#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
UBC	7316	broad.mit.edu	37	12	125397415	125397415	+	Silent	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:125397415G>A	ENST00000536769.1	-	1	2479	c.903C>T	c.(901-903)ctC>ctT	p.L301L	UBC_ENST00000546120.1_Silent_p.L225L|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000339647.5_Silent_p.L301L|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	301	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.532																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(901-903)ctC>ctT		ubiquitin C							69.0	61.0	64.0					12																	125397415		2202	4284	6486	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397415G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.903C>T	12.37:g.125397415G>A						UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L301L	p.L301L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2479	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.903C>T	CCDS9260.1																																																																																				0.532	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		5	144	0	0	0	1	0	5	144				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	190	0	0	0	1	0	8	190				
HELZ2	85441	broad.mit.edu	37	20	62199815	62199815	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr20:62199815G>C	ENST00000467148.1	-	5	1695	c.1626C>G	c.(1624-1626)atC>atG	p.I542M	HELZ2_ENST00000427522.2_5'Flank|HELZ2_ENST00000479540.1_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	542					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGGGGCCATAGATGAGTAGCG	0.667																																						ENST00000467148.1																			0											c.(1624-1626)atC>atG		helicase with zinc finger 2, transcriptional coactivator							39.0	36.0	37.0					20																	62199815		2188	4295	6483	SO:0001583	missense	85441							g.chr20:62199815G>C	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1626C>G	20.37:g.62199815G>C	ENSP00000417401:p.Ile542Met					RP4-697K14.12_ENST00000454223.1_RNA	p.I542M	NM_001037335.2	NP_001032412.2					5	1695	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1626C>G	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959717	0.53400	.	.	ENSG00000130589	ENST00000467148	D	0.86956	-2.19	4.49	3.28	0.37604	ATPase, AAA+ type, core (1);	0.133216	0.48286	D	0.000182	D	0.93350	0.7880	M	0.93150	3.385	0.29070	N	0.883371	D	0.63046	0.992	P	0.61070	0.883	D	0.88603	0.3151	10	0.87932	D	0	-23.7242	10.1608	0.42851	0.1797:0.0:0.8203:0.0	.	542	Q9BYK8	PR285_HUMAN	M	542	ENSP00000417401:I542M	ENSP00000417401:I542M	I	-	3	3	RP4-697K14.7	61670259	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	0.934000	0.28910	2.070000	0.61991	0.558000	0.71614	ATC		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	5	0	0	0	1	0	6	5				
NETO1	81832	broad.mit.edu	37	18	70450954	70450954	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr18:70450954C>T	ENST00000327305.6	-	7	1484	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q|NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCGGCTGTTTCGACTGCCCTC	0.463																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(826-828)cGa>cAa		neuropilin (NRP) and tolloid (TLL)-like 1							158.0	138.0	145.0					18																	70450954		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70450954C>T	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.827G>A	18.37:g.70450954C>T	ENSP00000313088:p.Arg276Gln					NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q|NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q	p.R276Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	7	1484	-		Esophageal squamous(42;0.129)	276			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.827G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210162	0.95069	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.16597	2.33;2.33	5.54	5.54	0.83059	CUB (5);	0.000000	0.50627	D	0.000103	T	0.44623	0.1302	M	0.72479	2.2	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.913	T	0.28933	-1.0028	10	0.66056	D	0.02	-12.325	19.8487	0.96730	0.0:1.0:0.0:0.0	.	275;276	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	Q	276;275	ENSP00000313088:R276Q;ENSP00000299430:R275Q	ENSP00000299430:R275Q	R	-	2	0	NETO1	68601934	1.000000	0.71417	0.139000	0.22197	0.938000	0.57974	7.776000	0.85560	2.748000	0.94277	0.650000	0.86243	CGA		0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		8	164	0	0	0	1	0	8	164				
HTR3A	3359	broad.mit.edu	37	11	113856738	113856738	+	Splice_Site	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr11:113856738C>G	ENST00000504030.2	+	6	991	c.546C>G	c.(544-546)atC>atG	p.I182M	HTR3A_ENST00000355556.2_Splice_Site_p.I188M|HTR3A_ENST00000506841.2_Splice_Site_p.I182M|HTR3A_ENST00000375498.2_Splice_Site_p.I188M|HTR3A_ENST00000299961.5_Splice_Site_p.I167M|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	182					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CTCTCTCAGTCCAGGACATCA	0.532																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.e6-1		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						191.0	201.0	198.0					11																	113856738		2201	4296	6497	SO:0001630	splice_region_variant	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856738C>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.545-1C>G	11.37:g.113856738C>G						HTR3A_ENST00000506841.2_Splice_Site_p.I182_splice|HTR3A_ENST00000375498.2_Splice_Site_p.I188_splice|HTR3A_ENST00000299961.5_Splice_Site_p.I167_splice|HTR3A_ENST00000355556.2_Splice_Site_p.I188_splice|HTR3A_ENST00000535865.1_Intron	p.I182_splice			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	991	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	182					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Splice_Site	SNP	ENST00000504030.2	37	c.544_splice		.	.	.	.	.	.	.	.	.	.	C	16.60	3.167165	0.57476	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	4.97	4.04	0.47022	.	0.050975	0.85682	D	0.000000	T	0.81297	0.4793	L	0.58428	1.81	0.80722	D	1	P;P;P	0.52316	0.848;0.952;0.934	P;P;P	0.61003	0.819;0.73;0.882	T	0.81634	-0.0844	10	0.72032	D	0.01	.	6.694	0.23189	0.1495:0.7052:0.0:0.1453	.	167;188;188	B4DSY6;G5E986;Q7KZM7	.;.;.	M	182;188;188;182;167	ENSP00000424189:I182M;ENSP00000347754:I188M;ENSP00000364648:I188M;ENSP00000424776:I182M;ENSP00000299961:I167M	ENSP00000299961:I167M	I	+	3	3	HTR3A	113361948	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.440000	0.35024	2.457000	0.83068	0.655000	0.94253	ATC		0.532	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	Missense_Mutation	5	344	0	0	0	1	0	5	344				
BOD1L1	259282	broad.mit.edu	37	4	13601009	13601009	+	Silent	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:13601009C>T	ENST00000040738.5	-	10	7650	c.7515G>A	c.(7513-7515)ctG>ctA	p.L2505L		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2505						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGGTCCTCTCAGGTGGGCAG	0.532											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7513-7515)ctG>ctA		biorientation of chromosomes in cell division 1-like 1							66.0	55.0	59.0					4																	13601009		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13601009C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7515G>A	4.37:g.13601009C>T			OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.L2505L	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7650	-			2505					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.7515G>A	CCDS3411.2																																																																																				0.532	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	49	0	0	0	1	0	4	49				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	12	0	0	0	1	0	3	12				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		5	198	0	0	0	1	0	5	198				
WDR34	89891	broad.mit.edu	37	9	131397371	131397371	+	Splice_Site	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:131397371C>T	ENST00000372715.2	-	6	1041	c.981G>A	c.(979-981)aaG>aaA	p.K327K	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	327						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						GCCCACGTACCTTCTTGAGCT	0.647											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.e6+1		WD repeat domain 34							60.0	56.0	58.0					9																	131397371		2203	4300	6503	SO:0001630	splice_region_variant	89891					cytoplasm		g.chr9:131397371C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.981+1G>A	9.37:g.131397371C>T			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_5'UTR	p.K327_splice	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			6	1041	-			327					Q5VXV4|Q9BV46	Splice_Site	SNP	ENST00000372715.2	37	c.981_splice	CCDS6906.2																																																																																				0.647	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844	Silent	21	55	0	0	0	1	0	21	55				
BBS2	583	broad.mit.edu	37	16	56535329	56535329	+	Silent	SNP	G	G	C	rs71387119		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr16:56535329G>C	ENST00000245157.5	-	10	1581	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	BBS2_ENST00000568104.1_Silent_p.L387L|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	387					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GGCTGACTGAGAGCGTGGTGT	0.522									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1159-1161)ctC>ctG		Bardet-Biedl syndrome 2							225.0	201.0	209.0					16																	56535329		2198	4300	6498	SO:0001819	synonymous_variant	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535329G>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1161C>G	16.37:g.56535329G>C						BBS2_ENST00000568104.1_Silent_p.L387L	p.L387L	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			10	1581	-			387					Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	c.1161C>G	CCDS32451.1																																																																																				0.522	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		5	194	0	0	0	1	0	5	194				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	56	0	0	0	1	0	3	56				
TET2	54790	broad.mit.edu	37	4	106156119	106156119	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:106156119C>G	ENST00000540549.1	+	3	1880	c.1020C>G	c.(1018-1020)atC>atG	p.I340M	TET2_ENST00000394764.1_Missense_Mutation_p.I340M|TET2_ENST00000380013.4_Missense_Mutation_p.I340M|TET2_ENST00000513237.1_Missense_Mutation_p.I361M|TET2_ENST00000413648.2_Missense_Mutation_p.I340M|TET2_ENST00000545826.1_Missense_Mutation_p.I340M|TET2_ENST00000305737.2_Missense_Mutation_p.I340M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	340					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q341fs*6(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AAAATAACATCCAGGGAACCA	0.418			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		1	Deletion - Frameshift(1)	p.Q341fs*6(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(1081-1083)atC>atG		tet methylcytosine dioxygenase 2							68.0	64.0	65.0					4																	106156119		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156119C>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1020C>G	4.37:g.106156119C>G	ENSP00000442788:p.Ile340Met					TET2_ENST00000413648.2_Missense_Mutation_p.I340M|TET2_ENST00000305737.2_Missense_Mutation_p.I340M|TET2_ENST00000545826.1_Missense_Mutation_p.I340M|TET2_ENST00000540549.1_Missense_Mutation_p.I340M|TET2_ENST00000380013.4_Missense_Mutation_p.I340M|TET2_ENST00000394764.1_Missense_Mutation_p.I340M	p.I361M			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	1880	+		Myeloproliferative disorder(5;0.0393)	340					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.1083C>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	4.557	0.103422	0.08731	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.04015	3.73;4.39;3.73;4.38;4.39;3.73;3.74	4.98	0.993	0.19825	.	673.818000	0.00166	N	0.000000	T	0.05181	0.0138	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18166	0.004;0.004;0.026	B;B;B	0.16289	0.004;0.004;0.015	T	0.40421	-0.9564	10	0.72032	D	0.01	.	4.4115	0.11436	0.0:0.3932:0.315:0.2918	.	361;340;340	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	M	340;340;340;361;340;340;340;340	ENSP00000306705:I340M;ENSP00000442788:I340M;ENSP00000442867:I340M;ENSP00000425443:I361M;ENSP00000369351:I340M;ENSP00000378245:I340M;ENSP00000391448:I340M	ENSP00000265149:I340M	I	+	3	3	TET2	106375568	0.002000	0.14202	0.000000	0.03702	0.604000	0.37047	-0.123000	0.10611	-0.137000	0.11455	0.655000	0.94253	ATC		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		4	66	0	0	0	1	0	4	66				
ALPPL2	251	broad.mit.edu	37	2	233272321	233272321	+	Silent	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr2:233272321G>A	ENST00000295453.3	+	4	370	c.318G>A	c.(316-318)aaG>aaA	p.K106K		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	106					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GTGTAGACAAGCATGTGCCAG	0.567																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(316-318)aaG>aaA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						66.0	56.0	59.0					2																	233272321		2203	4300	6503	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272321G>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.318G>A	2.37:g.233272321G>A							p.K106K	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	370	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	106					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.318G>A	CCDS2491.1																																																																																				0.567	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		4	51	0	0	0	1	0	4	51				
ATP1A3	478	broad.mit.edu	37	19	42490290	42490290	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:42490290G>C	ENST00000302102.5	-	5	599	c.449C>G	c.(448-450)tCc>tGc	p.S150C	ATP1A3_ENST00000543770.1_Missense_Mutation_p.S161C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.S163C|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S120C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	150					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTTCTTGAAGGACTCCATGAT	0.632																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(487-489)tCc>tGc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							101.0	92.0	95.0					19																	42490290		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490290G>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.449C>G	19.37:g.42490290G>C	ENSP00000302397:p.Ser150Cys					ATP1A3_ENST00000602133.1_Missense_Mutation_p.S120C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S161C|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S150C	p.S163C	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			5	641	-			150					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.488C>G	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330928	0.81690	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.2	4.2	0.49525	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96225	0.8769	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	D	0.97521	1.0073	10	0.87932	D	0	.	14.4187	0.67168	0.0:0.0:1.0:0.0	.	163;161;150;150	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	150;150;163;120;161	ENSP00000302397:S150C;ENSP00000411503:S150C;ENSP00000444688:S163C;ENSP00000437577:S161C	ENSP00000302397:S150C	S	-	2	0	ATP1A3	47182130	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.957000	0.87870	2.074000	0.62210	0.491000	0.48974	TCC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		4	94	0	0	0	1	0	4	94				
ZNF436	80818	broad.mit.edu	37	1	23695869	23695869	+	5'UTR	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:23695869G>A	ENST00000314011.4	-	0	66				C1orf213_ENST00000458053.1_Intron|ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000437367.2_Missense_Mutation_p.A27T|Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000454117.1_Missense_Mutation_p.A27T|C1orf213_ENST00000335648.3_Missense_Mutation_p.A27T|C1orf213_ENST00000518821.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|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(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CTCCTGTCCCGCAAAAGATCC	0.572																																						ENST00000335648.3																			0				kidney(1)	1						c.(79-81)Gca>Aca									43.0	48.0	47.0					1																	23695869		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0							g.chr1:23695869G>A	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.-71C>T	1.37:g.23695869G>A						ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000454117.1_Missense_Mutation_p.A27T|C1orf213_ENST00000437367.2_Missense_Mutation_p.A27T	p.A27T						UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	141	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.79G>A	CCDS233.1	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309555	0.10733	.	.	ENSG00000249087	ENST00000454117;ENST00000335648;ENST00000437367	.	.	.	3.76	-0.938	0.10412	.	.	.	.	.	T	0.13970	0.0338	.	.	.	0.09310	N	1	P;B	0.36974	0.576;0.422	B;B	0.22753	0.041;0.041	T	0.18967	-1.0320	7	0.87932	D	0	.	1.2032	0.01889	0.1395:0.1735:0.3317:0.3553	.	27;27	Q8NC38;E5RFN3	CA213_HUMAN;.	T	27	.	ENSP00000441287:A27T	A	+	1	0	C1orf213	23568456	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.210000	0.09345	-0.160000	0.11002	-0.238000	0.12139	GCA		0.572	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		4	58	0	0	0	1	0	4	58				
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.H284R(1)	endometrium(1)																																																0							g.chr3:75475639T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475639T>C								NR_024241.1						0	890	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.662	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	112	0	0	0	1	0	4	112				
TNC	3371	broad.mit.edu	37	9	117803286	117803286	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:117803286G>C	ENST00000350763.4	-	19	5737	c.5326C>G	c.(5326-5328)Ctt>Gtt	p.L1776V	TNC_ENST00000346706.3_Missense_Mutation_p.L1230V|TNC_ENST00000341037.4_Missense_Mutation_p.L1594V|TNC_ENST00000423613.2_Missense_Mutation_p.L1503V|TNC_ENST00000542877.1_Missense_Mutation_p.L1413V|TNC_ENST00000535648.1_Missense_Mutation_p.L1321V|TNC_ENST00000537320.1_Missense_Mutation_p.L1139V|TNC_ENST00000345230.3_Missense_Mutation_p.L1139V|TNC_ENST00000340094.3_Missense_Mutation_p.L1412V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1776	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.L1776I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATGCTGACAAGGTACTCCACG	0.512																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.L1776I(1)	endometrium(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(5326-5328)Ctt>Gtt		tenascin C							207.0	169.0	181.0					9																	117803286		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117803286G>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5326C>G	9.37:g.117803286G>C	ENSP00000265131:p.Leu1776Val					TNC_ENST00000535648.1_Missense_Mutation_p.L1321V|TNC_ENST00000423613.2_Missense_Mutation_p.L1503V|TNC_ENST00000340094.3_Missense_Mutation_p.L1412V|TNC_ENST00000537320.1_Missense_Mutation_p.L1139V|TNC_ENST00000341037.4_Missense_Mutation_p.L1594V|TNC_ENST00000346706.3_Missense_Mutation_p.L1230V|TNC_ENST00000345230.3_Missense_Mutation_p.L1139V|TNC_ENST00000542877.1_Missense_Mutation_p.L1413V	p.L1776V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			19	5737	-			1776			Fibronectin type-III 13.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5326C>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.128|8.128	0.782350|0.782350	0.16189|0.16189	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5|.	6.08|6.08	3.22|3.22	0.36961|0.36961	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.743029|.	0.13205|.	N|.	0.405628|.	T|T	0.26882|0.26882	0.0658|0.0658	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.28760|.	0.221;0.011|.	B;B|.	0.35727|.	0.209;0.035|.	T|T	0.20706|0.20706	-1.0267|-1.0267	10|5	0.32370|.	T|.	0.25|.	.|.	6.3711|6.3711	0.21481|0.21481	0.1436:0.0:0.4392:0.4173|0.1436:0.0:0.4392:0.4173	.|.	1503;1776|.	E9PC84;P24821|.	.;TENA_HUMAN|.	V|R	1412;1321;1230;1139;1776;1594;1503;1139;1413|338	ENSP00000344400:L1412V;ENSP00000438152:L1321V;ENSP00000344555:L1230V;ENSP00000345861:L1139V;ENSP00000265131:L1776V;ENSP00000339553:L1594V;ENSP00000411406:L1503V;ENSP00000443478:L1139V;ENSP00000442242:L1413V|.	ENSP00000344400:L1412V|.	L|P	-|-	1|2	0|0	TNC|TNC	116843107|116843107	0.957000|0.957000	0.32711|0.32711	0.498000|0.498000	0.27564|0.27564	0.355000|0.355000	0.29361|0.29361	1.422000|1.422000	0.34826|0.34826	0.419000|0.419000	0.25927|0.25927	-0.140000|-0.140000	0.14226|0.14226	CTT|CCT		0.512	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	57	0	0	0	1	0	7	57				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	12	1	0	0.00909568	1	0.00922562	3	12				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	31	0	0	0	1	0	6	31				
ZBTB43	23099	broad.mit.edu	37	9	129595683	129595683	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:129595683G>A	ENST00000373464.4	+	3	1159	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	ZBTB43_ENST00000449886.1_Missense_Mutation_p.E299K|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E299K	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	299					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(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGAAAGTGGAAGCTGAGTT	0.522																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(895-897)Gaa>Aaa		zinc finger and BTB domain containing 43							66.0	66.0	66.0					9																	129595683		2203	4300	6503	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595683G>A	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.895G>A	9.37:g.129595683G>A	ENSP00000362563:p.Glu299Lys					ZBTB43_ENST00000449886.1_Missense_Mutation_p.E299K|ZBTB43_ENST00000373457.1_Missense_Mutation_p.E299K	p.E299K	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1159	+			299					Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.895G>A	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	1.678	-0.507233	0.04231	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.11385	2.78;2.78;2.78	5.51	5.51	0.81932	.	0.127772	0.51477	D	0.000098	T	0.08626	0.0214	N	0.24115	0.695	0.37433	D	0.91412	B	0.20261	0.043	B	0.24006	0.05	T	0.29488	-1.0010	10	0.13853	T	0.58	.	15.284	0.73814	0.0:0.1397:0.8603:0.0	.	299	O43298	ZBT43_HUMAN	K	299	ENSP00000390344:E299K;ENSP00000362563:E299K;ENSP00000362556:E299K	ENSP00000362556:E299K	E	+	1	0	ZBTB43	128635504	1.000000	0.71417	0.998000	0.56505	0.294000	0.27393	6.640000	0.74319	2.748000	0.94277	0.462000	0.41574	GAA		0.522	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		15	23	0	0	0	1	0	15	23				
CC2D2A	57545	broad.mit.edu	37	4	15559105	15559105	+	Missense_Mutation	SNP	G	G	A	rs187003641	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:15559105G>A	ENST00000503292.1	+	22	2984	c.2804G>A	c.(2803-2805)cGa>cAa	p.R935Q	CC2D2A_ENST00000389652.5_Missense_Mutation_p.R886Q|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R935Q|CC2D2A_ENST00000424120.1_Missense_Mutation_p.R935Q	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	935					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTCTATGACCGAGAAATTATG	0.358													G|||	7	0.00139776	0.0	0.0101	5008	,	,		17078	0.0		0.0	False		,,,				2504	0.0					ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2803-2805)cGa>cAa		coiled-coil and C2 domain containing 2A							37.0	34.0	35.0					4																	15559105		1820	4072	5892	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15559105G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2804G>A	4.37:g.15559105G>A	ENSP00000421809:p.Arg935Gln					CC2D2A_ENST00000413206.1_Missense_Mutation_p.R935Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R886Q|CC2D2A_ENST00000503292.1_Missense_Mutation_p.R935Q	p.R935Q			Q9P2K1	C2D2A_HUMAN			21	3058	+			935					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2804G>A	CCDS47026.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	G	24.2	4.500212	0.85176	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.84873	-1.9;-1.9;-1.9;-1.91	4.8	4.8	0.61643	.	0.148184	0.43416	D	0.000580	D	0.89065	0.6609	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.956	D	0.88669	0.3194	10	0.30854	T	0.27	.	17.8691	0.88806	0.0:0.0:1.0:0.0	.	935;886	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Q	935;935;886;886;935;886	ENSP00000403465:R935Q;ENSP00000398391:R935Q;ENSP00000421809:R935Q;ENSP00000374303:R886Q	ENSP00000374303:R886Q	R	+	2	0	CC2D2A	15168203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.206000	0.71126	0.655000	0.94253	CGA		0.358	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		7	9	0	0	0	1	0	7	9				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		32	33	0	0	0	1	0	32	33				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	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.34+1G>A	1.37:g.16918653C>T								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)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	41	0	0	0	1	0	5	41				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							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	62	0	0	0	1	0	3	62				
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C	rs540749159	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T408T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662													-|||	16	0.00319489	0.0053	0.0014	5008	,	,		9339	0.001		0.003	False		,,,				2504	0.0041					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T408T(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1222-1224)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276075T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1224T>C	1.37:g.186276075T>C						PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367484.3_Intron	p.T408T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1269	+			408			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1224T>C	CCDS1369.1																																																																																				0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	132	0	0	0	1	0	12	132				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	20	0	0	0	1	0	4	20				
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	lincRNA	SNP	C	C	T	rs199960649		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:142713944C>T	ENST00000610091.1	-	0	1714																											TGATTACCTCCGAAGTTAAAG	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713944C>T																													1.37:g.142713944C>T														0	661	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	18	0	0	0	1	0	3	18				
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TCACTGACATCGAAGGCTGCC	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659593C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659593C>T								NR_003714.1						0	3118	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	32	0	0	0	1	0	6	32				
SLC30A5	64924	broad.mit.edu	37	5	68417622	68417622	+	Silent	SNP	A	A	G	rs144055477		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr5:68417622A>G	ENST00000396591.3	+	13	2281	c.1671A>G	c.(1669-1671)tcA>tcG	p.S557S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	557	His-rich loop.				cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGTCACTCATCTGATCACA	0.517																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1669-1671)tcA>tcG		solute carrier family 30 (zinc transporter), member 5		A		1,4405	2.1+/-5.4	0,1,2202	88.0	73.0	78.0		1671	-9.3	0.4	5	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	SLC30A5	NM_022902.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		557/766	68417622	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68417622A>G	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1671A>G	5.37:g.68417622A>G						CTC-498J12.3_ENST00000504129.1_RNA	p.S557S	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	13	2281	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	557			His-rich loop.		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.1671A>G	CCDS3996.1																																																																																				0.517	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			11	18	0	0	0	1	0	11	18				
OR5M3	219482	broad.mit.edu	37	11	56237236	56237236	+	Silent	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr11:56237236G>A	ENST00000312240.2	-	1	778	c.738C>T	c.(736-738)gtC>gtT	p.V246V		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGAATATAATGACAGCTGTCA	0.478																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(736-738)gtC>gtT		olfactory receptor, family 5, subfamily M, member 3							61.0	60.0	60.0					11																	56237236		2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237236G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.738C>T	11.37:g.56237236G>A							p.V246V	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	778	-	Esophageal squamous(21;0.00448)		246					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.738C>T	CCDS31532.1																																																																																				0.478	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		4	64	0	0	0	1	0	4	64				
MRPL41	64975	broad.mit.edu	37	9	140446550	140446550	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:140446550C>T	ENST00000371443.5	+	2	805	c.17C>T	c.(16-18)gCa>gTa	p.A6V	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	6					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GTCCTGGCCGCAGCGGCGCGC	0.796																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(16-18)gCa>gTa		mitochondrial ribosomal protein L41							7.0	10.0	9.0					9																	140446550		2122	4147	6269	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446550C>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.17C>T	9.37:g.140446550C>T	ENSP00000360498:p.Ala6Val						p.A6V	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	805	+	all_cancers(76;0.106)		6					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.17C>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	C	9.797	1.179579	0.21787	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.03	1.56	0.23342	.	0.445579	0.22773	U	0.055819	T	0.27594	0.0678	L	0.32530	0.975	0.09310	N	1	B	0.26002	0.139	B	0.22601	0.04	T	0.13845	-1.0494	9	0.31617	T	0.26	.	8.3079	0.32053	0.3593:0.3205:0.3202:0.0	.	6	Q8IXM3	RM41_HUMAN	V	6	.	ENSP00000360498:A6V	A	+	2	0	MRPL41	139566371	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	0.249000	0.18216	0.063000	0.16370	0.478000	0.44815	GCA		0.796	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		9	29	0	0	0	1	0	9	29				
LMTK3	114783	broad.mit.edu	37	19	49005719	49005719	+	Silent	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:49005719C>T	ENST00000600059.1	-	7	992	c.765G>A	c.(763-765)gcG>gcA	p.A255A	LMTK3_ENST00000270238.3_Silent_p.A284A			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AATGCAGGTGCGCCAGCCCGC	0.716																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(763-765)gcG>gcA		lemur tyrosine kinase 3							22.0	27.0	26.0					19																	49005719		1946	4129	6075	SO:0001819	synonymous_variant	114783							g.chr19:49005719C>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.765G>A	19.37:g.49005719C>T						LMTK3_ENST00000270238.3_Silent_p.A284A	p.A255A						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	7	992	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.765G>A																																																																																					0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		4	62	0	0	0	1	0	4	62				
LILRA3	11026	broad.mit.edu	37	19	54802035	54802035	+	Missense_Mutation	SNP	T	T	C	rs199563518	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:54802035T>C	ENST00000251390.3	-	6	1244	c.1153A>G	c.(1153-1155)Agt>Ggt	p.S385G	LILRA3_ENST00000391745.1_Missense_Mutation_p.S402G|LILRA3_ENST00000391744.3_Missense_Mutation_p.S321G	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	385	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCACAGGACTCATGGGGAAT	0.582													.|||	9	0.00179712	0.0	0.0	5008	,	,		11732	0.002		0.0	False		,,,				2504	0.0072					ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1204-1206)Agt>Ggt		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							127.0	114.0	118.0					19																	54802035		2193	4182	6375	SO:0001583	missense	0							g.chr19:54802035T>C	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1153A>G	19.37:g.54802035T>C	ENSP00000251390:p.Ser385Gly					LILRA3_ENST00000391744.3_Missense_Mutation_p.S321G|LILRA3_ENST00000251390.3_Missense_Mutation_p.S385G	p.S402G						GBM - Glioblastoma multiforme(193;0.105)	10	1520	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1204A>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	T	4.470	0.087030	0.08583	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.03889	3.77;3.77;3.77	3.07	-2.2	0.06994	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.539810	0.04082	N	0.309784	T	0.02571	0.0078	N	0.10782	0.045	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.09377	0.004;0.001	T	0.44283	-0.9338	10	0.18710	T	0.47	.	4.0078	0.09608	0.0:0.4092:0.2138:0.377	.	385;385	E7EU74;Q8N6C8	.;LIRA3_HUMAN	G	385;321;402	ENSP00000251390:S385G;ENSP00000375624:S321G;ENSP00000375625:S402G	ENSP00000251390:S385G	S	-	1	0	LILRA3	59493847	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.722000	0.01868	-0.276000	0.09206	0.482000	0.46254	AGT		0.582	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			4	110	0	0	0	1	0	4	110				
TRIP13	9319	broad.mit.edu	37	5	911973	911973	+	Silent	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr5:911973G>A	ENST00000166345.3	+	10	1238	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	294					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCAATGTTGTGATTCTGACCA	0.542																																						ENST00000166345.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(880-882)gtG>gtA		thyroid hormone receptor interactor 13							149.0	113.0	125.0					5																	911973		2203	4300	6503	SO:0001819	synonymous_variant	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:911973G>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.882G>A	5.37:g.911973G>A							p.V294V	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		10	1238	+			294					C9K0T3|D3DTC0|O15324	Silent	SNP	ENST00000166345.3	37	c.882G>A	CCDS3858.1																																																																																				0.542	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		5	77	0	0	0	1	0	5	77				
TJP3	27134	broad.mit.edu	37	19	3747863	3747863	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr19:3747863C>G	ENST00000541714.2	+	19	2856	c.2394C>G	c.(2392-2394)agC>agG	p.S798R	TJP3_ENST00000382008.3_Missense_Mutation_p.S812R|TJP3_ENST00000539908.2_Missense_Mutation_p.S762R|TJP3_ENST00000589378.1_Missense_Mutation_p.S807R|TJP3_ENST00000587686.1_Missense_Mutation_p.S817R|TJP3_ENST00000262968.9_Missense_Mutation_p.S831R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	798					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCTCAGCTGCGACAGCC	0.682																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2392-2394)agC>agG		tight junction protein 3							31.0	27.0	28.0					19																	3747863		2201	4297	6498	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3747863C>G	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2394C>G	19.37:g.3747863C>G	ENSP00000439278:p.Ser798Arg					TJP3_ENST00000587686.1_Missense_Mutation_p.S817R|TJP3_ENST00000539908.2_Missense_Mutation_p.S762R|TJP3_ENST00000589378.1_Missense_Mutation_p.S807R|TJP3_ENST00000382008.3_Missense_Mutation_p.S812R|TJP3_ENST00000262968.9_Missense_Mutation_p.S831R	p.S798R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2856	+			812					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.2394C>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291680	0.59976	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.14640	2.5;2.65;2.49;2.55	4.54	4.54	0.55810	.	0.066922	0.64402	D	0.000011	T	0.33876	0.0878	M	0.78637	2.42	0.48762	D	0.999702	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.976;0.991;0.946;0.976	T	0.08911	-1.0699	10	0.87932	D	0	.	7.6285	0.28226	0.0:0.7415:0.1673:0.0912	.	817;831;812;798	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	R	798;762;812;831	ENSP00000439278:S798R;ENSP00000439991:S762R;ENSP00000371438:S812R;ENSP00000262968:S831R	ENSP00000262968:S831R	S	+	3	2	TJP3	3698863	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.764000	0.55264	2.062000	0.61559	0.561000	0.74099	AGC		0.682	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			14	32	0	0	0	1	0	14	32				
ZDHHC23	254887	broad.mit.edu	37	3	113673157	113673157	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:113673157G>C	ENST00000330212.3	+	3	1071	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252Q	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	258					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAAAGCGAAGGAGGACTGGTG	0.582																																						ENST00000330212.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(772-774)Gag>Cag		zinc finger, DHHC-type containing 23							56.0	54.0	55.0					3																	113673157		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113673157G>C	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.772G>C	3.37:g.113673157G>C	ENSP00000330485:p.Glu258Gln					ZDHHC23_ENST00000498275.1_Missense_Mutation_p.E252Q	p.E258Q	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			3	1071	+			258					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.772G>C	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176552	0.38413	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.25250	1.81;1.81	5.74	5.74	0.90152	.	0.202304	0.52532	D	0.000068	T	0.14830	0.0358	N	0.17764	0.52	0.24208	N	0.995488	P	0.36392	0.551	B	0.36567	0.228	T	0.21759	-1.0236	10	0.15952	T	0.53	-12.2923	8.4204	0.32696	0.1647:0.0:0.8353:0.0	.	258	Q8IYP9	ZDH23_HUMAN	Q	258;252	ENSP00000330485:E258Q;ENSP00000417840:E252Q	ENSP00000330485:E258Q	E	+	1	0	ZDHHC23	115155847	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.242000	0.58714	2.716000	0.92895	0.561000	0.74099	GAG		0.582	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		10	38	0	0	0	1	0	10	38				
PSMC5	5705	broad.mit.edu	37	17	61907309	61907309	+	Splice_Site	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr17:61907309G>C	ENST00000310144.6	+	4	572	c.264G>C	c.(262-264)aaG>aaC	p.K88N	PSMC5_ENST00000580864.1_Splice_Site_p.K80N|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_Splice_Site_p.K80N|FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000375812.4_Splice_Site_p.K80N	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	88					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGTTGGTCAAGGTAAAAGCAG	0.557																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.e4+1		proteasome (prosome, macropain) 26S subunit, ATPase, 5							96.0	89.0	91.0					17																	61907309		2203	4300	6503	SO:0001630	splice_region_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61907309G>C	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.264+1G>C	17.37:g.61907309G>C						PSMC5_ENST00000581882.1_Splice_Site_p.K80_splice|PSMC5_ENST00000580864.1_Splice_Site_p.K80_splice|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000375812.4_Splice_Site_p.K80_splice	p.K88_splice	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			4	572	+			88					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	c.264_splice	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577426	0.65878	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.94576	-3.46;-3.45	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.94056	0.8095	M	0.63428	1.95	0.80722	D	1	B;B	0.31859	0.343;0.343	B;B	0.40134	0.32;0.32	D	0.93225	0.6612	10	0.54805	T	0.06	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	80;88	A8K3Z3;P62195	.;PRS8_HUMAN	N	88;80	ENSP00000310572:K88N;ENSP00000364970:K80N	ENSP00000310572:K88N	K	+	3	2	PSMC5	59261041	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.109000	0.94291	2.691000	0.91804	0.655000	0.94253	AAG		0.557	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	Missense_Mutation	13	51	0	0	0	1	0	13	51				
BMS1P20	96610	broad.mit.edu	37	22	22661362	22661362	+	RNA	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr22:22661362C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGGGCAACAGCGAGGGAAATG	0.502																																						ENST00000426066.1																			0																																																			0							g.chr22:22661362C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661362C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.502	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	66	0	0	0	1	0	4	66				
TEX15	56154	broad.mit.edu	37	8	30704985	30704985	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr8:30704985C>G	ENST00000256246.2	-	1	1623	c.1549G>C	c.(1549-1551)Gat>Cat	p.D517H	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	517					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCCTTTTCATCTATATTGCTG	0.313																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1549-1551)Gat>Cat		testis expressed 15							87.0	81.0	83.0					8																	30704985		2202	4294	6496	SO:0001583	missense	56154							g.chr8:30704985C>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1549G>C	8.37:g.30704985C>G	ENSP00000256246:p.Asp517His						p.D517H	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1623	-			517						Missense_Mutation	SNP	ENST00000256246.2	37	c.1549G>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125276	0.37533	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	5.61	3.7	0.42460	.	0.433866	0.21541	N	0.072882	T	0.14313	0.0346	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.61592	0.891	T	0.03576	-1.1023	10	0.87932	D	0	.	8.0609	0.30633	0.1572:0.7606:0.0:0.0822	.	517	Q9BXT5	TEX15_HUMAN	H	517	ENSP00000256246:D517H	ENSP00000256246:D517H	D	-	1	0	TEX15	30824527	0.003000	0.15002	0.019000	0.16419	0.170000	0.22686	0.973000	0.29422	1.516000	0.48900	0.650000	0.86243	GAT		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			13	30	0	0	0	1	0	13	30				
TCHP	84260	broad.mit.edu	37	12	110350871	110350871	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:110350871G>A	ENST00000312777.5	+	10	1342	c.1128G>A	c.(1126-1128)atG>atA	p.M376I	TCHP_ENST00000405876.4_Missense_Mutation_p.M376I	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						ACAGACTGATGAGCGAGGTAA	0.602																																						ENST00000312777.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						c.(1126-1128)atG>atA		trichoplein, keratin filament binding							70.0	59.0	63.0					12																	110350871		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110350871G>A	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1128G>A	12.37:g.110350871G>A	ENSP00000324404:p.Met376Ile					TCHP_ENST00000405876.4_Missense_Mutation_p.M376I	p.M376I	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN			10	1342	+			376			Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.			Missense_Mutation	SNP	ENST00000312777.5	37	c.1128G>A	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517235	0.64634	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.09630	2.96;2.96	5.09	5.09	0.68999	.	0.087222	0.85682	D	0.000000	T	0.35008	0.0917	M	0.80183	2.485	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.04400	-1.0954	10	0.33940	T	0.23	-20.4665	16.342	0.83084	0.0:0.0:1.0:0.0	.	376	Q9BT92	TCHP_HUMAN	I	376;376;20	ENSP00000384520:M376I;ENSP00000324404:M376I	ENSP00000324404:M376I	M	+	3	0	TCHP	108835254	1.000000	0.71417	0.982000	0.44146	0.082000	0.17680	7.152000	0.77419	2.503000	0.84419	0.650000	0.86243	ATG		0.602	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1	NM_032300		4	73	0	0	0	1	0	4	73				
MKLN1	4289	broad.mit.edu	37	7	131172392	131172392	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr7:131172392G>A	ENST00000352689.6	+	18	2153	c.2113G>A	c.(2113-2115)Gct>Act	p.A705T	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.A613T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	705					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCACACCTATGCTCAAAGAAC	0.408																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(2113-2115)Gct>Act		muskelin 1, intracellular mediator containing kelch motifs							104.0	96.0	98.0					7																	131172392		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131172392G>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.2113G>A	7.37:g.131172392G>A	ENSP00000323527:p.Ala705Thr					MKLN1_ENST00000421797.2_Missense_Mutation_p.A613T|MKLN1_ENST00000498778.1_3'UTR	p.A705T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			18	2153	+	Melanoma(18;0.162)		705					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.2113G>A	CCDS34754.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.179329|2.179329	0.38511|0.38511	.|.	.|.	ENSG00000128585|ENSG00000128585	ENST00000421797;ENST00000352689|ENST00000388758	T;T|.	0.44083|.	1.93;0.93|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.161396|.	0.56097|.	D|.	0.000037|.	T|T	0.45756|0.45756	0.1358|0.1358	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999996|0.999996	B;B|B	0.09022|0.06786	0.001;0.002|0.001	B;B|B	0.04013|0.01281	0.001;0.001|0.0	T|T	0.37337|0.37337	-0.9710|-0.9710	10|8	0.11794|0.72032	T|D	0.64|0.01	-12.4554|-12.4554	14.1529|14.1529	0.65398|0.65398	0.0:0.0:0.8503:0.1497|0.0:0.0:0.8503:0.1497	.|.	705;682|176	Q9UL63;B4DG30|F8W7E8	MKLN1_HUMAN;.|.	T|I	613;705|176	ENSP00000398094:A613T;ENSP00000323527:A705T|.	ENSP00000323527:A705T|ENSP00000373410:M176I	A|M	+|+	1|3	0|0	MKLN1|MKLN1	130822932|130822932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.844000|7.844000	0.86867|0.86867	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GCT|ATG		0.408	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		10	58	0	0	0	1	0	10	58				
CATSPER4	378807	broad.mit.edu	37	1	26527933	26527933	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:26527933G>C	ENST00000456354.2	+	9	1355	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	430					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGTCGTTGGAGACTACGTC	0.577																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(1288-1290)Gag>Cag		cation channel, sperm associated 4							112.0	99.0	103.0					1																	26527933		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527933G>C	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1288G>C	1.37:g.26527933G>C	ENSP00000390423:p.Glu430Gln						p.E430Q	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	9	1355	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	430					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.1288G>C	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960596	0.34565	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97598	-4.45;-4.4	5.09	3.17	0.36434	.	1.321840	0.05180	N	0.501187	D	0.94611	0.8263	L	0.44542	1.39	0.09310	N	1	B	0.21381	0.055	B	0.18263	0.021	D	0.85997	0.1492	10	0.48119	T	0.1	-0.7072	6.6304	0.22853	0.0995:0.1904:0.7101:0.0	.	430	Q7RTX7	CTSR4_HUMAN	Q	430	ENSP00000341006:E430Q;ENSP00000390423:E430Q	ENSP00000341006:E430Q	E	+	1	0	CATSPER4	26400520	0.040000	0.19996	0.000000	0.03702	0.193000	0.23685	2.873000	0.48475	0.531000	0.28639	0.306000	0.20318	GAG		0.577	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		8	97	0	0	0	1	0	8	97				
ZNF236	7776	broad.mit.edu	37	18	74667954	74667954	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr18:74667954C>G	ENST00000253159.8	+	28	5120	c.4922C>G	c.(4921-4923)tCt>tGt	p.S1641C	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1643C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1641					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCTGGCGTCTCTGGGAACCTG	0.592																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4921-4923)tCt>tGt		zinc finger protein 236							14.0	17.0	16.0					18																	74667954		1942	4141	6083	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74667954C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4922C>G	18.37:g.74667954C>G	ENSP00000253159:p.Ser1641Cys					ZNF236_ENST00000320610.9_Missense_Mutation_p.S1643C	p.S1641C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	28	5120	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1641					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4922C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670264	0.29693	.	.	ENSG00000130856	ENST00000253159	T	0.11495	2.77	5.56	4.69	0.59074	.	0.231760	0.37955	N	0.001874	T	0.10294	0.0252	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18745	-1.0327	10	0.72032	D	0.01	.	13.3384	0.60530	0.1577:0.8423:0.0:0.0	.	1641	Q9UL36	ZN236_HUMAN	C	1641	ENSP00000253159:S1641C	ENSP00000253159:S1641C	S	+	2	0	ZNF236	72796942	0.846000	0.29590	0.000000	0.03702	0.700000	0.40528	3.202000	0.51067	1.343000	0.45638	0.655000	0.94253	TCT		0.592	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			7	14	0	0	0	1	0	7	14				
TGIF2LX	90316	broad.mit.edu	37	X	89177590	89177590	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chrX:89177590G>C	ENST00000561129.2	+	1	636	c.506G>C	c.(505-507)aGa>aCa	p.R169T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R169T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAGATGTCAAGAGAGAAGCAA	0.587																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(505-507)aGa>aCa		TGFB-induced factor homeobox 2-like, X-linked							35.0	40.0	39.0					X																	89177590		2203	4296	6499	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177590G>C	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.506G>C	X.37:g.89177590G>C	ENSP00000453704:p.Arg169Thr					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R169T	p.R169T			Q8IUE1	TF2LX_HUMAN			1	636	+			169					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.506G>C	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	1.222	-0.626604	0.03610	.	.	ENSG00000153779	ENST00000283891	T	0.64438	-0.1	2.67	-0.0566	0.13805	.	.	.	.	.	T	0.43010	0.1228	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.21965	-1.0230	8	.	.	.	-3.9515	4.9274	0.13900	0.6446:0.0:0.3554:0.0	.	169	Q8IUE1	TF2LX_HUMAN	T	169	ENSP00000355119:R169T	.	R	+	2	0	TGIF2LX	89064246	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	-0.057000	0.11768	-0.136000	0.11475	0.506000	0.49869	AGA		0.587	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		3	50	0	0	0	1	0	3	50				
PDE12	201626	broad.mit.edu	37	3	57542553	57542553	+	Missense_Mutation	SNP	G	G	C	rs373475581		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:57542553G>C	ENST00000311180.8	+	1	550	c.447G>C	c.(445-447)caG>caC	p.Q149H	PDE12_ENST00000487257.1_Missense_Mutation_p.Q149H	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	149					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGGTGCTGCAGATCGGCGATG	0.622																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(445-447)caG>caC		phosphodiesterase 12							42.0	43.0	43.0					3																	57542553		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57542553G>C	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.447G>C	3.37:g.57542553G>C	ENSP00000309142:p.Gln149His					PDE12_ENST00000487257.1_Missense_Mutation_p.Q149H	p.Q149H	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	550	+			149					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.447G>C	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277004	0.59758	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.25414	1.8;1.85	5.61	4.72	0.59763	.	0.101834	0.64402	D	0.000002	T	0.46502	0.1396	M	0.65498	2.005	0.80722	D	1	D;P	0.69078	0.997;0.78	D;P	0.65987	0.94;0.563	T	0.34279	-0.9835	10	0.46703	T	0.11	-21.0201	14.4485	0.67370	0.0726:0.0:0.9274:0.0	.	149;149	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	H	149	ENSP00000420626:Q149H;ENSP00000309142:Q149H	ENSP00000309142:Q149H	Q	+	3	2	PDE12	57517593	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.900000	0.39828	2.636000	0.89361	0.455000	0.32223	CAG		0.622	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		4	54	0	0	0	1	0	4	54				
TSGA10	80705	broad.mit.edu	37	2	99697773	99697773	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr2:99697773C>G	ENST00000393483.3	-	11	1543	c.699G>C	c.(697-699)gaG>gaC	p.E233D	TSGA10_ENST00000539964.1_Missense_Mutation_p.E233D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E233D|TSGA10_ENST00000542655.1_Missense_Mutation_p.E233D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E233D|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	233					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACATAATTTTCTCCTGAGTAA	0.299																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(697-699)gaG>gaC		testis specific, 10							65.0	68.0	67.0					2																	99697773		2201	4293	6494	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99697773C>G	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.699G>C	2.37:g.99697773C>G	ENSP00000377123:p.Glu233Asp					TSGA10_ENST00000539964.1_Missense_Mutation_p.E233D|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.E233D|TSGA10_ENST00000410001.1_Missense_Mutation_p.E233D|TSGA10_ENST00000355053.4_Missense_Mutation_p.E233D	p.E233D	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			11	1543	-			233					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.699G>C	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844043	0.51164	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.0	5.0	0.66597	.	0.000000	0.56097	D	0.000037	T	0.42086	0.1187	L	0.41824	1.3	0.35104	D	0.765549	P;P	0.44139	0.827;0.728	B;B	0.43386	0.418;0.206	T	0.49790	-0.8902	10	0.26408	T	0.33	-13.9246	13.9813	0.64306	0.0:1.0:0.0:0.0	.	233;233	B7Z925;Q9BZW7	.;TSG10_HUMAN	D	233	ENSP00000377123:E233D;ENSP00000386956:E233D;ENSP00000347161:E233D;ENSP00000444419:E233D;ENSP00000386508:E233D;ENSP00000377122:E233D;ENSP00000445623:E233D	ENSP00000347161:E233D	E	-	3	2	TSGA10	99064205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.094000	0.41719	2.753000	0.94483	0.585000	0.79938	GAG		0.299	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		25	38	0	0	0	1	0	25	38				
MRPL41	64975	broad.mit.edu	37	9	140446549	140446549	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr9:140446549G>T	ENST00000371443.5	+	2	804	c.16G>T	c.(16-18)Gca>Tca	p.A6S	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank|PNPLA7_ENST00000406427.1_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	6					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CGTCCTGGCCGCAGCGGCGCG	0.796																																						ENST00000371443.5																			0				breast(1)|lung(1)	2						c.(16-18)Gca>Tca		mitochondrial ribosomal protein L41							7.0	10.0	9.0					9																	140446549		2122	4143	6265	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446549G>T	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.16G>T	9.37:g.140446549G>T	ENSP00000360498:p.Ala6Ser						p.A6S	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	804	+	all_cancers(76;0.106)		6					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.16G>T	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	G	4.975	0.181067	0.09443	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.03	3.19	0.36642	.	0.445579	0.22773	U	0.055819	T	0.20333	0.0489	L	0.32530	0.975	0.09310	N	1	B	0.26258	0.145	B	0.23852	0.049	T	0.26087	-1.0113	9	0.07644	T	0.81	.	5.3468	0.16014	0.2454:0.1474:0.6073:0.0	.	6	Q8IXM3	RM41_HUMAN	S	6	.	ENSP00000360498:A6S	A	+	1	0	MRPL41	139566370	0.001000	0.12720	0.003000	0.11579	0.043000	0.13939	1.047000	0.30367	0.544000	0.28883	0.478000	0.44815	GCA		0.796	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		9	27	1	0	0.000274275	1	0.000282225	9	27				
DDX54	79039	broad.mit.edu	37	12	113603644	113603644	+	Silent	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:113603644C>T	ENST00000306014.5	-	13	1635	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E	DDX54_ENST00000314045.7_Silent_p.E536E	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	536					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAGGTCCATCTCCTTGGCCC	0.662																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1606-1608)gaG>gaA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							42.0	41.0	41.0					12																	113603644		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113603644C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1608G>A	12.37:g.113603644C>T						DDX54_ENST00000306014.5_Silent_p.E536E	p.E536E	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			13	1635	-			536					Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.1608G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	9.740	1.164679	0.21538	.	.	ENSG00000123064	ENST00000546898	.	.	.	4.55	-2.36	0.06663	.	.	.	.	.	T	0.40619	0.1124	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30268	-0.9984	4	.	.	.	.	2.8642	0.05596	0.0995:0.361:0.1368:0.4027	.	.	.	.	N	12	.	.	D	-	1	0	DDX54	112088027	0.988000	0.35896	0.988000	0.46212	0.914000	0.54420	0.204000	0.17335	-0.316000	0.08690	0.561000	0.74099	GAT		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		15	32	0	0	0	1	0	15	32				
ZNF512B	57473	broad.mit.edu	37	20	62593668	62593668	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr20:62593668C>G	ENST00000450537.1	-	14	2283	c.2223G>C	c.(2221-2223)aaG>aaC	p.K741N	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K741N|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K741N			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	741					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCACTTCATTCTTCCATGCCT	0.622																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2221-2223)aaG>aaC		zinc finger protein 512B							116.0	108.0	110.0					20																	62593668		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62593668C>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2223G>C	20.37:g.62593668C>G	ENSP00000393795:p.Lys741Asn					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K741N|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K741N	p.K741N			Q96KM6	Z512B_HUMAN			14	2283	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		741					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2223G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811758	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.27104	1.69;1.69;1.69	5.48	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.65498	2.005	0.42739	D	0.993733	D	0.89917	1.0	D	0.83275	0.996	T	0.42224	-0.9464	10	0.87932	D	0	-24.8821	8.1769	0.31287	0.0:0.761:0.0:0.239	.	741	Q96KM6	Z512B_HUMAN	N	741	ENSP00000358904:K741N;ENSP00000393795:K741N;ENSP00000217130:K741N	ENSP00000217130:K741N	K	-	3	2	ZNF512B	62064112	1.000000	0.71417	0.986000	0.45419	0.904000	0.53231	0.923000	0.28757	1.311000	0.45024	0.557000	0.71058	AAG		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		5	129	0	0	0	1	0	5	129				
LRCH3	84859	broad.mit.edu	37	3	197598202	197598202	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:197598202G>C	ENST00000425562.2	+	19	1999	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	LRCH3_ENST00000334859.4_Missense_Mutation_p.E667Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E615Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E262Q|LRCH3_ENST00000438796.2_Missense_Mutation_p.E667Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E513Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	667	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCAGCATATTGAGTACCGGTT	0.373																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1999-2001)Gag>Cag		leucine-rich repeats and calponin homology (CH) domain containing 3							192.0	184.0	187.0					3																	197598202		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197598202G>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1999G>C	3.37:g.197598202G>C	ENSP00000393579:p.Glu667Gln					LRCH3_ENST00000425562.2_Missense_Mutation_p.E667Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E667Q|LRCH3_ENST00000536618.1_Missense_Mutation_p.E262Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E615Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E513Q	p.E667Q			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	19	2043	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		667			CH.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1999G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.164809|5.164809	0.94727|0.94727	.|.	.|.	ENSG00000186001|ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618;ENST00000452660;ENST00000433298|ENST00000428136	D;D;D;T;D;D;D;D|.	0.95272|.	-3.66;-3.66;-3.66;0.47;-3.66;-3.66;-3.66;-3.66|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Calponin homology domain (5);|.	0.063428|.	0.64402|.	D|.	0.000012|.	D|.	0.90335|.	0.6976|.	H|H	0.96691|0.96691	3.865|3.865	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	0.998;0.96;0.999;0.996;1.0|.	D;P;D;D;D|.	0.91635|.	0.986;0.849;0.975;0.967;0.999|.	D|.	0.92851|.	0.6297|.	10|.	0.87932|.	D|.	0|.	-9.1877|-9.1877	20.0965|20.0965	0.97849|0.97849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	513;615;667;667;667|.	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3|.	.;.;.;LRCH3_HUMAN;.|.	Q|S	667;513;615;667;667;262;142;104|44	ENSP00000399751:E667Q;ENSP00000394609:E513Q;ENSP00000394965:E615Q;ENSP00000334375:E667Q;ENSP00000393579:E667Q;ENSP00000439083:E262Q;ENSP00000395309:E142Q;ENSP00000400164:E104Q|.	ENSP00000334375:E667Q|.	E|X	+|+	1|2	0|2	LRCH3|LRCH3	199082599|199082599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.383000|9.383000	0.97214|0.97214	2.752000|2.752000	0.94435|0.94435	0.650000|0.650000	0.86243|0.86243	GAG|TGA		0.373	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		4	132	0	0	0	1	0	4	132				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	56	0	0	0	1	0	3	56				
ZNF778	197320	broad.mit.edu	37	16	89294617	89294617	+	Missense_Mutation	SNP	G	G	A	rs562846096	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr16:89294617G>A	ENST00000433976.2	+	6	2169	c.1837G>A	c.(1837-1839)Ggt>Agt	p.G613S	ZNF778_ENST00000306502.6_Missense_Mutation_p.G571S|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AACCCACACCGGTGAGAAACC	0.463													G|||	2	0.000399361	0.0008	0.0	5008	,	,		22306	0.0		0.0	False		,,,				2504	0.001					ENST00000433976.2																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1837-1839)Ggt>Agt		zinc finger protein 778							82.0	86.0	84.0					16																	89294617		2186	4295	6481	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294617G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1837G>A	16.37:g.89294617G>A	ENSP00000405289:p.Gly613Ser					ZNF778_ENST00000306502.6_Missense_Mutation_p.G571S|RP11-46C24.6_ENST00000563182.1_RNA	p.G613S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2169	+			613					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1837G>A	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306539	0.60305	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.25085	1.82;1.82	0.831	0.831	0.18860	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36853	0.0982	L	0.41356	1.27	0.29684	N	0.841444	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.22068	-1.0227	9	0.87932	D	0	.	7.5546	0.27817	0.0:0.0:1.0:0.0	.	571;613	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	S	613;571	ENSP00000405289:G613S;ENSP00000305203:G571S	ENSP00000305203:G571S	G	+	1	0	ZNF778	87822118	0.992000	0.36948	0.010000	0.14722	0.016000	0.09150	3.939000	0.56591	0.745000	0.32763	0.558000	0.71614	GGT		0.463	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	NM_182531		4	91	0	0	0	1	0	4	91				
C17orf97	400566	broad.mit.edu	37	17	263322	263322	+	Missense_Mutation	SNP	G	G	A	rs200728381		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr17:263322G>A	ENST00000360127.6	+	2	704	c.688G>A	c.(688-690)Gag>Aag	p.E230K	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	230	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.716																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(688-690)Gag>Aag		chromosome 17 open reading frame 97							5.0	11.0	9.0					17																	263322		1844	4005	5849	SO:0001583	missense	400566							g.chr17:263322G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.688G>A	17.37:g.263322G>A	ENSP00000353245:p.Glu230Lys					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.E230K	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	704	+			230			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.688G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	0.207	-1.039752	0.02013	.	.	ENSG00000187624	ENST00000360127	T	0.31510	1.49	0.588	-1.18	0.09617	.	.	.	.	.	T	0.10594	0.0259	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28618	-1.0038	9	0.08381	T	0.77	.	2.0705	0.03612	0.4855:0.0:0.2571:0.2574	.	230	Q6ZQX7-4	.	K	230	ENSP00000353245:E230K	ENSP00000353245:E230K	E	+	1	0	C17orf97	263668	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.444000	0.06854	-1.732000	0.01359	-1.098000	0.02139	GAG		0.716	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		4	29	0	0	0	1	0	4	29				
FAM86DP	692099	broad.mit.edu	37	3	75475607	75475607	+	RNA	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:75475607C>T	ENST00000459803.1	-	0	922					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TCACCTAGCTCGGTGGTGAAC	0.652																																						ENST00000459803.1																			0																																																			0							g.chr3:75475607C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475607C>T								NR_024241.1						0	922	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.652	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	129	0	0	0	1	0	4	129				
C12orf65	91574	broad.mit.edu	37	12	123738272	123738272	+	Silent	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:123738272C>T	ENST00000253233.1	+	2	695	c.51C>T	c.(49-51)tgC>tgT	p.C17C	RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000429587.2_Silent_p.C17C|C12orf65_ENST00000366329.2_Silent_p.C17C	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	17					cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		CCCGAATATGCCCGGCGCCAT	0.542																																						ENST00000253233.1																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(49-51)tgC>tgT		chromosome 12 open reading frame 65							85.0	82.0	83.0					12																	123738272		2203	4300	6503	SO:0001819	synonymous_variant	91574					mitochondrion	translation release factor activity	g.chr12:123738272C>T	AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.51C>T	12.37:g.123738272C>T						RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Silent_p.C17C|C12orf65_ENST00000429587.2_Silent_p.C17C	p.C17C	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)	2	695	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		17					Q8WUC6	Silent	SNP	ENST00000253233.1	37	c.51C>T	CCDS9244.1																																																																																				0.542	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401375.1	NM_152269		4	103	0	0	0	1	0	4	103				
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr1:186277190G>A	ENST00000445192.2	+	7	2384	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	PRG4_ENST00000367485.4_Missense_Mutation_p.G687E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGGGACTGCTCCA	0.607																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2338-2340)gGg>gAg		proteoglycan 4							175.0	197.0	190.0					1																	186277190		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277190G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2339G>A	1.37:g.186277190G>A	ENSP00000399679:p.Gly780Glu					PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E|PRG4_ENST00000367484.3_Intron	p.G780E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2384	+			780			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2339G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729726	0.03135	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04706	3.59;3.7;3.57;3.7	0.789	-1.58	0.08479	.	1.018730	0.07906	N	0.973555	T	0.01254	0.0041	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.47923	-0.9079	9	.	.	.	.	2.9532	0.05868	0.6619:0.0:0.3381:0.0	.	646;687;780;739	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	E	737;646;739;687;780	ENSP00000356456:G737E;ENSP00000356453:G739E;ENSP00000356455:G687E;ENSP00000399679:G780E	.	G	+	2	0	PRG4	184543813	0.001000	0.12720	0.004000	0.12327	0.008000	0.06430	-1.632000	0.02024	-0.199000	0.10317	-0.735000	0.03563	GGG		0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	248	0	0	0	1	0	5	248				
HLA-C	3107	broad.mit.edu	37	6	31239819	31239819	+	Silent	SNP	G	G	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr6:31239819G>T	ENST00000376228.5	-	1	44	c.30C>A	c.(28-30)ctC>ctA	p.L10L	HLA-C_ENST00000383329.3_Silent_p.L10L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	10			L -> I (in allele Cw*17:02).		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGAGCAGCAGGAGGAGGGCTC	0.697																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(28-30)ctC>ctA		major histocompatibility complex, class I, C							18.0	20.0	19.0					6																	31239819		1510	2709	4219	SO:0001819	synonymous_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239819G>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.30C>A	6.37:g.31239819G>T						HLA-C_ENST00000376228.5_Silent_p.L10L	p.L10L			Q9TNN7	1C05_HUMAN			1	44	-			10					O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	c.30C>A	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	-	6.377	0.437678	0.12104	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.71	-0.366	0.12545	.	.	.	.	.	T	0.26412	0.0645	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.18903	-1.0322	4	.	.	.	.	3.1228	0.06397	0.287:0.229:0.484:0.0	.	.	.	.	T	10	.	.	P	-	1	0	HLA-C	31347798	0.000000	0.05858	0.748000	0.31131	0.007000	0.05969	-0.453000	0.06778	-0.101000	0.12219	-0.680000	0.03767	CCT		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		8	14	1	0	1.33987e-11	1	1.39898e-11	8	14				
FAM86DP	692099	broad.mit.edu	37	3	75475600	75475600	+	RNA	SNP	C	C	G			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr3:75475600C>G	ENST00000459803.1	-	0	929					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGGGGGCTCACCTAGCTCGGT	0.642																																						ENST00000459803.1																			0																																																			0							g.chr3:75475600C>G	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475600C>G								NR_024241.1						0	929	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.642	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	128	0	0	0	1	0	4	128				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	214	0	0	0	1	0	5	214				
MTUS2	23281	broad.mit.edu	37	13	29600418	29600418	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr13:29600418C>T	ENST00000431530.3	+	1	1671	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	528						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGAGCAGATTCAGTTCTCAAT	0.473																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1612-1614)tCa>tTa		microtubule associated tumor suppressor candidate 2							94.0	98.0	97.0					13																	29600418		2023	4189	6212	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600418C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1613C>T	13.37:g.29600418C>T	ENSP00000392057:p.Ser538Leu						p.S538L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1671	+			528					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1613C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	14.18	2.458600	0.43634	.	.	ENSG00000132938	ENST00000431530	T	0.13901	2.55	5.07	1.24	0.21308	.	0.685472	0.13331	N	0.395923	T	0.10508	0.0257	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.32613	-0.9900	9	.	.	.	.	5.8528	0.18701	0.0:0.4952:0.1301:0.3747	.	528	Q5JR59	MTUS2_HUMAN	L	538	ENSP00000392057:S538L	.	S	+	2	0	MTUS2	28498418	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	1.953000	0.40352	0.426000	0.26116	-0.136000	0.14681	TCA		0.473	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		5	71	0	0	0	1	0	5	71				
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		7	6						7	6	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386																																						ENST00000521433.1																			0																																																			0							g.chr8:89498121_89498122insA																													8.37:g.89498131_89498131dupA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	INS	ENST00000521433.1	37																																																																																						0.386	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			3	4						3	4	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(130-132)ggc>GGCTGTGGCTCCggc	p.44_44G>GCGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCTGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCTGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCTGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCTGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			48	40						48	40	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		23	53						23	53	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650|rs11408894|rs535957758	byFrequency	TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		GACTCTTTTTTAAAAAAACAGG	0.45														60	0.0119808	0.0106	0.0072	5008	,	,		19441	0.0149		0.0219	False		,,,				2504	0.0041					ENST00000390453.1																			0																																																			0							g.chr14:22573825_22573826insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573832_22573832dupA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		7	13						7	13	---	---	---	---
BEGAIN	57596	broad.mit.edu	37	14	101004529	101004530	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr14:101004529_101004530insC	ENST00000355173.2	-	7	1629_1630	c.1558_1559insG	c.(1558-1560)gacfs	p.D520fs	BEGAIN_ENST00000556751.1_Frame_Shift_Ins_p.D456fs|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Frame_Shift_Ins_p.D520fs	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	520						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTGTCCCCGTCCCCCCCCTCG	0.733																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1366-1368)cggfs		brain-enriched guanylate kinase-associated																																				SO:0001589	frameshift_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101004529_101004530insC	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1559dupG	14.37:g.101004537_101004537dupC	ENSP00000347301:p.Asp520fs					BEGAIN_ENST00000355173.2_Frame_Shift_Ins_p.R520fs|BEGAIN_ENST00000443071.2_Frame_Shift_Ins_p.R520fs	p.R456fs			Q9BUH8	BEGIN_HUMAN			5	4770_4771	-		Melanoma(154;0.212)	520					Q9NPU3|Q9P282	Frame_Shift_Ins	INS	ENST00000355173.2	37	c.1366_1367insG	CCDS9962.1																																																																																				0.733	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		3	6						3	6	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	109						9	109	---	---	---	---
FAM106A	80039	broad.mit.edu	37	17	18431578	18431579	+	5'Flank	INS	-	-	T			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr17:18431578_18431579insT	ENST00000392176.3	-	0	0				CTD-2303H24.2_ENST00000425211.1_RNA			Q4KMX7	F106A_HUMAN	family with sequence similarity 106, member A																		TGACCTCGGGCTTTTTTTTTCT	0.441																																						ENST00000425211.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:18431578_18431579insT	AK021862		17p11.2	2013-01-17			ENSG00000213077	ENSG00000213077			25682	other	unknown						14702039	Standard	NR_026809		Approved	FLJ11800	uc002gtz.2	Q4KMX7	OTTHUMG00000179516		17.37:g.18431587_18431587dupT	Exception_encountered													0	1497	-								Q9HAD1	RNA	INS	ENST00000392176.3	37																																																																																						0.441	FAM106A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000446827.1	NR_026809		2	4						2	4	---	---	---	---
TTC25	83538	broad.mit.edu	37	17	40107001	40107001	+	RNA	DEL	T	T	-			TCGA-IM-A41Y-01A-11D-A23U-08	TCGA-IM-A41Y-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d038b3de-369a-4e8b-8533-bec87a61dedb	4f7e0b18-469e-4124-ae29-dc62d93bed92	g.chr17:40107001delT	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CACCAACGCCTTTGAATGAGG	0.522																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							64.0	58.0	60.0					17																	40107001		2011	4191	6202			83538					cytoplasm	protein binding	g.chr17:40107001delT	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40107001delT										Q96NG3	TTC25_HUMAN			0	1213	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	DEL	ENST00000591658.1	37																																																																																						0.522	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		2	4						2	4	---	---	---	---
