#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
AHDC1	27245	broad.mit.edu	37	1	27878461	27878461	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr1:27878461C>T	ENST00000247087.5	-	5	762	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	AHDC1_ENST00000374011.2_Missense_Mutation_p.A56T			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	56	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCGGAGAAGGCGTGGGTGGAG	0.756																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(166-168)Gcc>Acc		AT hook, DNA binding motif, containing 1							8.0	11.0	10.0					1																	27878461		2078	4076	6154	SO:0001583	missense	27245						DNA binding	g.chr1:27878461C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.166G>A	1.37:g.27878461C>T	ENSP00000247087:p.Ala56Thr					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A56T	p.A56T	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1134	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	56			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.166G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	4.825	0.153348	0.09185	.	.	ENSG00000126705	ENST00000247087;ENST00000374011;ENST00000407475	T;T	0.41065	1.01;1.01	4.08	0.533	0.17121	.	.	.	.	.	T	0.14442	0.0349	N	0.03608	-0.345	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	9	0.02654	T	1	-5.7182	5.5913	0.17303	0.0:0.412:0.0:0.588	.	56	Q5TGY3	AHDC1_HUMAN	T	56	ENSP00000247087:A56T;ENSP00000363123:A56T	ENSP00000247087:A56T	A	-	1	0	AHDC1	27751048	0.997000	0.39634	0.994000	0.49952	0.961000	0.63080	0.808000	0.27154	0.065000	0.16485	0.305000	0.20034	GCC		0.756	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			9	21	0	0	0	0.335167	0	9	21				
CSK	1445	broad.mit.edu	37	15	75091169	75091169	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr15:75091169C>A	ENST00000220003.9	+	4	861	c.132C>A	c.(130-132)gaC>gaA	p.D44E	CSK_ENST00000309470.9_Missense_Mutation_p.D44E|CSK_ENST00000439220.2_Missense_Mutation_p.D44E|CSK_ENST00000567571.1_Missense_Mutation_p.D44E	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	44	Interaction with PTPN8. {ECO:0000250}.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CTCCCCAGGACCCCAACTGGT	0.627																																						ENST00000220003.9																			0				central_nervous_system(1)|lung(2)	3						c.(130-132)gaC>gaA		c-src tyrosine kinase							81.0	67.0	72.0					15																	75091169		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75091169C>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.132C>A	15.37:g.75091169C>A	ENSP00000220003:p.Asp44Glu					CSK_ENST00000309470.9_Missense_Mutation_p.D44E|CSK_ENST00000439220.2_Missense_Mutation_p.D44E|CSK_ENST00000567571.1_Missense_Mutation_p.D44E	p.D44E	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN			4	861	+			44			Interaction with PTPN8 (By similarity).|SH3.		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.132C>A	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469567	0.63625	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.20881	2.04;2.04;2.04	4.07	3.15	0.36227	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.64080	1.96	0.54753	D	0.999985	D	0.63880	0.993	P	0.61874	0.895	T	0.44360	-0.9333	10	0.05525	T	0.97	-32.6206	7.0645	0.25143	0.0:0.6505:0.0:0.3495	.	44	P41240	CSK_HUMAN	E	44	ENSP00000220003:D44E;ENSP00000414764:D44E;ENSP00000438808:D44E	ENSP00000220003:D44E	D	+	3	2	CSK	72878222	0.999000	0.42202	1.000000	0.80357	0.826000	0.46750	0.572000	0.23684	0.938000	0.37419	0.313000	0.20887	GAC		0.627	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		8	61	1	0	3.86212e-05	0.361761	4.72037e-05	8	61				
TTN	7273	broad.mit.edu	37	2	179458701	179458701	+	Missense_Mutation	SNP	T	T	G	rs186563991	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr2:179458701T>G	ENST00000591111.1	-	247	53720	c.53496A>C	c.(53494-53496)caA>caC	p.Q17832H	TTN_ENST00000359218.5_Missense_Mutation_p.Q10533H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q19473H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q10600H|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q16905H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q10408H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17832	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACATTAACTTGACAGAAAC	0.368																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(58417-58419)caA>caC		titin							168.0	163.0	164.0					2																	179458701		1939	4138	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458701T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53496A>C	2.37:g.179458701T>G	ENSP00000465570:p.Gln17832His					TTN_ENST00000460472.2_Missense_Mutation_p.Q10408H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q17832H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q16905H|TTN_ENST00000342175.6_Missense_Mutation_p.Q10600H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q10533H|TTN-AS1_ENST00000456053.1_RNA	p.Q19473H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	58643	-			17832			Fibronectin type-III 41.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58419A>C		.	.	.	.	.	.	.	.	.	.	T	12.39	1.922399	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.17	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66597	0.2805	L	0.29908	0.895	0.30166	N	0.801725	P;P;P;P	0.49696	0.927;0.927;0.927;0.927	P;P;P;P	0.55161	0.77;0.77;0.77;0.77	T	0.65586	-0.6132	9	0.87932	D	0	.	11.1205	0.48287	0.0:0.1272:0.0:0.8728	.	10408;10533;10600;17832	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16905;10408;10600;10533;10406	ENSP00000343764:Q16905H;ENSP00000434586:Q10408H;ENSP00000340554:Q10600H;ENSP00000352154:Q10533H	ENSP00000340554:Q10600H	Q	-	3	2	TTN	179166947	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.257000	0.43240	1.111000	0.41721	0.533000	0.62120	CAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		81	213	0	0	0	0.870114	0	81	213				
TXNDC11	51061	broad.mit.edu	37	16	11829975	11829975	+	Silent	SNP	C	C	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr16:11829975C>A	ENST00000356957.3	-	2	476	c.369G>T	c.(367-369)cgG>cgT	p.R123R	TXNDC11_ENST00000283033.5_Silent_p.R123R			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	123	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTCTGAATCCCGTCGAACGT	0.522																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(367-369)cgG>cgT		thioredoxin domain containing 11							159.0	120.0	133.0					16																	11829975		2197	4300	6497	SO:0001819	synonymous_variant	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11829975C>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.369G>T	16.37:g.11829975C>A						TXNDC11_ENST00000283033.5_Silent_p.R123R	p.R123R			Q6PKC3	TXD11_HUMAN			2	476	-			123			Thioredoxin 1.		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37	c.369G>T																																																																																					0.522	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		31	92	1	0	5.90632e-09	0.760397	7.49649e-09	31	92				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	53	0	0	0	0.184627	0	5	53				
CATSPERB	79820	broad.mit.edu	37	14	92126293	92126293	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr14:92126293A>C	ENST00000256343.3	-	15	1476	c.1320T>G	c.(1318-1320)ttT>ttG	p.F440L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	440					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTATTAATTGAAAGGTGTTGC	0.353																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1318-1320)ttT>ttG		catsper channel auxiliary subunit beta							79.0	80.0	79.0					14																	92126293		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92126293A>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1320T>G	14.37:g.92126293A>C	ENSP00000256343:p.Phe440Leu						p.F440L	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			15	1476	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	440					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.1320T>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562959	0.27915	.	.	ENSG00000133962	ENST00000256343	T	0.68181	-0.31	4.76	2.33	0.28932	.	0.000000	0.53938	D	0.000045	T	0.74145	0.3678	L	0.58101	1.795	0.28412	N	0.918143	D	0.76494	0.999	D	0.83275	0.996	T	0.65841	-0.6070	10	0.72032	D	0.01	-25.2593	6.6907	0.23169	0.8029:0.0:0.1971:0.0	.	440	Q9H7T0	CTSRB_HUMAN	L	440	ENSP00000256343:F440L	ENSP00000256343:F440L	F	-	3	2	CATSPERB	91196046	0.182000	0.23173	0.285000	0.24819	0.225000	0.24961	0.360000	0.20250	0.254000	0.21573	0.454000	0.30748	TTT		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		68	175	0	0	0	0.870114	0	68	175				
CHD2	1106	broad.mit.edu	37	15	93524619	93524619	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr15:93524619C>T	ENST00000394196.4	+	24	4066	c.2998C>T	c.(2998-3000)Cgg>Tgg	p.R1000W	CHD2_ENST00000557381.1_Missense_Mutation_p.R1000W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1000	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGAAATTTTGCGGTTGGCTGA	0.383																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2998-3000)Cgg>Tgg		chromodomain helicase DNA binding protein 2							135.0	130.0	132.0					15																	93524619		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93524619C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2998C>T	15.37:g.93524619C>T	ENSP00000377747:p.Arg1000Trp					CHD2_ENST00000557381.1_Missense_Mutation_p.R1000W	p.R1000W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		24	4066	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1000			Glu-rich.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2998C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225357	0.58668	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02606	4.23;4.23	4.87	3.95	0.45737	.	0.000000	0.33364	U	0.004984	T	0.15046	0.0363	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.74023	0.957;0.982	T	0.00950	-1.1503	10	0.87932	D	0	-14.7658	15.525	0.75898	0.0:0.8613:0.1387:0.0	.	1000;1000	O14647;O14647-2	CHD2_HUMAN;.	W	1000	ENSP00000377747:R1000W;ENSP00000451366:R1000W	ENSP00000377747:R1000W	R	+	1	2	CHD2	91325623	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	5.627000	0.67784	1.165000	0.42670	-0.165000	0.13383	CGG		0.383	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	102	0	0	0	0.184627	0	4	102				
HEATR5B	54497	broad.mit.edu	37	2	37227889	37227889	+	Silent	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr2:37227889C>T	ENST00000233099.5	-	33	5480	c.5385G>A	c.(5383-5385)aaG>aaA	p.K1795K	HEATR5B_ENST00000354531.2_Silent_p.K1706K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1795						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TATCTGCAGACTTTATTGCTG	0.398																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5383-5385)aaG>aaA		HEAT repeat containing 5B							119.0	128.0	125.0					2																	37227889		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37227889C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5385G>A	2.37:g.37227889C>T						HEATR5B_ENST00000354531.2_Silent_p.K1706K	p.K1795K	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			33	5480	-		all_hematologic(82;0.21)	1795					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5385G>A	CCDS33181.1																																																																																				0.398	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		52	128	0	0	0	0.870114	0	52	128				
ECHDC2	55268	broad.mit.edu	37	1	53373542	53373542	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr1:53373542A>G	ENST00000371522.4	-	4	455	c.362T>C	c.(361-363)aTc>aCc	p.I121T	ECHDC2_ENST00000541281.1_Missense_Mutation_p.I75T|ECHDC2_ENST00000358358.5_Missense_Mutation_p.I121T|ECHDC2_ENST00000536120.1_Missense_Mutation_p.I75T	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	121					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATCCTCACCGATGTCATTCAT	0.607																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(223-225)aTc>aCc		enoyl CoA hydratase domain containing 2							83.0	77.0	79.0					1																	53373542		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53373542A>G	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.362T>C	1.37:g.53373542A>G	ENSP00000360577:p.Ile121Thr					ECHDC2_ENST00000371522.4_Missense_Mutation_p.I121T|ECHDC2_ENST00000358358.5_Missense_Mutation_p.I121T|ECHDC2_ENST00000541281.1_Missense_Mutation_p.I75T	p.I75T			Q86YB7	ECHD2_HUMAN			7	1041	-			121					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.224T>C	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	a	13.18	2.159008	0.38119	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120;ENST00000467988;ENST00000541281	T;T;T;T;T	0.79554	-0.6;-1.28;-0.6;-1.28;-0.6	5.19	5.19	0.71726	Crotonase, core (1);	0.154274	0.56097	D	0.000023	D	0.88588	0.6477	M	0.73372	2.23	0.51482	D	0.999924	D;B;B	0.89917	1.0;0.221;0.088	D;B;B	0.97110	1.0;0.155;0.071	D	0.89888	0.4035	10	0.87932	D	0	.	14.3737	0.66860	1.0:0.0:0.0:0.0	.	75;121;121	B4DSN9;Q86YB7;Q86YB7-2	.;ECHD2_HUMAN;.	T	121;121;75;121;75	ENSP00000360577:I121T;ENSP00000351125:I121T;ENSP00000439264:I75T;ENSP00000441962:I121T;ENSP00000445358:I75T	ENSP00000351125:I121T	I	-	2	0	ECHDC2	53146130	1.000000	0.71417	0.988000	0.46212	0.163000	0.22366	7.813000	0.86123	2.087000	0.62958	0.450000	0.29827	ATC		0.607	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		4	57	0	0	0	0.184627	0	4	57				
STRN4	29888	broad.mit.edu	37	19	47234130	47234130	+	Splice_Site	SNP	C	C	T	rs576731281	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr19:47234130C>T	ENST00000263280.6	-	6	787	c.738G>A	c.(736-738)agG>agA	p.R246R	STRN4_ENST00000539396.1_Splice_Site_p.R127R|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000391910.3_Splice_Site_p.R246R	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	246						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGCCGCGTTCCTGCCAAAGA	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		21578	0.002		0.0	False		,,,				2504	0.0					ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.e6-1		striatin, calmodulin binding protein 4							115.0	94.0	101.0					19																	47234130		2203	4300	6503	SO:0001630	splice_region_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47234130C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.738-1G>A	19.37:g.47234130C>T						STRN4_ENST00000263280.6_Splice_Site_p.R246_splice|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Splice_Site_p.R127_splice	p.R246_splice			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	6	1188	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	246					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Splice_Site	SNP	ENST00000263280.6	37	c.737_splice	CCDS12690.1																																																																																				0.622	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		Silent	11	116	0	0	0	0.387290	0	11	116				
KAT6A	7994	broad.mit.edu	37	8	41801275	41801275	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr8:41801275C>A	ENST00000396930.3	-	14	2762	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	KAT6A_ENST00000265713.2_Missense_Mutation_p.R740L|KAT6A_ENST00000485568.1_Missense_Mutation_p.R740L|KAT6A_ENST00000406337.1_Missense_Mutation_p.R740L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	740	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGGTCACTACGGAAGTCCAG	0.403																																						ENST00000396930.3																			0											c.(2218-2220)cGt>cTt		K(lysine) acetyltransferase 6A							169.0	141.0	150.0					8																	41801275		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41801275C>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2219G>T	8.37:g.41801275C>A	ENSP00000380136:p.Arg740Leu					KAT6A_ENST00000406337.1_Missense_Mutation_p.R740L|KAT6A_ENST00000265713.2_Missense_Mutation_p.R740L|KAT6A_ENST00000485568.1_Missense_Mutation_p.R740L	p.R740L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			14	2762	-			740			Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.2219G>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956755	0.53293	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84298	0.18;0.18;0.18;-1.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	L	0.55103	1.725	0.58432	D	0.999995	P;D	0.71674	0.895;0.998	P;D	0.68621	0.65;0.959	D	0.90265	0.4303	10	0.54805	T	0.06	-18.4344	20.1577	0.98120	0.0:1.0:0.0:0.0	.	740;740	A5PLL3;Q92794	.;KAT6A_HUMAN	L	740;740;740;320;740	ENSP00000265713:R740L;ENSP00000385888:R740L;ENSP00000380136:R740L;ENSP00000430606:R740L	ENSP00000265713:R740L	R	-	2	0	KAT6A	41920432	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	4.471000	0.60182	2.767000	0.95098	0.655000	0.94253	CGT		0.403	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		29	74	1	0	1.80694e-10	0.740014	2.38517e-10	29	74				
OR1E1	8387	broad.mit.edu	37	17	3301331	3301331	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr17:3301331G>T	ENST00000322608.2	-	1	373	c.374C>A	c.(373-375)gCc>gAc	p.A125D		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	125					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						GAAGCAGATGGCCACATAGCG	0.572																																						ENST00000322608.2																			0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(373-375)gCc>gAc		olfactory receptor, family 1, subfamily E, member 1							104.0	82.0	90.0					17																	3301331		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301331G>T	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.374C>A	17.37:g.3301331G>T	ENSP00000313384:p.Ala125Asp						p.A125D	NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN			1	373	-			125					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.374C>A	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666390	0.88251	.	.	ENSG00000180016	ENST00000322608	T	0.01234	5.13	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.19846	0.0477	H	0.99454	4.575	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.49072	-0.8977	10	0.87932	D	0	.	16.3395	0.83078	0.0:0.0:1.0:0.0	.	125	P30953	OR1E1_HUMAN	D	125	ENSP00000313384:A125D	ENSP00000313384:A125D	A	-	2	0	OR1E1	3248081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.298000	0.96132	2.449000	0.82847	0.591000	0.81541	GCC		0.572	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		4	100	1	0	0.150653	0.150653	0.160373	4	100				
ASAH2	56624	broad.mit.edu	37	10	51974612	51974612	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr10:51974612G>C	ENST00000395526.4	-	8	1030	c.1031C>G	c.(1030-1032)gCc>gGc	p.A344G	ASAH2_ENST00000329428.6_Missense_Mutation_p.A325G|ASAH2_ENST00000447815.1_Missense_Mutation_p.A344G|ASAH2_ENST00000443575.1_Missense_Mutation_p.A186G	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	344					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGAAGCAAAGGCTGCTACAAA	0.433																																						ENST00000395526.3																			0				large_intestine(1)|lung(9)|urinary_tract(1)	11						c.(1030-1032)gCc>gGc		N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2							95.0	72.0	80.0					10																	51974612		2202	4294	6496	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:51974612G>C	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.1031C>G	10.37:g.51974612G>C	ENSP00000378897:p.Ala344Gly					ASAH2_ENST00000443575.1_Missense_Mutation_p.A186G|ASAH2_ENST00000447815.1_Missense_Mutation_p.A344G|ASAH2_ENST00000329428.6_Missense_Mutation_p.A325G	p.A344G	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN			8	1030	-			344					Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.1031C>G	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108535	0.37242	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000443575;ENST00000329428	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.26	4.34	0.51931	.	0.112663	0.64402	N	0.000015	T	0.40015	0.1100	N	0.25380	0.74	0.34067	D	0.657984	B;B	0.22003	0.063;0.039	B;B	0.25140	0.054;0.058	T	0.47611	-0.9104	10	0.25106	T	0.35	.	13.2915	0.60274	0.0:0.1669:0.8331:0.0	.	344;344	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	G	344;344;186;325	ENSP00000378897:A344G;ENSP00000388206:A344G;ENSP00000392766:A186G;ENSP00000329886:A325G	ENSP00000329886:A325G	A	-	2	0	ASAH2	51644618	1.000000	0.71417	0.992000	0.48379	0.920000	0.55202	3.497000	0.53295	1.180000	0.42898	0.455000	0.32223	GCC		0.433	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		43	76	0	0	0	0.864702	0	43	76				
GNA12	2768	broad.mit.edu	37	7	2770999	2770999	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr7:2770999G>T	ENST00000275364.3	-	4	1124	c.962C>A	c.(961-963)cCg>cAg	p.P321Q	GNA12_ENST00000544127.1_Missense_Mutation_p.P228Q|GNA12_ENST00000407653.1_Missense_Mutation_p.P245Q|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.P262Q|GNA12_ENST00000396960.3_Missense_Mutation_p.P173Q|AMZ1_ENST00000489665.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	321					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CAGCCTGTGCGGGTCGCCCCT	0.582																																						ENST00000275364.3																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(961-963)cCg>cAg		guanine nucleotide binding protein (G protein) alpha 12							106.0	90.0	95.0					7																	2770999		2203	4300	6503	SO:0001583	missense	2768				G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:2770999G>T	L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.962C>A	7.37:g.2770999G>T	ENSP00000275364:p.Pro321Gln					GNA12_ENST00000407653.1_Missense_Mutation_p.P245Q|GNA12_ENST00000407904.3_Missense_Mutation_p.P262Q|GNA12_ENST00000396960.3_Missense_Mutation_p.P173Q|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000544127.1_Missense_Mutation_p.P228Q	p.P321Q	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)	4	1124	-		Ovarian(82;0.0112)	321					A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Missense_Mutation	SNP	ENST00000275364.3	37	c.962C>A	CCDS5335.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015367	0.35511	.	.	ENSG00000146535	ENST00000275364;ENST00000407904;ENST00000407653;ENST00000396960;ENST00000544127	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.93	3.18	0.36537	.	0.000000	0.85682	D	0.000000	D	0.91546	0.7330	M	0.67517	2.055	0.80722	D	1	P;D;P	0.71674	0.525;0.998;0.525	B;D;B	0.70487	0.143;0.969;0.143	D	0.87780	0.2611	10	0.25751	T	0.34	.	8.7782	0.34776	0.1283:0.0:0.7478:0.1239	.	321;321;262	Q5PPR5;Q03113;B3KXS2	.;GNA12_HUMAN;.	Q	321;262;245;173;228	ENSP00000275364:P321Q;ENSP00000385935:P262Q;ENSP00000386054:P245Q;ENSP00000380160:P173Q;ENSP00000437469:P228Q	ENSP00000275364:P321Q	P	-	2	0	GNA12	2737525	1.000000	0.71417	0.779000	0.31741	0.258000	0.26162	9.742000	0.98846	0.426000	0.26116	-0.181000	0.13052	CCG		0.582	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241608.1	NM_007353		3	75	1	0	0.00909568	0.150653	0.0100052	3	75				
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr1:17085189A>G	ENST00000455405.2	-	0	87							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.S428P(1)	kidney(1)																																																11223							g.chr1:17085189A>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085189A>G														0	87	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.85	1.762304	0.31228	.	.	ENSG00000186715	ENST00000389184	.	.	.	.	.	.	.	.	.	.	.	T	0.41373	0.1156	.	.	.	.	.	.	.	.	.	.	.	.	T	0.49133	-0.8971	2	0.35671	T	0.21	.	.	.	.	.	.	.	.	P	428	.	ENSP00000445850:S428P	S	-	1	0	MST1P9	16957776	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	-1.003000	0.03682	0.000000	0.14550	0.000000	0.15137	TCA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	70	0	0	0	0.150653	0	3	70				
FAM217B	63939	broad.mit.edu	37	20	58520018	58520018	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr20:58520018G>T	ENST00000358293.3	+	5	1435	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Missense_Mutation_p.K340N	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	340																	ATTCCTGTAAGGCCTCCAAAA	0.493																																						ENST00000358293.3																			0											c.(1018-1020)aaG>aaT		family with sequence similarity 217, member B							74.0	77.0	76.0					20																	58520018		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58520018G>T	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1020G>T	20.37:g.58520018G>T	ENSP00000351040:p.Lys340Asn					FAM217B_ENST00000360816.3_Missense_Mutation_p.K340N|FAM217B_ENST00000469084.1_3'UTR	p.K340N	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1435	+			340					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.1020G>T	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681773	0.29872	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.38560	1.13;1.13	5.35	4.4	0.53042	.	0.830066	0.10487	N	0.668863	T	0.48978	0.1530	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.59487	0.858	T	0.38112	-0.9676	10	0.62326	D	0.03	-7.097	11.2304	0.48910	0.2243:0.0:0.7757:0.0	.	340	Q9NTX9	CT177_HUMAN	N	340	ENSP00000351040:K340N;ENSP00000354056:K340N	ENSP00000351040:K340N	K	+	3	2	C20orf177	57953413	0.220000	0.23631	0.001000	0.08648	0.001000	0.01503	1.904000	0.39868	0.644000	0.30656	-1.094000	0.02160	AAG		0.493	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		4	87	1	0	0.000602214	0.184627	0.000685278	4	87				
CCDC114	93233	broad.mit.edu	37	19	48807247	48807247	+	Silent	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr19:48807247C>T	ENST00000315396.7	-	7	1387	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	235					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGGGATCCGGCTGCCGGTCGT	0.642																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(703-705)caG>caA		coiled-coil domain containing 114							83.0	82.0	82.0					19																	48807247		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48807247C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.705G>A	19.37:g.48807247C>T							p.Q235Q	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	7	1387	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	235					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.705G>A	CCDS12714.2																																																																																				0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		58	105	0	0	0	0.870114	0	58	105				
AGPAT9	84803	broad.mit.edu	37	4	84502830	84502830	+	Silent	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:84502830A>G	ENST00000395226.2	+	4	542	c.324A>G	c.(322-324)gtA>gtG	p.V108V	AGPAT9_ENST00000264409.4_Silent_p.V108V	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	108					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AAGCCATTGTAGAAGATGAAG	0.463																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(322-324)gtA>gtG		1-acylglycerol-3-phosphate O-acyltransferase 9							181.0	176.0	178.0					4																	84502830		2203	4300	6503	SO:0001819	synonymous_variant	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84502830A>G	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.324A>G	4.37:g.84502830A>G						AGPAT9_ENST00000264409.4_Silent_p.V108V	p.V108V	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			4	542	+		Hepatocellular(203;0.114)	108					Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	ENST00000395226.2	37	c.324A>G	CCDS3606.1																																																																																				0.463	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		89	196	0	0	0	0.870114	0	89	196				
TACR3	6870	broad.mit.edu	37	4	104512715	104512715	+	Silent	SNP	G	G	A			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:104512715G>A	ENST00000304883.2	-	4	1154	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	338					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGCTAGCCAGGTAGACCTGCT	0.398																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1012-1014)taC>taT		tachykinin receptor 3							160.0	154.0	156.0					4																	104512715		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104512715G>A	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1014C>T	4.37:g.104512715G>A						RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.Y338Y	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	4	1154	-		Hepatocellular(203;0.217)	338					Q0P510	Silent	SNP	ENST00000304883.2	37	c.1014C>T	CCDS3664.1																																																																																				0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		62	153	0	0	0	0.870114	0	62	153				
OTOA	146183	broad.mit.edu	37	16	21698935	21698935	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr16:21698935C>T	ENST00000286149.4	+	7	602	c.601C>T	c.(601-603)Cct>Tct	p.P201S	OTOA_ENST00000388956.4_Missense_Mutation_p.P122S|OTOA_ENST00000388958.3_Missense_Mutation_p.P201S			Q7RTW8	OTOAN_HUMAN	otoancorin	201					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGAGCGGCTCCCTCGGGACCT	0.532																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(601-603)Cct>Tct		otoancorin							40.0	38.0	39.0					16																	21698935		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698935C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.601C>T	16.37:g.21698935C>T	ENSP00000286149:p.Pro201Ser					OTOA_ENST00000388956.4_Missense_Mutation_p.P122S|OTOA_ENST00000286149.4_Missense_Mutation_p.P201S	p.P201S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	602	+			201					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.601C>T		.	.	.	.	.	.	.	.	.	.	C	14.44	2.535648	0.45176	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12039	2.72;2.72;2.72	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.35422	0.0931	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.13019	-1.0525	10	0.66056	D	0.02	-17.2661	14.6995	0.69147	0.0:1.0:0.0:0.0	.	122;201	B3KWU3;E9PF51	.;.	S	201;201;122	ENSP00000373610:P201S;ENSP00000286149:P201S;ENSP00000373608:P122S	ENSP00000286149:P201S	P	+	1	0	OTOA	21606436	1.000000	0.71417	0.352000	0.25734	0.153000	0.21895	5.332000	0.65911	2.041000	0.60428	0.552000	0.68991	CCT		0.532	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			24	51	0	0	0	0.624587	0	24	51				
YIPF7	285525	broad.mit.edu	37	4	44631452	44631452	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:44631452A>G	ENST00000332990.5	-	4	482	c.466T>C	c.(466-468)Ttt>Ctt	p.F156L	YIPF7_ENST00000415895.4_Missense_Mutation_p.F132L	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	156						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						GCTACGCAAAAAAGAATGGGT	0.443																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(466-468)Ttt>Ctt		Yip1 domain family, member 7							75.0	84.0	81.0					4																	44631452		1915	4121	6036	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44631452A>G	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.466T>C	4.37:g.44631452A>G	ENSP00000332772:p.Phe156Leu						p.F156L	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			4	482	-			156					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.466T>C	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.599295|4.599295	0.87055|0.87055	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000332990|ENST00000415895	T|.	0.39592|.	1.07|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Yip1 domain (1);|.	0.109676|0.109676	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.72244|0.72244	0.3436|0.3436	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P|.	0.51351|.	0.944|.	P|.	0.61070|.	0.883|.	T|T	0.71915|0.71915	-0.4448|-0.4448	10|6	0.30078|.	T|.	0.28|.	-15.641|-15.641	14.8413|14.8413	0.70226|0.70226	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156|.	Q8N8F6|.	YIPF7_HUMAN|.	L|S	156|132	ENSP00000332772:F156L|.	ENSP00000332772:F156L|.	F|F	-|-	1|2	0|0	YIPF7|YIPF7	44326209|44326209	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.518000|0.518000	0.34316|0.34316	9.077000|9.077000	0.94016|0.94016	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	TTT|TTT		0.443	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		6	23	0	0	0	0.278610	0	6	23				
KCNB1	3745	broad.mit.edu	37	20	47991026	47991026	+	Silent	SNP	G	G	A	rs199964916	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr20:47991026G>A	ENST00000371741.4	-	2	1237	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	357					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.D357D(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	ACTTGGTGTCGTCCTCATCCT	0.517													g|||	2	0.000399361	0.0	0.0	5008	,	,		20382	0.002		0.0	False		,,,				2504	0.0					ENST00000371741.4																			1	Substitution - coding silent(1)	p.D357D(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1069-1071)gaC>gaT		potassium voltage-gated channel, Shab-related subfamily, member 1							55.0	55.0	55.0					20																	47991026		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991026G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1071C>T	20.37:g.47991026G>A							p.D357D	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1237	-			357					Q14193	Silent	SNP	ENST00000371741.4	37	c.1071C>T	CCDS13418.1																																																																																				0.517	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		5	65	0	0	0	0.184627	0	5	65				
OCLN	100506658	broad.mit.edu	37	5	68840911	68840911	+	Silent	SNP	C	C	G			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr5:68840911C>G	ENST00000355237.2	+	6	1654	c.1218C>G	c.(1216-1218)ggC>ggG	p.G406G	OCLN_ENST00000538151.1_Silent_p.G155G|OCLN_ENST00000396442.2_Silent_p.G406G|OCLN_ENST00000542132.1_Silent_p.G84G|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000380766.2_Silent_p.G352G	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	406					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CAACTGGCGGCGAGTCCTGTG	0.507																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(1216-1218)ggC>ggG		occludin							127.0	107.0	114.0					5																	68840911		2202	4298	6500	SO:0001819	synonymous_variant	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68840911C>G	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1218C>G	5.37:g.68840911C>G						OCLN_ENST00000396442.2_Silent_p.G406G|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000538151.1_Silent_p.G155G|OCLN_ENST00000380766.2_Silent_p.G352G|OCLN_ENST00000542132.1_Silent_p.G84G	p.G406G	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	6	1654	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	406					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	ENST00000355237.2	37	c.1218C>G	CCDS4006.1																																																																																				0.507	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		27	191	0	0	0	0.750413	0	27	191				
PCDH10	57575	broad.mit.edu	37	4	134072600	134072601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr4:134072600_134072601insC	ENST00000264360.5	+	1	2131_2132	c.1305_1306insC	c.(1306-1308)cggfs	p.R436fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A435A(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGTAGTGGCTCGGGACCGGGG	0.594																																						ENST00000264360.4																			1	Substitution - coding silent(1)	p.A435A(1)	lung(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1303-1308)gcgggafs		protocadherin 10																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072600_134072601insC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1306dupC	4.37:g.134072601_134072601dupC	ENSP00000264360:p.Arg436fs						p.AG435fs	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2131_2132	+			435			Cadherin 4.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.1305_1306insC	CCDS34063.1																																																																																				0.594	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	327						9	327	---	---	---	---
EIF3CL	728689	broad.mit.edu	37	16	28403353	28403355	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr16:28403353_28403355delTCC	ENST00000398943.3	-	9	1021_1023	c.885_887delGGA	c.(883-888)gaggac>gac	p.E295del	EIF3CL_ENST00000398944.3_In_Frame_Del_p.E295del|EIF3CL_ENST00000380876.4_In_Frame_Del_p.E295del			B5ME19	EIFCL_HUMAN	eukaryotic translation initiation factor 3, subunit C-like	295					formation of translation preinitiation complex (GO:0001731)|regulation of translational initiation (GO:0006446)	eukaryotic 43S preinitiation complex (GO:0016282)|eukaryotic 48S preinitiation complex (GO:0033290)|eukaryotic translation initiation factor 3 complex (GO:0005852)	translation initiation factor activity (GO:0003743)										GCCTTCATTGTCCTCCTCCTCCT	0.547																																						ENST00000398943.3																			0											c.(883-888)gac>ga		eukaryotic translation initiation factor 3, subunit C-like																																				SO:0001651	inframe_deletion	728689							g.chr16:28403353_28403355delTCC		CCDS42136.1	16p11.2	2008-10-28			ENSG00000205609	ENSG00000205609			26347	protein-coding gene	gene with protein product							Standard	NM_001099661		Approved			B5ME19	OTTHUMG00000097025	ENST00000398943.3:c.885_887delGGA	16.37:g.28403362_28403364delTCC	ENSP00000381916:p.Glu295del					EIF3CL_ENST00000380876.4_In_Frame_Del_p.ED295del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.ED295del	p.ED295del							9	1021_1023	-									In_Frame_Del	DEL	ENST00000398943.3	37	c.885_887delGGA	CCDS42136.1																																																																																				0.547	EIF3CL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214116.1			3	5						3	5	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29372348	29372348	+	RNA	DEL	T	T	-	rs368280985		TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr16:29372348delT	ENST00000507381.1	+	0	497				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		TGGGAGGttgttttttttttt	0.478																																						ENST00000398878.3																			0																																																			440352							g.chr16:29372348delT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29372348delT						SNX29P2_ENST00000507381.1_RNA								0	1186	+									RNA	DEL	ENST00000507381.1	37																																																																																						0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		4	5						4	5	---	---	---	---
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667	byFrequency	TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621									nuclear pore complex interacting protein family, member B1, pseudogene																		CTCTTCCCCCGAAAAATGACAA	0.401													aaaaaa|AAAAA|AAAAAA|deletion	3507	0.70028	0.3805	0.8501	5008	,	,		12701	0.8056		0.7843	False		,,,				2504	0.8313					ENST00000547442.1																			0																																																			729602							g.chr18:11625378_11625379insA			18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11625383_11625383dupA														0	621	-									RNA	INS	ENST00000547442.1	37																																																																																						0.401	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000409451.1	NG_023368		3	3						3	3	---	---	---	---
CABP7	164633	broad.mit.edu	37	22	30124615	30124621	+	Splice_Site	DEL	CCAGGTG	CCAGGTG	-			TCGA-BP-4177-01A-02D-1421-08	TCGA-BP-4177-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed088c23-e2ca-491b-94c0-9a5b66a1bd88	6336e23d-aedb-496b-a978-c4ad8ee66323	g.chr22:30124615_30124621delCCAGGTG	ENST00000216144.3	+	3	594_597	c.253_256delCCAGGTG	c.(253-258)ccaggt>gt	p.PG85fs		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			TGTGCCTCCACCAGGTGATGGTCAAGT	0.575																																						ENST00000216144.3																			0				lung(1)|skin(3)	4						c.e3-1		calcium binding protein 7																																				SO:0001630	splice_region_variant	164633					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr22:30124615_30124621delCCAGGTG	BC051805	CCDS13867.1	22q12.2	2013-01-10			ENSG00000100314	ENSG00000100314		"""EF-hand domain containing"""	20834	protein-coding gene	gene with protein product						11785943	Standard	NM_182527		Approved	MGC57793	uc003agl.3	Q86V35	OTTHUMG00000151282	ENST00000216144.3:c.254-1CCAGGTG>-	22.37:g.30124615_30124621delCCAGGTG							p.85_splice	NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)		3	594_597	+			85			EF-hand 2.			Splice_Site	DEL	ENST00000216144.3	37	c.253_splice	CCDS13867.1																																																																																				0.575	CABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322080.1	NM_182527	Frame_Shift_Del	16	68						16	68	---	---	---	---
