#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
HEG1	57493	broad.mit.edu	37	3	124748221	124748221	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr3:124748221A>G	ENST00000311127.4	-	2	495	c.428T>C	c.(427-429)aTg>aCg	p.M143T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	143					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGTCTGAACCATCACGCCCTC	0.488																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(427-429)aTg>aCg		heart development protein with EGF-like domains 1							101.0	95.0	97.0					3																	124748221		1937	4139	6076	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124748221A>G	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.428T>C	3.37:g.124748221A>G	ENSP00000311502:p.Met143Thr						p.M143T	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			2	495	-			143					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.428T>C	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	4.846	0.157299	0.09236	.	.	ENSG00000173706	ENST00000311127	T	0.42131	0.98	5.4	-4.35	0.03656	.	.	.	.	.	T	0.18923	0.0454	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.001	T	0.20009	-1.0288	9	0.33940	T	0.23	.	4.0834	0.09937	0.2563:0.0:0.3375:0.4062	.	143;143	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	T	143	ENSP00000311502:M143T	ENSP00000311502:M143T	M	-	2	0	HEG1	126230911	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.371000	0.07513	-0.326000	0.08564	0.460000	0.39030	ATG		0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		28	26	0	0	0	1	0	28	26				
MCRS1	10445	broad.mit.edu	37	12	49959390	49959390	+	Silent	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49959390A>G	ENST00000550165.1	-	5	476	c.210T>C	c.(208-210)tcT>tcC	p.S70S	MCRS1_ENST00000357123.4_Silent_p.S83S|MCRS1_ENST00000343810.4_Silent_p.S70S|MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	70	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTGCCCGGGTAGAAGATTTTG	0.562																																						ENST00000550165.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						c.(208-210)tcT>tcC		microspherule protein 1							151.0	161.0	158.0					12																	49959390		2203	4300	6503	SO:0001819	synonymous_variant	10445				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding	g.chr12:49959390A>G	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.210T>C	12.37:g.49959390A>G						MCRS1_ENST00000546244.1_5'UTR|MCRS1_ENST00000357123.4_Silent_p.S83S|MCRS1_ENST00000343810.4_Silent_p.S70S	p.S70S			Q96EZ8	MCRS1_HUMAN			5	476	-			70			Ser-rich.		O14742|O75497|Q6VN53|Q7Z372	Silent	SNP	ENST00000550165.1	37	c.210T>C	CCDS8787.1																																																																																				0.562	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337		65	154	0	0	0	1	0	65	154				
DIS3	22894	broad.mit.edu	37	13	73345240	73345240	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr13:73345240G>A	ENST00000377767.4	-	12	1749	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	DIS3_ENST00000545453.1_Missense_Mutation_p.S388F|DIS3_ENST00000377780.4_Missense_Mutation_p.S520F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	550					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACATTTTAAGGAACACAAGTT	0.348										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1648-1650)tCc>tTc		DIS3 mitotic control homolog (S. cerevisiae)							122.0	117.0	119.0					13																	73345240		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73345240G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1649C>T	13.37:g.73345240G>A	ENSP00000366997:p.Ser550Phe	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.S520F|DIS3_ENST00000545453.1_Missense_Mutation_p.S388F	p.S550F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	12	1749	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	550					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1649C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145224	0.77888	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.63417	-0.04;-0.04;-0.04	5.41	5.41	0.78517	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.89863	0.6838	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94406	0.7627	10	0.87932	D	0	.	19.57	0.95407	0.0:0.0:1.0:0.0	.	520;550	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	F	550;520;388	ENSP00000366997:S550F;ENSP00000367011:S520F;ENSP00000440058:S388F	ENSP00000366997:S550F	S	-	2	0	DIS3	72243241	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	9.456000	0.97628	2.702000	0.92279	0.563000	0.77884	TCC		0.348	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		6	36	0	0	0	1	0	6	36				
C6orf211	79624	broad.mit.edu	37	6	151789765	151789765	+	Silent	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr6:151789765A>G	ENST00000367294.3	+	5	1105	c.846A>G	c.(844-846)ggA>ggG	p.G282G	C6orf211_ENST00000545879.1_Silent_p.G163G	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	282										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTTTATGGAAAAACAATTC	0.333																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(844-846)ggA>ggG		chromosome 6 open reading frame 211							122.0	127.0	125.0					6																	151789765		2203	4300	6503	SO:0001819	synonymous_variant	79624						protein binding	g.chr6:151789765A>G	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.846A>G	6.37:g.151789765A>G						C6orf211_ENST00000545879.1_Silent_p.G163G	p.G282G	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1105	+			282					Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	c.846A>G	CCDS5233.1																																																																																				0.333	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		6	90	0	0	0	1	0	6	90				
EGFR	1956	broad.mit.edu	37	7	55240750	55240750	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:55240750G>A	ENST00000275493.2	+	17	2171	c.1994G>A	c.(1993-1995)gGc>gAc	p.G665D	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G620D|EGFR_ENST00000454757.2_Missense_Mutation_p.G612D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	665					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGGGGATCGGCCTCTTCATG	0.652		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1993-1995)gGc>gAc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						86.0	77.0	80.0					7																	55240750		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240750G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1994G>A	7.37:g.55240750G>A	ENSP00000275493:p.Gly665Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G612D|EGFR_ENST00000455089.1_Missense_Mutation_p.G620D	p.G665D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2171	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		665					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1994G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455809	0.63401	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.75154	-0.91;-0.91;-0.91	5.96	5.06	0.68205	.	0.212125	0.50627	D	0.000107	T	0.79370	0.4434	M	0.68952	2.095	0.37027	D	0.896519	P;P	0.49559	0.925;0.925	B;P	0.53450	0.362;0.726	T	0.83017	-0.0169	10	0.51188	T	0.08	.	10.8768	0.46915	0.0:0.1415:0.7115:0.147	.	620;665	Q504U8;P00533	.;EGFR_HUMAN	D	620;535;665;612;459	ENSP00000415559:G620D;ENSP00000275493:G665D;ENSP00000395243:G612D	ENSP00000275493:G665D	G	+	2	0	EGFR	55208244	1.000000	0.71417	0.876000	0.34364	0.806000	0.45545	3.756000	0.55205	1.477000	0.48234	0.655000	0.94253	GGC		0.652	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		386	78	0	0	0	1	0	386	78				
MYO15A	51168	broad.mit.edu	37	17	18023162	18023162	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr17:18023162G>A	ENST00000205890.5	+	2	1386	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCGCCGTACGACGCGCCATA	0.602																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1048-1050)Gac>Aac		myosin XVA							81.0	91.0	88.0					17																	18023162		2032	4175	6207	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023162G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1048G>A	17.37:g.18023162G>A	ENSP00000205890:p.Asp350Asn						p.D350N	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1386	+	all_neural(463;0.228)		350			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1048G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	7.073	0.568708	0.13560	.	.	ENSG00000091536	ENST00000205890	D	0.89196	-2.48	5.6	3.56	0.40772	.	.	.	.	.	T	0.71178	0.3309	N	0.08118	0	0.19300	N	0.999974	P	0.37158	0.585	B	0.17098	0.017	T	0.63849	-0.6544	9	0.56958	D	0.05	.	5.1963	0.15239	0.078:0.1519:0.6224:0.1477	.	350	Q9UKN7	MYO15_HUMAN	N	350	ENSP00000205890:D350N	ENSP00000205890:D350N	D	+	1	0	MYO15A	17963887	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.734000	0.26101	0.689000	0.31550	0.561000	0.74099	GAC		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		13	129	0	0	0	1	0	13	129				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		4	59	0	0	0	1	0	4	59				
VTI1A	143187	broad.mit.edu	37	10	114207166	114207166	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr10:114207166T>C	ENST00000393077.2	+	1	151	c.35T>C	c.(34-36)tTc>tCc	p.F12S	VTI1A_ENST00000483122.1_3'UTR|ZDHHC6_ENST00000369404.3_5'Flank|ZDHHC6_ENST00000369405.3_5'Flank|VTI1A_ENST00000432306.1_Missense_Mutation_p.F12S	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	12					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GAGCAGGACTTCGCGGTGCTC	0.647			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(34-36)tTc>tCc		vesicle transport through interaction with t-SNAREs 1A							55.0	45.0	48.0					10																	114207166		2203	4300	6503	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114207166T>C	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.35T>C	10.37:g.114207166T>C	ENSP00000376792:p.Phe12Ser					VTI1A_ENST00000432306.1_Missense_Mutation_p.F12S|VTI1A_ENST00000483122.1_3'UTR	p.F12S	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	1	151	+		Colorectal(252;0.0314)|Breast(234;0.183)	12					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.35T>C	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	T	29.9	5.049119	0.93740	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	4.73	4.73	0.59995	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.65975	2.015	0.42276	D	0.992072	D;D	0.64830	0.994;0.993	D;D	0.67103	0.932;0.949	T	0.78790	-0.2066	9	0.87932	D	0	-34.6034	12.9425	0.58352	0.0:0.0:0.0:1.0	.	12;12	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	S	12	.	ENSP00000376792:F12S	F	+	2	0	VTI1A	114197156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.615000	0.74201	1.972000	0.57404	0.533000	0.62120	TTC		0.647	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			12	10	0	0	0	1	0	12	10				
ZNF157	7712	broad.mit.edu	37	X	47270081	47270081	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:47270081C>A	ENST00000377073.3	+	3	288	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ATTAACAGGCCTCTGCGTGGC	0.517																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(202-204)Ctc>Atc		zinc finger protein 157							59.0	44.0	49.0					X																	47270081		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47270081C>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.202C>A	X.37:g.47270081C>A	ENSP00000366273:p.Leu68Ile						p.L68I	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			3	288	+			68			KRAB.		Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.202C>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857060	0.51376	.	.	ENSG00000147117	ENST00000377073	T	0.00848	5.62	3.12	2.23	0.28157	Krueppel-associated box (3);	.	.	.	.	T	0.00875	0.0029	L	0.28274	0.84	0.23126	N	0.998255	B	0.30068	0.267	B	0.27500	0.08	T	0.50021	-0.8876	9	0.34782	T	0.22	.	8.0361	0.30493	0.0:0.8679:0.0:0.1321	.	68	P51786	ZN157_HUMAN	I	68	ENSP00000366273:L68I	ENSP00000366273:L68I	L	+	1	0	ZNF157	47155025	0.982000	0.34865	0.996000	0.52242	0.997000	0.91878	0.348000	0.20031	0.683000	0.31428	0.500000	0.49745	CTC		0.517	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		3	16	1	0	0.00024832	1	0.000273152	3	16				
AKAP13	11214	broad.mit.edu	37	15	86284361	86284361	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr15:86284361C>A	ENST00000394518.2	+	35	7788	c.7693C>A	c.(7693-7695)Ccg>Acg	p.P2565T	AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.P810T|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2569T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2565	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTGTCCCGCCCGAGCTCCCT	0.627																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7693-7695)Ccg>Acg		A kinase (PRKA) anchor protein 13							37.0	38.0	38.0					15																	86284361		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284361C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7693C>A	15.37:g.86284361C>A	ENSP00000378026:p.Pro2565Thr					AKAP13_ENST00000394510.2_Missense_Mutation_p.P810T|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2569T|AKAP13_ENST00000560579.1_3'UTR	p.P2565T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	7788	+			2565			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7693C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388173	0.61956	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.20881	2.04;2.04;2.04	5.19	5.19	0.71726	.	.	.	.	.	T	0.47507	0.1449	M	0.72118	2.19	0.44807	D	0.99781	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.43376	-0.9395	9	0.51188	T	0.08	.	17.7343	0.88388	0.0:1.0:0.0:0.0	.	2565;2569	Q12802;Q12802-2	AKP13_HUMAN;.	T	2569;2565;2568;2544;810	ENSP00000354718:P2569T;ENSP00000378026:P2565T;ENSP00000378018:P810T	ENSP00000354718:P2569T	P	+	1	0	AKAP13	84085365	1.000000	0.71417	0.977000	0.42913	0.669000	0.39330	5.255000	0.65462	2.413000	0.81919	0.655000	0.94253	CCG		0.627	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		11	20	1	0	0.00136819	1	0.00144713	11	20				
DCAF12L2	340578	broad.mit.edu	37	X	125299247	125299247	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:125299247G>A	ENST00000360028.2	-	1	687	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R221W			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	221										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGGTCCATCCGCCACAGAGCC	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(661-663)Cgg>Tgg		DDB1 and CUL4 associated factor 12-like 2							35.0	37.0	36.0					X																	125299247		2202	4296	6498	SO:0001583	missense	340578							g.chrX:125299247G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.661C>T	X.37:g.125299247G>A	ENSP00000353128:p.Arg221Trp					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R221W	p.R221W	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	741	-			221					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.661C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	2.612	-0.290529	0.05568	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64085	-0.08;-0.08	4.39	1.35	0.21983	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.291074	0.18660	N	0.134757	T	0.44644	0.1303	L	0.31476	0.935	0.30769	N	0.743216	B	0.19706	0.038	B	0.12837	0.008	T	0.39354	-0.9618	10	0.56958	D	0.05	.	6.0392	0.19724	0.0973:0.0:0.3626:0.5401	.	221	Q5VW00	DC122_HUMAN	W	221	ENSP00000441489:R221W;ENSP00000353128:R221W	ENSP00000353128:R221W	R	-	1	2	DCAF12L2	125126928	0.943000	0.32029	0.052000	0.19188	0.004000	0.04260	1.729000	0.38115	0.006000	0.14734	-0.542000	0.04241	CGG		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		5	76	0	0	0	1	0	5	76				
ZNF557	79230	broad.mit.edu	37	19	7083503	7083503	+	Silent	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:7083503C>G	ENST00000439035.2	+	8	1260	c.1020C>G	c.(1018-1020)ccC>ccG	p.P340P	ZNF557_ENST00000414706.1_Silent_p.P347P|ZNF557_ENST00000252840.6_Silent_p.P347P			Q8N988	ZN557_HUMAN	zinc finger protein 557	340					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAGAAAAACCCTACACATGTA	0.423																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1039-1041)ccC>ccG		zinc finger protein 557							90.0	98.0	95.0					19																	7083503		2182	4289	6471	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083503C>G	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1020C>G	19.37:g.7083503C>G						ZNF557_ENST00000439035.2_Silent_p.P340P|ZNF557_ENST00000252840.6_Silent_p.P347P	p.P347P	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1514	+			340					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.1041C>G	CCDS45945.1																																																																																				0.423	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		29	52	0	0	0	1	0	29	52				
MUC17	140453	broad.mit.edu	37	7	100685498	100685498	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:100685498G>C	ENST00000306151.4	+	3	10865	c.10801G>C	c.(10801-10803)Gtt>Ctt	p.V3601L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3601	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTCCTTCTGTTGACAGAAG	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10801-10803)Gtt>Ctt		mucin 17, cell surface associated							162.0	152.0	155.0					7																	100685498		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685498G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10801G>C	7.37:g.100685498G>C	ENSP00000302716:p.Val3601Leu						p.V3601L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10865	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3601			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10801G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	8.181	0.793786	0.16327	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	1.78	-2.51	0.06365	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	P	0.38711	0.643	D	0.68621	0.959	T	0.48885	-0.8995	9	0.27785	T	0.31	.	3.829	0.08867	0.3007:0.2127:0.4866:0.0	.	3601	Q685J3	MUC17_HUMAN	L	3601	ENSP00000302716:V3601L	ENSP00000302716:V3601L	V	+	1	0	MUC17	100472218	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.916000	0.01576	-0.471000	0.06891	0.186000	0.17326	GTT		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		21	149	0	0	0	1	0	21	149				
BUB1	699	broad.mit.edu	37	2	111415208	111415208	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:111415208A>T	ENST00000302759.6	-	14	1649	c.1531T>A	c.(1531-1533)Tct>Act	p.S511T	BUB1_ENST00000409311.1_Missense_Mutation_p.S511T|BUB1_ENST00000535254.1_Missense_Mutation_p.S491T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	511					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAAGCCCCAGATGACCTTACA	0.303																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1471-1473)Tct>Act		BUB1 mitotic checkpoint serine/threonine kinase							82.0	81.0	81.0					2																	111415208		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111415208A>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1531T>A	2.37:g.111415208A>T	ENSP00000302530:p.Ser511Thr					BUB1_ENST00000409311.1_Missense_Mutation_p.S511T|BUB1_ENST00000302759.6_Missense_Mutation_p.S511T	p.S491T	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	13	1538	-		Ovarian(717;0.0822)	511					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.1471T>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.605346	0.28623	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.33216	2.17;1.42;2.43	5.89	3.19	0.36642	.	0.420263	0.25372	N	0.031155	T	0.29256	0.0728	L	0.54323	1.7	0.09310	N	1	P;P;P	0.51933	0.949;0.932;0.932	P;B;P	0.49085	0.6;0.395;0.499	T	0.08638	-1.0712	10	0.14656	T	0.56	-24.7623	5.2341	0.15437	0.6705:0.1549:0.1746:0.0	.	491;511;511	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	T	491;511;511;511	ENSP00000441013:S491T;ENSP00000386701:S511T;ENSP00000302530:S511T	ENSP00000302530:S511T	S	-	1	0	BUB1	111131681	0.722000	0.28017	0.668000	0.29813	0.558000	0.35554	2.280000	0.43443	1.040000	0.40099	0.455000	0.32223	TCT		0.303	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		8	34	0	0	0	1	0	8	34				
TCN2	6948	broad.mit.edu	37	22	31018998	31018998	+	Missense_Mutation	SNP	G	G	A	rs144166182	byFrequency	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr22:31018998G>A	ENST00000215838.3	+	8	1644	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	TCN2_ENST00000407817.3_Missense_Mutation_p.V357M|TCN2_ENST00000405742.3_Missense_Mutation_p.V380M			P20062	TCO2_HUMAN	transcobalamin II	384					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTAACCTCCGTGATGGGGAA	0.557													G|||	7	0.00139776	0.0	0.0	5008	,	,		17202	0.0		0.0	False		,,,				2504	0.0072					ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(1150-1152)Gtg>Atg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	92.0	86.0	88.0		1150,1069	5.5	0.9	22	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TCN2	NM_000355.3,NM_001184726.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	384/428,357/401	31018998	1,13005	2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31018998G>A		CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.1150G>A	22.37:g.31018998G>A	ENSP00000215838:p.Val384Met					TCN2_ENST00000405742.3_Missense_Mutation_p.V380M|TCN2_ENST00000407817.3_Missense_Mutation_p.V357M	p.V384M			P20062	TCO2_HUMAN			8	1644	+			384					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.1150G>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693921	0.48202	0.0	1.16E-4	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.33654	1.4;1.4;1.4	5.51	5.51	0.81932	.	0.060093	0.64402	D	0.000004	T	0.62938	0.2469	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.67051	-0.5768	10	0.59425	D	0.04	-24.4229	12.6603	0.56809	0.0:0.166:0.834:0.0	.	357;380;384	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	M	384;380;357	ENSP00000215838:V384M;ENSP00000385914:V380M;ENSP00000384914:V357M	ENSP00000215838:V384M	V	+	1	0	TCN2	29348998	0.999000	0.42202	0.909000	0.35828	0.204000	0.24138	3.667000	0.54547	2.595000	0.87683	0.585000	0.79938	GTG		0.557	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		13	106	0	0	0	1	0	13	106				
EGF	1950	broad.mit.edu	37	4	110932547	110932547	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr4:110932547C>A	ENST00000265171.5	+	24	4005	c.3560C>A	c.(3559-3561)tCa>tAa	p.S1187*	EGF_ENST00000503392.1_Nonsense_Mutation_p.S1146*|EGF_ENST00000509793.1_Nonsense_Mutation_p.S1145*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1187					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S1187L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TCTCTCCTATCAGCTAACCCA	0.502																																						ENST00000265171.5																			1	Substitution - Missense(1)	p.S1187L(1)	breast(1)	breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3559-3561)tCa>tAa		epidermal growth factor	Sulindac(DB00605)						109.0	114.0	112.0					4																	110932547		2203	4300	6503	SO:0001587	stop_gained	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932547C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3560C>A	4.37:g.110932547C>A	ENSP00000265171:p.Ser1187*					EGF_ENST00000509793.1_Nonsense_Mutation_p.S1145*|EGF_ENST00000503392.1_Nonsense_Mutation_p.S1146*	p.S1187*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	4005	+		Hepatocellular(203;0.0893)	1187					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Nonsense_Mutation	SNP	ENST00000265171.5	37	c.3560C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	37	6.198199	0.97367	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	4.03	3.2	0.36748	.	0.344337	0.22922	N	0.054014	.	.	.	.	.	.	0.46222	D	0.998931	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0684	0.42317	0.0:0.7962:0.2038:0.0	.	.	.	.	X	1145;1187;1146	.	ENSP00000265171:S1187X	S	+	2	0	EGF	111151996	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	0.760000	0.26475	1.304000	0.44892	-0.121000	0.15023	TCA		0.502	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			12	127	1	0	1.3612e-06	1	1.55971e-06	12	127				
SYN3	8224	broad.mit.edu	37	22	32923909	32923909	+	Silent	SNP	C	C	T	rs182576189		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr22:32923909C>T	ENST00000358763.2	-	12	1556	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	SYN3_ENST00000332840.5_Silent_p.P438P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	438	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCATACCTTGCGGAGGTGGGC	0.587																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1312-1314)ccG>ccA		synapsin III							24.0	23.0	23.0					22																	32923909		2200	4296	6496	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32923909C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1314G>A	22.37:g.32923909C>T						SYN3_ENST00000332840.5_Silent_p.P438P	p.P438P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			12	1556	-			438			J; Pro-rich linker.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.1314G>A	CCDS13908.1																																																																																				0.587	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			4	12	0	0	0	1	0	4	12				
IGKV5-2	28907	broad.mit.edu	37	2	89197262	89197262	+	RNA	SNP	G	G	A	rs549578138		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:89197262G>A	ENST00000390244.2	+	0	370									immunoglobulin kappa variable 5-2																		ATCTGAGGATGCTGCATATTA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		8444	0.0		0.001	False		,,,				2504	0.0					ENST00000390244.2																			0																				73.0	70.0	71.0					2																	89197262		1885	4093	5978			0							g.chr2:89197262G>A	X02485		2p11.2	2012-02-10			ENSG00000211599	ENSG00000211599		"""Immunoglobulins / IGK locus"""	5835	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV52, B2			OTTHUMG00000151535		2.37:g.89197262G>A														0	370	+									RNA	SNP	ENST00000390244.2	37																																																																																						0.438	IGKV5-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323040.2	NG_000834		15	53	0	0	0	1	0	15	53				
FAM47B	170062	broad.mit.edu	37	X	34961676	34961676	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:34961676G>A	ENST00000329357.5	+	1	764	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAGACTCGCGCATCTCAT	0.642													G|||	1	0.000264901	0.0008	0.0	3775	,	,		10389	0.0		0.0	False		,,,				2504	0.0					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(727-729)cGc>cAc		family with sequence similarity 47, member B							56.0	53.0	54.0					X																	34961676		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961676G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.728G>A	X.37:g.34961676G>A	ENSP00000328307:p.Arg243His						p.R243H	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	764	+			243			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.728G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052785	0.19907	.	.	ENSG00000189132	ENST00000329357	T	0.15952	2.38	0.235	0.235	0.15431	.	.	.	.	.	T	0.09642	0.0237	N	0.25485	0.75	0.09310	N	1	B	0.24675	0.109	B	0.18871	0.023	T	0.30966	-0.9960	9	0.48119	T	0.1	.	2.6949	0.05132	0.4489:0.0:0.5511:0.0	.	243	Q8NA70	FA47B_HUMAN	H	243	ENSP00000328307:R243H	ENSP00000328307:R243H	R	+	2	0	FAM47B	34871597	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.046000	0.14035	0.288000	0.22398	0.292000	0.19580	CGC		0.642	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		11	72	0	0	0	1	0	11	72				
KCNA5	3741	broad.mit.edu	37	12	5153998	5153998	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:5153998C>T	ENST00000252321.3	+	1	914	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCCCTGCCCCGCAACGAGTT	0.607																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(685-687)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 5							67.0	76.0	73.0					12																	5153998		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153998C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.685C>T	12.37:g.5153998C>T	ENSP00000252321:p.Arg229Cys						p.R229C	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	914	+			229					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.685C>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132014	0.56828	.	.	ENSG00000130037	ENST00000252321	T	0.65916	-0.18	4.77	4.77	0.60923	.	1.183500	0.06286	U	0.698225	T	0.59115	0.2170	L	0.45581	1.43	0.40458	D	0.980213	B	0.19583	0.037	B	0.17433	0.018	T	0.52487	-0.8569	10	0.72032	D	0.01	.	10.5393	0.45024	0.0:0.9126:0.0:0.0874	.	229	P22460	KCNA5_HUMAN	C	229	ENSP00000252321:R229C	ENSP00000252321:R229C	R	+	1	0	KCNA5	5024259	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-1.260000	0.02858	2.478000	0.83669	0.561000	0.74099	CGC		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		14	94	0	0	0	1	0	14	94				
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTGGATAAATATGGAAGCGT	0.343																																						ENST00000312132.4																			0																																																			0							g.chr7:102912190T>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912190T>G														0	2389	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.343	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	62	0	0	0	1	0	3	62				
COL16A1	1307	broad.mit.edu	37	1	32157245	32157245	+	Splice_Site	SNP	T	T	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:32157245T>G	ENST00000373672.3	-	18	1774		c.e18-2		COL16A1_ENST00000271069.6_Splice_Site|COL16A1_ENST00000373668.3_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGCCGGCCCTGTGGGGGGAT	0.652																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.e18-2		collagen, type XVI, alpha 1							108.0	114.0	112.0					1																	32157245		1920	4120	6040	SO:0001630	splice_region_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32157245T>G	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1258-2A>C	1.37:g.32157245T>G						COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site		NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	18	1774	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)						Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37		CCDS41297.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502341	0.44455	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1645	0.54123	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31929832	1.000000	0.71417	0.995000	0.50966	0.518000	0.34316	6.219000	0.72231	1.936000	0.56123	0.379000	0.24179	.		0.652	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Intron	5	40	0	0	0	1	0	5	40				
KIF26B	55083	broad.mit.edu	37	1	245849237	245849237	+	Silent	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:245849237C>T	ENST00000407071.2	+	12	3392	c.2952C>T	c.(2950-2952)tcC>tcT	p.S984S	KIF26B_ENST00000366518.4_Silent_p.S603S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622																																						ENST00000366518.4																			2	Substitution - coding silent(2)	p.S984S(2)	prostate(2)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1807-1809)tcC>tcT		kinesin family member 26B							21.0	29.0	26.0					1																	245849237		2029	4180	6209	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849237C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2952C>T	1.37:g.245849237C>T						KIF26B_ENST00000407071.2_Silent_p.S984S	p.S603S			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1913	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		984			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1809C>T	CCDS44342.1																																																																																				0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		5	30	0	0	0	1	0	5	30				
DCDC1	341019	broad.mit.edu	37	11	30926645	30926645	+	Missense_Mutation	SNP	G	G	A	rs144668195		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:30926645G>A	ENST00000597505.1	-	29	4170	c.4171C>T	c.(4171-4173)Cgg>Tgg	p.R1391W	DCDC1_ENST00000339794.5_Missense_Mutation_p.R470W|DCDC1_ENST00000406071.2_Missense_Mutation_p.R126W			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTCTTCATCCGTAAAGACAAT	0.403																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4171-4173)Cgg>Tgg		doublecortin domain containing 1		G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	119.0	109.0	112.0		1492	4.4	1.0	11	dbSNP_134	112	0,8598		0,0,4299	no	missense	DCDC5	NM_020869.3	101	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	498/891	30926645	1,13001	2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30926645G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4171C>T	11.37:g.30926645G>A	ENSP00000472625:p.Arg1391Trp					DCDC1_ENST00000339794.5_Missense_Mutation_p.R470W|DCDC1_ENST00000406071.2_Missense_Mutation_p.R126W	p.R1391W			P59894	DCDC1_HUMAN			29	4170	-	Lung SC(675;0.225)		153					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4171C>T		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613394	0.46631	2.27E-4	0.0	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.31	4.39	0.52855	.	0.130642	0.35525	N	0.003156	T	0.43233	0.1238	M	0.68952	2.095	0.24271	N	0.995246	B	0.14012	0.009	B	0.09377	0.004	T	0.43228	-0.9404	9	0.87932	D	0	-12.7683	7.3687	0.26790	0.088:0.0:0.7475:0.1645	.	470	Q6ZRR9	DCDC5_HUMAN	W	126;470	.	ENSP00000341700:R470W	R	-	1	2	DCDC5	30883221	0.404000	0.25328	1.000000	0.80357	0.081000	0.17604	0.679000	0.25291	2.474000	0.83562	0.655000	0.94253	CGG		0.403	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		4	44	0	0	0	1	0	4	44				
TLR7	51284	broad.mit.edu	37	X	12905054	12905054	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:12905054G>C	ENST00000380659.3	+	3	1566	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	476					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGGAGTTGCAGATTCAAAAAC	0.368																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1426-1428)aGa>aCa		toll-like receptor 7	Imiquimod(DB00724)						83.0	87.0	86.0					X																	12905054		2202	4300	6502	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905054G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1427G>C	X.37:g.12905054G>C	ENSP00000370034:p.Arg476Thr						p.R476T	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1566	+			476					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1427G>C	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267123	0.23136	.	.	ENSG00000196664	ENST00000380659	T	0.41400	1.0	5.84	2.5	0.30297	.	0.252060	0.37809	N	0.001922	T	0.34948	0.0915	L	0.57536	1.79	0.30622	N	0.758369	B	0.20368	0.044	B	0.27887	0.084	T	0.36089	-0.9762	10	0.54805	T	0.06	.	3.6308	0.08131	0.3858:0.0:0.4392:0.175	.	476	Q9NYK1	TLR7_HUMAN	T	476	ENSP00000370034:R476T	ENSP00000370034:R476T	R	+	2	0	TLR7	12814975	1.000000	0.71417	0.764000	0.31436	0.836000	0.47400	4.409000	0.59768	1.230000	0.43646	0.600000	0.82982	AGA		0.368	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		39	101	0	0	0	1	0	39	101				
CASP4	837	broad.mit.edu	37	11	104815486	104815486	+	Silent	SNP	G	G	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:104815486G>T	ENST00000444739.2	-	8	2038	c.1128C>A	c.(1126-1128)ggC>ggA	p.G376G	CASP4_ENST00000393150.3_Silent_p.G320G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	376					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATTTTCAATTGCCAGGAAAGA	0.383																																						ENST00000444739.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23						c.(1126-1128)ggC>ggA		caspase 4, apoptosis-related cysteine peptidase							128.0	110.0	116.0					11																	104815486		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104815486G>T	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.1128C>A	11.37:g.104815486G>T						CASP4_ENST00000393150.3_Silent_p.G320G	p.G376G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	8	2038	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	376					A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.1128C>A	CCDS8327.1																																																																																				0.383	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		8	36	1	0	0.000978159	1	0.00105488	8	36				
CLSTN3	9746	broad.mit.edu	37	12	7295599	7295599	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:7295599G>A	ENST00000266546.6	+	11	2125	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.E571K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	559					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TAGGGATTTCGAGAGCCTGGG	0.612																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1711-1713)Gag>Aag		calsyntenin 3							67.0	57.0	60.0					12																	7295599		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7295599G>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1675G>A	12.37:g.7295599G>A	ENSP00000266546:p.Glu559Lys					CLSTN3_ENST00000266546.6_Missense_Mutation_p.E559K	p.E571K			Q9BQT9	CSTN3_HUMAN			10	2249	+			559					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.1711G>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327124	0.81690	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.34072	1.38;1.38	5.08	5.08	0.68730	.	0.161582	0.53938	D	0.000051	T	0.31544	0.0800	L	0.52573	1.65	0.80722	D	1	P;P	0.47545	0.897;0.756	B;B	0.32677	0.08;0.15	T	0.32214	-0.9915	10	0.51188	T	0.08	-27.0808	18.4777	0.90799	0.0:0.0:1.0:0.0	.	571;559	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	559;571	ENSP00000266546:E559K;ENSP00000440679:E571K	ENSP00000266546:E559K	E	+	1	0	CLSTN3	7186866	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.455000	0.97625	2.353000	0.79882	0.442000	0.29010	GAG		0.612	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		15	32	0	0	0	1	0	15	32				
TMCO3	55002	broad.mit.edu	37	13	114149982	114149982	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr13:114149982C>T	ENST00000434316.2	+	2	445	c.86C>T	c.(85-87)gCg>gTg	p.A29V	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.A29V	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAGGAGGTGGCGCAGCGTGTG	0.647																																						ENST00000434316.2																			0				NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25						c.(85-87)gCg>gTg		transmembrane and coiled-coil domains 3							65.0	59.0	61.0					13																	114149982		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114149982C>T	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.86C>T	13.37:g.114149982C>T	ENSP00000389399:p.Ala29Val					TMCO3_ENST00000375391.1_Missense_Mutation_p.A29V|TMCO3_ENST00000474393.1_3'UTR	p.A29V	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		2	445	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	29					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.86C>T	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634002	0.29068	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.35236	1.32	5.46	3.73	0.42828	.	0.108901	0.64402	N	0.000009	T	0.23451	0.0567	L	0.38838	1.175	0.45108	D	0.998121	B;B	0.30793	0.1;0.295	B;B	0.22880	0.016;0.042	T	0.04495	-1.0947	10	0.21014	T	0.42	-12.8144	8.8748	0.35339	0.0:0.7154:0.0:0.2846	.	29;29	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	V	29	ENSP00000389399:A29V	ENSP00000364540:A29V	A	+	2	0	TMCO3	113197983	0.998000	0.40836	0.068000	0.19968	0.098000	0.18820	3.628000	0.54259	0.698000	0.31739	0.555000	0.69702	GCG		0.647	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		16	19	0	0	0	1	0	16	19				
TVP23B	51030	broad.mit.edu	37	17	18692723	18692723	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr17:18692723A>G	ENST00000307767.8	+	2	369	c.70A>G	c.(70-72)Aat>Gat	p.N24D	TVP23B_ENST00000574226.1_Missense_Mutation_p.N24D|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	24						integral component of membrane (GO:0016021)											GGAGACGACTAATAGACCAAG	0.413																																						ENST00000307767.8																			0											c.(70-72)Aat>Gat		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							263.0	233.0	243.0					17																	18692723		2203	4300	6503	SO:0001583	missense	51030							g.chr17:18692723A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.70A>G	17.37:g.18692723A>G	ENSP00000305654:p.Asn24Asp					TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.N24D	p.N24D	NM_016078.4	NP_057162.4					2	369	+								A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	c.70A>G	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	A	0.195	-1.049636	0.01981	.	.	ENSG00000171928	ENST00000307767	T	0.29142	1.58	2.77	-1.43	0.08884	.	0.657712	0.15660	N	0.250972	T	0.17450	0.0419	L	0.43152	1.355	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.31806	-0.9930	10	0.11485	T	0.65	-0.4682	3.7192	0.08449	0.5657:0.1914:0.2429:0.0	.	24	Q9NYZ1	F18B1_HUMAN	D	24	ENSP00000305654:N24D	ENSP00000305654:N24D	N	+	1	0	FAM18B1	18633448	0.440000	0.25618	0.017000	0.16124	0.388000	0.30384	2.962000	0.49176	-0.465000	0.06953	0.163000	0.16589	AAT		0.413	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		19	69	0	0	0	1	0	19	69				
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A	rs201864661		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)Ccg>Acg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr						p.P679T	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2035	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.2035C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	142	1	0	3.59834e-05	1	4.03895e-05	6	142				
CUX2	23316	broad.mit.edu	37	12	111758084	111758084	+	Silent	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:111758084G>A	ENST00000261726.6	+	17	2425	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	757					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGCAGGCGCCGCTCCCGG	0.736																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2269-2271)gcG>gcA		cut-like homeobox 2							8.0	10.0	10.0					12																	111758084		1568	3648	5216	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758084G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2271G>A	12.37:g.111758084G>A							p.A757A	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2425	+			757					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.2271G>A	CCDS41837.1																																																																																				0.736	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		3	14	0	0	0	1	0	3	14				
HHIPL1	84439	broad.mit.edu	37	14	100123456	100123456	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr14:100123456G>T	ENST00000330710.5	+	3	1120	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G341V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	341					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GACCCCTTTGGGACATTTGGA	0.532																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(1021-1023)gGg>gTg		HHIP-like 1							210.0	209.0	209.0					14																	100123456		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100123456G>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1022G>T	14.37:g.100123456G>T	ENSP00000330601:p.Gly341Val					HHIPL1_ENST00000357223.2_Missense_Mutation_p.G341V	p.G341V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			3	1120	+		Melanoma(154;0.128)	341					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.1022G>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	N	20.2	3.949362	0.73787	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.10763	2.84;2.84	4.58	4.58	0.56647	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.134229	0.50627	D	0.000108	T	0.35008	0.0917	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.22382	-1.0218	10	0.87932	D	0	.	17.8241	0.88658	0.0:0.0:1.0:0.0	.	341;341	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	V	341	ENSP00000330601:G341V;ENSP00000349757:G341V	ENSP00000330601:G341V	G	+	2	0	HHIPL1	99193209	1.000000	0.71417	0.936000	0.37596	0.578000	0.36192	9.725000	0.98778	2.256000	0.74724	0.536000	0.68110	GGG		0.532	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		68	169	1	0	1.7488e-33	1	2.04646e-33	68	169				
ARHGEF1	9138	broad.mit.edu	37	19	42396888	42396888	+	Silent	SNP	G	G	A			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:42396888G>A	ENST00000354532.3	+	7	730	c.582G>A	c.(580-582)gcG>gcA	p.A194A	ARHGEF1_ENST00000347545.4_Silent_p.A161A|ARHGEF1_ENST00000599846.1_Silent_p.A194A|ARHGEF1_ENST00000378152.4_Silent_p.A176A|ARHGEF1_ENST00000337665.4_Silent_p.A209A	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	194	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGCACGTGGCGGAGCGGCTGC	0.706																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(580-582)gcG>gcA		Rho guanine nucleotide exchange factor (GEF) 1							12.0	15.0	14.0					19																	42396888		2193	4279	6472	SO:0001819	synonymous_variant	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396888G>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.582G>A	19.37:g.42396888G>A						ARHGEF1_ENST00000337665.4_Silent_p.A209A|ARHGEF1_ENST00000347545.4_Silent_p.A161A|ARHGEF1_ENST00000354532.3_Silent_p.A194A|ARHGEF1_ENST00000378152.4_Silent_p.A176A	p.A194A			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	7	707	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	194			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.582G>A	CCDS12591.1																																																																																				0.706	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		7	13	0	0	0	1	0	7	13				
ZSCAN1	284312	broad.mit.edu	37	19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	rs148253808		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10629	0.0		0.0	False		,,,				2504	0.001					ENST00000282326.1																			1	Substitution - Missense(1)	p.A89T(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(265-267)Gcg>Acg		zinc finger and SCAN domain containing 1		G	THR/ALA	1,4393		0,1,2196	17.0	17.0	17.0		265	-1.9	0.0	19	dbSNP_134	17	0,8588		0,0,4294	no	missense	ZSCAN1	NM_182572.3	58	0,1,6490	AA,AG,GG		0.0,0.0228,0.0077	benign	89/409	58549469	1,12981	2197	4294	6491	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549469G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.265G>A	19.37:g.58549469G>A	ENSP00000282326:p.Ala89Thr					ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	512	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	89			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.265G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378188	0.61735	2.28E-4	0.0	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04360	3.64;3.64	2.08	-1.9	0.07665	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05502	0.0145	L	0.38733	1.17	0.09310	N	1	P;P	0.52170	0.95;0.951	P;B	0.51999	0.687;0.404	T	0.32375	-0.9909	9	0.27082	T	0.32	.	1.9367	0.03338	0.3721:0.0:0.362:0.2659	.	89;89	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	T	89	ENSP00000375581:A89T;ENSP00000282326:A89T	ENSP00000282326:A89T	A	+	1	0	ZSCAN1	63241281	0.000000	0.05858	0.034000	0.17996	0.964000	0.63967	0.070000	0.14573	-0.194000	0.10399	0.393000	0.25936	GCG		0.692	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		11	13	0	0	0	1	0	11	13				
SLC26A4	5172	broad.mit.edu	37	7	107355878	107355878	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:107355878C>G	ENST00000265715.3	+	21	2554	c.2330C>G	c.(2329-2331)aCa>aGa	p.T777R	SLC26A4_ENST00000544569.1_Missense_Mutation_p.T364R|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T338R|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T346R	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	777					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTATGCGTACACTTGCATCC	0.373									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2329-2331)aCa>aGa		solute carrier family 26 (anion exchanger), member 4							169.0	165.0	167.0					7																	107355878		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107355878C>G	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.2330C>G	7.37:g.107355878C>G	ENSP00000265715:p.Thr777Arg					SLC26A4_ENST00000544569.1_Missense_Mutation_p.T364R|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T338R|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T346R	p.T777R	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			21	2554	+			777					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.2330C>G	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.746335	0.00669	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94184	-3.07;-3.3;-3.36;-3.37	5.76	2.98	0.34508	.	1.160070	0.06229	N	0.688250	D	0.83330	0.5231	N	0.08118	0	0.24235	N	0.995387	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.68754	-0.5325	10	0.02654	T	1	.	8.5528	0.33462	0.0803:0.304:0.6157:0.0	.	338;364;777	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	R	777;338;364;346	ENSP00000265715:T777R;ENSP00000439743:T338R;ENSP00000437427:T364R;ENSP00000441209:T346R	ENSP00000265715:T777R	T	+	2	0	SLC26A4	107143114	0.999000	0.42202	0.923000	0.36655	0.285000	0.27093	1.561000	0.36342	0.445000	0.26639	-1.075000	0.02238	ACA		0.373	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		5	143	0	0	0	1	0	5	143				
GOLGA6C	653641	broad.mit.edu	37	15	75562495	75562495	+	Silent	SNP	G	G	T	rs138154232	byFrequency	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr15:75562495G>T	ENST00000300576.5	+	18	2037	c.2037G>T	c.(2035-2037)ccG>ccT	p.P679P	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						ACAACCCCCCGGTACAGCAGA	0.602													N|||	184	0.0367412	0.1339	0.0086	5008	,	,		17187	0.0		0.001	False		,,,				2504	0.0					ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)ccG>ccT		golgin A6 family, member C							52.0	65.0	61.0					15																	75562495		652	1575	2227	SO:0001819	synonymous_variant	653641							g.chr15:75562495G>T		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2037G>T	15.37:g.75562495G>T							p.P679P	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2037	+			679						Silent	SNP	ENST00000300576.5	37	c.2037G>T	CCDS58388.1																																																																																				0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	144	1	0	0.0215528	1	0.0215528	6	144				
KIFAP3	22920	broad.mit.edu	37	1	169985738	169985738	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:169985738C>G	ENST00000361580.2	-	10	1275	c.1048G>C	c.(1048-1050)Gtg>Ctg	p.V350L	KIFAP3_ENST00000367765.1_Missense_Mutation_p.V310L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.V306L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.V272L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.V52L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	350					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCATTTTCACCAGTTTTTCA	0.328																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(928-930)Gtg>Ctg		kinesin-associated protein 3							115.0	109.0	111.0					1																	169985738		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169985738C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1048G>C	1.37:g.169985738C>G	ENSP00000354560:p.Val350Leu					KIFAP3_ENST00000361580.2_Missense_Mutation_p.V350L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.V306L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.V52L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.V272L	p.V310L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			10	2429	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		350					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.928G>C	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393234	0.25118	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.176753	0.49305	D	0.000143	T	0.14830	0.0358	N	0.16743	0.435	0.41927	D	0.990543	B	0.16396	0.017	B	0.19666	0.026	T	0.07578	-1.0765	9	.	.	.	-24.1442	14.5551	0.68094	0.1464:0.8536:0.0:0.0	.	350	Q92845	KIFA3_HUMAN	L	350;310;306;52;272	ENSP00000354560:V350L;ENSP00000356739:V310L;ENSP00000356741:V306L;ENSP00000442712:V52L;ENSP00000444622:V272L	.	V	-	1	0	KIFAP3	168252362	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.513000	0.67037	2.758000	0.94735	0.563000	0.77884	GTG		0.328	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		7	106	0	0	0	1	0	7	106				
SOWAHB	345079	broad.mit.edu	37	4	77817817	77817817	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr4:77817817C>G	ENST00000334306.2	-	1	1185	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	396																	TCCACAAAGTCATCCAGATCT	0.572																																						ENST00000334306.2																			0											c.(1186-1188)Gac>Cac		sosondowah ankyrin repeat domain family member B							71.0	76.0	74.0					4																	77817817		2203	4300	6503	SO:0001583	missense	345079							g.chr4:77817817C>G		CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"""Ankyrin repeat domain containing"""	32958	protein-coding gene	gene with protein product			"""ankyrin repeat domain 56"""	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.1186G>C	4.37:g.77817817C>G	ENSP00000334879:p.Asp396His						p.D396H	NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN			1	1185	-			396					B2RP29	Missense_Mutation	SNP	ENST00000334306.2	37	c.1186G>C	CCDS34017.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579172	0.46006	.	.	ENSG00000186212	ENST00000334306	T	0.10477	2.87	4.77	3.84	0.44239	.	0.179466	0.26677	U	0.023066	T	0.16896	0.0406	L	0.27053	0.805	0.33304	D	0.565221	D	0.71674	0.998	P	0.61397	0.888	T	0.06250	-1.0837	10	0.66056	D	0.02	-10.3007	12.0655	0.53586	0.0:0.9022:0.0:0.0978	.	396	A6NEL2	ANR56_HUMAN	H	396	ENSP00000334879:D396H	ENSP00000334879:D396H	D	-	1	0	ANKRD56	78036841	0.973000	0.33851	0.998000	0.56505	0.333000	0.28666	2.337000	0.43947	2.469000	0.83416	0.655000	0.94253	GAC		0.572	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362762.1	NM_001029870		35	70	0	0	0	1	0	35	70				
TACC2	10579	broad.mit.edu	37	10	124009064	124009064	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr10:124009064A>G	ENST00000369005.1	+	22	9006	c.8666A>G	c.(8665-8667)aAt>aGt	p.N2889S	TACC2_ENST00000515603.1_Missense_Mutation_p.N2767S|TACC2_ENST00000358010.1_Missense_Mutation_p.N1035S|TACC2_ENST00000368999.1_Missense_Mutation_p.N979S|TACC2_ENST00000515273.1_Missense_Mutation_p.N2816S|TACC2_ENST00000334433.3_Missense_Mutation_p.N2889S|TACC2_ENST00000369001.1_Missense_Mutation_p.N516S|TACC2_ENST00000369004.3_Missense_Mutation_p.N949S|TACC2_ENST00000369000.1_Missense_Mutation_p.N512S|TACC2_ENST00000260733.3_Missense_Mutation_p.N967S|TACC2_ENST00000360561.3_Missense_Mutation_p.N937S|TACC2_ENST00000513429.1_Missense_Mutation_p.N1035S|TACC2_ENST00000453444.2_Missense_Mutation_p.N2816S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2889					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCAGGGCCAATGCTGAGATT	0.612																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8665-8667)aAt>aGt		transforming, acidic coiled-coil containing protein 2							41.0	40.0	40.0					10																	124009064		2203	4298	6501	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124009064A>G	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.8666A>G	10.37:g.124009064A>G	ENSP00000358001:p.Asn2889Ser					TACC2_ENST00000368999.1_Missense_Mutation_p.N979S|TACC2_ENST00000360561.3_Missense_Mutation_p.N937S|TACC2_ENST00000515603.1_Missense_Mutation_p.N2767S|TACC2_ENST00000453444.2_Missense_Mutation_p.N2816S|TACC2_ENST00000369001.1_Missense_Mutation_p.N516S|TACC2_ENST00000358010.1_Missense_Mutation_p.N1035S|TACC2_ENST00000513429.1_Missense_Mutation_p.N1035S|TACC2_ENST00000334433.3_Missense_Mutation_p.N2889S|TACC2_ENST00000369004.3_Missense_Mutation_p.N949S|TACC2_ENST00000260733.3_Missense_Mutation_p.N967S|TACC2_ENST00000515273.1_Missense_Mutation_p.N2816S|TACC2_ENST00000369000.1_Missense_Mutation_p.N512S	p.N2889S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			22	9006	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2889					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8666A>G	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514606	0.85389	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.16	5.16	0.70880	.	0.000000	0.39759	N	0.001278	T	0.61615	0.2361	L	0.31578	0.945	0.53688	D	0.999977	D;D;D;D;D;P;D;P;D	0.76494	0.989;0.999;0.995;0.999;0.983;0.703;0.999;0.808;0.995	D;D;D;D;D;P;D;P;D	0.91635	0.977;0.996;0.985;0.999;0.95;0.79;0.996;0.876;0.985	T	0.63301	-0.6668	10	0.48119	T	0.1	-21.0358	15.3027	0.73966	1.0:0.0:0.0:0.0	.	2816;949;2767;2816;937;967;512;1035;2889	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	S	2889;1035;2816;2767;2889;1035;2816;2802;516;512;937;979;949;967	ENSP00000358001:N2889S;ENSP00000425062:N1035S;ENSP00000424467:N2816S;ENSP00000427618:N2767S;ENSP00000334280:N2889S;ENSP00000350701:N1035S;ENSP00000395048:N2816S;ENSP00000357997:N516S;ENSP00000357996:N512S;ENSP00000353763:N937S;ENSP00000357995:N979S;ENSP00000422815:N949S;ENSP00000260733:N967S	ENSP00000260733:N967S	N	+	2	0	TACC2	123999054	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	7.386000	0.79775	2.081000	0.62600	0.533000	0.62120	AAT		0.612	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	13	0	0	0	1	0	13	13				
DCAF8L1	139425	broad.mit.edu	37	X	27998163	27998163	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:27998163C>G	ENST00000441525.1	-	1	1403	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	430										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCCTTATATCTCTTAACATA	0.458																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1288-1290)aGa>aCa		DDB1 and CUL4 associated factor 8-like 1							64.0	58.0	60.0					X																	27998163		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998163C>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1289G>C	X.37:g.27998163C>G	ENSP00000405222:p.Arg430Thr						p.R430T	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1403	-			430					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1289G>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493303	0.12702	.	.	ENSG00000226372	ENST00000441525	T	0.79247	-1.25	0.842	-0.186	0.13272	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108661	0.64402	D	0.000007	T	0.61073	0.2318	L	0.45228	1.405	0.37615	D	0.921088	B	0.23442	0.085	B	0.23275	0.045	T	0.47071	-0.9145	10	0.09084	T	0.74	-6.8257	6.3317	0.21274	0.0:0.6913:0.3086:0.0	.	430	A6NGE4	DC8L1_HUMAN	T	430	ENSP00000405222:R430T	ENSP00000405222:R430T	R	-	2	0	DCAF8L1	27908084	1.000000	0.71417	0.443000	0.26883	0.044000	0.14063	1.867000	0.39499	-0.134000	0.11516	-0.893000	0.02921	AGA		0.458	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		9	39	0	0	0	1	0	9	39				
PCDH19	57526	broad.mit.edu	37	X	99661865	99661865	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:99661865T>C	ENST00000373034.4	-	1	3406	c.1731A>G	c.(1729-1731)atA>atG	p.I577M	PCDH19_ENST00000420881.2_Missense_Mutation_p.I577M|PCDH19_ENST00000255531.7_Missense_Mutation_p.I577M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	577	Cadherin 6. {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)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGTTGCGGGGTATGTAGACCT	0.572																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1729-1731)atA>atG		protocadherin 19							88.0	86.0	87.0					X																	99661865		2109	4184	6293	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661865T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1731A>G	X.37:g.99661865T>C	ENSP00000362125:p.Ile577Met					PCDH19_ENST00000255531.7_Missense_Mutation_p.I577M|PCDH19_ENST00000420881.2_Missense_Mutation_p.I577M	p.I577M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3406	-			577			Cadherin 6.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1731A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096399	0.36952	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.56444	0.46;0.46;0.46	5.84	-4.55	0.03441	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.70595	2.14	0.58432	D	0.999997	D;D;D	0.61697	0.99;0.973;0.979	D;P;P	0.67231	0.95;0.8;0.873	T	0.58584	-0.7611	10	0.62326	D	0.03	.	0.9048	0.01282	0.3583:0.0984:0.2229:0.3205	.	577;577;577	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	577	ENSP00000400327:I577M;ENSP00000362125:I577M;ENSP00000255531:I577M	ENSP00000255531:I577M	I	-	3	3	PCDH19	99548521	0.991000	0.36638	0.878000	0.34440	0.735000	0.41995	0.269000	0.18589	-1.233000	0.02551	-0.483000	0.04790	ATA		0.572	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		4	87	0	0	0	1	0	4	87				
C4BPA	722	broad.mit.edu	37	1	207297295	207297295	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:207297295C>T	ENST00000367070.3	+	5	651	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	153	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AACCACTAGTCGTTGTGAAGT	0.363																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(457-459)Cgt>Tgt		complement component 4 binding protein, alpha							70.0	68.0	69.0					1																	207297295		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297295C>T	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.457C>T	1.37:g.207297295C>T	ENSP00000356037:p.Arg153Cys						p.R153C	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			5	651	+			153			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.457C>T	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055561	0.55325	.	.	ENSG00000123838	ENST00000367070	T	0.66099	-0.19	5.9	-3.42	0.04825	Complement control module (2);Sushi/SCR/CCP (3);	1.832770	0.02365	N	0.077236	T	0.67325	0.2881	M	0.77103	2.36	0.09310	N	1	P	0.36874	0.572	P	0.48304	0.573	T	0.54833	-0.8234	10	0.38643	T	0.18	.	1.4732	0.02420	0.1597:0.317:0.1202:0.4031	.	153	P04003	C4BPA_HUMAN	C	153	ENSP00000356037:R153C	ENSP00000356037:R153C	R	+	1	0	C4BPA	205363918	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	-1.040000	0.03546	-0.388000	0.07797	-0.145000	0.13849	CGT		0.363	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			4	39	0	0	0	1	0	4	39				
RAI2	10742	broad.mit.edu	37	X	17819635	17819635	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:17819635G>C	ENST00000545871.1	-	3	956	c.496C>G	c.(496-498)Ccc>Gcc	p.P166A	RAI2_ENST00000331511.1_Missense_Mutation_p.P166A|RAI2_ENST00000451717.1_Missense_Mutation_p.P166A|RAI2_ENST00000415486.3_Missense_Mutation_p.P116A|RAI2_ENST00000360011.1_Missense_Mutation_p.P166A	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	166					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGAGCTGGGGCTGGGCCTCG	0.637																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(496-498)Ccc>Gcc		retinoic acid induced 2							41.0	46.0	44.0					X																	17819635		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17819635G>C	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.496C>G	X.37:g.17819635G>C	ENSP00000444210:p.Pro166Ala					RAI2_ENST00000360011.1_Missense_Mutation_p.P166A|RAI2_ENST00000331511.1_Missense_Mutation_p.P166A|RAI2_ENST00000415486.3_Missense_Mutation_p.P116A|RAI2_ENST00000451717.1_Missense_Mutation_p.P166A	p.P166A	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	956	-	Hepatocellular(33;0.183)		166					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.496C>G	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.173246	0.38413	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;1.18	5.73	4.81	0.61882	.	0.148795	0.45867	D	0.000340	T	0.36276	0.0961	L	0.29908	0.895	0.45946	D	0.998775	P;P	0.45715	0.865;0.865	B;B	0.43478	0.421;0.421	T	0.25117	-1.0141	10	0.54805	T	0.06	-22.2538	14.8795	0.70522	0.0:0.1402:0.8597:0.0	.	116;166	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	A	166;166;166;166;116	ENSP00000333456:P166A;ENSP00000353106:P166A;ENSP00000444210:P166A;ENSP00000401323:P166A;ENSP00000392578:P116A	ENSP00000333456:P166A	P	-	1	0	RAI2	17729556	1.000000	0.71417	0.991000	0.47740	0.862000	0.49288	6.964000	0.76061	2.404000	0.81709	0.597000	0.82753	CCC		0.637	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		4	76	0	0	0	1	0	4	76				
CACNB3	784	broad.mit.edu	37	12	49219447	49219447	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49219447T>C	ENST00000301050.2	+	9	836	c.637T>C	c.(637-639)Tcc>Ccc	p.S213P	CACNB3_ENST00000547230.1_Missense_Mutation_p.S172P|CACNB3_ENST00000547392.1_Missense_Mutation_p.S186P|CACNB3_ENST00000540990.1_Missense_Mutation_p.S200P|CACNB3_ENST00000536187.2_Missense_Mutation_p.S212P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	213					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCAGGATCTCCATCACCCG	0.562																																						ENST00000301050.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(637-639)Tcc>Ccc		calcium channel, voltage-dependent, beta 3 subunit	Verapamil(DB00661)						106.0	95.0	99.0					12																	49219447		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49219447T>C		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.637T>C	12.37:g.49219447T>C	ENSP00000301050:p.Ser213Pro					CACNB3_ENST00000547392.1_Missense_Mutation_p.S186P|CACNB3_ENST00000536187.2_Missense_Mutation_p.S212P|CACNB3_ENST00000547230.1_Missense_Mutation_p.S172P|CACNB3_ENST00000540990.1_Missense_Mutation_p.S200P	p.S213P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN			9	836	+			213					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.637T>C	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.170568	0.78452	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000550064;ENST00000547818;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.60575	0.965;0.985;0.972;0.988	P;P;P;P	0.62649	0.77;0.846;0.732;0.905	T	0.61860	-0.6976	10	0.42905	T	0.14	-17.5973	14.591	0.68365	0.0:0.0:0.0:1.0	.	212;200;213;200	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	P	200;212;37;37;186;213;172	ENSP00000445495:S200P;ENSP00000444160:S212P;ENSP00000448074:S37P;ENSP00000448137:S37P;ENSP00000446529:S186P;ENSP00000301050:S213P;ENSP00000448304:S172P	ENSP00000301050:S213P	S	+	1	0	CACNB3	47505714	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.994000	0.88315	2.087000	0.62958	0.460000	0.39030	TCC		0.562	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			16	93	0	0	0	1	0	16	93				
SCN9A	6335	broad.mit.edu	37	2	167056037	167056037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:167056037delT	ENST00000409435.1	-	26	5111	c.5112delA	c.(5110-5112)ctafs	p.L1704fs	SCN9A_ENST00000375387.4_Frame_Shift_Del_p.L1705fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.L1705fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.L1693fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1704					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATAGGTGCTAGCAATCCAT	0.423																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5113-5115)ctfs		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						194.0	207.0	202.0					2																	167056037		2203	4300	6503	SO:0001589	frameshift_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056037delT	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5112delA	2.37:g.167056037delT	ENSP00000386330:p.Leu1704fs					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.L1693fs|SCN9A_ENST00000409435.1_Frame_Shift_Del_p.L1704fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.L1705fs	p.L1705fs			Q15858	SCN9A_HUMAN			27	5455	-			1704					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	ENST00000409435.1	37	c.5115delA	CCDS46441.1																																																																																				0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		12	214						12	214	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52610666	52610666	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr3:52610666delG	ENST00000296302.7	-	22	3583	c.3582delC	c.(3580-3582)cccfs	p.P1194fs	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.P1162fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.P1209fs			Q86U86	PB1_HUMAN	polybromo 1	1194	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAATGAAGATGGGGCCATAAA	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3484-3486)ccfs		polybromo 1							108.0	105.0	106.0					3																	52610666		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52610666delG	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3582delC	3.37:g.52610666delG	ENSP00000296302:p.Pro1194fs					PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1169fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.P1194fs	p.P1162fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	3488	-			1194			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.3486delC																																																																																					0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		32	40						32	40	---	---	---	---
LINC01378	103689918	broad.mit.edu	37	4	118496039	118496040	+	lincRNA	INS	-	-	A	rs375830371		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr4:118496039_118496040insA	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							TCTTTTTTTTTAATGGGTTAGA	0.342																																						ENST00000422145.3																			0																																																			0							g.chr4:118496039_118496040insA																													4.37:g.118496041_118496041dupA						NT5C3AP1_ENST00000441170.1_RNA								0	159	+									RNA	INS	ENST00000422145.3	37																																																																																						0.342	AC092661.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000291362.3			4	3						4	3	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			3	4						3	4	---	---	---	---
LTB	4050	broad.mit.edu	37	6	31548718	31548718	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr6:31548718delC	ENST00000429299.2	-	4	510	c.503delG	c.(502-504)ggcfs	p.G168fs	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	168					cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|signal transduction (GO:0007165)|skin development (GO:0043588)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						CCCGTAGGCGCCCCCCGCCCG	0.751																																						ENST00000429299.2																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(502-504)gcfs		lymphotoxin beta (TNF superfamily, member 3)	Infliximab(DB00065)|Simvastatin(DB00641)		,	14,2782		3,8,1387	4.0	5.0	4.0		,	1.6	1.0	6		4	22,5460		1,20,2720	no	utr-3,frameshift	LTB	NM_009588.1,NM_002341.1	,	4,28,4107	A1A1,A1R,RR		0.4013,0.5007,0.4349	,	,	31548718	36,8242	1409	2539	3948	SO:0001589	frameshift_variant	4050				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31548718delC	L11015	CCDS4703.1, CCDS4704.1	6p21.3	2013-05-22			ENSG00000227507	ENSG00000227507		"""Tumor necrosis factor (ligand) superfamily"""	6711	protein-coding gene	gene with protein product		600978		TNFC		7916655, 1714477	Standard	NM_002341		Approved	p33, TNFSF3	uc003nuk.3	Q06643	OTTHUMG00000031136	ENST00000429299.2:c.503delG	6.37:g.31548718delC	ENSP00000410481:p.Gly168fs					LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	p.G168fs	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN			4	510	-			168					P78370|Q52LU8|Q99761	Frame_Shift_Del	DEL	ENST00000429299.2	37	c.503delG	CCDS4703.1																																																																																				0.751	LTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076239.3			2	4						2	4	---	---	---	---
C9orf3	84909	broad.mit.edu	37	9	97535395	97535397	+	In_Frame_Del	DEL	TTT	TTT	-	rs151071633	byFrequency	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr9:97535395_97535397delTTT	ENST00000375315.2	+	2	909_911	c.909_911delTTT	c.(907-912)tctttt>tct	p.F304del	C9orf3_ENST00000297979.5_In_Frame_Del_p.F304del|C9orf3_ENST00000277198.2_In_Frame_Del_p.F304del	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	304					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAGCTGCATCTTTTGTTGTTTTA	0.463																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(907-912)tct>tc		chromosome 9 open reading frame 3																																				SO:0001651	inframe_deletion	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97535395_97535397delTTT	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.909_911delTTT	9.37:g.97535395_97535397delTTT	ENSP00000364464:p.Phe304del					C9orf3_ENST00000297979.5_In_Frame_Del_p.SF303del|C9orf3_ENST00000277198.2_In_Frame_Del_p.SF303del	p.SF303del	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	2	909_911	+			303					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	In_Frame_Del	DEL	ENST00000375315.2	37	c.909_911delTTT	CCDS55328.1																																																																																				0.463	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		71	84						71	84	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1031058	1031059	+	Splice_Site	INS	-	-	G	rs71464128	byFrequency	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:1031058_1031059insG	ENST00000421673.2	-	6	625		c.e6-2			NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACTTGCCTGGGGTGCAGAA	0.703													GGGGG|GGGG|GGGGG|deletion	644	0.128594	0.348	0.0879	5008	,	,		7216	0.002		0.0895	False		,,,				2504	0.0317					ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e6-2		mucin 6, oligomeric mucus/gel-forming				1070,2502		189,692,905						2.3	0.8		dbSNP_130	29	606,7194		45,516,3339	no	splice-3	MUC6	NM_005961.2		234,1208,4244	A1A1,A1R,RR		7.7692,29.9552,14.738				1676,9696				SO:0001630	splice_region_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1031058_1031059insG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.575-2->C	11.37:g.1031062_1031062dupG								NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	625	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)						O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Splice_Site	INS	ENST00000421673.2	37		CCDS44513.1																																																																																				0.703	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	Intron	4	5						4	5	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		10	404						10	404	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8784233	8784243	+	Frame_Shift_Del	DEL	CTGGGGCTGCG	CTGGGGCTGCG	-	rs374013815|rs576976861		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr18:8784233_8784243delCTGGGGCTGCG	ENST00000306329.11	+	5	2203_2213	c.2203_2213delCTGGGGCTGCG	c.(2203-2214)ctggggctgcgtfs	p.LGLR735fs	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Frame_Shift_Del_p.LGLR375fs|SOGA2_ENST00000517570.1_Frame_Shift_Del_p.LGLR375fs|SOGA2_ENST00000400050.3_Frame_Shift_Del_p.LGLR375fs																							GGCAGCCCACCTGGGGCTGCGTGCCCCCAGT	0.673																																						ENST00000359865.3																			0											c.(1123-1134)tfs		SOGA family member 2																																				SO:0001589	frameshift_variant	23255							g.chr18:8784233_8784243delCTGGGGCTGCG																												ENST00000306329.11:c.2203_2213delCTGGGGCTGCG	18.37:g.8784233_8784243delCTGGGGCTGCG	ENSP00000305027:p.Leu735fs					SOGA2_ENST00000517570.1_Frame_Shift_Del_p.LGLR375fs|SOGA2_ENST00000400050.3_Frame_Shift_Del_p.LGLR375fs|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Frame_Shift_Del_p.LGLR735fs	p.LGLR375fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	1265_1275	+			726						Frame_Shift_Del	DEL	ENST00000306329.11	37	c.1123_1133delCTGGGGCTGCG																																																																																					0.673	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			7	43						7	43	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		3	4						3	4	---	---	---	---
