#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
CLEC14A	161198	broad.mit.edu	37	14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	ENST00000342213.2	-	1	840	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682																																						ENST00000342213.2																			1	Substitution - Missense(1)	p.R165L(1)	prostate(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(493-495)cGc>cTc		C-type lectin domain family 14, member A							44.0	39.0	40.0					14																	38724734		2200	4289	6489	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724734C>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.494G>T	14.37:g.38724734C>A	ENSP00000353013:p.Arg165Leu						p.R165L	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	840	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		165			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.494G>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330038	0.60743	.	.	ENSG00000176435	ENST00000342213	T	0.53857	0.6	3.91	2.04	0.26737	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.212421	0.30940	N	0.008579	T	0.31231	0.0790	L	0.38175	1.15	0.33080	D	0.536462	P	0.38565	0.637	B	0.28709	0.093	T	0.42849	-0.9427	10	0.59425	D	0.04	-20.1422	3.3834	0.07262	0.2052:0.5816:0.0:0.2132	.	165	Q86T13	CLC14_HUMAN	L	165	ENSP00000353013:R165L	ENSP00000353013:R165L	R	-	2	0	CLEC14A	37794485	0.893000	0.30496	0.991000	0.47740	0.746000	0.42486	1.259000	0.32956	0.597000	0.29811	0.591000	0.81541	CGC		0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		16	52	1	0	5.35047e-06	0.083992	6.50288e-06	16	52				
ZNF423	23090	broad.mit.edu	37	16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1063					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1063F(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627																																						ENST00000561648.1																			3	Substitution - Missense(3)	p.L1063F(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3187-3189)Ctc>Ttc		zinc finger protein 423							36.0	34.0	35.0					16																	49669876		2199	4299	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669876G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3187C>T	16.37:g.49669876G>A	ENSP00000455426:p.Leu1063Phe					ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F	p.L1063F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3240	-		all_cancers(37;0.0155)	1063					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3187C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011931	0.35511	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10860	2.83;2.89	5.1	5.1	0.69264	.	0.129173	0.52532	D	0.000062	T	0.07773	0.0195	N	0.19112	0.55	0.39982	D	0.974931	B	0.10296	0.003	B	0.15052	0.012	T	0.31998	-0.9923	9	.	.	.	-33.2386	13.5039	0.61474	0.0:0.0:0.844:0.156	.	1063	Q2M1K9	ZN423_HUMAN	F	1063;946	ENSP00000262383:L1063F;ENSP00000442321:L946F	.	L	-	1	0	ZNF423	48227377	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.381000	0.52455	2.390000	0.81377	0.561000	0.74099	CTC		0.627	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		3	28	0	0	0	0.009096	0	3	28				
PRPS1L1	221823	broad.mit.edu	37	7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	ENST00000506618.2	-	1	246	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	56					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V56I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488																																						ENST00000506618.2																			2	Substitution - Missense(2)	p.V56I(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(166-168)Gtt>Att		phosphoribosyl pyrophosphate synthetase 1-like 1							366.0	354.0	358.0					7																	18067240		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067240C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.166G>A	7.37:g.18067240C>T	ENSP00000424595:p.Val56Ile						p.V56I	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	246	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		56					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.166G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.300561	0.01364	.	.	ENSG00000229937	ENST00000506618	D	0.91577	-2.87	4.4	-1.89	0.07689	.	.	.	.	.	T	0.71213	0.3313	N	0.05330	-0.07	.	.	.	B	0.09022	0.002	B	0.11329	0.006	T	0.63180	-0.6695	8	0.02654	T	1	.	1.9455	0.03355	0.1301:0.4204:0.1276:0.3219	.	56	P21108	PRPS3_HUMAN	I	56	ENSP00000424595:V56I	ENSP00000424595:V56I	V	-	1	0	PRPS1L1	18033765	0.634000	0.27190	0.009000	0.14445	0.718000	0.41266	1.315000	0.33608	-0.268000	0.09312	-0.808000	0.03180	GTT		0.488	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		9	533	0	0	0	0.058154	0	9	533				
TFAP2D	83741	broad.mit.edu	37	6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	ENST00000008391.3	+	8	1441	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.M405V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478																																						ENST00000008391.3																			1	Substitution - Missense(1)	p.M405V(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1213-1215)Atg>Gtg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							69.0	66.0	67.0					6																	50740431		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740431A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1213A>G	6.37:g.50740431A>G	ENSP00000008391:p.Met405Val						p.M405V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1441	+	Lung NSC(77;0.0334)		405			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1213A>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457655	0.63401	.	.	ENSG00000008197	ENST00000008391	D	0.96136	-3.92	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	L	0.59436	1.845	0.80722	D	1	P	0.38440	0.631	B	0.43360	0.417	D	0.94691	0.7874	10	0.72032	D	0.01	-16.8175	15.5329	0.75977	1.0:0.0:0.0:0.0	.	405	Q7Z6R9	AP2D_HUMAN	V	405	ENSP00000008391:M405V	ENSP00000008391:M405V	M	+	1	0	TFAP2D	50848390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.083000	0.62718	0.383000	0.25322	ATG		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		33	94	0	0	0	0.050027	0	33	94				
GRM3	2913	broad.mit.edu	37	7	86415634	86415634	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:86415634G>A	ENST00000361669.2	+	3	1625	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	176					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.A176T(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATCCACCAGCGCCAAACTCAG	0.552																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			2	Substitution - Missense(2)	p.A176T(2)	prostate(1)|breast(1)	NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(526-528)Gcc>Acc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						140.0	140.0	140.0					7																	86415634		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415634G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.526G>A	7.37:g.86415634G>A	ENSP00000355316:p.Ala176Thr					GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T	p.A176T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1625	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		176					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.526G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206226	0.95033	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.65573	0.895;0.923;0.936	D	0.90679	0.4604	10	0.45353	T	0.12	.	19.122	0.93367	0.0:0.0:1.0:0.0	.	48;176;176	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	176;48;48;176;174	ENSP00000355316:A176T;ENSP00000405427:A48T;ENSP00000441407:A48T;ENSP00000398767:A176T;ENSP00000378209:A174T	ENSP00000355316:A176T	A	+	1	0	GRM3	86253570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	2.770000	0.95276	0.655000	0.94253	GCC		0.552	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			6	353	0	0	0	0.021553	0	6	353				
NUCB2	4925	broad.mit.edu	37	11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	199						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.K199T(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303																																						ENST00000529010.1																			1	Substitution - Missense(1)	p.K199T(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(595-597)aAg>aCg		nucleobindin 2							71.0	73.0	72.0					11																	17332484		1792	4035	5827	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332484A>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.596A>C	11.37:g.17332484A>C	ENSP00000436455:p.Lys199Thr					NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T	p.K199T	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			7	815	+			199					A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.596A>C	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.441275|4.441275	0.83993|0.83993	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000527580|ENST00000323688;ENST00000529010;ENST00000458064	.|T;T;T	.|0.19394	.|2.15;2.15;2.15	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.093142|0.093142	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.44850|0.44850	0.1313|0.1313	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.74023	.|0.982;0.953;0.953	T|T	0.30416|0.30416	-0.9979|-0.9979	6|10	.|0.54805	.|T	.|0.06	-18.6833|-18.6833	16.3721|16.3721	0.83368|0.83368	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|199;199;199	.|E7EV42;P80303;D3DQX5	.|.;NUCB2_HUMAN;.	N|T	6|199	.|ENSP00000320168:K199T;ENSP00000436455:K199T;ENSP00000408702:K199T	.|ENSP00000320168:K199T	K|K	+|+	3|2	2|0	NUCB2|NUCB2	17289060|17289060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.352000|5.352000	0.66028|0.66028	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.303	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		6	299	0	0	0	0.021553	0	6	299				
CD226	10666	broad.mit.edu	37	18	67614065	67614065	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr18:67614065C>G	ENST00000280200.4	-	3	555	c.287G>C	c.(286-288)cGg>cCg	p.R96P	CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	96	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.R96P(1)|p.R96L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGAGGCATTCCGAAAGAAAAG	0.448																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			2	Substitution - Missense(2)	p.R96P(1)|p.R96L(1)	prostate(1)|lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(286-288)cGg>cCg		CD226 molecule							116.0	104.0	108.0					18																	67614065		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67614065C>G	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.287G>C	18.37:g.67614065C>G	ENSP00000280200:p.Arg96Pro					CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P	p.R96P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			3	555	-		Esophageal squamous(42;0.129)	96			Ig-like C2-type 1.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.287G>C	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474227	0.26423	.	.	ENSG00000150637	ENST00000280200	T	0.66638	-0.22	5.51	4.36	0.52297	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.637967	0.16677	N	0.204083	T	0.61426	0.2346	L	0.46157	1.445	0.19945	N	0.999942	P	0.51240	0.943	P	0.46585	0.521	T	0.52313	-0.8592	10	0.37606	T	0.19	.	7.8306	0.29340	0.0:0.0968:0.0:0.9032	.	96	Q15762	CD226_HUMAN	P	96	ENSP00000280200:R96P	ENSP00000280200:R96P	R	-	2	0	CD226	65765045	0.003000	0.15002	0.290000	0.24890	0.048000	0.14542	-0.048000	0.11944	1.043000	0.40175	-0.302000	0.09304	CGG		0.448	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		52	108	0	0	0	0.139131	0	52	108				
MAGEA6	4105	broad.mit.edu	37	X	151869728	151869728	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chrX:151869728G>A	ENST00000329342.5	+	3	643	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	140	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V140I(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTGTCGTCGGAAATTG	0.527																																						ENST00000329342.5																			2	Substitution - Missense(2)	p.V140I(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(418-420)Gtc>Atc		melanoma antigen family A, 6							157.0	141.0	146.0					X																	151869728		2202	4299	6501	SO:0001583	missense	4105						protein binding	g.chrX:151869728G>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.418G>A	X.37:g.151869728G>A	ENSP00000329199:p.Val140Ile						p.V140I	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	643	+	Acute lymphoblastic leukemia(192;6.56e-05)		140			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.418G>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.610108	0.00121	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04156	3.69;3.69;3.69	0.605	-1.21	0.09524	.	1.395860	0.04188	N	0.327699	T	0.01189	0.0039	N	0.00468	-1.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	9	0.02654	T	1	.	.	.	.	.	140	P43360	MAGA6_HUMAN	I	140	ENSP00000329199:V140I;ENSP00000403303:V140I;ENSP00000401806:V140I	ENSP00000329199:V140I	V	+	1	0	MAGEA6	151620384	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.436000	0.06922	-0.429000	0.07329	-1.553000	0.00894	GTC		0.527	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		4	150	0	0	0	0.014758	0	4	150				
TBC1D2	55357	broad.mit.edu	37	9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	ENST00000375064.1	-	4	727	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000375066.5_Missense_Mutation_p.G230E|TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	230					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.G230E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.G230E(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(688-690)gGa>gAa		TBC1 domain family, member 2							205.0	186.0	192.0					9																	100995790		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100995790C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.689G>A	9.37:g.100995790C>T	ENSP00000364205:p.Gly230Glu					TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E	p.G230E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	4	780	-		Myeloproliferative disorder(762;0.0255)	230					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.689G>A		.	.	.	.	.	.	.	.	.	.	C	1.561	-0.536683	0.04082	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.06933	3.53;3.24;3.57	4.78	2.9	0.33743	.	0.228731	0.36303	N	0.002676	T	0.07999	0.0200	L	0.37750	1.13	0.21719	N	0.999574	B;P	0.36990	0.307;0.577	B;B	0.34301	0.037;0.179	T	0.10109	-1.0644	10	0.72032	D	0.01	.	13.4131	0.60954	0.0:0.6885:0.3115:0.0	.	230;230	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	E	230;230;12	ENSP00000364205:G230E;ENSP00000364207:G230E;ENSP00000341567:G12E	ENSP00000341567:G12E	G	-	2	0	TBC1D2	100035611	0.218000	0.23608	0.024000	0.17045	0.229000	0.25112	1.397000	0.34543	0.222000	0.20900	-0.795000	0.03280	GGA		0.587	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		24	245	0	0	0	0.108266	0	24	245				
AKAP9	10142	broad.mit.edu	37	7	91631337	91631337	+	Silent	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	714	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)	p.L714L(1)|p.L702L(1)	prostate(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2140-2142)ctA>ctG		A kinase (PRKA) anchor protein 9							23.0	25.0	24.0					7																	91631337		1966	4156	6122	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631337A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2142A>G	7.37:g.91631337A>G						AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L	p.L714L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2367	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		714			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.2142A>G																																																																																					0.289	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	101	0	0	0	0.115264	0	3	101				
LAMB4	22798	broad.mit.edu	37	7	107674715	107674715	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:107674715C>T	ENST00000388781.3	-	31	4839	c.4756G>A	c.(4756-4758)Gca>Aca	p.A1586T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|AC005048.1_ENST00000401266.1_RNA|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1586	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1586T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGAGTTTGCCCGTCCTTGA	0.333																																						ENST00000388781.3																			1	Substitution - Missense(1)	p.A1586T(1)	prostate(1)	NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4756-4758)Gca>Aca		laminin, beta 4							289.0	273.0	278.0					7																	107674715		2201	4300	6501	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107674715C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4756G>A	7.37:g.107674715C>T	ENSP00000373433:p.Ala1586Thr					LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|LAMB4_ENST00000483484.1_5'UTR	p.A1586T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			31	4839	-			1586			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4756G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391166	0.11581	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.78816	1.11;1.11;-1.21;1.13	5.3	3.45	0.39498	.	0.449602	0.18608	N	0.136246	T	0.68467	0.3004	N	0.22421	0.69	0.09310	N	0.999998	P;B	0.42941	0.794;0.079	P;B	0.46659	0.523;0.031	T	0.60255	-0.7299	10	0.66056	D	0.02	.	7.3105	0.26471	0.0:0.7954:0.0:0.2046	.	1586;1586	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1586;1586;612;1586	ENSP00000205386:A1586T;ENSP00000373433:A1586T;ENSP00000416562:A612T;ENSP00000373432:A1586T	ENSP00000205386:A1586T	A	-	1	0	LAMB4	107461951	0.099000	0.21834	0.005000	0.12908	0.025000	0.11179	0.106000	0.15354	0.758000	0.33059	0.655000	0.94253	GCA		0.333	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		6	295	0	0	0	0.021553	0	6	295				
MGAM	8972	broad.mit.edu	37	7	141727465	141727465	+	Missense_Mutation	SNP	G	G	A	rs537674844		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:141727465G>A	ENST00000549489.2	+	10	1246	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	MGAM_ENST00000475668.2_Missense_Mutation_p.R384H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R384H(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTCAGTCGTTACGAATAT	0.453													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16083	0.0		0.0	False		,,,				2504	0.0					ENST00000475668.2																			4	Substitution - Missense(4)	p.R384H(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1150-1152)cGt>cAt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						63.0	62.0	62.0					7																	141727465		1860	4106	5966	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727465G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1151G>A	7.37:g.141727465G>A	ENSP00000447378:p.Arg384His					MGAM_ENST00000549489.2_Missense_Mutation_p.R384H	p.R384H			O43451	MGA_HUMAN			10	1205	+	Melanoma(164;0.0272)		384			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1151G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084112	0.94100	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92699	-3.09	5.55	5.55	0.83447	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000045	D	0.97739	0.9258	H	0.97783	4.075	0.44798	D	0.997804	D	0.89917	1.0	D	0.97110	1.0	D	0.98652	1.0680	10	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	384	O43451	MGA_HUMAN	H	384;384;261	ENSP00000447378:R384H	ENSP00000316431:R261H	R	+	2	0	MGAM	141373934	1.000000	0.71417	0.871000	0.34182	0.734000	0.41952	9.176000	0.94839	2.885000	0.99019	0.655000	0.94253	CGT		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	81	0	0	0	0.047766	0	8	81				
CNNM4	26504	broad.mit.edu	37	2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	600					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.H600N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567																																						ENST00000377075.2																			1	Substitution - Missense(1)	p.H600N(1)	prostate(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1798-1800)Cat>Aat		cyclin M4							91.0	83.0	86.0					2																	97464910		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464910C>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1798C>A	2.37:g.97464910C>A	ENSP00000366275:p.His600Asn					CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N	p.H600N	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1896	+			600					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1798C>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732014	0.48939	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.40756	1.02	5.02	4.09	0.47781	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.107964	0.64402	D	0.000008	T	0.31482	0.0798	L	0.35414	1.06	0.42041	D	0.991073	B;B	0.32781	0.384;0.219	B;B	0.31869	0.137;0.126	T	0.14420	-1.0473	10	0.37606	T	0.19	-2.8035	12.5146	0.56026	0.2683:0.7317:0.0:0.0	.	87;600	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	N	600;87	ENSP00000366275:H600N	ENSP00000366275:H600N	H	+	1	0	CNNM4	96828637	0.998000	0.40836	0.895000	0.35142	0.798000	0.45092	3.881000	0.56152	2.492000	0.84095	0.561000	0.74099	CAT		0.567	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	94	1	0	0.0477658	0.047766	0.0509932	9	94				
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			1	Substitution - Missense(1)	p.R545W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1633-1635)Cgg>Tgg		mannosidase, alpha, class 1A, member 1							193.0	190.0	191.0					6																	119509656		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119509656G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1633C>T	6.37:g.119509656G>A	ENSP00000357453:p.Arg545Trp						p.R545W	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2074	-		all_epithelial(87;0.173)	545					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1633C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	MAN1A1	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG		0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		6	342	0	0	0	0.021553	0	6	342				
KIAA1551	55196	broad.mit.edu	37	12	32135028	32135028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:32135028C>A	ENST00000312561.4	+	4	1553	c.1139C>A	c.(1138-1140)tCa>tAa	p.S380*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	380								p.S380*(1)									AATCCAACTTCAAATCAAGTA	0.348																																						ENST00000312561.4																			1	Substitution - Nonsense(1)	p.S380*(1)	prostate(1)								c.(1138-1140)tCa>tAa		KIAA1551							73.0	80.0	78.0					12																	32135028		2203	4300	6503	SO:0001587	stop_gained	55196							g.chr12:32135028C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1139C>A	12.37:g.32135028C>A	ENSP00000310338:p.Ser380*					KIAA1551_ENST00000535596.1_Intron	p.S380*	NM_018169.3	NP_060639.3					4	1553	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	ENST00000312561.4	37	c.1139C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	40	8.372704	0.98781	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	5.02	4.12	0.48240	.	0.835561	0.10212	N	0.702031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0536	0.14522	0.0:0.6467:0.1888:0.1645	.	.	.	.	X	380	.	.	S	+	2	0	C12orf35	32026295	0.001000	0.12720	0.062000	0.19696	0.757000	0.42996	0.519000	0.22862	2.484000	0.83849	0.455000	0.32223	TCA		0.348	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		5	212	1	0	0.0293803	0.029380	0.0317952	5	212				
SIGLEC1	6614	broad.mit.edu	37	20	3678583	3678583	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr20:3678583G>A	ENST00000344754.4	-	8	1983	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	662	Ig-like C2-type 6.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R662C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTTCATGCGTGGGGAACAG	0.627																																						ENST00000344754.4																			1	Substitution - Missense(1)	p.R662C(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1984-1986)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin							58.0	50.0	53.0					20																	3678583		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3678583G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1984C>T	20.37:g.3678583G>A	ENSP00000341141:p.Arg662Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C	p.R662C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			8	1983	-			662			Ig-like C2-type 6.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1984C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904077	0.72754	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.80214	-1.35;-1.35	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.191412	0.26096	N	0.026376	D	0.90484	0.7019	M	0.88570	2.965	0.18873	N	0.999984	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.983	D	0.84014	0.0350	10	0.38643	T	0.18	.	14.8575	0.70351	0.0:0.0:1.0:0.0	.	662;662	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	662	ENSP00000341141:R662C;ENSP00000202578:R662C	ENSP00000202578:R662C	R	-	1	0	SIGLEC1	3626583	0.188000	0.23250	0.025000	0.17156	0.986000	0.74619	2.810000	0.47979	2.884000	0.98904	0.655000	0.94253	CGC		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		9	97	0	0	0	0.069234	0	9	97				
LGSN	51557	broad.mit.edu	37	6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	ENST00000370657.4	-	4	1190	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	386					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.Y386C(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGTCATTGTATCCCCATGT	0.468																																						ENST00000370657.4																			2	Substitution - Missense(2)	p.Y386C(2)	prostate(2)	NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1156-1158)tAc>tGc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						172.0	172.0	172.0					6																	63990299		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990299T>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1157A>G	6.37:g.63990299T>C	ENSP00000359691:p.Tyr386Cys					LGSN_ENST00000370658.5_3'UTR	p.Y386C			Q5TDP6	LGSN_HUMAN			4	1190	-			386					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1157A>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	3.889	-0.024376	0.07634	.	.	ENSG00000146166	ENST00000370657	D	0.86030	-2.06	5.86	4.69	0.59074	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.100250	0.64402	D	0.000001	T	0.67505	0.2900	L	0.33245	0.995	0.80722	D	1	B	0.21753	0.06	B	0.30105	0.111	T	0.64960	-0.6284	10	0.38643	T	0.18	-17.2712	9.846	0.41028	0.2733:0.0:0.0:0.7267	.	386	Q5TDP6	LGSN_HUMAN	C	386	ENSP00000359691:Y386C	ENSP00000359691:Y386C	Y	-	2	0	LGSN	64048258	1.000000	0.71417	0.503000	0.27626	0.115000	0.19883	1.837000	0.39201	1.025000	0.39708	0.533000	0.62120	TAC		0.468	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		132	299	0	0	0	0.139131	0	132	299				
FRAS1	80144	broad.mit.edu	37	4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	ENST00000264895.6	+	72	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3717					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418																																						ENST00000264895.6																			3	Substitution - Missense(3)	p.L3721Q(2)|p.L3722Q(1)	prostate(3)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11161-11163)cTg>cAg		Fraser syndrome 1							133.0	131.0	132.0					4																	79458218		1831	4092	5923	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79458218T>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11162T>A	4.37:g.79458218T>A	ENSP00000264895:p.Leu3721Gln						p.L3721Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			72	11602	+			3716					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11162T>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859440	0.91433	.	.	ENSG00000138759	ENST00000264895	T	0.64438	-0.1	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.76870	0.4048	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78886	-0.2027	10	0.87932	D	0	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	3721	E9PHH6	.	Q	3721	ENSP00000264895:L3721Q	ENSP00000264895:L3721Q	L	+	2	0	FRAS1	79677242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	2.267000	0.75376	0.477000	0.44152	CTG		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	238	0	0	0	0.059317	0	32	238				
PNMAL1	55228	broad.mit.edu	37	19	46973938	46973938	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:46973938G>A	ENST00000313683.10	-	2	660	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	119								p.R119C(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcccaggtgcgcccctcggca	0.582																																						ENST00000313683.10																			2	Substitution - Missense(2)	p.R119C(2)	prostate(2)	cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(355-357)Cgc>Tgc		paraneoplastic Ma antigen family-like 1							43.0	46.0	45.0					19																	46973938		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46973938G>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.355C>T	19.37:g.46973938G>A	ENSP00000318131:p.Arg119Cys					PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C|PNMAL1_ENST00000602246.1_Intron	p.R119C	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	660	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	119					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.355C>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884521	0.72410	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.11821	2.74;2.74	3.36	3.36	0.38483	.	0.000000	0.36854	N	0.002368	T	0.33059	0.0850	M	0.72894	2.215	0.45777	D	0.998666	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.06534	-1.0821	10	0.87932	D	0	-10.9945	10.5182	0.44903	0.0:0.0:1.0:0.0	.	119;119	Q86V59-2;Q86V59	.;PNML1_HUMAN	C	119	ENSP00000410273:R119C;ENSP00000318131:R119C	ENSP00000318131:R119C	R	-	1	0	PNMAL1	51665778	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.523000	0.45580	2.185000	0.69588	0.655000	0.94253	CGC		0.582	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		19	135	0	0	0	0.055883	0	19	135				
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	ENST00000356287.3	-	16	2047	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000405093.3_Missense_Mutation_p.R673H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.R673H(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2017-2019)cGt>cAt		myosin, heavy chain 6, cardiac muscle, alpha							167.0	159.0	161.0					14																	23866411		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866411C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2018G>A	14.37:g.23866411C>T	ENSP00000348634:p.Arg673His					MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	17	2088	-	all_cancers(95;2.54e-05)		673			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2018G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.865066	0.91511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90620	-2.7;-2.7	4.26	4.26	0.50523	Myosin head, motor domain (2);	.	.	.	.	D	0.97813	0.9282	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	9	0.87932	D	0	.	17.2018	0.86908	0.0:1.0:0.0:0.0	.	673	P13533	MYH6_HUMAN	H	673	ENSP00000386041:R673H;ENSP00000348634:R673H	ENSP00000348634:R673H	R	-	2	0	MYH6	22936251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.219000	0.78000	2.382000	0.81193	0.650000	0.86243	CGT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			7	305	0	0	0	0.038147	0	7	305				
SPEN	23013	broad.mit.edu	37	1	16257158	16257158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:16257158C>T	ENST00000375759.3	+	11	4627	c.4423C>T	c.(4423-4425)Cga>Tga	p.R1475*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1475					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R1475*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAAATTTTCGAAACAACAA	0.378																																						ENST00000375759.3																			1	Substitution - Nonsense(1)	p.R1475*(1)	prostate(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4423-4425)Cga>Tga		spen family transcriptional repressor							59.0	64.0	62.0					1																	16257158		2197	4300	6497	SO:0001587	stop_gained	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257158C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4423C>T	1.37:g.16257158C>T	ENSP00000364912:p.Arg1475*						p.R1475*	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4627	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1475					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	ENST00000375759.3	37	c.4423C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	43	10.042744	0.99324	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.27	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5555	14.2233	0.65843	0.2362:0.7638:0.0:0.0	.	.	.	.	X	1475	.	ENSP00000364912:R1475X	R	+	1	2	SPEN	16129745	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.727000	0.54984	2.746000	0.94184	0.563000	0.77884	CGA		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		12	172	0	0	0	0.080935	0	12	172				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	37	0	0	0	0.115264	0	3	37				
MIIP	60672	broad.mit.edu	37	1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	304								p.F304C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697																																						ENST00000235332.4																			1	Substitution - Missense(1)	p.F304C(1)	prostate(1)	autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(910-912)tTt>tGt		migration and invasion inhibitory protein							43.0	51.0	48.0					1																	12090150		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12090150T>G	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.911T>G	1.37:g.12090150T>G	ENSP00000235332:p.Phe304Cys					MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	p.F304C	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN			8	1080	+			304					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.911T>G	CCDS143.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951322	0.34471	.	.	ENSG00000116691	ENST00000235332	T	0.23950	1.88	4.99	2.62	0.31277	.	0.316577	0.28414	N	0.015435	T	0.41096	0.1144	M	0.78801	2.425	0.36009	D	0.837894	D	0.71674	0.998	P	0.61592	0.891	T	0.50127	-0.8864	10	0.87932	D	0	-5.9258	3.6397	0.08162	0.1932:0.1027:0.0:0.7041	.	304	Q5JXC2	MIIP_HUMAN	C	304	ENSP00000235332:F304C	ENSP00000235332:F304C	F	+	2	0	MIIP	12012737	0.988000	0.35896	0.860000	0.33809	0.093000	0.18481	2.205000	0.42770	0.709000	0.31976	0.254000	0.18369	TTT		0.697	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		14	38	0	0	0	0.132662	0	14	38				
PRSS50	29122	broad.mit.edu	37	3	46755773	46755773	+	Missense_Mutation	SNP	G	G	A	rs139823108	byFrequency	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:46755773G>A	ENST00000460241.1	-	9	2359	c.689C>T	c.(688-690)aCg>aTg	p.T230M	PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M			Q9UI38	TSP50_HUMAN	protease, serine, 50	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.T230M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACATAGTCCGTGCCAGGCAG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		20845	0.002		0.0	False		,,,				2504	0.0				Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Substitution - Missense(1)	p.T230M(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(688-690)aCg>aTg		protease, serine, 50							125.0	93.0	104.0					3																	46755773		2203	4300	6503	SO:0001583	missense	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46755773G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.689C>T	3.37:g.46755773G>A	ENSP00000418875:p.Thr230Met					PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M	p.T230M			Q9UI38	TSP50_HUMAN			9	2359	-			230			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.689C>T	CCDS2745.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.086	0.773410	0.16051	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.89415	-2.51;-2.51	3.6	-3.19	0.05171	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.005580	0.03382	N	0.200573	D	0.82360	0.5020	L	0.49126	1.545	0.09310	N	1	B	0.31625	0.332	B	0.17722	0.019	T	0.67397	-0.5681	10	0.46703	T	0.11	.	4.9345	0.13934	0.5301:0.1573:0.3126:0.0	.	230	Q9UI38	TSP50_HUMAN	M	144;230;230	ENSP00000326598:T230M;ENSP00000418875:T230M	ENSP00000326598:T230M	T	-	2	0	PRSS50	46730777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.416000	0.07097	-0.616000	0.05671	-2.739000	0.00128	ACG		0.602	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			4	47	0	0	0	0.009096	0	4	47				
TMEM5	10329	broad.mit.edu	37	12	64173824	64173824	+	Silent	SNP	C	C	T	rs200123669		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	ENST00000261234.6	+	1	242	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'Flank	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	28						integral component of plasma membrane (GO:0005887)		p.F28F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8951	0.0		0.0	False		,,,				2504	0.0					ENST00000261234.6																			1	Substitution - coding silent(1)	p.F28F(1)	prostate(1)	breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(82-84)ttC>ttT		transmembrane protein 5		C		1,4401	2.1+/-5.4	0,1,2200	33.0	32.0	32.0		84	-0.9	1.0	12		32	0,8600		0,0,4300	no	coding-synonymous	TMEM5	NM_014254.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		28/444	64173824	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	10329					integral to plasma membrane		g.chr12:64173824C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.84C>T	12.37:g.64173824C>T						RP11-415I12.3_ENST00000509615.2_RNA	p.F28F	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	1	242	+		Myeloproliferative disorder(1001;0.0255)	28					A8K017|Q6PKD6	Silent	SNP	ENST00000261234.6	37	c.84C>T	CCDS8966.1																																																																																				0.716	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		3	29	0	0	0	0.009096	0	3	29				
UNC80	285175	broad.mit.edu	37	2	210658516	210658516	+	Nonsense_Mutation	SNP	C	C	T	rs201978349		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:210658516C>T	ENST00000439458.1	+	7	951	c.871C>T	c.(871-873)Cga>Tga	p.R291*	UNC80_ENST00000272845.6_Nonsense_Mutation_p.R291*|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	291					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R291*(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGGCTGTCACCGAGGAAACTC	0.488																																						ENST00000439458.1																			2	Substitution - Nonsense(2)	p.R291*(2)	prostate(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(871-873)Cga>Tga		unc-80 homolog (C. elegans)							114.0	103.0	107.0					2																	210658516		2203	4300	6503	SO:0001587	stop_gained	285175					integral to membrane		g.chr2:210658516C>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.871C>T	2.37:g.210658516C>T	ENSP00000391088:p.Arg291*					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Nonsense_Mutation_p.R291*	p.R291*	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			7	951	+			291					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Nonsense_Mutation	SNP	ENST00000439458.1	37	c.871C>T	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	37	5.989113	0.97179	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	.	.	.	5.11	4.21	0.49690	.	0.275448	0.34156	N	0.004212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8363	0.52325	0.3181:0.6819:0.0:0.0	.	.	.	.	X	291	.	ENSP00000272845:R291X	R	+	1	2	UNC80	210366761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.299000	0.51826	1.232000	0.43678	0.655000	0.94253	CGA		0.488	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		40	123	0	0	0	0.086207	0	40	123				
PARL	55486	broad.mit.edu	37	3	183547482	183547482	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423																																						ENST00000317096.4																			1	Substitution - coding silent(1)	p.Y348Y(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		presenilin associated, rhomboid-like							123.0	127.0	126.0					3																	183547482		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547482G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1044C>T	3.37:g.183547482G>A						PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	p.Y348Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1104	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		348					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.1044C>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		5	350	0	0	0	0.014758	0	5	350				
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:57566959C>A	ENST00000243077.3	+	21	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1058					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P1058T(3)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243077.3																			3	Substitution - Missense(3)	p.P1058T(3)	prostate(2)|endometrium(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(3172-3174)Ccc>Acc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						45.0	42.0	43.0					12																	57566959		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57566959C>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3172C>A	12.37:g.57566959C>A	ENSP00000243077:p.Pro1058Thr		OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1024		p.P1058T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	21	3638	+			1058					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3172C>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589375	0.66105	.	.	ENSG00000123384	ENST00000243077	D	0.91237	-2.81	5.08	4.19	0.49359	.	0.000000	0.64402	D	0.000001	D	0.89255	0.6663	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85355	0.1104	10	0.10902	T	0.67	.	14.634	0.68676	0.0:0.8532:0.1468:0.0	.	1058	Q07954	LRP1_HUMAN	T	1058	ENSP00000243077:P1058T	ENSP00000243077:P1058T	P	+	1	0	LRP1	55853226	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	7.488000	0.81441	1.355000	0.45865	0.561000	0.74099	CCC		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		6	48	1	0	0.0215528	0.021553	0.0236482	6	48				
DOT1L	84444	broad.mit.edu	37	19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:2210728C>T	ENST00000398665.3	+	14	1261	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	409	Required for interaction with nucleosomes and DNA.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.R409C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCTGGCCGCAAGCGCGG	0.602																																						ENST00000398665.3																			1	Substitution - Missense(1)	p.R409C(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1225-1227)Cgc>Tgc		DOT1-like histone H3K79 methyltransferase							66.0	79.0	75.0					19																	2210728		1964	4144	6108	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210728C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1225C>T	19.37:g.2210728C>T	ENSP00000381657:p.Arg409Cys						p.R409C	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1261	+		Hepatocellular(1079;0.137)	409			Required for interaction with nucleosomes and DNA.		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1225C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021213	0.75275	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.31510	1.49	4.84	3.77	0.43336	.	0.058386	0.64402	D	0.000003	T	0.50650	0.1628	M	0.68952	2.095	0.45594	D	0.998539	D	0.89917	1.0	D	0.80764	0.994	T	0.54193	-0.8330	10	0.87932	D	0	-25.575	11.6214	0.51119	0.2509:0.7491:0.0:0.0	.	409	Q8TEK3-2	.	C	409	ENSP00000381657:R409C	ENSP00000221482:R409C	R	+	1	0	DOT1L	2161728	1.000000	0.71417	0.982000	0.44146	0.801000	0.45260	3.079000	0.50104	2.222000	0.72286	0.561000	0.74099	CGC		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		9	129	0	0	0	0.069234	0	9	129				
PDE1B	5153	broad.mit.edu	37	12	54971306	54971306	+	Intron	SNP	C	C	T	rs562016880		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:54971306C>T	ENST00000243052.3	+	15	2064				PPP1R1A_ENST00000547431.1_Missense_Mutation_p.V110M|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AATCCTCCCACGCTCTTCTGT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20842	0.0		0.001	False		,,,				2504	0.0					ENST00000547431.1																			0				lung(2)	2						c.(328-330)Gtg>Atg		protein phosphatase 1, regulatory (inhibitor) subunit 1A							125.0	109.0	114.0					12																	54971306		876	1991	2867	SO:0001627	intron_variant	5502				glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr12:54971306C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1608+177C>T	12.37:g.54971306C>T						PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000538346.1_Intron	p.V110M			Q13522	PPR1A_HUMAN			6	355	-			0					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.328G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	7.423	0.637091	0.14386	.	.	ENSG00000135447	ENST00000379690	.	.	.	3.53	2.62	0.31277	.	.	.	.	.	T	0.42108	0.1188	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.30475	-0.9977	5	0.51188	T	0.08	.	8.8518	0.35203	0.0:0.7289:0.2711:0.0	.	.	.	.	M	110	.	ENSP00000369012:V110M	V	-	1	0	PPP1R1A	53257573	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.246000	0.18160	1.021000	0.39600	0.549000	0.68633	GTG		0.547	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			6	151	0	0	0	0.029380	0	6	151				
BRD8	10902	broad.mit.edu	37	5	137485406	137485406	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:137485406G>A	ENST00000254900.5	-	23	3572	c.3201C>T	c.(3199-3201)ggC>ggT	p.G1067G		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1067					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.G1067G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATCACACTCGCCTGAAGGGG	0.502																																						ENST00000254900.5																			1	Substitution - coding silent(1)	p.G1067G(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(3199-3201)ggC>ggT		bromodomain containing 8							147.0	124.0	132.0					5																	137485406		2203	4300	6503	SO:0001819	synonymous_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137485406G>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3201C>T	5.37:g.137485406G>A							p.G1067G	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		23	3572	-			1067					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	c.3201C>T	CCDS4198.1																																																																																				0.502	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		15	154	0	0	0	0.119110	0	15	154				
PIKFYVE	200576	broad.mit.edu	37	2	209190767	209190767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:209190767C>T	ENST00000264380.4	+	20	3390	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1078					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1078*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCTCTACCCGAGATTATTT	0.423																																						ENST00000264380.4																			2	Substitution - Nonsense(2)	p.R1078*(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3232-3234)Cga>Tga		phosphoinositide kinase, FYVE finger containing							71.0	76.0	74.0					2																	209190767		2203	4300	6503	SO:0001587	stop_gained	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190767C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3232C>T	2.37:g.209190767C>T	ENSP00000264380:p.Arg1078*						p.R1078*	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			20	3390	+			1078					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	ENST00000264380.4	37	c.3232C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	38	6.701610	0.97772	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	.	.	.	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8739	14.3068	0.66389	0.3822:0.6178:0.0:0.0	.	.	.	.	X	1078;654;1022	.	ENSP00000264380:R1078X	R	+	1	2	PIKFYVE	208899012	0.993000	0.37304	0.994000	0.49952	0.934000	0.57294	1.854000	0.39368	1.639000	0.50556	-0.127000	0.14921	CGA		0.423	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	189	0	0	0	0.021553	0	5	189				
ADAMTS16	170690	broad.mit.edu	37	5	5303543	5303543	+	Silent	SNP	G	G	A	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	ENST00000274181.7	+	19	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	984	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q984Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677																																						ENST00000274181.7																			2	Substitution - coding silent(2)	p.Q984Q(2)	prostate(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2950-2952)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							11.0	13.0	12.0					5																	5303543		2000	4154	6154	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303543G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2952G>A	5.37:g.5303543G>A							p.Q984Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			19	3090	+			984			TSP type-1 3.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2952G>A	CCDS43299.1																																																																																				0.677	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	15	0	0	0	0.009096	0	4	15				
FAM83B	222584	broad.mit.edu	37	6	54735045	54735045	+	Start_Codon_SNP	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:54735045A>T	ENST00000306858.7	+	2	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1								p.M1L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTTGCAAGCATGGAGACCTC	0.378																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.M1L(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1-3)Atg>Ttg		family with sequence similarity 83, member B							124.0	104.0	111.0					6																	54735045		2203	4300	6503	SO:0001582	initiator_codon_variant	222584							g.chr6:54735045A>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1A>T	6.37:g.54735045A>T	ENSP00000304078:p.Met1Leu						p.M1L	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	117	+	Lung NSC(77;0.0178)|Renal(3;0.122)		1					Q2M1P3|Q96DQ2	Translation_Start_Site	SNP	ENST00000306858.7	37	c.1A>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397930	0.83120	.	.	ENSG00000168143	ENST00000306858	T	0.08896	3.04	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	.	.	.	0.35905	D	0.830693	D	0.64830	0.994	D	0.70716	0.97	T	0.01940	-1.1243	9	0.87932	D	0	-25.1178	15.4383	0.75162	1.0:0.0:0.0:0.0	.	1	Q5T0W9	FA83B_HUMAN	L	1	ENSP00000304078:M1L	ENSP00000304078:M1L	M	+	1	0	FAM83B	54843004	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.510000	0.90532	2.110000	0.64415	0.482000	0.46254	ATG		0.378	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	Missense_Mutation	19	175	0	0	0	0.043863	0	19	175				
SLC33A1	9197	broad.mit.edu	37	3	155571051	155571051	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:155571051G>A	ENST00000392845.3	-	1	1116	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	246					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.R246W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTGAAACCGCAAATATTTG	0.408																																						ENST00000392845.2																			1	Substitution - Missense(1)	p.R246W(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(736-738)Cgg>Tgg		solute carrier family 33 (acetyl-CoA transporter), member 1							53.0	56.0	55.0					3																	155571051		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571051G>A	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.736C>T	3.37:g.155571051G>A	ENSP00000376587:p.Arg246Trp					SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W	p.R246W	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	1116	-			246					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.736C>T	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967217	0.74131	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.79554	-1.28;-1.28	5.28	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);	0.053337	0.64402	D	0.000001	D	0.91136	0.7209	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92771	0.6232	10	0.87932	D	0	-14.6457	13.3866	0.60799	0.0:0.0:0.7134:0.2866	.	246	O00400	ACATN_HUMAN	W	246	ENSP00000376587:R246W;ENSP00000352456:R246W	ENSP00000352456:R246W	R	-	1	2	SLC33A1	157053745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.420000	0.59841	1.343000	0.45638	0.650000	0.86243	CGG		0.408	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		4	98	0	0	0	0.009096	0	4	98				
MED15	51586	broad.mit.edu	37	22	20937203	20937203	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:20937203C>T	ENST00000263205.7	+	11	1555	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000541476.1_Missense_Mutation_p.R430W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Missense_Mutation_p.R345W	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	496	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R496W(1)|p.R456W(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTGACGGCGCGGACCCCACA	0.602																																						ENST00000263205.7																			2	Substitution - Missense(2)	p.R496W(1)|p.R456W(1)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1486-1488)Cgg>Tgg		mediator complex subunit 15							58.0	61.0	60.0					22																	20937203		2203	4299	6502	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937203C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1486C>T	22.37:g.20937203C>T	ENSP00000263205:p.Arg496Trp					MED15_ENST00000425759.2_Missense_Mutation_p.R345W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000541476.1_Missense_Mutation_p.R430W	p.R496W	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		11	1555	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	496			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1486C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870228	0.72065	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.987;0.977;0.978;0.989;0.987	T	0.80843	-0.1201	9	0.62326	D	0.03	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	426;475;112;430;456;496	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	W	345;456;496;430;385;430;426	.	ENSP00000263205:R496W	R	+	1	2	MED15	19267203	1.000000	0.71417	0.962000	0.40283	0.599000	0.36880	5.437000	0.66544	2.574000	0.86865	0.561000	0.74099	CGG		0.602	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	95	0	0	0	0.029380	0	7	95				
SETD1A	9739	broad.mit.edu	37	16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A	rs373025485		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	ENST00000262519.8	+	14	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1414	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A1414T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687																																						ENST00000262519.8																			1	Substitution - Missense(1)	p.A1414T(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4240-4242)Gcc>Acc		SET domain containing 1A		G	THR/ALA	0,4390		0,0,2195	21.0	24.0	23.0		4240	-5.1	0.0	16		23	1,8595		0,1,4297	no	missense	SETD1A	NM_014712.1	58	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	1414/1708	30991347	1,12985	2195	4298	6493	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991347G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4240G>A	16.37:g.30991347G>A	ENSP00000262519:p.Ala1414Thr						p.A1414T	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	4926	+			1414			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4240G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	4.241	0.043649	0.08196	0.0	1.16E-4	ENSG00000099381	ENST00000262519	D	0.94046	-3.34	4.06	-5.09	0.02920	.	1.278640	0.05222	N	0.508702	T	0.79741	0.4498	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72010	-0.4419	10	0.09843	T	0.71	.	2.3248	0.04220	0.1451:0.0969:0.3186:0.4394	.	1414	O15047	SET1A_HUMAN	T	1414	ENSP00000262519:A1414T	ENSP00000262519:A1414T	A	+	1	0	SETD1A	30898848	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.112000	0.10791	-1.406000	0.02045	-0.253000	0.11424	GCC		0.687	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	14	0	0	0	0.029380	0	7	14				
EPS15	2060	broad.mit.edu	37	1	51826841	51826841	+	Splice_Site	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	ENST00000371733.3	-	24	2641		c.e24+1		EPS15_ENST00000371730.2_Splice_Site|EPS15_ENST00000396122.4_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	thyroid(1)|prostate(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.e24+1		epidermal growth factor receptor pathway substrate 15							118.0	116.0	116.0					1																	51826841		2203	4300	6503	SO:0001630	splice_region_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51826841A>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2544+1T>C	1.37:g.51826841A>G						EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site		NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			24	2641	-								B2R8J7|D3DPJ2|Q5SRH4	Splice_Site	SNP	ENST00000371733.3	37		CCDS557.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152012	0.78001	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15	51599429	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.041000	0.70988	2.230000	0.72887	0.482000	0.46254	.		0.358	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	Intron	40	128	0	0	0	0.092188	0	40	128				
LINGO2	158038	broad.mit.edu	37	9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral component of membrane (GO:0016021)		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547																																						ENST00000379992.2																			4	Substitution - Missense(4)	p.R369Q(4)	prostate(2)|kidney(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1105-1107)cGa>cAa		leucine rich repeat and Ig domain containing 2							40.0	38.0	38.0					9																	27949564		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949564C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1106G>A	9.37:g.27949564C>T	ENSP00000369328:p.Arg369Gln					LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1555	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	369			LRRCT.		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1106G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651762	0.67472	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58210	0.35;0.35	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.050823	0.85682	D	0.000000	T	0.67692	0.2920	L	0.47190	1.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.67103	0.949	T	0.60811	-0.7189	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	369	Q7L985	LIGO2_HUMAN	Q	369	ENSP00000369328:R369Q;ENSP00000310126:R369Q	.	R	-	2	0	LINGO2	27939564	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.694000	0.54742	2.937000	0.99478	0.650000	0.86243	CGA		0.547	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		14	61	0	0	0	0.132662	0	14	61				
CDH17	1015	broad.mit.edu	37	8	95140541	95140541	+	Missense_Mutation	SNP	C	C	T	rs201729274		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:95140541C>T	ENST00000027335.3	-	18	2550	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	CDH17_ENST00000441892.2_Missense_Mutation_p.R557H|CDH17_ENST00000450165.2_Missense_Mutation_p.R809H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	809					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R809H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTTTATGCGGATAAACAC	0.323																																						ENST00000027335.3																			1	Substitution - Missense(1)	p.R809H(1)	prostate(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2425-2427)cGc>cAc		cadherin 17, LI cadherin (liver-intestine)							106.0	104.0	105.0					8																	95140541		2202	4299	6501	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95140541C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2426G>A	8.37:g.95140541C>T	ENSP00000027335:p.Arg809His					CDH17_ENST00000441892.2_Missense_Mutation_p.R557H|CDH17_ENST00000450165.2_Missense_Mutation_p.R809H	p.R809H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		18	2550	-	Breast(36;4.65e-06)		809					Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.2426G>A	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451911	0.43531	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.60299	0.31;0.2;0.31	5.63	3.84	0.44239	.	0.125208	0.36972	N	0.002309	T	0.41465	0.1160	N	0.21448	0.665	0.33556	D	0.596784	P;D	0.63046	0.453;0.992	B;P	0.44732	0.028;0.459	T	0.49978	-0.8881	10	0.19147	T	0.46	-2.6879	9.244	0.37513	0.0:0.832:0.0:0.168	.	557;809	E7EN24;Q12864	.;CAD17_HUMAN	H	809;557;809	ENSP00000027335:R809H;ENSP00000392811:R557H;ENSP00000401468:R809H	ENSP00000027335:R809H	R	-	2	0	CDH17	95209717	0.151000	0.22747	0.756000	0.31282	0.933000	0.57130	0.454000	0.21827	0.854000	0.35336	0.655000	0.94253	CGC		0.323	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		33	84	0	0	0	0.045705	0	33	84				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	155	0	0	0	0.009096	0	4	155				
ARG2	384	broad.mit.edu	37	14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C	rs199828283		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	ENST00000261783.3	+	5	751	c.571G>C	c.(571-573)Gca>Cca	p.A191P	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	191					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.A191P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423																																						ENST00000261783.3																			1	Substitution - Missense(1)	p.A191P(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(571-573)Gca>Cca		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						200.0	186.0	191.0					14																	68113409		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113409G>C	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.571G>C	14.37:g.68113409G>C	ENSP00000261783:p.Ala191Pro					ARG2_ENST00000556491.1_3'UTR	p.A191P	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	5	751	+			191					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.571G>C	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326826	0.24080	.	.	ENSG00000081181	ENST00000261783	D	0.84800	-1.9	6.04	3.28	0.37604	Ureohydrolase domain (1);	0.308380	0.40144	N	0.001163	T	0.67449	0.2894	N	0.12569	0.235	0.23568	N	0.997391	B	0.02656	0.0	B	0.01281	0.0	T	0.52343	-0.8588	10	0.27785	T	0.31	.	4.6158	0.12427	0.0:0.5091:0.1552:0.3357	.	191	P78540	ARGI2_HUMAN	P	191	ENSP00000261783:A191P	ENSP00000261783:A191P	A	+	1	0	ARG2	67183162	0.186000	0.23225	0.995000	0.50966	0.948000	0.59901	0.702000	0.25631	0.458000	0.26988	-1.021000	0.02439	GCA		0.423	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		7	239	0	0	0	0.038147	0	7	239				
PRPF38B	55119	broad.mit.edu	37	1	109241909	109241909	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:109241909G>A	ENST00000370025.4	+	6	1177	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R192Q	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	303	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R303Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAACGCCAGCGACTAGAGCGT	0.512																																						ENST00000370021.1																			1	Substitution - Missense(1)	p.R303Q(1)	prostate(1)	NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(574-576)cGa>cAa		pre-mRNA processing factor 38B							79.0	81.0	80.0					1																	109241909		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109241909G>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.908G>A	1.37:g.109241909G>A	ENSP00000359042:p.Arg303Gln					PRPF38B_ENST00000370025.4_Missense_Mutation_p.R303Q	p.R192Q			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1212	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	303					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.575G>A	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925428	0.52759	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T	0.28895	1.59	5.69	5.69	0.88448	.	0.055616	0.64402	D	0.000002	T	0.21801	0.0525	L	0.27053	0.805	0.58432	D	0.999999	D	0.57899	0.981	P	0.47603	0.551	T	0.00956	-1.1501	10	0.45353	T	0.12	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	303	Q5VTL8	PR38B_HUMAN	Q	303;192	ENSP00000359042:R303Q	ENSP00000359038:R192Q	R	+	2	0	PRPF38B	109043432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.133000	0.77259	2.698000	0.92095	0.591000	0.81541	CGA		0.512	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		12	77	0	0	0	0.080935	0	12	77				
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	C	A	rs371059328		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:56043514C>A	ENST00000313033.2	+	1	486	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413																																						ENST00000313033.2																			1	Substitution - Missense(1)	p.R134S(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(400-402)Cgc>Agc		olfactory receptor, family 5, subfamily T, member 1		C	SER/ARG	0,4402		0,0,2201	215.0	187.0	197.0		400	1.5	0.1	11		197	1,8587	1.2+/-3.3	0,1,4293	no	missense	OR5T1	NM_001004745.1	110	0,1,6494	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	134/327	56043514	1,12989	2201	4294	6495	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043514C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.400C>A	11.37:g.56043514C>A	ENSP00000323612:p.Arg134Ser						p.R134S	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	486	+	Esophageal squamous(21;0.00448)		134					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.400C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394021	0.62066	0.0	1.16E-4	ENSG00000181698	ENST00000313033	T	0.77620	-1.11	3.44	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	D	0.89040	0.6602	H	0.97983	4.12	0.28013	N	0.934839	D	0.53885	0.963	P	0.56916	0.809	T	0.83072	-0.0142	10	0.87932	D	0	.	8.4451	0.32836	0.0:0.798:0.0:0.202	.	134	Q8NG75	OR5T1_HUMAN	S	134	ENSP00000323612:R134S	ENSP00000323612:R134S	R	+	1	0	OR5T1	55800090	0.364000	0.24997	0.077000	0.20336	0.970000	0.65996	1.004000	0.29822	0.286000	0.22352	0.465000	0.42564	CGC		0.413	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		46	444	1	0	2.47872e-24	0.117977	3.05968e-24	46	444				
AGTR1	185	broad.mit.edu	37	3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	ENST00000497524.1	+	2	465	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000542281.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	25					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.N25T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353																																						ENST00000542281.1																			1	Substitution - Missense(1)	p.N25T(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(73-75)aAt>aCt		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						109.0	108.0	108.0					3																	148458896		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148458896A>C	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.74A>C	3.37:g.148458896A>C	ENSP00000419422:p.Asn25Thr					AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T	p.N25T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	520	+			25					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.74A>C	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	A	9.716	1.158339	0.21454	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.34	-2.58	0.06228	.	0.690699	0.15102	N	0.280486	T	0.19208	0.0461	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.23891	T	0.37	-3.3495	7.098	0.25321	0.4706:0.0:0.4139:0.1156	.	25	P30556	AGTR1_HUMAN	T	25	ENSP00000419422:N25T;ENSP00000273430:N25T;ENSP00000443186:N25T;ENSP00000398832:N25T;ENSP00000385612:N25T;ENSP00000419783:N25T;ENSP00000418084:N25T;ENSP00000418851:N25T;ENSP00000385641:N25T	ENSP00000273430:N25T	N	+	2	0	AGTR1	149941586	0.030000	0.19436	0.610000	0.28997	0.988000	0.76386	0.347000	0.20014	-0.330000	0.08514	0.533000	0.62120	AAT		0.353	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			24	168	0	0	0	0.069288	0	24	168				
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTTTCGAAGATTCCACCAG	0.343																																						ENST00000360093.3																			1	Substitution - Missense(1)	p.L1195I(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3583-3585)Ctt>Att		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						196.0	171.0	179.0					2																	165970412		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165970412G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3583C>A	2.37:g.165970412G>T	ENSP00000353206:p.Leu1195Ile					SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			20	4074	-			1195					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3583C>A		.	.	.	.	.	.	.	.	.	.	G	18.30	3.593920	0.66219	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.51	5.51	0.81932	Sodium ion transport-associated (1);	0.000000	0.50627	D	0.000109	D	0.89560	0.6750	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.39404	0.589;0.474;0.419;0.419;0.672	B;B;B;B;P	0.46850	0.28;0.285;0.187;0.187;0.529	D	0.89129	0.3508	10	0.48119	T	0.1	.	13.6835	0.62502	0.0742:0.0:0.9258:0.0	.	1195;1146;1146;1146;1195	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1195;1195;1146;1146	ENSP00000353206:L1195I;ENSP00000283254:L1195I;ENSP00000386726:L1146I;ENSP00000403348:L1146I	ENSP00000283254:L1195I	L	-	1	0	SCN3A	165678658	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.736000	0.68597	2.588000	0.87417	0.585000	0.79938	CTT		0.343	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		7	289	1	0	0.00198382	0.029380	0.00223888	7	289				
ZSCAN5B	342933	broad.mit.edu	37	19	56701513	56701513	+	Missense_Mutation	SNP	G	G	A	rs534584381		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:56701513G>A	ENST00000586855.2	-	5	1484	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	391					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)	p.R391C(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCAAGAAGCGCTTCCGACAG	0.527																																						ENST00000586855.2																			2	Substitution - Missense(2)	p.R391C(2)	prostate(2)	breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1171-1173)Cgc>Tgc		zinc finger and SCAN domain containing 5B							76.0	80.0	79.0					19																	56701513		2180	4279	6459	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701513G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1171C>T	19.37:g.56701513G>A	ENSP00000466072:p.Arg391Cys					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C	p.R391C			A6NJL1	ZSA5B_HUMAN			5	1484	-			391						Missense_Mutation	SNP	ENST00000586855.2	37	c.1171C>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	g	8.074	0.770981	0.15983	.	.	ENSG00000197213	ENST00000358992	T	0.07688	3.17	3.15	-0.756	0.11057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	L	0.48986	1.54	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	9	0.46703	T	0.11	.	6.1041	0.20063	0.5093:0.3071:0.1837:0.0	.	391	A6NJL1	ZSA5B_HUMAN	C	391	ENSP00000351883:R391C	ENSP00000351883:R391C	R	-	1	0	ZSCAN5B	61393325	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-5.279000	0.00135	-0.137000	0.11455	-0.699000	0.03677	CGC		0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		8	98	0	0	0	0.038147	0	8	98				
CDC45	8318	broad.mit.edu	37	22	19467485	19467485	+	De_novo_Start_InFrame	SNP	C	C	A	rs535099250		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:19467485C>A	ENST00000407835.1	+	0	250				CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_De_novo_Start_InFrame|UFD1L_ENST00000484101.1_5'Flank|CDC45_ENST00000404724.3_De_novo_Start_InFrame|UFD1L_ENST00000399523.1_5'Flank|UFD1L_ENST00000360834.4_5'Flank|CDC45_ENST00000437685.2_De_novo_Start_InFrame|UFD1L_ENST00000263202.10_5'Flank			O75419	CDC45_HUMAN	cell division cycle 45						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCGGCCGCCGTGGCTATGT	0.672																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19								cell division cycle 45							35.0	42.0	40.0					22																	19467485		2197	4290	6487			8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19467485C>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386		22.37:g.19467485C>A						CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_De_novo_Start_InFrame|CDC45_ENST00000263201.1_De_novo_Start_InFrame				O75419	CDC45_HUMAN			0	250	+								B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Translation_Start_Site	SNP	ENST00000407835.1	37		CCDS13762.1																																																																																				0.672	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		6	68	1	0	0.00307968	0.038147	0.00342669	6	68				
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562																																						ENST00000426455.1																			1	Substitution - Missense(1)	p.E358V(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1072-1074)gAa>gTa		stromal antigen 3							89.0	88.0	88.0					7																	99795408		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99795408A>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1073A>T	7.37:g.99795408A>T	ENSP00000400359:p.Glu358Val					STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V	p.E358V			Q9UJ98	STAG3_HUMAN			11	1480	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		358			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1073A>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.001410	0.54254	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.34072	1.38;1.38;1.38	5.71	5.71	0.89125	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.124068	0.35646	N	0.003073	T	0.39279	0.1072	M	0.78223	2.4	0.39065	D	0.960591	P;B	0.41313	0.745;0.033	B;B	0.37601	0.254;0.036	T	0.51395	-0.8711	10	0.87932	D	0	-2.5797	10.0627	0.42284	0.8311:0.1689:0.0:0.0	.	300;358	B4DZ10;Q9UJ98	.;STAG3_HUMAN	V	358;300;316;358	ENSP00000400359:E358V;ENSP00000377586:E300V;ENSP00000319318:E358V	ENSP00000319318:E358V	E	+	2	0	STAG3	99633344	0.998000	0.40836	0.992000	0.48379	0.201000	0.24016	3.834000	0.55798	2.176000	0.68965	0.528000	0.53228	GAA		0.562	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		8	146	0	0	0	0.047766	0	8	146				
INTS12	57117	broad.mit.edu	37	4	106607868	106607868	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:106607868A>G	ENST00000451321.2	-	6	1264	c.785T>C	c.(784-786)tTt>tCt	p.F262S	INTS12_ENST00000340139.5_Missense_Mutation_p.F262S|INTS12_ENST00000394735.1_Missense_Mutation_p.F262S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	262					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)	p.F262S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TGTTCTCTTAAACGCTAGAAA	0.313																																						ENST00000451321.2																			1	Substitution - Missense(1)	p.F262S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(784-786)tTt>tCt		integrator complex subunit 12							101.0	99.0	100.0					4																	106607868		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106607868A>G		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.785T>C	4.37:g.106607868A>G	ENSP00000415433:p.Phe262Ser					INTS12_ENST00000394735.1_Missense_Mutation_p.F262S|INTS12_ENST00000340139.5_Missense_Mutation_p.F262S	p.F262S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	6	1264	-			262					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.785T>C	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346927	0.82022	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321	T;T;T	0.56776	0.44;0.44;0.44	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.64360	-0.6426	10	0.49607	T	0.09	-20.1527	16.6406	0.85098	1.0:0.0:0.0:0.0	.	262	Q96CB8	INT12_HUMAN	S	262	ENSP00000378221:F262S;ENSP00000340737:F262S;ENSP00000415433:F262S	ENSP00000340737:F262S	F	-	2	0	INTS12	106827317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.733000	0.91539	2.326000	0.78906	0.533000	0.62120	TTT		0.313	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		3	132	0	0	0	0.115264	0	3	132				
CEP290	80184	broad.mit.edu	37	12	88487642	88487642	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:88487642G>A	ENST00000552810.1	-	28	3557	c.3214C>T	c.(3214-3216)Cgg>Tgg	p.R1072W	CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W|CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.R1074W(1)|p.R1072W(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCAGCCCGCTGCCTTTCA	0.348																																						ENST00000552810.1																			2	Substitution - Missense(2)	p.R1074W(1)|p.R1072W(1)	prostate(2)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(3214-3216)Cgg>Tgg		centrosomal protein 290kDa							77.0	74.0	75.0					12																	88487642		1845	4088	5933	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88487642G>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3214C>T	12.37:g.88487642G>A	ENSP00000448012:p.Arg1072Trp					CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W	p.R1072W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			28	3557	-			1072					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.3214C>T	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569788	0.65765	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.76968	-0.74;-1.06;-1.06;-0.74	5.66	2.53	0.30540	.	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.68952	2.095	0.40773	D	0.983107	D	0.89917	1.0	D	0.97110	1.0	D	0.87022	0.2129	10	0.72032	D	0.01	.	16.0588	0.80822	0.0:0.0:0.2815:0.7185	.	1072	O15078	CE290_HUMAN	W	132;1072;1074;132	ENSP00000446905:R132W;ENSP00000448012:R1072W;ENSP00000308021:R1074W;ENSP00000380938:R132W	ENSP00000308021:R1074W	R	-	1	2	CEP290	87011773	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.481000	0.45215	0.178000	0.19917	-0.470000	0.05040	CGG		0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		3	78	0	0	0	0.115264	0	3	78				
GIGYF2	26058	broad.mit.edu	37	2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	ENST00000409547.1	+	8	616	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373566.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	102					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L102P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTGCTGTCCTGCGATTGACA	0.393																																						ENST00000373566.3																			1	Substitution - Missense(1)	p.L102P(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(304-306)cTg>cCg		GRB10 interacting GYF protein 2							54.0	57.0	56.0					2																	233620970		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233620970T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.305T>C	2.37:g.233620970T>C	ENSP00000386537:p.Leu102Pro					GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P	p.L102P			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	502	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	102					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.305T>C	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061973	0.93846	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	T;T;T;T;T;T;T;T;T;T	0.79749	-1.1;-1.1;-1.3;-1.1;-1.28;-1.1;-1.1;-1.09;-1.1;-1.24	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	D	0.90393	0.6993	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.999	D	0.91720	0.5388	10	0.87932	D	0	-15.7738	16.194	0.82011	0.0:0.0:0.0:1.0	.	102;102;102	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	P	102	ENSP00000362667:L102P;ENSP00000362664:L102P;ENSP00000402712:L102P;ENSP00000386765:L102P;ENSP00000396958:L102P;ENSP00000386537:L102P;ENSP00000404195:L102P;ENSP00000387070:L102P;ENSP00000387170:L102P;ENSP00000410297:L102P	ENSP00000362664:L102P	L	+	2	0	GIGYF2	233329214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	CTG		0.393	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		3	78	0	0	0	0.115264	0	3	78				
BRCA2	675	broad.mit.edu	37	13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	ENST00000380152.3	+	11	4537	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1435T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1435	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1435T(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		3	Substitution - Missense(3)	p.N1435T(3)	prostate(3)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4303-4305)aAt>aCt	Homologous recombination	breast cancer 2, early onset							58.0	70.0	66.0					13																	32912796		2184	4280	6464	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912796A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4304A>C	13.37:g.32912796A>C	ENSP00000369497:p.Asn1435Thr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	p.N1435T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4531	+		Lung SC(185;0.0262)	1435					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4304A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965784	0.34659	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.76060	-0.99;-0.99	5.95	4.75	0.60458	.	0.246394	0.36034	N	0.002835	T	0.81631	0.4863	M	0.66939	2.045	0.28571	N	0.910629	D	0.58268	0.982	P	0.59825	0.864	T	0.76887	-0.2793	10	0.51188	T	0.08	.	12.2947	0.54838	0.8581:0.1419:0.0:0.0	.	1435	P51587	BRCA2_HUMAN	T	1435	ENSP00000369497:N1435T;ENSP00000439902:N1435T	ENSP00000369497:N1435T	N	+	2	0	BRCA2	31810796	1.000000	0.71417	0.894000	0.35097	0.063000	0.16089	6.179000	0.71974	1.048000	0.40298	0.460000	0.39030	AAT		0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	237	0	0	0	0.091800	0	26	237				
TNC	3371	broad.mit.edu	37	9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	ENST00000350763.4	-	2	740	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	110					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.A110D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.A110D(1)	prostate(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(328-330)gCc>gAc		tenascin C							185.0	195.0	191.0					9																	117852969		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117852969G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.329C>A	9.37:g.117852969G>T	ENSP00000265131:p.Ala110Asp					TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D	p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	740	-			110					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.329C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441192	0.96187	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53816	-0.8385	10	0.87932	D	0	.	19.1047	0.93290	0.0:0.0:1.0:0.0	.	110;110	E9PC84;P24821	.;TENA_HUMAN	D	110	ENSP00000344400:A110D;ENSP00000438152:A110D;ENSP00000344555:A110D;ENSP00000345861:A110D;ENSP00000265131:A110D;ENSP00000339553:A110D;ENSP00000411406:A110D;ENSP00000443478:A110D;ENSP00000442242:A110D	ENSP00000344400:A110D	A	-	2	0	TNC	116892790	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCC		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		64	531	1	0	9.42754e-34	0.139131	1.18218e-33	64	531				
BMP6	654	broad.mit.edu	37	6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	ENST00000283147.6	+	2	953	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	265					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.G265E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.G265E(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(793-795)gGg>gAg		bone morphogenetic protein 6							99.0	98.0	98.0					6																	7845502		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845502G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.794G>A	6.37:g.7845502G>A	ENSP00000283147:p.Gly265Glu						p.G265E	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	953	+	Ovarian(93;0.0721)		265					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.794G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690827	0.15039	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.62498	0.02	5.41	3.62	0.41486	Transforming growth factor-beta, N-terminal (1);	0.344925	0.33419	N	0.004931	T	0.19005	0.0456	N	0.16602	0.42	0.32125	N	0.587561	B	0.18741	0.03	B	0.23716	0.048	T	0.08889	-1.0700	10	0.02654	T	1	.	10.4749	0.44659	0.2137:0.0:0.7863:0.0	.	265	P22004	BMP6_HUMAN	E	187;265;228	ENSP00000283147:G265E	ENSP00000283147:G265E	G	+	2	0	BMP6	7790501	0.999000	0.42202	0.983000	0.44433	0.972000	0.66771	2.863000	0.48396	1.278000	0.44430	0.557000	0.71058	GGG		0.473	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		13	164	0	0	0	0.093190	0	13	164				
ABHD17B	51104	broad.mit.edu	37	9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:74485071G>A	ENST00000333421.6	-	3	686	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	192						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.S192F(1)									AGTCAGAGGAGAATGAAGAAT	0.408																																						ENST00000333421.6																			1	Substitution - Missense(1)	p.S192F(1)	prostate(1)								c.(574-576)tCt>tTt		abhydrolase domain containing 17B							161.0	147.0	152.0					9																	74485071		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74485071G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.575C>T	9.37:g.74485071G>A	ENSP00000330222:p.Ser192Phe					ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	p.S192F	NM_001025780.1	NP_001020951.1					3	686	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.575C>T	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223843	0.79576	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51071	0.72;0.72	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89533	0.3787	10	0.87932	D	0	-12.9451	14.1573	0.65426	0.0722:0.0:0.9278:0.0	.	192;192	Q5VST6;Q5VST6-2	F108B_HUMAN;.	F	192	ENSP00000366240:S192F;ENSP00000330222:S192F	ENSP00000330222:S192F	S	-	2	0	FAM108B1	73674891	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.669000	0.98622	1.395000	0.46643	0.655000	0.94253	TCT		0.408	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		74	225	0	0	0	0.139131	0	74	225				
TBC1D15	64786	broad.mit.edu	37	12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	ENST00000550746.1	+	8	849	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	262					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R262K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368																																						ENST00000550746.1																			1	Substitution - Missense(1)	p.R262K(1)	prostate(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(784-786)aGa>aAa		TBC1 domain family, member 15							92.0	92.0	92.0					12																	72288542		2203	4298	6501	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72288542G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.785G>A	12.37:g.72288542G>A	ENSP00000448182:p.Arg262Lys					TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K	p.R262K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			8	849	+			262					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.785G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085007	0.94100	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.08008	3.4;3.39;3.39;3.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	L	0.54323	1.7	0.51012	D	0.999903	P;P;P	0.45768	0.835;0.866;0.824	B;P;B	0.48901	0.254;0.594;0.197	T	0.08889	-1.0700	10	0.13470	T	0.59	-15.9039	18.9119	0.92489	0.0:0.0:1.0:0.0	.	253;245;262	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	262;146;253;245;16	ENSP00000448182:R262K;ENSP00000318262:R253K;ENSP00000420678:R245K;ENSP00000376986:R16K	ENSP00000318262:R253K	R	+	2	0	TBC1D15	70574809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.472000	0.83506	0.580000	0.79431	AGA		0.368	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		5	200	0	0	0	0.014758	0	5	200				
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr17:39633889G>A	ENST00000393989.1	-	6	1143	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	KRT35_ENST00000246639.2_Silent_p.A337A	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647																																						ENST00000246639.2																			2	Substitution - coding silent(2)	p.A367A(2)	prostate(1)|kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1009-1011)gcC>gcT		keratin 35							58.0	59.0	59.0					17																	39633889		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633889G>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1101C>T	17.37:g.39633889G>A						KRT35_ENST00000393989.1_Silent_p.A367A	p.A337A			Q92764	KRT35_HUMAN			6	1143	-		Breast(137;0.000286)	367			Coil 2.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.1011C>T	CCDS11394.2																																																																																				0.647	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	57	0	0	0	0.115264	0	3	57				
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs397791237|rs367811358|rs561097279|rs61476146	byFrequency	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629														1693	0.338059	0.4024	0.3689	5008	,	,		20008	0.1716		0.3728	False		,,,				2504	0.365					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17723476_17723477insCA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17723477_17723478dupCA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1669	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	INS	ENST00000434762.2	37																																																																																						0.629	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		3	3						3	3	---	---	---	---
ADCK3	56997	broad.mit.edu	37	1	227152757	227152757	+	Silent	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:227152757G>A	ENST00000366779.1	+	8	3005	c.234G>A	c.(232-234)gaG>gaA	p.E78E	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Silent_p.E26E|ADCK3_ENST00000366777.3_Silent_p.E78E|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	78					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E78E(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAAGGGGAGTTCCACTTCT	0.587																																						ENST00000366779.1																			1	Substitution - coding silent(1)	p.E78E(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(232-234)gaG>gaA		aarF domain containing kinase 3							51.0	59.0	56.0					1																	227152757		2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152757G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.234G>A	1.37:g.227152757G>A						ADCK3_ENST00000366777.3_Silent_p.E78E|ADCK3_ENST00000366778.1_Silent_p.E26E|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron	p.E78E			Q8NI60	ADCK3_HUMAN			8	3005	+			78					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.234G>A	CCDS1557.1																																																																																				0.587	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		6	57	0	0	0	0.021553	0	6	57				
ENTPD3-AS1	285266	broad.mit.edu	37	3	40418595	40418595	+	RNA	DEL	G	G	-	rs555205433	byFrequency	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:40418595delG	ENST00000439293.1	-	0	143									ENTPD3 antisense RNA 1																		agggaggggaggggagggagg	0.557													gggg|GGGG|GGG|deletion	2956	0.590256	0.1921	0.7651	5008	,	,		6518	0.623		0.8529	False		,,,				2504	0.7004					ENST00000439293.1																			0																																																			0							g.chr3:40418595delG			3p22.1	2012-10-12	2012-08-15		ENSG00000223797	ENSG00000223797		"""Long non-coding RNAs"""	26710	non-coding RNA	RNA, long non-coding			"""ENTPD3 antisense RNA 1 (non-protein coding)"""			12477932	Standard	NR_040100		Approved	FLJ36665	uc003cke.4		OTTHUMG00000156074		3.37:g.40418595delG														0	143	-									RNA	DEL	ENST00000439293.1	37																																																																																						0.557	ENTPD3-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000342936.1	NR_040100		3	5						3	5	---	---	---	---
WNT5A	7474	broad.mit.edu	37	3	55508479	55508480	+	Frame_Shift_Ins	INS	-	-	T	rs200263219		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:55508479_55508480insT	ENST00000474267.1	-	5	1090_1091	c.569_570insA	c.(568-570)tacfs	p.Y190fs	WNT5A_ENST00000264634.4_Frame_Shift_Ins_p.Y190fs|WNT5A_ENST00000497027.1_Frame_Shift_Ins_p.Y175fs			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	190					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TGGCAAAGCGGTAGCCATAGTC	0.683																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(568-570)tcgfs		wingless-type MMTV integration site family, member 5A																																				SO:0001589	frameshift_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55508479_55508480insT	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.570dupA	3.37:g.55508480_55508480dupT	ENSP00000417310:p.Tyr190fs					WNT5A_ENST00000497027.1_Frame_Shift_Ins_p.S175fs|WNT5A_ENST00000264634.4_Frame_Shift_Ins_p.S190fs	p.S190fs			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	5	1090_1091	-			190					A8K4A4|Q6P278	Frame_Shift_Ins	INS	ENST00000474267.1	37	c.569_570insA	CCDS46850.1																																																																																				0.683	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		5	11						5	11	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	ENST00000442201.2	-	2	241	c.122delT	c.(121-123)ttgfs	p.L41fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L125fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	41					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(373-375)tgfs		coiled-coil domain containing 39							144.0	134.0	137.0					3																	180381743		1839	4108	5947	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381743delA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.122delT	3.37:g.180381743delA	ENSP00000405708:p.Leu41fs					CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs	p.L125fs			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	993	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		41					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.374delT	CCDS46964.1																																																																																				0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		35	141						35	141	---	---	---	---
CTAGE6	340307	broad.mit.edu	37	7	143454287	143454291	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:143454287_143454291delTTCTT	ENST00000470691.2	-	1	498_502	c.461_465delAAGAA	c.(460-465)aaagaafs	p.KE154fs	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	154						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TAGATTTCTCTTCTTTTAAGTCTTT	0.376																																						ENST00000470691.2																			0											c.(460-465)afs		CTAGE family, member 6																																				SO:0001589	frameshift_variant	340307							g.chr7:143454287_143454291delTTCTT	BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.461_465delAAGAA	7.37:g.143454287_143454291delTTCTT	ENSP00000474388:p.Lys154fs						p.KE154fs	NM_178561.4	NP_848656.2					1	498_502	-	Melanoma(164;0.0903)							A4FU29|Q3ZCM5	Frame_Shift_Del	DEL	ENST00000470691.2	37	c.461_465delAAGAA																																																																																					0.376	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		2	4						2	4	---	---	---	---
OVOS2	144203	broad.mit.edu	37	12	31269805	31269806	+	RNA	INS	-	-	AAG	rs67001718|rs10650892|rs59759240	byFrequency	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:31269805_31269806insAAG	ENST00000542490.1	-	0	52																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CAATATTCCTCAAACTTCTCTT	0.307														3185	0.635982	0.7133	0.6095	5008	,	,		11539	0.8284		0.4274	False		,,,				2504	0.5665					ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41																																														0							g.chr12:31269805_31269806insAAG																													12.37:g.31269805_31269806insAAG														0	52	-									RNA	INS	ENST00000542490.1	37																																																																																						0.307	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			4	5						4	5	---	---	---	---
