.4804A>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788363	0.70337	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.71	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.56097	D	0.000028	D	0.88377	0.6420	H	0.97758	4.07	0.48135	D	0.999593	D;B;D;D;D;D	0.89917	0.999;0.025;1.0;0.999;1.0;1.0	D;B;D;D;D;D	0.91635	0.995;0.018;0.999;0.951;0.996;0.986	D	0.89634	0.3857	10	0.87932	D	0	.	10.5141	0.44879	0.1453:0.0:0.0:0.8547	.	1564;1548;1601;1588;1554;588	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	C	1588;1602;1554;588;582;1564;1601;1548	ENSP00000354851:S1588C;ENSP00000379029:S1602C;ENSP00000448792:S582C;ENSP00000445606:S1564C;ENSP00000354878:S1601C;ENSP00000438075:S1548C	ENSP00000344501:S1554C	S	-	1	0	KIF21A	37981679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.789000	0.62446	0.780000	0.33566	0.528000	0.53228	AGT		0.458	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		73	146	0	0	0	1	0	73	146				
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42536672	42536672	+	RNA	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42536672C>G	ENST00000416037.2	+	0	8970				CYP2D7P1_ENST00000358097.4_RNA|RP4-669P10.16_ENST00000428786.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA	NR_034118.1				NDUFA6 antisense RNA 1 (head to head)																		CCTCATCCTTCAGCACCGATG	0.602																																						ENST00000435101.1																			0				endometrium(1)	1																																														1564							g.chr22:42536672C>G	BC039542		22q13.2	2013-03-18	2013-03-18		ENSG00000237037	ENSG00000237037		"""Long non-coding RNAs"""	45273	non-coding RNA	RNA, long non-coding							Standard	NR_034118		Approved		uc003bcd.1		OTTHUMG00000150917		22.37:g.42536672C>G						CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA								0	331	-									RNA	SNP	ENST00000416037.2	37																																																																																						0.602	NDUFA6-AS1-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000320522.4	NR_034118		8	31	0	0	0	1	0	8	31				
P2RX7	5027	broad.mit.edu	37	12	121613222	121613222	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:121613222G>C	ENST00000546057.1	+	9	1056	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	P2RX7_ENST00000328963.5_Missense_Mutation_p.E135Q|P2RX7_ENST00000535250.1_Missense_Mutation_p.E215Q|P2RX7_ENST00000541446.1_Missense_Mutation_p.E16Q|P2RX7_ENST00000377162.2_Missense_Mutation_p.E216Q|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	305					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAACAATGTTGAGAAACGGAC	0.433																																						ENST00000328963.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(403-405)Gag>Cag		purinergic receptor P2X, ligand-gated ion channel, 7							134.0	117.0	123.0					12																	121613222		2203	4300	6503	SO:0001583	missense	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121613222G>C	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.913G>C	12.37:g.121613222G>C	ENSP00000442349:p.Glu305Gln					P2RX7_ENST00000546057.1_Missense_Mutation_p.E305Q|P2RX7_ENST00000541446.1_Missense_Mutation_p.E16Q|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.E215Q|P2RX7_ENST00000377162.2_Missense_Mutation_p.E216Q	p.E135Q			A8K2Z0	A8K2Z0_HUMAN			8	857	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		305					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	ENST00000546057.1	37	c.403G>C	CCDS9213.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269091	0.59540	.	.	ENSG00000089041	ENST00000546057;ENST00000377162;ENST00000328963;ENST00000535250;ENST00000541446	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	5.64	5.64	0.86602	.	0.237063	0.29594	N	0.011707	T	0.28699	0.0711	M	0.80508	2.5	0.42723	D	0.993683	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;P;D;D	0.83275	0.955;0.892;0.956;0.996	T	0.01033	-1.1474	10	0.87932	D	0	.	17.2054	0.86916	0.0:0.0:1.0:0.0	.	135;16;215;305	F8W951;F5H6P2;F5H7E8;Q99572	.;.;.;P2RX7_HUMAN	Q	305;216;135;215;16	ENSP00000442349:E305Q;ENSP00000366367:E216Q;ENSP00000330696:E135Q;ENSP00000442572:E215Q;ENSP00000437471:E16Q	ENSP00000330696:E135Q	E	+	1	0	P2RX7	120097605	1.000000	0.71417	0.917000	0.36280	0.983000	0.72400	7.757000	0.85209	2.673000	0.90976	0.555000	0.69702	GAG		0.433	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		18	35	0	0	0	1	0	18	35				
POLR2G	5436	broad.mit.edu	37	11	62529308	62529308	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:62529308C>A	ENST00000301788.7	+	2	159	c.54C>A	c.(52-54)ttC>ttA	p.F18L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	18					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						CGCGCTACTTCGGCCCCAACT	0.607																																						ENST00000301788.7																			0				lung(3)	3						c.(52-54)ttC>ttA		polymerase (RNA) II (DNA directed) polypeptide G							147.0	144.0	145.0					11																	62529308		2202	4299	6501	SO:0001583	missense	5436				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	g.chr11:62529308C>A	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.54C>A	11.37:g.62529308C>A	ENSP00000301788:p.Phe18Leu						p.F18L	NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN			2	159	+			18					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.54C>A	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928345	0.73327	.	.	ENSG00000168002	ENST00000301788	.	.	.	5.82	1.81	0.25067	RNA polymerase Rpb7, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	L	0.51422	1.61	0.58432	D	0.999998	P	0.40144	0.704	B	0.37267	0.245	T	0.11348	-1.0591	9	0.17832	T	0.49	-27.372	8.4833	0.33057	0.0:0.6124:0.0:0.3876	.	18	P62487	RPB7_HUMAN	L	18	.	ENSP00000301788:F18L	F	+	3	2	POLR2G	62285884	0.908000	0.30866	0.998000	0.56505	0.958000	0.62258	-0.069000	0.11542	0.081000	0.16988	-0.253000	0.11424	TTC		0.607	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	NM_002696		101	215	1	0	9.04842e-37	1	1.00206e-36	101	215				
WDFY3	23001	broad.mit.edu	37	4	85654725	85654725	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:85654725C>A	ENST00000295888.4	-	44	7438	c.7031G>T	c.(7030-7032)tGg>tTg	p.W2344L	WDFY3_ENST00000322366.6_Missense_Mutation_p.W2344L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2344	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATCTGACACCACTCTTCTGT	0.562																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7030-7032)tGg>tTg		WD repeat and FYVE domain containing 3							106.0	104.0	105.0					4																	85654725		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85654725C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7031G>T	4.37:g.85654725C>A	ENSP00000295888:p.Trp2344Leu					WDFY3_ENST00000295888.4_Missense_Mutation_p.W2344L	p.W2344L			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	44	7438	-		Hepatocellular(203;0.114)	2344					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7031G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983345	0.74474	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.81330	-1.17;-1.48	5.66	5.66	0.87406	Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.79690	0.4489	L	0.59436	1.845	0.80722	D	1	B	0.24768	0.111	B	0.24974	0.057	T	0.76380	-0.2980	10	0.52906	T	0.07	.	17.9266	0.88985	0.0:1.0:0.0:0.0	.	2344	Q8IZQ1	WDFY3_HUMAN	L	2344	ENSP00000318466:W2344L;ENSP00000295888:W2344L	ENSP00000295888:W2344L	W	-	2	0	WDFY3	85873749	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.645000	0.89757	0.650000	0.86243	TGG		0.562	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		43	97	1	0	4.64027e-19	1	5.03478e-19	43	97				
LVRN	206338	broad.mit.edu	37	5	115335561	115335561	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:115335561G>A	ENST00000357872.4	+	7	1601	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	AQPEP_ENST00000395528.2_Missense_Mutation_p.E10K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		493						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CAAAACAAGTGAAATACAGGA	0.353																																						ENST00000357872.4																			0											c.(1477-1479)Gaa>Aaa									88.0	88.0	88.0					5																	115335561		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115335561G>A																												ENST00000357872.4:c.1477G>A	5.37:g.115335561G>A	ENSP00000350541:p.Glu493Lys					AQPEP_ENST00000395528.2_Missense_Mutation_p.E10K	p.E493K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			7	1601	+			493					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.1477G>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962010	0.74016	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.05139	3.49;4.05	5.77	3.82	0.43975	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.414820	0.25575	N	0.029735	T	0.20577	0.0495	M	0.90759	3.145	0.36495	D	0.868641	P	0.44877	0.845	P	0.51657	0.676	T	0.12656	-1.0539	10	0.72032	D	0.01	.	8.7857	0.34818	0.0875:0.1496:0.7629:0.0	.	493	Q6Q4G3	AMPQ_HUMAN	K	10;493;482	ENSP00000378899:E10K;ENSP00000350541:E493K	ENSP00000350541:E493K	E	+	1	0	AC010282.1	115363460	0.785000	0.28726	0.859000	0.33776	0.643000	0.38383	0.877000	0.28106	1.512000	0.48834	0.655000	0.94253	GAA		0.353	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			23	47	0	0	0	1	0	23	47				
CCDC88A	55704	broad.mit.edu	37	2	55549805	55549805	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:55549805G>A	ENST00000436346.1	-	18	3862	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	CCDC88A_ENST00000336838.6_Silent_p.L1006L|CCDC88A_ENST00000263630.8_Silent_p.L1007L|CCDC88A_ENST00000413716.2_Silent_p.L1006L|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1007					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTCTCTGTTTGAGAGCTTCAT	0.343																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3019-3021)ctC>ctT		coiled-coil domain containing 88A							85.0	83.0	84.0					2																	55549805		2203	4300	6503	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549805G>A	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3021C>T	2.37:g.55549805G>A						AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.L1006L|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.L1007L|CCDC88A_ENST00000413716.2_Silent_p.L1006L	p.L1007L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3862	-			1007					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.3021C>T																																																																																					0.343	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		16	22	0	0	0	1	0	16	22				
HLX	3142	broad.mit.edu	37	1	221054599	221054599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:221054599C>T	ENST00000366903.6	+	2	2157	c.656C>T	c.(655-657)tCg>tTg	p.S219L	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	219					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGCAGCCCTCGGCCGGCCAG	0.562																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(655-657)tCg>tTg		H2.0-like homeobox							103.0	110.0	108.0					1																	221054599		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221054599C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.656C>T	1.37:g.221054599C>T	ENSP00000355870:p.Ser219Leu					HLX_ENST00000549319.1_5'UTR	p.S219L	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	2	2157	+			219					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.656C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473286	0.63737	.	.	ENSG00000136630	ENST00000366903	D	0.90900	-2.75	5.82	5.82	0.92795	.	0.225850	0.30930	N	0.008587	D	0.83797	0.5332	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	B	0.36608	0.229	D	0.84316	0.0513	10	0.35671	T	0.21	-31.3057	19.6956	0.96023	0.0:1.0:0.0:0.0	.	219	Q14774	HLX_HUMAN	L	219	ENSP00000355870:S219L	ENSP00000355870:S219L	S	+	2	0	HLX	219121222	0.977000	0.34250	0.695000	0.30226	0.062000	0.15995	7.440000	0.80464	2.756000	0.94617	0.561000	0.74099	TCG		0.562	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		57	113	0	0	0	1	0	57	113				
ALOX12	239	broad.mit.edu	37	17	6913722	6913722	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6913722G>A	ENST00000251535.6	+	14	2025	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron|RNASEK_ENST00000552321.1_5'Flank|RNASEK_ENST00000548577.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000575727.1_Intron|RNASEK_ENST00000402093.1_5'Flank	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	658	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGCTGCATAGAGAACAGTGT	0.433																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(1972-1974)Gag>Aag		arachidonate 12-lipoxygenase							64.0	64.0	64.0					17																	6913722		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6913722G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1972G>A	17.37:g.6913722G>A	ENSP00000251535:p.Glu658Lys					AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron	p.E658K	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			14	2025	+			658			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.1972G>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492045	0.84962	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	T	0.07444	3.19	4.87	4.87	0.63330	Lipoxygenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	M	0.90198	3.095	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	T	0.38779	-0.9645	10	0.72032	D	0.01	-3.1738	15.5551	0.76187	0.0:0.0:1.0:0.0	.	658	P18054	LOX12_HUMAN	K	658;128	ENSP00000251535:E658K	ENSP00000251535:E658K	E	+	1	0	ALOX12	6854446	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.949000	0.87791	2.545000	0.85829	0.467000	0.42956	GAG		0.433	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			23	54	0	0	0	1	0	23	54				
PLD3	23646	broad.mit.edu	37	19	40872562	40872562	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40872562G>A	ENST00000409587.1	+	4	470	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PLD3_ENST00000356508.5_Missense_Mutation_p.E25K|PLD3_ENST00000409281.1_Missense_Mutation_p.E25K|PLD3_ENST00000409735.4_Missense_Mutation_p.E25K|PLD3_ENST00000409419.1_Missense_Mutation_p.E25K			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	25					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCCATGAATGAGATTGAGGC	0.652																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(73-75)Gag>Aag		phospholipase D family, member 3							60.0	65.0	64.0					19																	40872562		2203	4300	6503	SO:0001583	missense	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40872562G>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.73G>A	19.37:g.40872562G>A	ENSP00000387050:p.Glu25Lys					PLD3_ENST00000409281.1_Missense_Mutation_p.E25K|PLD3_ENST00000409419.1_Missense_Mutation_p.E25K|PLD3_ENST00000409735.4_Missense_Mutation_p.E25K|PLD3_ENST00000356508.5_Missense_Mutation_p.E25K	p.E25K			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		4	470	+			25					Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.73G>A	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051412	0.75960	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281;ENST00000359274	T;T;T;T;T;T;T	0.49139	0.79;0.85;0.85;0.85;0.85;0.85;0.8	4.39	4.39	0.52855	.	0.500084	0.21559	N	0.072613	T	0.41558	0.1164	N	0.08118	0	0.39321	D	0.965248	D;P	0.76494	0.999;0.61	D;B	0.78314	0.991;0.101	T	0.18871	-1.0323	10	0.05351	T	0.99	-0.8814	12.7892	0.57523	0.0:0.0:1.0:0.0	.	25;25	B4DEL6;Q8IV08	.;PLD3_HUMAN	K	25	ENSP00000375886:E25K;ENSP00000386293:E25K;ENSP00000387050:E25K;ENSP00000348901:E25K;ENSP00000386938:E25K;ENSP00000387022:E25K;ENSP00000352220:E25K	ENSP00000348901:E25K	E	+	1	0	PLD3	45564402	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.867000	0.48428	2.730000	0.93505	0.655000	0.94253	GAG		0.652	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		6	128	0	0	0	1	0	6	128				
RYR3	6263	broad.mit.edu	37	15	33991959	33991959	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:33991959C>G	ENST00000389232.4	+	41	6374	c.6304C>G	c.(6304-6306)Cga>Gga	p.R2102G	RYR3_ENST00000415757.3_Missense_Mutation_p.R2102G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2102	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTATTTCTGTCGAATTAGCCG	0.433																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6304-6306)Cga>Gga		ryanodine receptor 3							116.0	106.0	109.0					15																	33991959		1895	4122	6017	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33991959C>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6304C>G	15.37:g.33991959C>G	ENSP00000373884:p.Arg2102Gly					RYR3_ENST00000415757.3_Missense_Mutation_p.R2102G	p.R2102G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	41	6374	+		all_lung(180;7.18e-09)	2102			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6304C>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853589	0.51270	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96200	-3.94;-3.94	4.9	3.97	0.46021	Intracellular calcium-release channel (1);	0.070639	0.64402	D	0.000017	D	0.96605	0.8892	M	0.79258	2.445	0.58432	D	0.999995	P;P	0.41131	0.509;0.739	B;P	0.53266	0.168;0.722	D	0.96920	0.9673	10	0.87932	D	0	.	12.6912	0.56976	0.3:0.7:0.0:0.0	.	2102;2102	Q15413-2;Q15413	.;RYR3_HUMAN	G	2102	ENSP00000373884:R2102G;ENSP00000399610:R2102G	ENSP00000354735:R2102G	R	+	1	2	RYR3	31779251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.508000	0.60441	1.386000	0.46466	0.643000	0.83706	CGA		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	15	0	0	0	1	0	8	15				
GPATCH8	23131	broad.mit.edu	37	17	42478745	42478745	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:42478745C>T	ENST00000591680.1	-	8	730	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.E156K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	234							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTAGCTGATTCATCTTTATCA	0.443																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(466-468)Gaa>Aaa		G patch domain containing 8							131.0	134.0	133.0					17																	42478745		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478745C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.700G>A	17.37:g.42478745C>T	ENSP00000467556:p.Glu234Lys					GPATCH8_ENST00000591680.1_Missense_Mutation_p.E234K	p.E156K			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	748	-		Prostate(33;0.0181)	234					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.466G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519576	0.44866	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.33216	1.42	5.65	5.65	0.86999	.	0.206931	0.41097	D	0.000945	T	0.26738	0.0654	L	0.46157	1.445	0.36133	D	0.846291	P	0.38922	0.651	B	0.32677	0.15	T	0.20806	-1.0264	10	0.10377	T	0.69	-20.07	19.724	0.96154	0.0:1.0:0.0:0.0	.	234	Q9UKJ3	GPTC8_HUMAN	K	234;156	ENSP00000395016:E156K	ENSP00000335486:E234K	E	-	1	0	GPATCH8	39834271	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.016000	0.70798	2.654000	0.90174	0.557000	0.71058	GAA		0.443	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		38	78	0	0	0	1	0	38	78				
CNTLN	54875	broad.mit.edu	37	9	17394894	17394894	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:17394894G>A	ENST00000380647.3	+	15	2526	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	CNTLN_ENST00000425824.1_Silent_p.V814V|CNTLN_ENST00000262360.5_Silent_p.V814V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	814					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CCATGAAAGTGAGATCTGGAC	0.418																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2440-2442)gtG>gtA		centlein, centrosomal protein							113.0	112.0	112.0					9																	17394894		1968	4165	6133	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17394894G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2442G>A	9.37:g.17394894G>A						CNTLN_ENST00000425824.1_Silent_p.V814V|CNTLN_ENST00000262360.5_Silent_p.V814V	p.V814V			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	15	2526	+			814					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.2442G>A	CCDS43789.1																																																																																				0.418	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		31	22	0	0	0	1	0	31	22				
RFWD2	64326	broad.mit.edu	37	1	176132984	176132984	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:176132984C>T	ENST00000367669.3	-	4	1123	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RFWD2_ENST00000308769.8_Silent_p.K203K	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTGAACCTCTTTTCCTCAA	0.269																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(607-609)aaG>aaA		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							53.0	52.0	52.0					1																	176132984		2203	4295	6498	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176132984C>T	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.609G>A	1.37:g.176132984C>T						RFWD2_ENST00000308769.8_Silent_p.K203K	p.K203K	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			4	1123	-			203					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.609G>A	CCDS30944.1																																																																																				0.269	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		5	23	0	0	0	1	0	5	23				
PTPN14	5784	broad.mit.edu	37	1	214625281	214625281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:214625281G>A	ENST00000366956.5	-	3	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q71*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGTGCTTGCTGGCTCTTGCTG	0.463																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(211-213)Cag>Tag		protein tyrosine phosphatase, non-receptor type 14							99.0	98.0	98.0					1																	214625281		2203	4300	6503	SO:0001587	stop_gained	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214625281G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.211C>T	1.37:g.214625281G>A	ENSP00000355923:p.Gln71*					PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q71*	p.Q71*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	3	405	-			71			FERM.		Q5VSI0	Nonsense_Mutation	SNP	ENST00000366956.5	37	c.211C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	39	7.378839	0.98248	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	.	.	.	5.55	5.55	0.83447	.	0.124291	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.3576	0.66748	0.0:0.0:0.852:0.148	.	.	.	.	X	71	.	ENSP00000355923:Q71X	Q	-	1	0	PTPN14	212691904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.125000	0.71627	2.623000	0.88846	0.555000	0.69702	CAG		0.463	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		20	32	0	0	0	1	0	20	32				
FOXM1	2305	broad.mit.edu	37	12	2983384	2983384	+	Silent	SNP	G	G	A	rs11548398		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:2983384G>A	ENST00000359843.3	-	2	329	c.261C>T	c.(259-261)atC>atT	p.I87I	FOXM1_ENST00000342628.2_Silent_p.I87I|RHNO1_ENST00000489288.2_5'Flank|RHNO1_ENST00000461997.2_5'Flank|FOXM1_ENST00000361953.3_Silent_p.I87I|FOXM1_ENST00000537018.1_5'Flank	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	87					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTGCTGTGATGATGCTGTGAA	0.517																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(259-261)atC>atT		forkhead box M1							170.0	142.0	152.0					12																	2983384		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2983384G>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.261C>T	12.37:g.2983384G>A						FOXM1_ENST00000361953.3_Silent_p.I87I|FOXM1_ENST00000359843.3_Silent_p.I87I	p.I87I	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		2	374	-			87					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.261C>T	CCDS8515.1																																																																																				0.517	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		40	80	0	0	0	1	0	40	80				
ZNF23	7571	broad.mit.edu	37	16	71482838	71482838	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:71482838A>G	ENST00000393539.2	-	6	1903	c.1090T>C	c.(1090-1092)Tat>Cat	p.Y364H	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.Y364H|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.Y306H|ZNF23_ENST00000564528.1_Missense_Mutation_p.Y306H|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.Y364H	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	364					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)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTACACTGATAGGGCTTTTCT	0.428																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(1090-1092)Tat>Cat		zinc finger protein 23							70.0	65.0	67.0					16																	71482838		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482838A>G	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1090T>C	16.37:g.71482838A>G	ENSP00000377171:p.Tyr364His					ZNF23_ENST00000357254.4_Missense_Mutation_p.Y364H|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.Y306H|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.Y364H|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.Y306H	p.Y364H	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1903	-		Ovarian(137;0.00768)	364					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1090T>C	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437544	0.43224	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.14	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.171380	0.06387	N	0.716275	T	0.34571	0.0902	L	0.57536	1.79	0.09310	N	1	P;B	0.50528	0.936;0.005	P;B	0.53689	0.732;0.009	T	0.14699	-1.0463	10	0.72032	D	0.01	-4.942	7.4443	0.27203	0.8911:0.0:0.1089:0.0	.	364;364	B3KR55;P17027	.;ZNF23_HUMAN	H	364;364;364;306;306;164	ENSP00000377171:Y364H;ENSP00000349796:Y364H;ENSP00000395712:Y364H;ENSP00000387673:Y306H	ENSP00000349796:Y364H	Y	-	1	0	ZNF23	70040339	0.001000	0.12720	0.725000	0.30721	0.996000	0.88848	1.899000	0.39818	0.942000	0.37525	0.454000	0.30748	TAT		0.428	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		23	26	0	0	0	1	0	23	26				
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:31324832G>T	ENST00000269197.5	+	12	5020	c.5020G>T	c.(5020-5022)Gaa>Taa	p.E1674*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1674					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5020-5022)Gaa>Taa		additional sex combs like 3 (Drosophila)							77.0	81.0	80.0					18																	31324832		2028	4196	6224	SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324832G>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5020G>T	18.37:g.31324832G>T	ENSP00000269197:p.Glu1674*						p.E1674*	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5020	+			1674					Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	ENST00000269197.5	37	c.5020G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	39	7.552338	0.98355	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	.	.	.	X	1674	.	ENSP00000269197:E1674X	E	+	1	0	ASXL3	29578830	1.000000	0.71417	0.243000	0.24186	0.058000	0.15608	4.933000	0.63484	2.775000	0.95449	0.655000	0.94253	GAA		0.478	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			34	58	1	0	2.08457e-15	1	2.21692e-15	34	58				
KCND3	3752	broad.mit.edu	37	1	112318791	112318791	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:112318791C>T	ENST00000315987.2	-	8	2355	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	KCND3_ENST00000302127.4_Missense_Mutation_p.E607K|KCND3_ENST00000369697.1_Missense_Mutation_p.E607K	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	626					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTTTCCCCCTCTGGGGTTAGC	0.557																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1819-1821)Gag>Aag		potassium voltage-gated channel, Shal-related subfamily, member 3							100.0	93.0	95.0					1																	112318791		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318791C>T	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1876G>A	1.37:g.112318791C>T	ENSP00000319591:p.Glu626Lys					KCND3_ENST00000315987.2_Missense_Mutation_p.E626K|KCND3_ENST00000302127.4_Missense_Mutation_p.E607K	p.E607K			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1888	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	626					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.1819G>A	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596544	0.86953	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97138	-4.24;-4.26;-4.24	5.76	5.76	0.90799	.	0.140578	0.64402	D	0.000006	D	0.94611	0.8263	L	0.46157	1.445	0.80722	D	1	P;P	0.48911	0.917;0.917	B;B	0.41917	0.285;0.37	D	0.94830	0.7995	10	0.56958	D	0.05	.	19.5688	0.95404	0.0:1.0:0.0:0.0	.	607;626	Q14D71;Q9UK17	.;KCND3_HUMAN	K	607;626;607	ENSP00000358711:E607K;ENSP00000319591:E626K;ENSP00000306923:E607K	ENSP00000306923:E607K	E	-	1	0	KCND3	112120314	1.000000	0.71417	0.935000	0.37517	0.992000	0.81027	5.722000	0.68485	2.732000	0.93576	0.655000	0.94253	GAG		0.557	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		49	66	0	0	0	1	0	49	66				
ZBTB12	221527	broad.mit.edu	37	6	31868084	31868084	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:31868084G>C	ENST00000375527.2	-	2	1174	c.999C>G	c.(997-999)atC>atG	p.I333M	C2_ENST00000469372.1_Intron|EHMT2_ENST00000375537.4_5'Flank|EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000452323.2_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	333					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(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TGGTGCACTTGATGTTCTTTA	0.667																																						ENST00000375527.2																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(997-999)atC>atG		zinc finger and BTB domain containing 12							33.0	34.0	34.0					6																	31868084		2203	4299	6502	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868084G>C	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.999C>G	6.37:g.31868084G>C	ENSP00000364677:p.Ile333Met					C2_ENST00000469372.1_Intron	p.I333M	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN			2	1174	-			333					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.999C>G	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	G	6.334	0.429773	0.11987	.	.	ENSG00000204366	ENST00000375527	T	0.01647	4.71	3.26	0.151	0.14888	Zinc finger, C2H2-like (1);	0.144296	0.45867	U	0.000323	T	0.00496	0.0016	N	0.19112	0.55	0.27147	N	0.96151	B	0.22800	0.075	B	0.17098	0.017	T	0.44892	-0.9298	10	0.34782	T	0.22	.	10.7904	0.46429	0.0:0.0:0.5212:0.4788	.	333	Q9Y330	ZBT12_HUMAN	M	333	ENSP00000364677:I333M	ENSP00000364677:I333M	I	-	3	3	ZBTB12	31976063	0.966000	0.33281	0.942000	0.38095	0.883000	0.51084	-0.229000	0.09098	-0.236000	0.09753	0.313000	0.20887	ATC		0.667	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		15	50	0	0	0	1	0	15	50				
CYP11A1	1583	broad.mit.edu	37	15	74627346	74627346	+	IGR	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:74627346G>A	ENST00000268053.6	-	0	1934				CCDC33_ENST00000558821.1_Missense_Mutation_p.E279K|CCDC33_ENST00000321288.5_Missense_Mutation_p.E923K|CCDC33_ENST00000268082.4_Missense_Mutation_p.E313K|CCDC33_ENST00000398814.3_Missense_Mutation_p.E686K	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTGGGGACGAGAGAAGCAGGA	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2767-2769)Gag>Aag		coiled-coil domain containing 33							94.0	103.0	100.0					15																	74627346		2032	4191	6223	SO:0001628	intergenic_variant	80125						protein binding	g.chr15:74627346G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627346G>A						CCDC33_ENST00000398814.3_Missense_Mutation_p.E686K|CCDC33_ENST00000268082.4_Missense_Mutation_p.E313K|CCDC33_ENST00000558821.1_Missense_Mutation_p.E279K	p.E923K			Q8N5R6	CCD33_HUMAN			21	2767	+			889					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.2767G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997041	0.93167	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.61040	1.29;0.33;0.14;0.25	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.82517	2.595	0.53005	D	0.999963	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.85130	0.997;0.997;0.985;0.994	T	0.82400	-0.0476	10	0.87932	D	0	.	16.8924	0.86091	0.0:0.0:1.0:0.0	.	279;313;923;686	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	K	923;686;279;313	ENSP00000325012:E923K;ENSP00000381795:E686K;ENSP00000325661:E279K;ENSP00000268082:E313K	ENSP00000268082:E313K	E	+	1	0	CCDC33	72414399	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	5.972000	0.70448	2.274000	0.75844	0.478000	0.44815	GAG		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			37	79	0	0	0	1	0	37	79				
SULF1	23213	broad.mit.edu	37	8	70488379	70488379	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:70488379C>T	ENST00000260128.4	+	6	1064	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SULF1_ENST00000402687.4_Missense_Mutation_p.S116L|SULF1_ENST00000419716.3_Missense_Mutation_p.S116L|SULF1_ENST00000458141.2_Missense_Mutation_p.S116L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	116					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCTTCCCCCTCGTGGCAGGCC	0.517																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(346-348)tCg>tTg		sulfatase 1							147.0	126.0	133.0					8																	70488379		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70488379C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.347C>T	8.37:g.70488379C>T	ENSP00000260128:p.Ser116Leu					SULF1_ENST00000419716.3_Missense_Mutation_p.S116L|SULF1_ENST00000402687.4_Missense_Mutation_p.S116L|SULF1_ENST00000458141.2_Missense_Mutation_p.S116L	p.S116L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		6	1064	+	Breast(64;0.0654)		116					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.347C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533801	0.64972	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716;ENST00000525999	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	5.23	5.23	0.72850	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	L	0.58510	1.815	0.80722	D	1	B	0.17268	0.021	B	0.20384	0.029	D	0.91596	0.5291	10	0.52906	T	0.07	.	18.7899	0.91969	0.0:1.0:0.0:0.0	.	116	Q8IWU6	SULF1_HUMAN	L	116	ENSP00000403040:S116L;ENSP00000260128:S116L;ENSP00000385704:S116L;ENSP00000390315:S116L;ENSP00000431753:S116L	ENSP00000260128:S116L	S	+	2	0	SULF1	70650933	1.000000	0.71417	0.785000	0.31869	0.609000	0.37215	7.788000	0.85771	2.446000	0.82766	0.650000	0.86243	TCG		0.517	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		25	66	0	0	0	1	0	25	66				
NOL9	79707	broad.mit.edu	37	1	6605202	6605202	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:6605202C>G	ENST00000377705.5	-	4	815	c.783G>C	c.(781-783)ttG>ttC	p.L261F		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	261					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CAACAGACCTCAAGGCTAAAT	0.373																																						ENST00000377705.5																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(781-783)ttG>ttC		nucleolar protein 9							142.0	146.0	145.0					1																	6605202		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6605202C>G	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.783G>C	1.37:g.6605202C>G	ENSP00000366934:p.Leu261Phe						p.L261F	NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	4	815	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	261					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.783G>C	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955124	0.53293	.	.	ENSG00000162408	ENST00000377705	T	0.22134	1.97	5.06	3.16	0.36331	.	0.362916	0.17944	N	0.156733	T	0.25606	0.0623	L	0.29908	0.895	0.09310	N	0.999992	D	0.76494	0.999	D	0.64595	0.927	T	0.08229	-1.0732	10	0.25106	T	0.35	-7.7983	6.2228	0.20691	0.1838:0.7213:0.0:0.0949	.	261	Q5SY16	NOL9_HUMAN	F	261	ENSP00000366934:L261F	ENSP00000366934:L261F	L	-	3	2	NOL9	6527789	0.279000	0.24239	0.033000	0.17914	0.269000	0.26545	0.624000	0.24462	0.523000	0.28482	0.650000	0.86243	TTG		0.373	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		27	89	0	0	0	1	0	27	89				
ABCA2	20	broad.mit.edu	37	9	139905086	139905086	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:139905086C>T	ENST00000371605.3	-	39	6304	c.6157G>A	c.(6157-6159)Gag>Aag	p.E2053K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E2054K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E2054K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2053	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCAGGTTCTCAATCTTGACC	0.652																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6160-6162)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 2							110.0	115.0	113.0					9																	139905086		2082	4214	6296	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139905086C>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6157G>A	9.37:g.139905086C>T	ENSP00000360666:p.Glu2053Lys					ABCA2_ENST00000371605.3_Missense_Mutation_p.E2053K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E2054K	p.E2054K			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	40	6307	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2053			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.6160G>A		.	.	.	.	.	.	.	.	.	.	C	5.086	0.201480	0.09652	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.93307	-3.2;-3.2;-3.2	3.72	2.82	0.32997	ABC transporter-like (1);	0.503195	0.20468	U	0.091755	T	0.79793	0.4507	N	0.02697	-0.525	0.40585	D	0.981438	B;B	0.17852	0.006;0.024	B;B	0.12156	0.007;0.007	T	0.71724	-0.4506	10	0.05620	T	0.96	.	11.2579	0.49065	0.0:0.9087:0.0:0.0913	.	2053;2084	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	2054;2053;2084;2054	ENSP00000265662:E2054K;ENSP00000360666:E2053K;ENSP00000344155:E2054K	ENSP00000265662:E2054K	E	-	1	0	ABCA2	139024907	0.908000	0.30866	0.687000	0.30102	0.700000	0.40528	1.839000	0.39220	0.778000	0.33520	0.297000	0.19635	GAG		0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		64	135	0	0	0	1	0	64	135				
PARS2	25973	broad.mit.edu	37	1	55224675	55224675	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:55224675C>G	ENST00000371279.3	-	2	242	c.160G>C	c.(160-162)Gac>Cac	p.D54H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	54					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCACCCGGTCTTCCCGAAGG	0.607																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(160-162)Gac>Cac		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						40.0	40.0	40.0					1																	55224675		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224675C>G	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.160G>C	1.37:g.55224675C>G	ENSP00000360327:p.Asp54His						p.D54H	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	242	-			54					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.160G>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003768	0.54254	.	.	ENSG00000162396	ENST00000371279	T	0.47177	0.85	5.37	5.37	0.77165	Aminoacyl-tRNA synthetase, class II (1);	0.062758	0.64402	D	0.000004	T	0.60818	0.2298	M	0.65975	2.015	0.46701	D	0.999164	D	0.76494	0.999	P	0.58577	0.841	T	0.55547	-0.8124	10	0.14656	T	0.56	-28.6774	17.316	0.87224	0.0:1.0:0.0:0.0	.	54	Q7L3T8	SYPM_HUMAN	H	54	ENSP00000360327:D54H	ENSP00000360327:D54H	D	-	1	0	PARS2	54997263	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.275000	0.65575	2.518000	0.84900	0.655000	0.94253	GAC		0.607	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		10	23	0	0	0	1	0	10	23				
MCF2L	23263	broad.mit.edu	37	13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:113742891G>A	ENST00000375608.3	+	26	2931	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000397030.1_Missense_Mutation_p.R961Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2881-2883)cGg>cAg		MCF.2 cell line derived transforming sequence-like																																				SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742891G>A	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2873G>A	13.37:g.113742891G>A	ENSP00000364758:p.Arg958Gln					MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q	p.R961Q			O15068	MCF2L_HUMAN			25	2919	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	958					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2882G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.589|5.589	0.293452|0.293452	0.10567|0.10567	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.16324	.|2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35	4.14|4.14	2.4|2.4	0.29515|0.29515	.|Pleckstrin homology-type (1);	.|0.230483	.|0.31784	.|N	.|0.007071	T|T	0.11922|0.11922	0.0290|0.0290	M|M	0.70595|0.70595	2.14|2.14	0.19300|0.19300	N|N	0.999973|0.999973	.|P;P;P;P;P	.|0.45348	.|0.676;0.495;0.856;0.853;0.547	.|B;B;B;B;B	.|0.30716	.|0.046;0.034;0.078;0.119;0.021	T|T	0.32107|0.32107	-0.9919|-0.9919	5|10	.|0.09338	.|T	.|0.73	.|.	7.5847|7.5847	0.27985|0.27985	0.2655:0.0:0.7345:0.0|0.2655:0.0:0.7345:0.0	.|.	.|926;928;985;926;958	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	R|Q	158;99|958;958;985;961;928;932;932;934;926;926;769	.|ENSP00000364758:R958Q;ENSP00000401422:R958Q;ENSP00000364754:R985Q;ENSP00000380225:R961Q;ENSP00000440374:R928Q;ENSP00000397285:R932Q;ENSP00000364751:R932Q;ENSP00000407722:R934Q;ENSP00000405639:R926Q;ENSP00000364747:R926Q	.|ENSP00000364747:R926Q	G|R	+|+	1|2	0|0	MCF2L|MCF2L	112790892|112790892	0.980000|0.980000	0.34600|0.34600	0.032000|0.032000	0.17829|0.17829	0.168000|0.168000	0.22595|0.22595	4.143000|4.143000	0.58051|0.58051	0.247000|0.247000	0.21414|0.21414	-0.251000|-0.251000	0.11542|0.11542	GGG|CGG		0.657	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			9	33	0	0	0	1	0	9	33				
CYP2D6	1565	broad.mit.edu	37	22	42522959	42522959	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42522959C>G	ENST00000360608.5	-	8	1323	c.1209G>C	c.(1207-1209)ctG>ctC	p.L403L	NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.L403L|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000359033.4_Silent_p.L352L|NDUFA6-AS1_ENST00000595777.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	403					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.L352L(1)|p.L403L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCATCCTTCAGCACCGATG	0.602																																						ENST00000360608.5																			2	Substitution - coding silent(2)	p.L352L(1)|p.L403L(1)	lung(2)	NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1207-1209)ctG>ctC		cytochrome P450, family 2, subfamily D, polypeptide 6							37.0	30.0	33.0					22																	42522959		2193	4290	6483	SO:0001819	synonymous_variant	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42522959C>G	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1209G>C	22.37:g.42522959C>G						NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Silent_p.L352L|CYP2D6_ENST00000389970.3_Silent_p.L403L|NDUFA6-AS1_ENST00000416037.1_RNA	p.L403L	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			8	1323	-			403					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	c.1209G>C	CCDS46721.1																																																																																				0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			3	20	0	0	0	1	0	3	20				
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs68021090		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		AAAGCAGCGGCGGCGTTTGCT	0.597																																						ENST00000494540.1																			0																																																			158160							g.chr10:38645343C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645343C>T								NR_003086.1						0	36	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.597	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	17	0	0	0	1	0	6	17				
PPP1R21	129285	broad.mit.edu	37	2	48718202	48718202	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:48718202C>G	ENST00000294952.8	+	15	1649	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	PPP1R21_ENST00000281394.4_Missense_Mutation_p.L498V|PPP1R21_ENST00000449090.2_Missense_Mutation_p.L498V	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	498						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CATTGCTTCACTGAGCTATGG	0.363																																						ENST00000294952.8																			0				endometrium(2)|kidney(4)|lung(9)	15						c.(1492-1494)Ctg>Gtg		protein phosphatase 1, regulatory subunit 21							138.0	130.0	133.0					2																	48718202		2203	4300	6503	SO:0001583	missense	129285							g.chr2:48718202C>G	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1492C>G	2.37:g.48718202C>G	ENSP00000294952:p.Leu498Val					PPP1R21_ENST00000449090.2_Missense_Mutation_p.L498V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.L498V	p.L498V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN			15	1649	+			498					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	ENST00000294952.8	37	c.1492C>G	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207676	0.58343	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.51	3.73	0.42828	.	0.174262	0.40222	N	0.001147	T	0.68366	0.2993	L	0.56769	1.78	0.42677	D	0.993538	D;D;P;D	0.76494	0.996;0.999;0.629;0.969	D;D;B;P	0.87578	0.947;0.998;0.225;0.632	T	0.64676	-0.6351	9	0.28530	T	0.3	-9.8054	10.5312	0.44977	0.0:0.7745:0.0:0.2255	.	498;498;498;498	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3	.;PPR21_HUMAN;.;.	V	498	.	ENSP00000281394:L498V	L	+	1	2	KLRAQ1	48571706	0.001000	0.12720	0.901000	0.35422	0.994000	0.84299	-0.017000	0.12590	0.810000	0.34279	0.650000	0.86243	CTG		0.363	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		19	68	0	0	0	1	0	19	68				
ABCC12	94160	broad.mit.edu	37	16	48180286	48180286	+	Missense_Mutation	SNP	C	C	T	rs372957171		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:48180286C>T	ENST00000311303.3	-	1	395	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	ABCC12_ENST00000448542.1_Missense_Mutation_p.R17Q|ABCC12_ENST00000416054.1_Missense_Mutation_p.R17Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	17						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATCTCCGCCGGCCTCGCTG	0.577																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(49-51)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 12		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	130.0	114.0	120.0		50	-4.8	0.0	16		120	0,8600		0,0,4300	no	missense	ABCC12	NM_033226.2	43	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	17/1360	48180286	1,13001	2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48180286C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.50G>A	16.37:g.48180286C>T	ENSP00000311030:p.Arg17Gln					ABCC12_ENST00000416054.1_Missense_Mutation_p.R17Q|ABCC12_ENST00000448542.1_Missense_Mutation_p.R17Q	p.R17Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			1	395	-		all_cancers(37;0.0474)|all_lung(18;0.047)	17					Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.50G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557799	0.27827	2.27E-4	0.0	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054;ENST00000527640	D;D;D;D	0.92647	-2.82;-3.01;-3.08;-2.46	5.55	-4.75	0.03239	.	1.887800	0.02024	N	0.048026	D	0.83686	0.5308	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.017;0.003	B;B	0.06405	0.002;0.002	T	0.72937	-0.4140	10	0.13108	T	0.6	.	7.0137	0.24877	0.0:0.4116:0.2417:0.3468	.	17;17	Q96J65-2;Q96J65	.;MRP9_HUMAN	Q	17	ENSP00000311030:R17Q;ENSP00000401855:R17Q;ENSP00000413046:R17Q;ENSP00000436647:R17Q	ENSP00000311030:R17Q	R	-	2	0	ABCC12	46737787	0.000000	0.05858	0.009000	0.14445	0.764000	0.43329	-0.499000	0.06413	-0.841000	0.04200	-0.320000	0.08662	CGG		0.577	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		23	45	0	0	0	1	0	23	45				
AIM2	9447	broad.mit.edu	37	1	159035750	159035750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:159035750G>A	ENST00000368130.4	-	4	1054	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	256	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GGCTGAGTTTGAAGCGTGTTG	0.393																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(766-768)Caa>Taa		absent in melanoma 2							97.0	92.0	94.0					1																	159035750		2203	4300	6503	SO:0001587	stop_gained	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035750G>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.766C>T	1.37:g.159035750G>A	ENSP00000357112:p.Gln256*					AIM2_ENST00000481829.1_5'UTR	p.Q256*	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			4	1054	-	all_hematologic(112;0.0429)		256			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Nonsense_Mutation	SNP	ENST00000368130.4	37	c.766C>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378855	0.24944	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	.	.	.	3.44	-1.46	0.08800	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.496	4.68	0.12731	0.1209:0.0:0.3032:0.5758	.	.	.	.	X	256;119	.	ENSP00000357111:Q119X	Q	-	1	0	AIM2	157302374	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.043000	0.12043	-0.066000	0.12998	-0.538000	0.04264	CAA		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		23	48	0	0	0	1	0	23	48				
DUSP15	128853	broad.mit.edu	37	20	30436231	30436231	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:30436231G>A	ENST00000278979.3	-	10	940	c.864C>T	c.(862-864)gcC>gcT	p.A288A	FOXS1_ENST00000375978.3_5'Flank			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	288					positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGAGGAAGCGGCTCGCTTAG	0.622																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(862-864)gcC>gcT		dual specificity phosphatase 15							46.0	45.0	45.0					20																	30436231		876	1991	2867	SO:0001819	synonymous_variant	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30436231G>A		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.864C>T	20.37:g.30436231G>A							p.A288A			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		10	940	-			288					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Silent	SNP	ENST00000278979.3	37	c.864C>T		.	.	.	.	.	.	.	.	.	.	G	3.866	-0.028839	0.07589	.	.	ENSG00000149599	ENST00000447647	.	.	.	3.71	-7.43	0.01383	.	.	.	.	.	T	0.33731	0.0873	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	4	.	.	.	.	13.6151	0.62103	0.8672:0.0:0.1328:0.0	.	.	.	.	L	86	.	.	P	-	2	0	DUSP15	29899892	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.659000	0.05323	-1.864000	0.01148	-1.244000	0.01528	CCG		0.622	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		11	31	0	0	0	1	0	11	31				
RNGTT	8732	broad.mit.edu	37	6	89388087	89388087	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:89388087G>A	ENST00000369485.4	-	14	1677	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	RNGTT_ENST00000538899.1_Silent_p.P414P|RNGTT_ENST00000369475.3_Silent_p.P497P|RNGTT_ENST00000265607.6_Silent_p.P474P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	497	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTGTGCAAAGGGTCTTTCAT	0.318																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1489-1491)ccC>ccT		RNA guanylyltransferase and 5'-phosphatase							76.0	73.0	74.0					6																	89388087		2203	4300	6503	SO:0001819	synonymous_variant	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89388087G>A	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1491C>T	6.37:g.89388087G>A						RNGTT_ENST00000369475.3_Silent_p.P497P|RNGTT_ENST00000538899.1_Silent_p.P414P|RNGTT_ENST00000265607.6_Silent_p.P474P	p.P497P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	14	1677	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	497			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	ENST00000369485.4	37	c.1491C>T	CCDS5017.1																																																																																				0.318	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			14	26	0	0	0	1	0	14	26				
NBPF1	55672	broad.mit.edu	37	1	16907941	16907941	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:16907941C>G	ENST00000430580.2	-	15	2240	c.1353G>C	c.(1351-1353)gaG>gaC	p.E451D	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCAGTACTTTCTCAGCCTCCT	0.438																																						ENST00000430580.2																			0											c.(1351-1353)gaG>gaC		neuroblastoma breakpoint family, member 1							282.0	311.0	300.0					1																	16907941		1494	2696	4190	SO:0001583	missense	55672					cytoplasm		g.chr1:16907941C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1353G>C	1.37:g.16907941C>G	ENSP00000474456:p.Glu451Asp						p.E451D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	15	2240	-			451			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1353G>C																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		49	672	0	0	0	1	0	49	672				
P2RY11	5032	broad.mit.edu	37	19	10227598	10227598	+	IGR	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:10227598C>T	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Missense_Mutation_p.R158H|EIF3G_ENST00000587168.1_5'Flank	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTTGCAGATGCGGCAGGACAC	0.647																																						ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(472-474)cGc>cAc		eukaryotic translation initiation factor 3, subunit G							83.0	83.0	83.0					19																	10227598		2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10227598C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10227598C>T							p.R158H	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		7	515	-			158					B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.473G>A	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464474	0.84425	.	.	ENSG00000130811	ENST00000253108	T	0.31247	1.5	4.54	3.48	0.39840	Eukaryotic translation initiation factor 3 subunit G, N terminal (1);	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72704	-0.4213	10	0.87932	D	0	-17.3211	13.3187	0.60421	0.0:0.8392:0.1607:0.0	.	158	O75821	EIF3G_HUMAN	H	158	ENSP00000253108:R158H	ENSP00000253108:R158H	R	-	2	0	EIF3G	10088598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.694000	0.68272	0.882000	0.36016	0.555000	0.69702	CGC		0.647	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		51	76	0	0	0	1	0	51	76				
ASB4	51666	broad.mit.edu	37	7	95157168	95157168	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:95157168G>A	ENST00000325885.5	+	3	602	c.531G>A	c.(529-531)acG>acA	p.T177T	ASB4_ENST00000428113.1_Silent_p.T177T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	177					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.T177T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGAGGAGACGCCCTTGCACA	0.498											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325885.5																			1	Substitution - coding silent(1)	p.T177T(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(529-531)acG>acA		ankyrin repeat and SOCS box containing 4							88.0	75.0	80.0					7																	95157168		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157168G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.531G>A	7.37:g.95157168G>A			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_ENST00000428113.1_Silent_p.T177T	p.T177T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	602	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		177					A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.531G>A	CCDS5641.1																																																																																				0.498	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		15	23	0	0	0	1	0	15	23				
NOTCH3	4854	broad.mit.edu	37	19	15284885	15284885	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:15284885A>G	ENST00000263388.2	-	25	4805	c.4730T>C	c.(4729-4731)gTg>gCg	p.V1577A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1577					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCACCCGATCACCTCGGGGGC	0.627																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4729-4731)gTg>gCg		notch 3							18.0	25.0	22.0					19																	15284885		2172	4262	6434	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15284885A>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4730T>C	19.37:g.15284885A>G	ENSP00000263388:p.Val1577Ala						p.V1577A	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		25	4805	-			1577					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.4730T>C	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123187	0.56613	.	.	ENSG00000074181	ENST00000263388	T	0.34667	1.35	4.68	4.68	0.58851	Notch, NODP domain (1);	.	.	.	.	T	0.39835	0.1093	M	0.71206	2.165	0.48571	D	0.999677	B	0.26002	0.139	B	0.28305	0.088	T	0.31110	-0.9955	9	0.41790	T	0.15	.	13.108	0.59257	1.0:0.0:0.0:0.0	.	1577	Q9UM47	NOTC3_HUMAN	A	1577	ENSP00000263388:V1577A	ENSP00000263388:V1577A	V	-	2	0	NOTCH3	15145885	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	8.534000	0.90620	1.750000	0.51863	0.402000	0.26972	GTG		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		10	44	0	0	0	1	0	10	44				
SLC36A3	285641	broad.mit.edu	37	5	150678169	150678169	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:150678169C>G	ENST00000335230.3	-	2	615	c.204G>C	c.(202-204)aaG>aaC	p.K68N	SLC36A3_ENST00000377713.3_Missense_Mutation_p.K68N	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	68						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGGCATTCTTTATGGCCA	0.512																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(202-204)aaG>aaC		solute carrier family 36, member 3							90.0	78.0	82.0					5																	150678169		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150678169C>G	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.204G>C	5.37:g.150678169C>G	ENSP00000334750:p.Lys68Asn					SLC36A3_ENST00000377713.3_Missense_Mutation_p.K68N	p.K68N	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	615	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	68					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.204G>C	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442785	0.43326	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.03152	4.03;4.03	4.62	-0.328	0.12690	.	0.000000	0.85682	D	0.000000	T	0.14098	0.0341	M	0.83483	2.645	0.44852	D	0.997862	D;D	0.76494	0.999;0.998	D;D	0.78314	0.986;0.991	T	0.00688	-1.1609	10	0.59425	D	0.04	.	7.201	0.25881	0.0:0.5099:0.0:0.4901	.	68;68	Q495N2-3;Q495N2	.;S36A3_HUMAN	N	68	ENSP00000334750:K68N;ENSP00000366942:K68N	ENSP00000334750:K68N	K	-	3	2	SLC36A3	150658362	1.000000	0.71417	0.988000	0.46212	0.542000	0.35054	0.516000	0.22817	0.024000	0.15214	-0.302000	0.09304	AAG		0.512	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		15	35	0	0	0	1	0	15	35				
DYNLL2	140735	broad.mit.edu	37	17	56166589	56166589	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:56166589C>T	ENST00000579991.2	+	3	497	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	73					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|synaptic target recognition (GO:0008039)|transport (GO:0006810)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)|myosin complex (GO:0016459)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(3)	3						CAAAGCACTTCATCTATTTTT	0.478																																						ENST00000240343.6																			0				lung(3)	3						c.(217-219)ttC>ttT		dynein, light chain, LC8-type 2							163.0	182.0	175.0					17																	56166589		2203	4300	6503	SO:0001819	synonymous_variant	140735				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity	g.chr17:56166589C>T	AF112997	CCDS11601.1	17q23.2	2009-11-18				ENSG00000264364		"""Cytoplasmic dyneins"""	24596	protein-coding gene	gene with protein product	"""radial spoke 22 homolog (Chlamydomonas)"""	608942				16260502	Standard	NM_080677		Approved	MGC17810, Dlc2, DNCL1B, RSPH22	uc010wnn.1	Q96FJ2		ENST00000579991.2:c.219C>T	17.37:g.56166589C>T							p.F73F	NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN			3	497	+			73					B2R5B4	Silent	SNP	ENST00000579991.2	37	c.219C>T	CCDS11601.1																																																																																				0.478	DYNLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443338.2	NM_080677		22	66	0	0	0	1	0	22	66				
CUBN	8029	broad.mit.edu	37	10	17113966	17113966	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:17113966C>T	ENST00000377833.4	-	18	2371	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	769	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCACCATCTCGAACCTAAAG	0.358																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2305-2307)cGa>cAa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						34.0	32.0	33.0					10																	17113966		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17113966C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2306G>A	10.37:g.17113966C>T	ENSP00000367064:p.Arg769Gln						p.R769Q	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			18	2371	-			769			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2306G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710149	0.48517	.	.	ENSG00000107611	ENST00000377833	T	0.29655	1.56	5.18	3.17	0.36434	CUB (5);	0.249386	0.20997	N	0.081923	T	0.60157	0.2247	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.67469	-0.5663	10	0.38643	T	0.18	.	13.9993	0.64424	0.2801:0.7199:0.0:0.0	.	769	O60494	CUBN_HUMAN	Q	769	ENSP00000367064:R769Q	ENSP00000367064:R769Q	R	-	2	0	CUBN	17153972	1.000000	0.71417	0.998000	0.56505	0.391000	0.30476	1.557000	0.36299	1.132000	0.42129	0.454000	0.30748	CGA		0.358	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	17	0	0	0	1	0	5	17				
EPB41	2035	broad.mit.edu	37	1	29313977	29313977	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:29313977G>A	ENST00000343067.4	+	2	155	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.E10K|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.E10K|EPB41_ENST00000398863.2_Missense_Mutation_p.E10K|EPB41_ENST00000356093.2_Missense_Mutation_p.E10K|EPB41_ENST00000347529.3_Missense_Mutation_p.E10K|Y_RNA_ENST00000383977.1_RNA	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	10					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTAGTGACTGAGGCCGAAAA	0.438																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(28-30)Gag>Aag		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							94.0	97.0	96.0					1																	29313977		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29313977G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.28G>A	1.37:g.29313977G>A	ENSP00000345259:p.Glu10Lys					EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.E10K|EPB41_ENST00000356093.2_Missense_Mutation_p.E10K|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E10K|EPB41_ENST00000347529.3_Missense_Mutation_p.E10K|EPB41_ENST00000373798.1_Missense_Mutation_p.E10K	p.E10K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	155	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	10					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.28G>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146878	0.77888	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.85629	-2.01;-1.99;-1.83;-1.8;-2.01;-2.0	5.7	5.7	0.88788	.	0.322330	0.36234	N	0.002702	T	0.81230	0.4779	N	0.24115	0.695	0.39934	D	0.974324	P;B;P;P;P	0.52061	0.862;0.185;0.915;0.915;0.95	B;B;B;P;P	0.48334	0.293;0.03;0.392;0.487;0.574	D	0.84538	0.0637	10	0.87932	D	0	.	14.1068	0.65096	0.0739:0.0:0.9261:0.0	.	10;10;10;10;10	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	K	27;10;10;10;10;10;10;10;10	ENSP00000345259:E10K;ENSP00000348397:E10K;ENSP00000381839:E10K;ENSP00000290100:E10K;ENSP00000362904:E10K;ENSP00000362903:E10K	ENSP00000345259:E10K	E	+	1	0	EPB41	29186564	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.023000	0.64084	2.689000	0.91719	0.650000	0.86243	GAG		0.438	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		27	72	0	0	0	1	0	27	72				
CRTC1	23373	broad.mit.edu	37	19	18864339	18864339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:18864339G>A	ENST00000321949.8	+	6	594	c.568G>A	c.(568-570)Gag>Aag	p.E190K	CRTC1_ENST00000338797.6_Missense_Mutation_p.E206K|CRTC1_ENST00000594658.1_Missense_Mutation_p.E149K|CRTC1_ENST00000601916.1_Missense_Mutation_p.E115K	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGGAATGGAAGAGACCACATC	0.463																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(616-618)Gag>Aag		CREB regulated transcription coactivator 1							206.0	217.0	213.0					19																	18864339		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18864339G>A	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.568G>A	19.37:g.18864339G>A	ENSP00000323332:p.Glu190Lys					CRTC1_ENST00000601916.1_Missense_Mutation_p.E115K|CRTC1_ENST00000594658.1_Missense_Mutation_p.E149K|CRTC1_ENST00000321949.8_Missense_Mutation_p.E190K	p.E206K	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			7	641	+			190						Missense_Mutation	SNP	ENST00000321949.8	37	c.616G>A	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225887	0.58668	.	.	ENSG00000105662	ENST00000262813;ENST00000338797;ENST00000321949	T;T	0.49432	0.78;0.78	4.73	4.73	0.59995	Transducer of regulated CREB activity, middle domain (1);	0.591550	0.17667	N	0.166106	T	0.43567	0.1253	L	0.42744	1.35	0.36929	D	0.891806	B;B;B	0.18166	0.026;0.008;0.013	B;B;B	0.17979	0.012;0.009;0.02	T	0.46331	-0.9199	10	0.40728	T	0.16	-11.6317	16.7143	0.85394	0.0:0.0:1.0:0.0	.	190;206;190	Q6UUV9-3;Q6UUV9-2;Q6UUV9	.;.;CRTC1_HUMAN	K	190;206;190	ENSP00000345001:E206K;ENSP00000323332:E190K	ENSP00000262813:E190K	E	+	1	0	CRTC1	18725339	1.000000	0.71417	0.707000	0.30419	0.930000	0.56654	5.345000	0.65987	2.173000	0.68751	0.655000	0.94253	GAG		0.463	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		111	196	0	0	0	1	0	111	196				
WDR59	79726	broad.mit.edu	37	16	74919617	74919617	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:74919617G>C	ENST00000262144.6	-	25	2753	c.2623C>G	c.(2623-2625)Ctg>Gtg	p.L875V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	875										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTCTCTCTCAGACCCCAACGG	0.463																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2623-2625)Ctg>Gtg		WD repeat domain 59							113.0	102.0	106.0					16																	74919617		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74919617G>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2623C>G	16.37:g.74919617G>C	ENSP00000262144:p.Leu875Val						p.L875V	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			25	2753	-			875					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2623C>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937458	0.73557	.	.	ENSG00000103091	ENST00000262144	D	0.81908	-1.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89375	0.6697	M	0.93420	3.415	0.80722	D	1	P;P	0.40909	0.612;0.732	B;B	0.41988	0.206;0.372	D	0.91863	0.5501	10	0.72032	D	0.01	-14.403	19.0883	0.93215	0.0:0.0:1.0:0.0	.	875;320	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	V	875	ENSP00000262144:L875V	ENSP00000262144:L875V	L	-	1	2	WDR59	73477118	1.000000	0.71417	0.994000	0.49952	0.906000	0.53458	7.851000	0.86920	2.500000	0.84329	0.561000	0.74099	CTG		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		24	40	0	0	0	1	0	24	40				
ZNF786	136051	broad.mit.edu	37	7	148769033	148769033	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:148769033G>A	ENST00000491431.1	-	4	895	c.831C>T	c.(829-831)ttC>ttT	p.F277F	ZNF786_ENST00000316286.9_Silent_p.F191F|ZNF786_ENST00000451334.3_Silent_p.F240F	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTCGTGTCGGAAGCACATTT	0.677																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(571-573)ttC>ttT		zinc finger protein 786							23.0	29.0	27.0					7																	148769033		2163	4254	6417	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769033G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.831C>T	7.37:g.148769033G>A						ZNF786_ENST00000491431.1_Silent_p.F277F|ZNF786_ENST00000451334.3_Silent_p.F240F	p.F191F			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	845	-	Melanoma(164;0.15)		277					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.573C>T	CCDS47738.1																																																																																				0.677	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		19	30	0	0	0	1	0	19	30				
MACF1	23499	broad.mit.edu	37	1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:39763324C>G	ENST00000372915.3	+	20	2490	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L|MACF1_ENST00000564288.1_Missense_Mutation_p.F796L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000567887.1_Missense_Mutation_p.F833L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	801					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2386-2388)ttC>ttG		microtubule-actin crosslinking factor 1							139.0	134.0	136.0					1																	39763324		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39763324C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2403C>G	1.37:g.39763324C>G	ENSP00000362006:p.Phe801Leu					MACF1_ENST00000567887.1_Missense_Mutation_p.F833L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L|MACF1_ENST00000372915.3_Missense_Mutation_p.F801L	p.F796L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		21	3165	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	801					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2388C>G		.	.	.	.	.	.	.	.	.	.	C	17.32	3.359814	0.61403	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	6.06	4.19	0.49359	.	.	.	.	.	D	0.89935	0.6859	L	0.36672	1.1	0.80722	D	1	B;B	0.15473	0.013;0.0	B;B	0.08055	0.003;0.003	D	0.84913	0.0849	9	0.49607	T	0.09	.	9.4037	0.38449	0.0:0.7837:0.0:0.2163	.	801;766	F8W8Q1;Q9UPN3-3	.;.	L	801;801;801;801;801;759;950;961	ENSP00000439537:F801L;ENSP00000362006:F801L;ENSP00000354573:F801L;ENSP00000313438:F801L;ENSP00000444364:F801L;ENSP00000435070:F759L;ENSP00000437059:F950L	ENSP00000313438:F801L	F	+	3	2	MACF1	39535911	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.643000	0.37217	0.884000	0.36064	0.655000	0.94253	TTC		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		33	75	0	0	0	1	0	33	75				
ASPH	444	broad.mit.edu	37	8	62416025	62416025	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:62416025C>G	ENST00000379454.4	-	25	2357	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	ASPH_ENST00000541428.1_Missense_Mutation_p.E695Q	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	724					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACCTCGTGCTCAAAGGAGTCA	0.512																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2083-2085)Gag>Cag		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						126.0	93.0	104.0					8																	62416025		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62416025C>G	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2170G>C	8.37:g.62416025C>G	ENSP00000368767:p.Glu724Gln					ASPH_ENST00000379454.4_Missense_Mutation_p.E724Q	p.E695Q	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			25	2243	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	724					A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.2083G>C	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360413	0.95877	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.47869	0.83;0.83	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.83275	0.797;0.996	T	0.83039	-0.0158	10	0.72032	D	0.01	-35.0982	20.2245	0.98337	0.0:1.0:0.0:0.0	.	695;724	F5H667;Q12797	.;ASPH_HUMAN	Q	695;724	ENSP00000437864:E695Q;ENSP00000368767:E724Q	ENSP00000368767:E724Q	E	-	1	0	ASPH	62578579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.861000	0.98227	0.650000	0.86243	GAG		0.512	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		14	40	0	0	0	1	0	14	40				
BMI1	648	broad.mit.edu	37	10	22618352	22618352	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:22618352C>T	ENST00000376663.3	+	10	1367	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	RP11-573G6.9_ENST00000606988.1_lincRNA|COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.H431Y	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	288	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ACAGTTTCCTCACATTTCCAG	0.498																																						ENST00000376663.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(862-864)Cac>Tac		BMI1 polycomb ring finger oncogene							166.0	151.0	156.0					10																	22618352		2203	4300	6503	SO:0001583	missense	648							g.chr10:22618352C>T	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.862C>T	10.37:g.22618352C>T	ENSP00000365851:p.His288Tyr					COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.H431Y	p.H288Y	NM_005180.8	NP_005171.4					10	1367	+								Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	c.862C>T	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429628	0.43122	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	T	0.31247	1.5	5.58	5.58	0.84498	.	0.327521	0.36591	N	0.002520	T	0.26666	0.0652	L	0.29908	0.895	0.51482	D	0.999926	P;P	0.45126	0.851;0.851	B;B	0.38880	0.284;0.284	T	0.03166	-1.1065	10	0.51188	T	0.08	-0.7169	19.1861	0.93644	0.0:1.0:0.0:0.0	.	288;288	Q5U0M5;P35226	.;BMI1_HUMAN	Y	200;288	ENSP00000365851:H288Y	ENSP00000365851:H288Y	H	+	1	0	BMI1	22658358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.940000	0.75917	2.638000	0.89438	0.650000	0.86243	CAC		0.498	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		8	97	0	0	0	1	0	8	97				
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824712	+	lincRNA	DEL	TTT	TTT	-	rs57565986	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:106824710_106824712delTTT	ENST00000484698.1	-	0	295									long intergenic non-protein coding RNA 882																		tttttatatcttttttttttttt	0.453																																						ENST00000484698.1																			0																																																			100302640							g.chr3:106824710_106824712delTTT			3q13.12	2014-06-03			ENSG00000242759	ENSG00000242759		"""Long non-coding RNAs"""	48568	non-coding RNA	RNA, long non-coding						24886442	Standard	NR_028303		Approved				OTTHUMG00000159196		3.37:g.106824719_106824721delTTT														0	295	-									RNA	DEL	ENST00000484698.1	37																																																																																						0.453	LINC00882-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353788.1			2	4						2	4	---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20490622	20490623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:20490622_20490623insC	ENST00000346618.3	+	7	1425_1426	c.1359_1360insC	c.(1360-1362)gaafs	p.E454fs	E2F3_ENST00000535432.1_Frame_Shift_Ins_p.E323fs	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	454	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTTACGATTTGGAAAAGCTCCC	0.465																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1357-1362)ttaaaafs		E2F transcription factor 3																																				SO:0001589	frameshift_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20490622_20490623insC	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	Exception_encountered	6.37:g.20490622_20490623insC	ENSP00000262904:p.Glu454fs					E2F3_ENST00000535432.1_Frame_Shift_Ins_p.L322fs	p.L453fs	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		7	1425_1426	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		453			Transactivation (Potential).		Q15000|Q68DT0|Q9BZ44	Frame_Shift_Ins	INS	ENST00000346618.3	37	c.1359_1360insC	CCDS4545.1																																																																																				0.465	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			45	121						45	121	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			644619							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		3	4						3	4	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	100200372	100200372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:100200372delT	ENST00000547776.2	-	4	478	c.479delA	c.(478-480)aagfs	p.K160fs	ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.K160fs|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	160						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)		TGTTTCCAGCTTGCTATTTCT	0.463																																						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.(478-480)agfs		ankyrin repeat and sterile alpha motif domain containing 1B							129.0	125.0	126.0					12																	100200372		1969	4156	6125	SO:0001589	frameshift_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100200372delT	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.479delA	12.37:g.100200372delT	ENSP00000449629:p.Lys160fs					ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.K160fs|ANKS1B_ENST00000547010.1_Intron	p.K160fs	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	478	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	160					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Frame_Shift_Del	DEL	ENST00000547776.2	37	c.479delA	CCDS55872.1																																																																																				0.463	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		23	40						23	40	---	---	---	---
MLNR	2862	broad.mit.edu	37	13	49794682	49794682	+	Frame_Shift_Del	DEL	G	G	-	rs201726096		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:49794682delG	ENST00000218721.1	+	1	209	c.209delG	c.(208-210)cggfs	p.R70fs	MLNR_ENST00000398307.1_Frame_Shift_Del_p.R70fs	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	70					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGGACATGCGGACCACCACC	0.677																																						ENST00000398307.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(208-210)cgfs		motilin receptor							97.0	65.0	76.0					13																	49794682		2203	4300	6503	SO:0001589	frameshift_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49794682delG	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.209delG	13.37:g.49794682delG	ENSP00000218721:p.Arg70fs					MLNR_ENST00000218721.1_Frame_Shift_Del_p.R70fs	p.R70fs			O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	209	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	70						Frame_Shift_Del	DEL	ENST00000218721.1	37	c.209delG	CCDS9414.1																																																																																				0.677	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		12	18						12	18	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138372	20138372	+	RNA	DEL	G	G	-	rs542749146|rs368935470		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:20138372delG	ENST00000548261.1	+	0	391																											TGAAACAaaagaaagaaagaa	0.398																																						ENST00000548261.1																			0																																																			0							g.chr14:20138372delG																													14.37:g.20138372delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.398	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	4						3	4	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102550210	102550211	+	Frame_Shift_Ins	INS	-	-	TTTT	rs143611681		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:102550210_102550211insTTTT	ENST00000216281.8	-	7	1462_1463	c.1257_1258insAAAA	c.(1255-1260)aaatgcfs	p.C420fs	HSP90AA1_ENST00000334701.7_Frame_Shift_Ins_p.C542fs|HSP90AA1_ENST00000441629.2_Frame_Shift_Ins_p.C241fs	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	420					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AGTTCTAAGCATTTTTTGACCA	0.371																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1621-1626)aagcttfs		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001589	frameshift_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102550210_102550211insTTTT	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1254_1257dupAAAA	14.37:g.102550211_102550214dupTTTT	ENSP00000216281:p.Cys420fs					HSP90AA1_ENST00000441629.2_Frame_Shift_Ins_p.L241fs|HSP90AA1_ENST00000216281.8_Frame_Shift_Ins_p.L420fs	p.L542fs	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			8	1904_1905	-			420					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Frame_Shift_Ins	INS	ENST00000216281.8	37	c.1623_1624insAAAA	CCDS9967.1																																																																																				0.371	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		7	38						7	38	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20644130	20644130	+	RNA	DEL	C	C	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:20644130delC	ENST00000428453.1	-	0	3384							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			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						GCTGCCCAATCCCTACAGGTT	0.542																																						ENST00000428453.1																			0				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															3.0	2.0	2.0					15																	20644130		1662	3054	4716			283755							g.chr15:20644130delC	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.20644130delC														0	3384	-									RNA	DEL	ENST00000428453.1	37																																																																																						0.542	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		6	13						6	13	---	---	---	---
TMEM259	91304	broad.mit.edu	37	19	1010403	1010403	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:1010403delC	ENST00000356663.3	-	11	1930	c.1809delG	c.(1807-1809)gggfs	p.G603fs	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	603						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CCGGGCTAGGCCCGCCTACCG	0.736																																						ENST00000356663.3																			0											c.(1807-1809)ggfs		transmembrane protein 259							3.0	4.0	4.0					19																	1010403		1915	3888	5803	SO:0001589	frameshift_variant	91304							g.chr19:1010403delC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1809delG	19.37:g.1010403delC	ENSP00000349087:p.Gly603fs					TMEM259_ENST00000333175.5_3'UTR	p.G603fs	NM_001033026.1	NP_001028198.1					11	1930	-								O60392|Q8NF79|Q96H30	Frame_Shift_Del	DEL	ENST00000356663.3	37	c.1809delG	CCDS32862.1																																																																																				0.736	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		2	4						2	4	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60884502	60884503	+	Frame_Shift_Ins	INS	-	-	GG	rs372010070	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:60884502_60884503insGG	ENST00000252999.3	-	80	11043_11044	c.10977_10978insCC	c.(10975-10980)cccgccfs	p.A3660fs	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3660	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCAGTAGGCGGGGGGCCAGG	0.688																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10975-10980)cccctafs		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60884502_60884503insGG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10976_10977dupCC	20.37:g.60884507_60884508dupGG	ENSP00000252999:p.Ala3660fs						p.L3660fs	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		80	11043_11044	-	Breast(26;1.57e-08)		3660			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Ins	INS	ENST00000252999.3	37	c.10977_10978insCC	CCDS33502.1																																																																																				0.688	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	17						8	17	---	---	---	---
