#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
ARSJ	79642	broad.mit.edu	37	4	114899926	114899926	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:114899926C>A	ENST00000315366.7	-	1	931	c.65G>T	c.(64-66)gGa>gTa	p.G22V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.G22V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	22					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TAGCATCTTTCCAGGACAGAC	0.607																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(64-66)gGa>gTa		arylsulfatase family, member J							108.0	118.0	115.0					4																	114899926		1958	4130	6088	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114899926C>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.65G>T	4.37:g.114899926C>A	ENSP00000320219:p.Gly22Val					ARSJ_ENST00000541197.1_Missense_Mutation_p.G22V|ARSJ_ENST00000503013.2_5'UTR	p.G22V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	1	931	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	22					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.65G>T	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798493	0.31777	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.97066	-4.22;-4.23	4.86	3.13	0.36017	.	0.492248	0.18791	N	0.131069	D	0.93324	0.7872	L	0.29908	0.895	0.46874	D	0.999237	B;B	0.19935	0.04;0.04	B;B	0.24155	0.051;0.051	D	0.88523	0.3097	10	0.72032	D	0.01	.	9.067	0.36469	0.0:0.755:0.1615:0.0835	.	22;22	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	V	22	ENSP00000320219:G22V;ENSP00000438836:G22V	ENSP00000320219:G22V	G	-	2	0	ARSJ	115119375	0.853000	0.29707	0.009000	0.14445	0.032000	0.12392	1.684000	0.37649	0.449000	0.26747	-0.211000	0.12701	GGA		0.607	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		138	15	1	0	7.39696e-70	1	8.68011e-70	138	15				
CRTC2	200186	broad.mit.edu	37	1	153925843	153925843	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:153925843G>A	ENST00000368633.1	-	6	633	c.506C>T	c.(505-507)aCa>aTa	p.T169I	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	169					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTCAGAGCTTGTCCTATGGGG	0.592																																						ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(505-507)aCa>aTa		CREB regulated transcription coactivator 2							59.0	59.0	59.0					1																	153925843		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153925843G>A	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.506C>T	1.37:g.153925843G>A	ENSP00000357622:p.Thr169Ile					CRTC2_ENST00000476883.1_5'UTR|CRTC2_ENST00000368630.3_Intron	p.T169I	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	633	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		169					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.506C>T	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101322	0.76983	.	.	ENSG00000160741	ENST00000368633	T	0.61859	0.07	4.56	4.56	0.56223	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.79011	2.435	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	T	0.75581	-0.3268	10	0.87932	D	0	-6.9783	15.1957	0.73084	0.0:0.0:1.0:0.0	.	169	Q53ET0	CRTC2_HUMAN	I	169	ENSP00000357622:T169I	ENSP00000357622:T169I	T	-	2	0	CRTC2	152192467	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.669000	0.68081	2.533000	0.85409	0.455000	0.32223	ACA		0.592	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		5	57	0	0	0	1	0	5	57				
ITGAD	3681	broad.mit.edu	37	16	31434762	31434762	+	Silent	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:31434762C>A	ENST00000389202.2	+	25	2998	c.2949C>A	c.(2947-2949)gtC>gtA	p.V983V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	983				V -> A (in Ref. 3; AAB60638). {ECO:0000305}.	activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGATGTGGTCATGGAGGCCC	0.542																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2947-2949)gtC>gtA		integrin, alpha D							178.0	154.0	162.0					16																	31434762		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434762C>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2949C>A	16.37:g.31434762C>A							p.V983V	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			25	2998	+			983	V -> A (in Ref. 3; AAB60638).				Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.2949C>A	CCDS32438.1																																																																																				0.542	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		106	43	1	0	1.73998e-50	1	2.02119e-50	106	43				
KRTAP5-5	439915	broad.mit.edu	37	11	1651251	1651251	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:1651251G>A	ENST00000399676.2	+	1	219	c.181G>A	c.(181-183)Ggc>Agc	p.G61S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	61						keratin filament (GO:0045095)		p.G61S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		atgtggctccggctgCTGTGT	0.682																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G61S(1)	prostate(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(181-183)Ggc>Agc		keratin associated protein 5-5							57.0	70.0	66.0					11																	1651251		2196	4292	6488	SO:0001583	missense	439915					keratin filament		g.chr11:1651251G>A	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.181G>A	11.37:g.1651251G>A	ENSP00000382584:p.Gly61Ser						p.G61S	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	219	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	61					A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.181G>A	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	-	0.150	-1.092370	0.01858	.	.	ENSG00000185940	ENST00000399676	T	0.00691	5.84	3.73	1.09	0.20402	.	.	.	.	.	T	0.00328	0.0010	N	0.01352	-0.895	0.18873	N	0.999988	B	0.10296	0.003	B	0.04013	0.001	T	0.41360	-0.9513	9	0.07990	T	0.79	.	3.0968	0.06312	0.4645:0.0:0.3441:0.1915	.	61	Q701N2	KRA55_HUMAN	S	61	ENSP00000382584:G61S	ENSP00000382584:G61S	G	+	1	0	KRTAP5-5	1607827	0.509000	0.26163	0.989000	0.46669	0.064000	0.16182	-0.215000	0.09279	-0.039000	0.13602	-1.322000	0.01289	GGC		0.682	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			92	34	0	0	0	1	0	92	34				
OR4C12	283093	broad.mit.edu	37	11	50003362	50003362	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:50003362T>G	ENST00000335238.4	-	1	709	c.676A>C	c.(676-678)Aat>Cat	p.N226H		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCAAGCTATTGTTCTTTAAA	0.408																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(676-678)Aat>Cat		olfactory receptor, family 4, subfamily C, member 12							85.0	80.0	82.0					11																	50003362		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003362T>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.676A>C	11.37:g.50003362T>G	ENSP00000334418:p.Asn226His						p.N226H	NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN			1	709	-			226					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.676A>C	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.865733	0.00063	.	.	ENSG00000221954	ENST00000335238	T	0.37058	1.22	3.31	-4.52	0.03472	GPCR, rhodopsin-like superfamily (1);	0.397411	0.18109	U	0.151432	T	0.05914	0.0154	N	0.00355	-1.605	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	10	0.02654	T	1	.	6.7724	0.23601	0.2364:0.0:0.599:0.1647	.	226	Q96R67	OR4CC_HUMAN	H	226	ENSP00000334418:N226H	ENSP00000334418:N226H	N	-	1	0	OR4C12	49959938	0.000000	0.05858	0.001000	0.08648	0.241000	0.25554	0.217000	0.17603	-0.766000	0.04639	-1.141000	0.01876	AAT		0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		7	42	0	0	0	1	0	7	42				
TRIM33	51592	broad.mit.edu	37	1	115006917	115006917	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:115006917C>G	ENST00000358465.2	-	2	703	c.620G>C	c.(619-621)aGc>aCc	p.S207T	TRIM33_ENST00000369543.2_Missense_Mutation_p.S207T|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	207					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAGAACTGCTAGGAGCTTC	0.358			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(619-621)aGc>aCc		tripartite motif containing 33							71.0	69.0	70.0					1																	115006917		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115006917C>G	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.620G>C	1.37:g.115006917C>G	ENSP00000351250:p.Ser207Thr					TRIM33_ENST00000369543.2_Missense_Mutation_p.S207T	p.S207T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	703	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	207					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.620G>C	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123371	0.77436	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	T;T	0.75704	-0.96;-0.86	6.03	6.03	0.97812	.	0.116310	0.85682	D	0.000000	T	0.75693	0.3884	L	0.46819	1.47	0.80722	D	1	D;B	0.61697	0.99;0.367	P;B	0.55011	0.766;0.205	T	0.74067	-0.3784	10	0.46703	T	0.11	-12.4128	20.1519	0.98089	0.0:1.0:0.0:0.0	.	207;207	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	T	207	ENSP00000351250:S207T;ENSP00000358556:S207T	ENSP00000351250:S207T	S	-	2	0	TRIM33	114808440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.929000	0.48916	2.861000	0.98227	0.655000	0.94253	AGC		0.358	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		6	11	0	0	0	1	0	6	11				
BRD1	23774	broad.mit.edu	37	22	50216636	50216636	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:50216636G>A	ENST00000216267.8	-	1	1816	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	BRD1_ENST00000404034.1_Silent_p.L444L|BRD1_ENST00000542442.1_Silent_p.L83L|BRD1_ENST00000457780.2_Silent_p.L444L|BRD1_ENST00000404760.1_Silent_p.L444L|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_5'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	444					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACGGTCGGCAGGACCGCGCAG	0.572																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1330-1332)Ctg>Ttg		bromodomain containing 1							123.0	123.0	123.0					22																	50216636		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216636G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1330C>T	22.37:g.50216636G>A						BRD1_ENST00000404034.1_Silent_p.L444L|BRD1_ENST00000542442.1_Silent_p.L83L|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.L444L|BRD1_ENST00000404760.1_Silent_p.L444L|BRD1_ENST00000459821.1_5'UTR	p.L444L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1816	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	444					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1330C>T	CCDS14080.1																																																																																				0.572	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		56	117	0	0	0	1	0	56	117				
ZBTB3	79842	broad.mit.edu	37	11	62520200	62520200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:62520200C>G	ENST00000394807.3	-	2	1212	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTCTCTTCATCAGAGATCACA	0.577																																						ENST00000394807.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						c.(1087-1089)Gat>Cat		zinc finger and BTB domain containing 3							67.0	64.0	65.0					11																	62520200		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520200C>G	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1087G>C	11.37:g.62520200C>G	ENSP00000378286:p.Asp363His						p.D363H	NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN			2	1212	-			363						Missense_Mutation	SNP	ENST00000394807.3	37	c.1087G>C	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326097	0.60743	.	.	ENSG00000185670	ENST00000394807	T	0.17213	2.29	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.34521	1.04	0.47214	D	0.999358	D	0.89917	1.0	D	0.91635	0.999	T	0.03259	-1.1055	10	0.56958	D	0.05	.	14.3094	0.66405	0.0:1.0:0.0:0.0	.	363	Q9H5J0	ZBTB3_HUMAN	H	363	ENSP00000378286:D363H	ENSP00000378286:D363H	D	-	1	0	ZBTB3	62276776	1.000000	0.71417	0.961000	0.40146	0.983000	0.72400	6.135000	0.71696	2.242000	0.73789	0.561000	0.74099	GAT		0.577	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		27	35	0	0	0	1	0	27	35				
LIN7A	8825	broad.mit.edu	37	12	81239693	81239693	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:81239693C>A	ENST00000552864.1	-	4	501	c.299G>T	c.(298-300)aGt>aTt	p.S100I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	100					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGGCCTTCACTAGCTGCAAA	0.408																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(298-300)aGt>aTt		lin-7 homolog A (C. elegans)							44.0	43.0	43.0					12																	81239693		2203	4300	6503	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81239693C>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.299G>T	12.37:g.81239693C>A	ENSP00000447488:p.Ser100Ile						p.S100I	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			4	501	-			100					A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.299G>T	CCDS9021.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.41|17.41	3.383106|3.383106	0.61845|0.61845	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552864;ENST00000549417|ENST00000552093	T;T|.	0.39787|.	2.04;1.06|.	5.27|5.27	5.27|5.27	0.74061|0.74061	PDZ/DHR/GLGF (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73799|0.73799	0.3633|0.3633	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.62365|.	0.991|.	P|.	0.61201|.	0.885|.	T|T	0.71540|0.71540	-0.4562|-0.4562	10|5	0.87932|.	D|.	0|.	-10.0392|-10.0392	19.2615|19.2615	0.93970|0.93970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	100|.	O14910|.	LIN7A_HUMAN|.	I|L	100;94|66	ENSP00000447488:S100I;ENSP00000448975:S94I|.	ENSP00000448975:S94I|.	S|V	-|-	2|1	0|0	LIN7A|LIN7A	79763824|79763824	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.079000|0.079000	0.17450|0.17450	7.776000|7.776000	0.85560|0.85560	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.408	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			18	0	1	0	9.16793e-09	1	1.00411e-08	18	0				
DCP1A	55802	broad.mit.edu	37	3	53321609	53321609	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:53321609G>T	ENST00000607628.1	-	10	1853	c.1744C>A	c.(1744-1746)Cac>Aac	p.H582N	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.H580N|DCP1A_ENST00000606822.1_Missense_Mutation_p.H544N|RN7SL821P_ENST00000579907.1_RNA	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	580					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CATAGGTTGTGGTTGTCTTTG	0.433																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1744-1746)Cac>Aac		decapping mRNA 1A							161.0	158.0	159.0					3																	53321609		1918	4129	6047	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53321609G>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1744C>A	3.37:g.53321609G>T	ENSP00000475920:p.His582Asn					DCP1A_ENST00000606822.1_Missense_Mutation_p.H544N|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.H580N	p.H582N	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	10	1853	-			580					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.1744C>A																																																																																					0.433	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		17	32	1	0	3.32936e-07	1	3.61204e-07	17	32				
LINC01420	550643	broad.mit.edu	37	X	56763592	56763592	+	RNA	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:56763592G>T	ENST00000374922.4	+	0	468					NR_015367.2																						TAAAACATCTGCAGACCAAAT	0.308																																						ENST00000374922.4																			0																																																			0							g.chrX:56763592G>T																													X.37:g.56763592G>T								NR_015367.2						0	468	+									RNA	SNP	ENST00000374922.4	37																																																																																						0.308	RP11-622K12.1-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000056902.1			3	14	1	0	0.004672	1	0.00479714	3	14				
NUP93	9688	broad.mit.edu	37	16	56792513	56792513	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:56792513G>T	ENST00000308159.5	+	3	364	c.243G>T	c.(241-243)ctG>ctT	p.L81L	NUP93_ENST00000569842.1_Silent_p.L81L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	81					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGTCTGAGTGCAGCCA	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(241-243)ctG>ctT		nucleoporin 93kDa							104.0	90.0	95.0					16																	56792513		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56792513G>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.243G>T	16.37:g.56792513G>T						NUP93_ENST00000308159.5_Silent_p.L81L	p.L81L			Q8N1F7	NUP93_HUMAN			3	339	+			81					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.243G>T	CCDS10769.1																																																																																				0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		11	38	1	0	0.000673444	1	0.000704055	11	38				
KCNT2	343450	broad.mit.edu	37	1	196397292	196397292	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:196397292C>T	ENST00000294725.9	-	10	1842	c.927G>A	c.(925-927)ctG>ctA	p.L309L	KCNT2_ENST00000367431.4_Silent_p.L309L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Silent_p.L309L|KCNT2_ENST00000367433.5_Silent_p.L309L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	309					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATCAATCTTCAGTGAGCTGA	0.393																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(925-927)ctG>ctA		potassium channel, subfamily T, member 2							124.0	115.0	118.0					1																	196397292		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196397292C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.927G>A	1.37:g.196397292C>T						KCNT2_ENST00000294725.8_Silent_p.L309L|KCNT2_ENST00000367431.4_Silent_p.L309L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron	p.L309L			Q6UVM3	KCNT2_HUMAN			10	1028	-			309					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.927G>A	CCDS1384.1																																																																																				0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		4	35	0	0	0	1	0	4	35				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	95	0	0	0	1	0	5	95				
MYBPC2	4606	broad.mit.edu	37	19	50964799	50964799	+	Splice_Site	SNP	G	G	A	rs567328640		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:50964799G>A	ENST00000357701.5	+	25	2983	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	978	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCACACTAGGAGTGGTTCAA	0.512											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		19752	0.001		0.0	False		,,,				2504	0.0					ENST00000357701.5																			0				breast(1)	1						c.e25-1		myosin binding protein C, fast type							78.0	76.0	77.0					19																	50964799		2036	4197	6233	SO:0001630	splice_region_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50964799G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2932-1G>A	19.37:g.50964799G>A			OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	973		p.E978_splice	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	25	2983	+		all_neural(266;0.057)	978			Fibronectin type-III 3.		A1L4G9	Splice_Site	SNP	ENST00000357701.5	37	c.2931_splice	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	34	5.292288	0.95546	.	.	ENSG00000086967	ENST00000357701	T	0.58210	0.35	4.55	4.55	0.56014	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.35013	U	0.003513	T	0.62221	0.2410	L	0.48362	1.52	0.80722	D	1	P	0.47034	0.889	P	0.57960	0.83	T	0.60125	-0.7324	9	.	.	.	.	16.4672	0.84083	0.0:0.0:1.0:0.0	.	978	Q14324	MYPC2_HUMAN	K	978	ENSP00000350332:E978K	.	E	+	1	0	MYBPC2	55656611	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	8.921000	0.92784	2.254000	0.74563	0.550000	0.68814	GAG		0.512	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533	Missense_Mutation	3	14	0	0	0	1	0	3	14				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	54	0	0	0	1	0	5	54				
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9901-9903)cGt>cAt		CUB and Sushi multiple domains 2							139.0	117.0	125.0					1																	33999485		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33999485C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9902G>A	1.37:g.33999485C>T	ENSP00000362479:p.Arg3301His						p.R3301H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			63	10078	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3157					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9902G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753862	0.49362	.	.	ENSG00000121904	ENST00000373381	T	0.64991	-0.13	5.33	3.45	0.39498	Complement control module (2);Sushi/SCR/CCP (3);	0.324034	0.31010	N	0.008421	T	0.57140	0.2033	N	0.12961	0.28	0.80722	D	1	B;D	0.59357	0.014;0.985	B;D	0.65323	0.015;0.934	T	0.51411	-0.8709	10	0.20046	T	0.44	.	9.63	0.39774	0.0:0.7703:0.0:0.2297	.	3157;3301	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3301	ENSP00000362479:R3301H	ENSP00000241312:R3157H	R	-	2	0	CSMD2	33772072	0.958000	0.32768	0.903000	0.35520	0.527000	0.34593	1.098000	0.31000	1.248000	0.43934	0.591000	0.81541	CGT		0.562	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		17	11	0	0	0	1	0	17	11				
KDM2B	84678	broad.mit.edu	37	12	121947777	121947777	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:121947777C>T	ENST00000377071.4	-	11	1312	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	KDM2B_ENST00000542973.1_5'Flank|KDM2B_ENST00000377069.4_Missense_Mutation_p.A383T|KDM2B_ENST00000538046.2_Missense_Mutation_p.A324T|KDM2B_ENST00000536437.1_Missense_Mutation_p.A297T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	414	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGATCACAGGCCTCCTCCTCC	0.627																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1147-1149)Gcc>Acc		lysine (K)-specific demethylase 2B							34.0	41.0	39.0					12																	121947777		2031	4164	6195	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947777C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1240G>A	12.37:g.121947777C>T	ENSP00000366271:p.Ala414Thr					KDM2B_ENST00000377071.4_Missense_Mutation_p.A414T|KDM2B_ENST00000538046.2_Missense_Mutation_p.A324T|KDM2B_ENST00000536437.1_Missense_Mutation_p.A297T	p.A383T	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			11	1553	-			414					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1147G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101183	0.37048	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030	T;T;T;T;T	0.44482	2.55;1.96;0.96;0.96;0.92	5.14	2.78	0.32641	.	0.110120	0.40818	N	0.001001	T	0.19967	0.0480	N	0.08118	0	0.25239	N	0.989762	B;B;B;B	0.17038	0.02;0.002;0.002;0.002	B;B;B;B	0.14023	0.01;0.007;0.007;0.007	T	0.17349	-1.0372	10	0.23891	T	0.37	-17.922	8.1656	0.31224	0.7877:0.1407:0.0717:0.0	.	414;297;414;383	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	T	414;383;414;297;414;414;377;116	ENSP00000366269:A383T;ENSP00000366271:A414T;ENSP00000445196:A297T;ENSP00000398279:A377T;ENSP00000444846:A116T	ENSP00000261824:A414T	A	-	1	0	KDM2B	120432160	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.268000	0.72552	0.383000	0.24910	-0.262000	0.10625	GCC		0.627	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		27	4	0	0	0	1	0	27	4				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:95514946C>T	ENST00000432432.2	-	0	711				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.R201Q(1)	prostate(1)																																																0							g.chr2:95514946C>T			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514946C>T								NR_040113.1						0	711	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.308	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	117	0	0	0	1	0	4	117				
FLG	2312	broad.mit.edu	37	1	152278956	152278956	+	Silent	SNP	G	G	A	rs137870179	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:152278956G>A	ENST00000368799.1	-	3	8441	c.8406C>T	c.(8404-8406)caC>caT	p.H2802H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2802	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H2802Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGAATGCTCGTGGTGGTACC	0.597									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.H2802Q(1)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8404-8406)caC>caT		filaggrin		G		4,4396	8.1+/-20.4	0,4,2196	171.0	241.0	217.0		8406	-6.7	0.0	1	dbSNP_134	217	0,8594		0,0,4297	no	coding-synonymous	FLG	NM_002016.1		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		2802/4062	152278956	4,12990	2200	4297	6497	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278956G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8406C>T	1.37:g.152278956G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H2802H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8441	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2802			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8406C>T	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		17	763	0	0	0	1	0	17	763				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																						ENST00000376797.3																			0																																																			0							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	39	0	0	0	1	0	4	39				
CFAP46	54777	broad.mit.edu	37	10	134628401	134628401	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:134628401C>G	ENST00000368586.5	-	51	7235	c.7135G>C	c.(7135-7137)Gag>Cag	p.E2379Q	TTC40_ENST00000263170.5_Missense_Mutation_p.E540Q	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTCTTCCCTCCTTTTTCACG	0.577																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(7135-7137)Gag>Cag		tetratricopeptide repeat domain 40							167.0	170.0	169.0					10																	134628401		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134628401C>G																												ENST00000368586.5:c.7135G>C	10.37:g.134628401C>G	ENSP00000357575:p.Glu2379Gln					TTC40_ENST00000263170.5_Missense_Mutation_p.E540Q	p.E2379Q	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			51	7235	-			540						Missense_Mutation	SNP	ENST00000368586.5	37	c.7135G>C	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498478	0.26861	.	.	ENSG00000171811	ENST00000368586;ENST00000263170	T;T	0.46063	0.88;0.88	2.7	0.827	0.18835	.	1.090820	0.07149	N	0.848719	T	0.54743	0.1877	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.36456	-0.9747	10	0.52906	T	0.07	.	4.8756	0.13655	0.0:0.7016:0.0:0.2984	.	540	Q8IYW2	CJ092_HUMAN	Q	2379;540	ENSP00000357575:E2379Q;ENSP00000263170:E540Q	ENSP00000263170:E540Q	E	-	1	0	C10orf93	134478391	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	0.694000	0.25512	0.226000	0.20979	-0.229000	0.12294	GAG		0.577	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			7	129	0	0	0	1	0	7	129				
POLR3D	661	broad.mit.edu	37	8	22106726	22106726	+	Silent	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:22106726C>G	ENST00000397802.4	+	6	1040	c.825C>G	c.(823-825)ctC>ctG	p.L275L	POLR3D_ENST00000306433.4_Silent_p.L275L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	275					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACACCCTCCCTGGCCAGC	0.597																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(823-825)ctC>ctG		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							65.0	59.0	61.0					8																	22106726		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106726C>G	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.825C>G	8.37:g.22106726C>G						POLR3D_ENST00000306433.4_Silent_p.L275L	p.L275L			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	1040	+			275					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.825C>G	CCDS34858.1																																																																																				0.597	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		9	49	0	0	0	1	0	9	49				
BRD1	23774	broad.mit.edu	37	22	50216637	50216637	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:50216637G>T	ENST00000216267.8	-	1	1815	c.1329C>A	c.(1327-1329)gtC>gtA	p.V443V	BRD1_ENST00000404034.1_Silent_p.V443V|BRD1_ENST00000542442.1_Silent_p.V82V|BRD1_ENST00000457780.2_Silent_p.V443V|BRD1_ENST00000404760.1_Silent_p.V443V|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000342989.5_5'UTR	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	443					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGGTCGGCAGGACCGCGCAGG	0.567																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1327-1329)gtC>gtA		bromodomain containing 1							124.0	123.0	124.0					22																	50216637		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216637G>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1329C>A	22.37:g.50216637G>T						BRD1_ENST00000404034.1_Silent_p.V443V|BRD1_ENST00000542442.1_Silent_p.V82V|BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.V443V|BRD1_ENST00000404760.1_Silent_p.V443V|BRD1_ENST00000459821.1_5'UTR	p.V443V	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1815	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	443					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1329C>A	CCDS14080.1																																																																																				0.567	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		56	119	1	0	7.34454e-26	1	8.44623e-26	56	119				
TMTC4	84899	broad.mit.edu	37	13	101266664	101266664	+	Silent	SNP	G	G	A	rs201076381	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:101266664G>A	ENST00000376234.3	-	15	1989	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	TMTC4_ENST00000342624.5_Silent_p.H619H|TMTC4_ENST00000328767.5_Silent_p.H489H	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	600						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGCATCCACGTGGCGATTGA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		16139	0.002		0.0	False		,,,				2504	0.0					ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1855-1857)caC>caT		transmembrane and tetratricopeptide repeat containing 4		G	,	0,4406		0,0,2203	149.0	130.0	137.0		1800,1857	-2.5	0.1	13		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMTC4	NM_001079669.1,NM_032813.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	600/742,619/761	101266664	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101266664G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1800C>T	13.37:g.101266664G>A						TMTC4_ENST00000376234.3_Silent_p.H600H|TMTC4_ENST00000328767.5_Silent_p.H489H	p.H619H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			16	2115	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		600					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.1857C>T	CCDS41904.1																																																																																				0.413	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		10	93	0	0	0	1	0	10	93				
SAMHD1	25939	broad.mit.edu	37	20	35545400	35545400	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:35545400G>C	ENST00000262878.4	-	8	1104	c.905C>G	c.(904-906)tCt>tGt	p.S302C	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87C	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	302	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S302Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTTTATTAGATACTATCTC	0.363																																						ENST00000262878.4																			1	Substitution - Missense(1)	p.S302Y(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(904-906)tCt>tGt		SAM domain and HD domain 1							59.0	55.0	57.0					20																	35545400		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35545400G>C	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.905C>G	20.37:g.35545400G>C	ENSP00000262878:p.Ser302Cys					SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87C	p.S302C	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			8	1104	-		Myeloproliferative disorder(115;0.00878)	302			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.905C>G	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887946	0.91814	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.96491	-4.03;-4.03	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.206543	0.49916	D	0.000130	D	0.97077	0.9045	L	0.56340	1.77	0.58432	D	0.999992	D	0.57899	0.981	P	0.58577	0.841	D	0.96684	0.9506	10	0.49607	T	0.09	-9.7048	19.7192	0.96135	0.0:0.0:1.0:0.0	.	302	Q9Y3Z3	SAMH1_HUMAN	C	302;87	ENSP00000262878:S302C;ENSP00000362798:S87C	ENSP00000262878:S302C	S	-	2	0	SAMHD1	34978814	1.000000	0.71417	0.990000	0.47175	0.834000	0.47266	9.671000	0.98627	2.823000	0.97156	0.591000	0.81541	TCT		0.363	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		18	25	0	0	0	1	0	18	25				
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						ENST00000285039.7																			5	Substitution - Missense(5)	p.V1703A(5)	endometrium(2)|kidney(2)|lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5107-5109)gTc>gCc		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA	p.V1703A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5407	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			3	31	0	0	0	1	0	3	31				
SDHA	6389	broad.mit.edu	37	5	240531	240531	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr5:240531C>G	ENST00000264932.6	+	11	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	SDHA_ENST00000504309.1_Missense_Mutation_p.D497E|SDHA_ENST00000510361.1_Missense_Mutation_p.D449E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	497					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGAATCTTGACAAATTGAGAT	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1489-1491)gaC>gaG		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						36.0	40.0	38.0					5																	240531		2199	4299	6498	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:240531C>G	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1491C>G	5.37:g.240531C>G	ENSP00000264932:p.Asp497Glu					SDHA_ENST00000510361.1_Missense_Mutation_p.D449E|SDHA_ENST00000504309.1_Missense_Mutation_p.D497E	p.D497E	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		11	1606	+			497					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1491C>G	CCDS3853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	27.7|27.7	4.851538|4.851538	0.91355|0.91355	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	T;T;T|.	0.72505|.	-0.66;0.14;-0.63|.	4.95|4.95	4.95|4.95	0.65309|0.65309	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.74869|0.74869	0.3773|0.3773	M|M	0.74389|0.74389	2.26|2.26	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27679|.	0.185;0.004;0.176;0.018;0.003|.	B;B;B;B;B|.	0.28385|.	0.076;0.007;0.089;0.012;0.004|.	T|T	0.75405|0.75405	-0.3329|-0.3329	10|5	0.59425|.	D|.	0.04|.	.|.	16.0271|16.0271	0.80551|0.80551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	449;497;91;497;497|.	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040|.	.;.;.;.;DHSA_HUMAN|.	E|R	497;352;497;449|49	ENSP00000264932:D497E;ENSP00000426514:D497E;ENSP00000427703:D449E|.	ENSP00000264932:D497E|.	D|T	+|+	3|2	2|0	SDHA|SDHA	293531|293531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.979000|2.979000	0.49313|0.49313	2.442000|2.442000	0.82660|0.82660	0.650000|0.650000	0.86243|0.86243	GAC|ACA		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	73	0	0	0	1	0	4	73				
PKHD1	5314	broad.mit.edu	37	6	51889956	51889956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:51889956G>T	ENST00000371117.3	-	32	4927	c.4652C>A	c.(4651-4653)tCa>tAa	p.S1551*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1551*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1551	IPT/TIG 10.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAAAAAACTGACAGGTAGTG	0.403																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(4651-4653)tCa>tAa		polycystic kidney and hepatic disease 1 (autosomal recessive)							53.0	55.0	55.0					6																	51889956		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889956G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4652C>A	6.37:g.51889956G>T	ENSP00000360158:p.Ser1551*					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1551*	p.S1551*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	4927	-	Lung NSC(77;0.0605)		1551			IPT/TIG 10.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.4652C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	43	10.385977	0.99395	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.44	5.44	0.79542	.	0.303615	0.28790	N	0.014127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6877	0.51497	0.0808:0.0:0.9192:0.0	.	.	.	.	X	1551	.	ENSP00000341097:S1551X	S	-	2	0	PKHD1	51997915	0.978000	0.34361	0.131000	0.22000	0.171000	0.22731	3.622000	0.54217	2.552000	0.86080	0.650000	0.86243	TCA		0.403	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	51	1	0	0.0581538	1	0.0586639	10	51				
SLC35D3	340146	broad.mit.edu	37	6	137243603	137243603	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:137243603T>G	ENST00000331858.4	+	1	202	c.37T>G	c.(37-39)Tcg>Gcg	p.S13A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	13					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCTGGGCATCTCGGTGGCCAT	0.701																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(37-39)Tcg>Gcg		solute carrier family 35, member D3							25.0	24.0	24.0					6																	137243603		2192	4286	6478	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137243603T>G		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.37T>G	6.37:g.137243603T>G	ENSP00000333591:p.Ser13Ala						p.S13A	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	1	202	+	Colorectal(23;0.24)		13					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.37T>G	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	T	10.03	1.240072	0.22711	.	.	ENSG00000182747	ENST00000331858	T	0.55930	0.49	4.62	2.09	0.27110	.	0.316214	0.30538	N	0.009420	T	0.12347	0.0300	N	0.17082	0.46	0.32507	N	0.538012	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.16420	T	0.52	-2.397	7.0593	0.25117	0.1465:0.0:0.1532:0.7003	.	13	Q5M8T2	S35D3_HUMAN	A	13	ENSP00000333591:S13A	ENSP00000333591:S13A	S	+	1	0	SLC35D3	137285296	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	1.832000	0.39151	0.141000	0.18875	0.402000	0.26972	TCG		0.701	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		4	14	0	0	0	1	0	4	14				
MUC4	4585	broad.mit.edu	37	3	195511815	195511815	+	Silent	SNP	G	G	A	rs577495599	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:195511815G>A	ENST00000463781.3	-	2	7095	c.6636C>T	c.(6634-6636)acC>acT	p.T2212T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2212T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2212T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTGGTGACAGGAA	0.602													.|||	116	0.0231629	0.0257	0.0187	5008	,	,		15703	0.0		0.0497	False		,,,				2504	0.0194					ENST00000463781.3																			1	Substitution - coding silent(1)	p.T2212T(1)	urinary_tract(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6634-6636)acC>acT		mucin 4, cell surface associated							38.0	31.0	33.0					3																	195511815		690	1590	2280	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511815G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6636C>T	3.37:g.195511815G>A						MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2212T	p.T2212T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7095	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1001					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6636C>T	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	32	0	0	0	1	0	4	32				
ZNF425	155054	broad.mit.edu	37	7	148809307	148809307	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr7:148809307C>G	ENST00000378061.2	-	3	358	c.226G>C	c.(226-228)Gat>Cat	p.D76H	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTTGTTTTATCTAAGCATCCC	0.398																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(226-228)Gat>Cat		zinc finger protein 425							280.0	240.0	253.0					7																	148809307		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148809307C>G	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.226G>C	7.37:g.148809307C>G	ENSP00000367300:p.Asp76His					ZNF425_ENST00000484196.1_5'UTR	p.D76H	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	358	-	Melanoma(164;0.15)		76			KRAB.		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.226G>C	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	6.404	0.442579	0.12164	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.08370	3.1;4.89	3.26	2.37	0.29283	Krueppel-associated box (1);	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39702	-0.9601	9	0.44086	T	0.13	.	8.2867	0.31932	0.0:0.7553:0.2447:0.0	.	76	Q6IV72	ZN425_HUMAN	H	76;98	ENSP00000367300:D76H;ENSP00000420379:D98H	ENSP00000367300:D76H	D	-	1	0	ZNF425	148440240	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.051000	0.11885	0.569000	0.29329	-0.155000	0.13514	GAT		0.398	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		4	73	0	0	0	1	0	4	73				
FPR2	2358	broad.mit.edu	37	19	52272749	52272749	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52272749A>T	ENST00000598776.1	+	2	1610	c.838A>T	c.(838-840)Att>Ttt	p.I280F	FPR2_ENST00000598953.1_Missense_Mutation_p.I280F|FPR2_ENST00000340023.6_Missense_Mutation_p.I280F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	280					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTACAAAATCATTGACATCCT	0.498																																						ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(838-840)Att>Ttt		formyl peptide receptor 2							134.0	119.0	124.0					19																	52272749		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272749A>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.838A>T	19.37:g.52272749A>T	ENSP00000468897:p.Ile280Phe					FPR2_ENST00000340023.6_Missense_Mutation_p.I280F|FPR2_ENST00000598953.1_Missense_Mutation_p.I280F	p.I280F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1610	+			280					A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.838A>T	CCDS12840.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257877	0.22965	.	.	ENSG00000171049	ENST00000340023	T	0.37235	1.21	3.96	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.771452	0.11430	U	0.564942	T	0.32675	0.0837	L	0.52823	1.66	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.25813	-1.0121	10	0.34782	T	0.22	.	9.9496	0.41631	0.5459:0.4541:0.0:0.0	.	280	P25090	FPR2_HUMAN	F	280	ENSP00000340191:I280F	ENSP00000340191:I280F	I	+	1	0	FPR2	56964561	0.002000	0.14202	0.004000	0.12327	0.033000	0.12548	0.282000	0.18829	0.434000	0.26340	-0.714000	0.03626	ATT		0.498	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		13	45	0	0	0	1	0	13	45				
ATXN1	6310	broad.mit.edu	37	6	16327903	16327903	+	Missense_Mutation	SNP	C	C	A	rs3817753		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:16327903C>A	ENST00000244769.4	-	8	1575	c.639G>T	c.(637-639)caG>caT	p.Q213H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q213H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	213	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgatgct	0.667																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(637-639)caG>caT		ataxin 1							5.0	8.0	7.0					6																	16327903		1624	3504	5128	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327903C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.639G>T	6.37:g.16327903C>A	ENSP00000244769:p.Gln213His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q213H	p.Q213H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1575	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	213			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.639G>T	CCDS34342.1	221	0.10119047619047619	38	0.07723577235772358	47	0.1298342541436464	89	0.1555944055944056	47	0.06200527704485488	C	4.787	0.146322	0.09134	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.62941	-0.01;-0.01	.	.	.	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	5	0.45353	T	0.12	.	.	.	.	rs3817753	213	P54253	ATX1_HUMAN	H	213	ENSP00000244769:Q213H;ENSP00000416360:Q213H	ENSP00000244769:Q213H	Q	-	3	2	ATXN1	16435882	0.034000	0.19679	0.018000	0.16275	0.072000	0.16883	0.306000	0.19279	0.000000	0.14550	0.000000	0.15137	CAG		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		5	33	1	0	0.014758	1	0.0150192	5	33				
CYP1A2	1544	broad.mit.edu	37	15	75042815	75042815	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr15:75042815C>T	ENST00000343932.4	+	2	799	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	246					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TCGCTACCTGCCTAACCCTGC	0.552																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(736-738)Cct>Tct		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						127.0	125.0	126.0					15																	75042815		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042815C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.736C>T	15.37:g.75042815C>T	ENSP00000342007:p.Pro246Ser						p.P246S	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	799	+			246					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.736C>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427320	0.62733	.	.	ENSG00000140505	ENST00000343932	D	0.81821	-1.54	4.98	4.98	0.66077	.	0.048170	0.85682	D	0.000000	D	0.92756	0.7697	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94598	0.7793	10	0.87932	D	0	.	18.4252	0.90606	0.0:1.0:0.0:0.0	.	246	P05177-2	.	S	246	ENSP00000342007:P246S	ENSP00000342007:P246S	P	+	1	0	CYP1A2	72829868	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	7.419000	0.80179	2.580000	0.87095	0.561000	0.74099	CCT		0.552	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		33	116	0	0	0	1	0	33	116				
CAPZB	832	broad.mit.edu	37	1	19712043	19712043	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:19712043C>T	ENST00000375142.1	-	3	217	c.171G>A	c.(169-171)aaG>aaA	p.K57K	CAPZB_ENST00000375144.1_Silent_p.K45K|CAPZB_ENST00000264202.6_Silent_p.K57K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000264203.3_Silent_p.K83K|CAPZB_ENST00000401084.2_Silent_p.K57K|CAPZB_ENST00000433834.1_Silent_p.K86K	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	57					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		AAAGGTAATCCTTTCCCACCA	0.547																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(247-249)aaG>aaA		capping protein (actin filament) muscle Z-line, beta							96.0	97.0	97.0					1																	19712043		1991	4169	6160	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19712043C>T	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.171G>A	1.37:g.19712043C>T						CAPZB_ENST00000375144.1_Silent_p.K45K|CAPZB_ENST00000375142.1_Silent_p.K57K|CAPZB_ENST00000401084.2_Silent_p.K57K|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000264202.6_Silent_p.K57K|CAPZB_ENST00000433834.1_Silent_p.K86K	p.K83K			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	4	742	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	57					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.249G>A	CCDS55579.1																																																																																				0.547	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			20	27	0	0	0	1	0	20	27				
MCF2L	23263	broad.mit.edu	37	13	113748841	113748841	+	Silent	SNP	G	G	T	rs373771218		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:113748841G>T	ENST00000375608.3	+	28	3115	c.3057G>T	c.(3055-3057)acG>acT	p.T1019T	MCF2L_ENST00000423482.2_Silent_p.T987T|MCF2L_ENST00000434480.2_Silent_p.T995T|MCF2L_ENST00000375604.2_Silent_p.T1046T|MCF2L_ENST00000421756.1_Silent_p.T993T|MCF2L_ENST00000375601.3_Silent_p.T993T|MCF2L_ENST00000535094.2_Silent_p.T989T|MCF2L_ENST00000442652.2_Silent_p.T1019T|MCF2L_ENST00000397030.1_Silent_p.T1022T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1019					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAGCAAAACGTCCCACTCAC	0.622																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(3064-3066)acG>acT		MCF.2 cell line derived transforming sequence-like							38.0	41.0	40.0					13																	113748841		1562	3579	5141	SO:0001819	synonymous_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113748841G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.3057G>T	13.37:g.113748841G>T						MCF2L_ENST00000423482.2_Silent_p.T987T|MCF2L_ENST00000421756.1_Silent_p.T993T|MCF2L_ENST00000442652.2_Silent_p.T1019T|MCF2L_ENST00000434480.2_Silent_p.T995T|MCF2L_ENST00000375604.2_Silent_p.T1046T|MCF2L_ENST00000375601.3_Silent_p.T993T|MCF2L_ENST00000535094.2_Silent_p.T989T|MCF2L_ENST00000375608.3_Silent_p.T1019T	p.T1022T			O15068	MCF2L_HUMAN			27	3103	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	1019					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Silent	SNP	ENST00000375608.3	37	c.3066G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.015|0.015	-1.552158|-1.552158	0.00918|0.00918	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963;ENST00000420013|ENST00000397017;ENST00000453297;ENST00000439475;ENST00000441756	.|.	.|.	.|.	4.66|4.66	-9.32|-9.32	0.00643|0.00643	.|.	.|.	.|.	.|.	.|.	T|T	0.46425|0.46425	0.1392|0.1392	.|.	.|.	.|.	0.46901|0.46901	D|D	0.999249|0.999249	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59899|0.59899	-0.7367|-0.7367	4|4	.|.	.|.	.|.	.|.	7.5532|7.5532	0.27808|0.27808	0.3238:0.0633:0.48:0.1329|0.3238:0.0633:0.48:0.1329	.|.	.|.	.|.	.|.	L|F	272;160;61|675;200;126;18	.|.	.|.	R|V	+|+	2|1	0|0	MCF2L|MCF2L	112796842|112796842	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.275000|-4.275000	0.00261|0.00261	-3.869000|-3.869000	0.00097|0.00097	-4.128000|-4.128000	0.00010|0.00010	CGT|GTC		0.622	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			5	39	1	0	0.000602214	1	0.000635364	5	39				
GPR15	2838	broad.mit.edu	37	3	98251260	98251260	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:98251260G>A	ENST00000284311.3	+	1	518	c.383G>A	c.(382-384)aGt>aAt	p.S128N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	128					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTTGCATGAGTGTTGACCGC	0.522																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(382-384)aGt>aAt		G protein-coupled receptor 15							75.0	66.0	69.0					3																	98251260		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251260G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.383G>A	3.37:g.98251260G>A	ENSP00000284311:p.Ser128Asn						p.S128N	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	518	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	128					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.383G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540291	0.85917	.	.	ENSG00000154165	ENST00000284311	T	0.81330	-1.48	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.92312	0.7561	H	0.94620	3.56	0.49687	D	0.999817	D	0.89917	1.0	D	0.85130	0.997	D	0.94066	0.7331	10	0.87932	D	0	-15.1051	15.8177	0.78615	0.0:0.0:1.0:0.0	.	128	P49685	GPR15_HUMAN	N	128	ENSP00000284311:S128N	ENSP00000284311:S128N	S	+	2	0	GPR15	99733950	1.000000	0.71417	0.961000	0.40146	0.977000	0.68977	9.657000	0.98554	2.682000	0.91365	0.591000	0.81541	AGT		0.522	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			19	37	0	0	0	1	0	19	37				
SLC8A1	6546	broad.mit.edu	37	2	40656143	40656143	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:40656143G>A	ENST00000403092.1	-	2	1311	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000406785.2_Silent_p.A426A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	426	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A426A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAATGGTAAGGGCCACAGTAC	0.438																																						ENST00000406785.1																			1	Substitution - coding silent(1)	p.A426A(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1276-1278)gcC>gcT		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						105.0	88.0	94.0					2																	40656143		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656143G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1278C>T	2.37:g.40656143G>A						SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000403092.1_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A	p.A426A			P32418	NAC1_HUMAN			2	1467	-			426			Calx-beta 1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.1278C>T	CCDS1806.1																																																																																				0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	111	0	0	0	1	0	11	111				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	rs121912666		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:7578190T>G	ENST00000269305.4	-	6	848	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S|TP53_ENST00000420246.2_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|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)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tCt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>C	17.37:g.7578190T>G	ENSP00000269305:p.Tyr220Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000269305.4_Missense_Mutation_p.Y220S|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S	p.Y220S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447753	0.84101	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	A	1	D;D;D;D;D;D;D	0.89917	1.0;0.994;0.997;1.0;0.995;0.968;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.921;0.963;1.0;0.977;0.926;1.0	D	0.96735	0.9542	9	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220S;ENSP00000352610:Y220S;ENSP00000269305:Y220S;ENSP00000398846:Y220S;ENSP00000391127:Y220S;ENSP00000391478:Y220S;ENSP00000425104:Y88S;ENSP00000423862:Y127S	ENSP00000269305:Y220S	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	4	0	0	0	1	0	29	4				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514963	95514963	+	RNA	SNP	G	G	A	rs114749649	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:95514963G>A	ENST00000432432.2	-	0	694				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		GCCTATCAACGGCATGTGTAC	0.328													.|||	2	0.000399361	0.0008	0.0	5008	,	,		21192	0.0		0.0	False		,,,				2504	0.001					ENST00000432432.2																			0																																																			0							g.chr2:95514963G>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514963G>A								NR_040113.1						0	694	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.328	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	131	0	0	0	1	0	4	131				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	108	0	0	0	1	0	4	108				
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	lincRNA	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572																																						ENST00000565869.1																			0																																																			0							g.chr15:78212571G>A																													15.37:g.78212571G>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	32	0	0	0	1	0	4	32				
GPR112	139378	broad.mit.edu	37	X	135475715	135475715	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:135475715G>A	ENST00000394143.1	+	18	8347	c.8056G>A	c.(8056-8058)Gcc>Acc	p.A2686T	GPR112_ENST00000287534.4_Missense_Mutation_p.A2439T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2481T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2481T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2686T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2686	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTTCACTGTGCCTTTTGGGA	0.358																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8056-8058)Gcc>Acc		G protein-coupled receptor 112							183.0	159.0	167.0					X																	135475715		2202	4298	6500	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135475715G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8056G>A	X.37:g.135475715G>A	ENSP00000377699:p.Ala2686Thr					GPR112_ENST00000394141.1_Missense_Mutation_p.A2481T|GPR112_ENST00000370652.1_Missense_Mutation_p.A2686T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2439T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2481T	p.A2686T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			18	8347	+	Acute lymphoblastic leukemia(192;0.000127)		2686			GPS.		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.8056G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556710	0.65425	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.57	4.71	0.59529	GPS domain (3);	.	.	.	.	T	0.80215	0.4582	M	0.70787	2.145	0.23304	N	0.99794	D;P	0.67145	0.996;0.95	D;D	0.74674	0.944;0.984	T	0.71656	-0.4527	9	0.66056	D	0.02	.	13.278	0.60198	0.0792:0.0:0.9208:0.0	.	2481;2686	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	T	2686;2686;2481;2439;2481	ENSP00000377699:A2686T;ENSP00000359686:A2686T;ENSP00000416526:A2481T;ENSP00000287534:A2439T;ENSP00000377697:A2481T	ENSP00000287534:A2439T	A	+	1	0	GPR112	135303381	1.000000	0.71417	0.996000	0.52242	0.554000	0.35429	5.357000	0.66058	1.123000	0.41961	0.600000	0.82982	GCC		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			3	8	0	0	0	1	0	3	8				
ANO2	57101	broad.mit.edu	37	12	5708651	5708651	+	Splice_Site	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:5708651C>G	ENST00000356134.5	-	22	2306	c.2235G>C	c.(2233-2235)atG>atC	p.M745I	ANO2_ENST00000546188.1_Splice_Site_p.M745I|ANO2_ENST00000327087.8_Splice_Site_p.M744I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	749					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTTCTCACTCATTTCCATGT	0.542																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.e21+1		anoctamin 2							222.0	227.0	225.0					12																	5708651		2175	4273	6448	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5708651C>G	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2236+1G>C	12.37:g.5708651C>G						ANO2_ENST00000327087.8_Splice_Site_p.M744_splice|ANO2_ENST00000356134.5_Splice_Site_p.M745_splice	p.M745_splice			Q9NQ90	ANO2_HUMAN			21	2306	-			749					C4N787|Q9H847	Splice_Site	SNP	ENST00000356134.5	37	c.2236_splice		.	.	.	.	.	.	.	.	.	.	C	15.96	2.987669	0.53934	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66280	-0.2;-0.2;-0.2	5.55	5.55	0.83447	.	0.140639	0.64402	D	0.000009	T	0.74794	0.3763	M	0.87381	2.88	0.54753	D	0.999989	P	0.40553	0.721	P	0.46253	0.509	T	0.79014	-0.1976	10	0.62326	D	0.03	.	16.9868	0.86341	0.0:1.0:0.0:0.0	.	744	Q9NQ90-3	.	I	744;745;745;749	ENSP00000314048:M744I;ENSP00000348453:M745I;ENSP00000440981:M745I	ENSP00000314048:M744I	M	-	3	0	ANO2	5578912	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	6.168000	0.71908	2.611000	0.88343	0.563000	0.77884	ATG		0.542	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Missense_Mutation	18	204	0	0	0	1	0	18	204				
IPO8	10526	broad.mit.edu	37	12	30834617	30834617	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:30834617A>T	ENST00000256079.4	-	4	796	c.458T>A	c.(457-459)cTg>cAg	p.L153Q		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	153					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGTTGATACAGGCATAATAA	0.423																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(457-459)cTg>cAg		importin 8							117.0	107.0	110.0					12																	30834617		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30834617A>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.458T>A	12.37:g.30834617A>T	ENSP00000256079:p.Leu153Gln						p.L153Q	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			4	796	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		153					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.458T>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463488	0.84425	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.79845	-1.31;-1.31	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.90896	0.7139	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.92751	0.6216	10	0.72032	D	0.01	-13.4719	14.9217	0.70843	1.0:0.0:0.0:0.0	.	153	O15397	IPO8_HUMAN	Q	153;91	ENSP00000256079:L153Q;ENSP00000440979:L91Q	ENSP00000256079:L153Q	L	-	2	0	IPO8	30725884	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	8.802000	0.91910	2.122000	0.65172	0.482000	0.46254	CTG		0.423	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		14	86	0	0	0	1	0	14	86				
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	446	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(1336-1338)cGg>cAg		zinc finger, X-linked, duplicated B							63.0	61.0	62.0					X																	57619818		2203	4300	6503	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619818G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1337G>A	X.37:g.57619818G>A	ENSP00000364023:p.Arg446Gln						p.R446Q	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	1550	+			446			Required for interaction with ZXDC (By similarity).		A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.1337G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	17.27	3.346960	0.61183	.	.	ENSG00000198455	ENST00000374888	T	0.18810	2.19	3.64	2.77	0.32553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.52126	1.63	0.52501	D	0.999956	D	0.76494	0.999	D	0.80764	0.994	T	0.05632	-1.0873	10	0.87932	D	0	.	8.2851	0.31924	0.1245:0.0:0.8755:0.0	.	446	P98169	ZXDB_HUMAN	Q	446	ENSP00000364023:R446Q	ENSP00000364023:R446Q	R	+	2	0	ZXDB	57636543	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	8.599000	0.90856	0.714000	0.32081	0.483000	0.47432	CGG		0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		18	47	0	0	0	1	0	18	47				
GPRC5A	9052	broad.mit.edu	37	12	13061636	13061636	+	Silent	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:13061636A>G	ENST00000014914.5	+	2	1343	c.453A>G	c.(451-453)gaA>gaG	p.E151E	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	151					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TCGCTATTGAATATATTGTCC	0.527																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(451-453)gaA>gaG		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						196.0	186.0	190.0					12																	13061636		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061636A>G	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.453A>G	12.37:g.13061636A>G						GPRC5A_ENST00000542056.1_Intron	p.E151E	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1343	+		Prostate(47;0.141)	151					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.453A>G	CCDS8657.1																																																																																				0.527	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			204	131	0	0	0	1	0	204	131				
MMEL1	79258	broad.mit.edu	37	1	2537800	2537800	+	Missense_Mutation	SNP	C	C	G	rs559978146		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2537800C>G	ENST00000378412.3	-	8	798	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.E204Q			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	213						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTCCCACTCGAGTCCTGGG	0.657																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(610-612)Gag>Cag		membrane metallo-endopeptidase-like 1							29.0	28.0	28.0					1																	2537800		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2537800C>G	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.637G>C	1.37:g.2537800C>G	ENSP00000367668:p.Glu213Gln					MMEL1_ENST00000378412.3_Missense_Mutation_p.E213Q|MMEL1_ENST00000502556.1_Intron	p.E204Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	8	850	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	213					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.610G>C	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	N	2.415	-0.334355	0.05278	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.74002	-0.8;-0.8	4.91	-7.32	0.01436	Peptidase M13 (1);	1.240900	0.05113	N	0.489346	T	0.40719	0.1128	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22103	-1.0226	10	0.44086	T	0.13	-2.9432	3.0732	0.06237	0.0909:0.201:0.3465:0.3617	.	213	Q495T6	MMEL1_HUMAN	Q	204;213	ENSP00000288709:E204Q;ENSP00000367668:E213Q	ENSP00000288709:E204Q	E	-	1	0	MMEL1	2527660	0.000000	0.05858	0.092000	0.20876	0.084000	0.17831	-1.416000	0.02467	-0.725000	0.04901	-1.062000	0.02293	GAG		0.657	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		10	22	0	0	0	1	0	10	22				
MTHFD2L	441024	broad.mit.edu	37	4	75065519	75065519	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:75065519G>C	ENST00000395759.2	+	4	487	c.460G>C	c.(460-462)Gat>Cat	p.D154H	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D19H|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D96H	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	154					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGACCACGTTGATGAGCGAAC	0.313																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(460-462)Gat>Cat		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							61.0	64.0	63.0					4																	75065519		2203	4300	6503	SO:0001583	missense	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75065519G>C	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.460G>C	4.37:g.75065519G>C	ENSP00000379108:p.Asp154His					MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D19H|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D96H	p.D154H	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		4	487	+			96					Q6P079|Q8N560	Missense_Mutation	SNP	ENST00000395759.2	37	c.460G>C	CCDS47075.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696997	0.30142	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.34859	1.36;1.73;1.34;1.37;1.75	4.98	4.98	0.66077	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.239694	0.43416	N	0.000573	T	0.64159	0.2573	M	0.91406	3.205	0.39088	D	0.961036	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.919	T	0.72043	-0.4409	10	0.72032	D	0.01	.	9.2113	0.37320	0.0958:0.0:0.9042:0.0	.	154;96	Q9H903;Q9H903-3	MTD2L_HUMAN;.	H	19;154;96;96;96	ENSP00000405692:D19H;ENSP00000379108:D154H;ENSP00000330982:D96H;ENSP00000352012:D96H;ENSP00000321984:D96H	ENSP00000321984:D96H	D	+	1	0	MTHFD2L	75284383	1.000000	0.71417	0.996000	0.52242	0.063000	0.16089	2.426000	0.44731	2.586000	0.87340	0.655000	0.94253	GAT		0.313	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		17	39	0	0	0	1	0	17	39				
OR12D2	26529	broad.mit.edu	37	6	29365088	29365088	+	Silent	SNP	T	T	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:29365088T>C	ENST00000383555.2	+	1	673	c.612T>C	c.(610-612)atT>atC	p.I204I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CGGGGACAATTGCCATGGGCC	0.443																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(610-612)atT>atC		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							158.0	161.0	160.0					6																	29365088		1511	2709	4220	SO:0001819	synonymous_variant	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365088T>C		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.612T>C	6.37:g.29365088T>C						OR5V1_ENST00000377154.1_Intron	p.I204I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	673	+			204					B0S862|Q5SUN9|Q6IET9	Silent	SNP	ENST00000383555.2	37	c.612T>C	CCDS4659.1																																																																																				0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			6	133	0	0	0	1	0	6	133				
ATP13A3	79572	broad.mit.edu	37	3	194181555	194181555	+	Silent	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:194181555A>G	ENST00000439040.1	-	4	848	c.57T>C	c.(55-57)atT>atC	p.I19I	ATP13A3_ENST00000256031.4_Silent_p.I19I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	19						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGTAACCATAAATCTCCTGCA	0.403																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(55-57)atT>atC		ATPase type 13A3							60.0	56.0	58.0					3																	194181555		1879	4124	6003	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181555A>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.57T>C	3.37:g.194181555A>G						ATP13A3_ENST00000256031.4_Silent_p.I19I	p.I19I			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	848	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	19					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.57T>C	CCDS43187.1																																																																																				0.403	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		14	104	0	0	0	1	0	14	104				
CCDC115	84317	broad.mit.edu	37	2	131099731	131099731	+	5'UTR	SNP	C	C	T	rs375455175		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:131099731C>T	ENST00000259229.2	-	0	191				IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000437688.2_Silent_p.R24R|CCDC115_ENST00000409127.1_Silent_p.R24R|IMP4_ENST00000409935.1_5'Flank	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115							endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CCACCTTCTTCCTTGTCACCC	0.627																																						ENST00000437688.2																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7						c.(70-72)agG>agA		coiled-coil domain containing 115		C		0,4406		0,0,2203	23.0	25.0	24.0			-1.1	0.0	2		24	2,8598		0,2,4298	no	utr-5	CCDC115	NM_032357.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154			131099731	2,13004	2203	4300	6503	SO:0001623	5_prime_UTR_variant	84317					endosome|lysosome		g.chr2:131099731C>T	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.-33G>A	2.37:g.131099731C>T						CCDC115_ENST00000259229.2_5'UTR|CCDC115_ENST00000409127.1_Silent_p.R24R	p.R24R			Q96NT0	CC115_HUMAN			1	180	-	Colorectal(110;0.1)		0					B4DJ47|Q9BR88	Silent	SNP	ENST00000259229.2	37	c.72G>A	CCDS2159.1																																																																																				0.627	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254524.2	NM_032357		5	8	0	0	0	1	0	5	8				
PRDM11	56981	broad.mit.edu	37	11	45203391	45203391	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:45203391C>G	ENST00000530656.1	+	2	176	c.176C>G	c.(175-177)aCg>aGg	p.T59R	PRDM11_ENST00000263765.4_Missense_Mutation_p.T59R|PRDM11_ENST00000424263.2_Missense_Mutation_p.T25R			Q9NQV5	PRD11_HUMAN	PR domain containing 11	59				KTEVCSPLRD -> NPS (in Ref. 1; AAF87244). {ECO:0000305}.			methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GTGGTGAAGACGGAGGTCTGC	0.622																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(175-177)aCg>aGg		PR domain containing 11							83.0	68.0	73.0					11																	45203391		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45203391C>G	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.176C>G	11.37:g.45203391C>G	ENSP00000435976:p.Thr59Arg					PRDM11_ENST00000530656.1_Missense_Mutation_p.T59R|PRDM11_ENST00000424263.2_Missense_Mutation_p.T25R	p.T59R			Q9NQV5	PRD11_HUMAN			3	425	+			59	KTEVCSPLRD -> NPS (in Ref. 1; AAF87244).				Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.176C>G		.	.	.	.	.	.	.	.	.	.	C	20.3	3.964140	0.74131	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000003	T	0.57932	0.2087	L	0.36672	1.1	0.36047	D	0.840526	D	0.89917	1.0	D	0.91635	0.999	T	0.64193	-0.6465	10	0.44086	T	0.13	-14.3311	13.6261	0.62165	0.0:0.8448:0.1552:0.0	.	59	Q9NQV5	PRD11_HUMAN	R	59;59;25;25	ENSP00000263765:T59R;ENSP00000435976:T59R;ENSP00000431898:T25R;ENSP00000394314:T25R	ENSP00000263765:T59R	T	+	2	0	PRDM11	45159967	0.995000	0.38212	0.994000	0.49952	0.991000	0.79684	3.190000	0.50973	2.472000	0.83506	0.491000	0.48974	ACG		0.622	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		33	7	0	0	0	1	0	33	7				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	81	0	0	0	1	0	4	81				
CCDC66	285331	broad.mit.edu	37	3	56647723	56647723	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:56647723G>T	ENST00000394672.3	+	11	1581	c.1511G>T	c.(1510-1512)cGt>cTt	p.R504L	CCDC66_ENST00000436465.2_Missense_Mutation_p.R504L|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470L	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	504					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCACAGGAACGTGAAGAGATG	0.398																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1510-1512)cGt>cTt		coiled-coil domain containing 66							185.0	174.0	178.0					3																	56647723		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56647723G>T	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1511G>T	3.37:g.56647723G>T	ENSP00000378167:p.Arg504Leu					CCDC66_ENST00000436465.2_Missense_Mutation_p.R504L|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470L	p.R504L	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	11	1581	+			504					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1511G>T	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865783	0.71949	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.49	2.75	0.32379	.	0.696627	0.13836	N	0.359405	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	P	0.46064	0.872	P	0.46685	0.524	T	0.55921	-0.8064	10	0.72032	D	0.01	-8.2949	7.0024	0.24817	0.4187:0.0:0.5813:0.0	.	504	A2RUB6	CCD66_HUMAN	L	460;504;470;504	ENSP00000401451:R460L;ENSP00000378167:R504L;ENSP00000326050:R470L;ENSP00000404320:R504L	ENSP00000326050:R470L	R	+	2	0	CCDC66	56622763	1.000000	0.71417	0.741000	0.31004	0.924000	0.55760	2.005000	0.40864	0.298000	0.22638	0.484000	0.47621	CGT		0.398	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		39	41	1	0	9.8876e-21	1	1.11478e-20	39	41				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184263	14184263	+	RNA	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:14184263G>A	ENST00000581935.1	+	0	952							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TACTTTTAAAGGAGCATTAAA	0.264																																						ENST00000581935.1																			0				lung(3)	3																																														0							g.chr18:14184263G>A	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184263G>A														0	952	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.264	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			5	20	0	0	0	1	0	5	20				
AGAP5	729092	broad.mit.edu	37	10	75457378	75457378	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:75457378C>T	ENST00000374094.4	-	1	176	c.136G>A	c.(136-138)Gct>Act	p.A46T	RP11-574K11.28_ENST00000580790.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Missense_Mutation_p.A46T	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	46					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACAGCAGCAGCCATGGGCGCT	0.582																																						ENST00000443782.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(136-138)Gct>Act		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							57.0	66.0	64.0					10																	75457378		692	1591	2283	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457378C>T		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.136G>A	10.37:g.75457378C>T	ENSP00000363207:p.Ala46Thr					AGAP5_ENST00000374094.4_Missense_Mutation_p.A46T|RP11-464F9.1_ENST00000399449.3_RNA	p.A46T			A6NIR3	AGAP5_HUMAN			1	261	-			46					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.136G>A	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	13.92	2.380950	0.42207	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88586	-2.4;-2.4	1.4	0.404	0.16355	.	0.062531	0.64402	D	0.000004	D	0.88470	0.6445	L	0.39898	1.24	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.78630	-0.2129	10	0.52906	T	0.07	.	5.3394	0.15974	0.0:0.3798:0.6202:0.0	.	46	A6NIR3	AGAP5_HUMAN	T	46	ENSP00000363207:A46T;ENSP00000402792:A46T	ENSP00000363207:A46T	A	-	1	0	AGAP5	75127384	0.004000	0.15560	0.023000	0.16930	0.097000	0.18754	0.094000	0.15107	0.140000	0.18849	0.184000	0.17185	GCT		0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		29	119	0	0	0	1	0	29	119				
HIST1H2AB	8335	broad.mit.edu	37	6	26033563	26033563	+	Silent	SNP	G	G	A	rs370267838	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:26033563G>A	ENST00000259791.2	-	1	233	c.234C>T	c.(232-234)cgC>cgT	p.R78R	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	78						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGGATGATGCGGGTCTTCT	0.622													G|||	2	0.000399361	0.0	0.0	5008	,	,		16617	0.001		0.0	False		,,,				2504	0.001					ENST00000259791.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(232-234)cgC>cgT		histone cluster 1, H2ab		G		0,4406		0,0,2203	70.0	73.0	72.0		234	2.5	1.0	6		72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HIST1H2AB	NM_003513.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		78/131	26033563	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8335				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26033563G>A	X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.234C>T	6.37:g.26033563G>A							p.R78R	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN			1	233	-			78					P28001|Q76P63	Silent	SNP	ENST00000259791.2	37	c.234C>T	CCDS4574.1																																																																																				0.622	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513		34	106	0	0	0	1	0	34	106				
TRPM8	79054	broad.mit.edu	37	2	234847659	234847659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:234847659C>A	ENST00000324695.4	+	5	406	c.366C>A	c.(364-366)tgC>tgA	p.C122*	TRPM8_ENST00000409625.1_Nonsense_Mutation_p.C45*|TRPM8_ENST00000355722.4_Nonsense_Mutation_p.C72*|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	122					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCTGTCCTGCGACACGGACG	0.547																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(364-366)tgC>tgA		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						83.0	84.0	84.0					2																	234847659		2203	4300	6503	SO:0001587	stop_gained	79054					integral to membrane		g.chr2:234847659C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.366C>A	2.37:g.234847659C>A	ENSP00000323926:p.Cys122*					TRPM8_ENST00000409625.1_Nonsense_Mutation_p.C45*|TRPM8_ENST00000355722.4_Nonsense_Mutation_p.C72*|TRPM8_ENST00000433712.2_5'UTR	p.C122*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	5	406	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	122					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Nonsense_Mutation	SNP	ENST00000324695.4	37	c.366C>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	c	14.05	2.420958	0.42918	.	.	ENSG00000144481	ENST00000324695;ENST00000355722;ENST00000409625	.	.	.	5.62	-6.72	0.01755	.	0.150036	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.0421	12.5294	0.56106	0.0924:0.6224:0.0:0.2852	.	.	.	.	X	122;72;45	.	ENSP00000323926:C122X	C	+	3	2	TRPM8	234512398	0.002000	0.14202	0.883000	0.34634	0.209000	0.24338	-1.423000	0.02450	-1.254000	0.02485	-0.480000	0.04831	TGC		0.547	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		54	27	1	0	3.16986e-14	1	3.53917e-14	54	27				
SNTA1	6640	broad.mit.edu	37	20	31996508	31996508	+	Splice_Site	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:31996508A>T	ENST00000217381.2	-	7	1695	c.1424T>A	c.(1423-1425)aTc>aAc	p.I475N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	475	SU.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCACTCACGATCTCGCCTTC	0.622																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.e7+1		syntrophin, alpha 1							99.0	97.0	98.0					20																	31996508		2203	4300	6503	SO:0001630	splice_region_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:31996508A>T	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1425+1T>A	20.37:g.31996508A>T							p.I475_splice	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			7	1695	-			475			SU.		A8K7H9|B4DX40|E1P5N1|Q16438	Splice_Site	SNP	ENST00000217381.2	37	c.1425_splice	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401430	0.83120	.	.	ENSG00000101400	ENST00000217381	D	0.85773	-2.03	4.7	4.7	0.59300	.	0.066144	0.64402	D	0.000018	D	0.90109	0.6910	M	0.64997	1.995	0.54753	D	0.999989	D;D	0.76494	0.978;0.999	P;D	0.67231	0.694;0.95	D	0.90899	0.4767	10	0.62326	D	0.03	-1.9036	13.8445	0.63459	1.0:0.0:0.0:0.0	.	400;475	B4DX40;Q13424	.;SNTA1_HUMAN	N	475	ENSP00000217381:I475N	ENSP00000217381:I475N	I	-	2	0	SNTA1	31460169	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	8.996000	0.93539	1.751000	0.51876	0.379000	0.24179	ATC		0.622	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098	Missense_Mutation	6	226	0	0	0	1	0	6	226				
CEP131	22994	broad.mit.edu	37	17	79180597	79180597	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:79180597C>T	ENST00000269392.4	-	5	709	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AZI1_ENST00000575907.1_Silent_p.P154P|AZI1_ENST00000450824.2_Silent_p.P154P|AZI1_ENST00000374782.3_Silent_p.P154P|AZI1_ENST00000570482.2_5'Flank	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		154					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTTCCTCCGCGGGCCCGCTG	0.632																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(460-462)ccG>ccA		5-azacytidine induced 1							70.0	82.0	78.0					17																	79180597		2203	4300	6503	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79180597C>T																												ENST00000269392.4:c.462G>A	17.37:g.79180597C>T						AZI1_ENST00000374782.3_Silent_p.P154P|AZI1_ENST00000575907.1_Silent_p.P154P|AZI1_ENST00000450824.2_Silent_p.P154P	p.P154P	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		5	709	-	all_neural(118;0.0804)|Melanoma(429;0.242)		154					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.462G>A																																																																																					0.632	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			9	72	0	0	0	1	0	9	72				
RLIM	51132	broad.mit.edu	37	X	73811853	73811853	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:73811853A>C	ENST00000332687.6	-	4	1515	c.1297T>G	c.(1297-1299)Tca>Gca	p.S433A	RLIM_ENST00000349225.2_Missense_Mutation_p.S433A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	433	Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCGATTTGAGACTGAGCCA	0.458																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1297-1299)Tca>Gca		ring finger protein, LIM domain interacting							84.0	83.0	83.0					X																	73811853		2203	4299	6502	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811853A>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1297T>G	X.37:g.73811853A>C	ENSP00000328059:p.Ser433Ala					RLIM_ENST00000349225.2_Missense_Mutation_p.S433A	p.S433A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1515	-			433			Ser-rich.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1297T>G	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.806034	0.00074	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08193	3.12;3.12	5.5	0.7	0.18099	.	0.549844	0.16670	N	0.204383	T	0.04497	0.0123	N	0.17082	0.46	0.20307	N	0.999917	B	0.15141	0.012	B	0.17433	0.018	T	0.46527	-0.9185	10	0.10636	T	0.68	0.3209	9.3951	0.38397	0.4324:0.0:0.5676:0.0	.	433	Q9NVW2	RNF12_HUMAN	A	433	ENSP00000328059:S433A;ENSP00000253571:S433A	ENSP00000328059:S433A	S	-	1	0	RLIM	73728578	1.000000	0.71417	0.729000	0.30791	0.044000	0.14063	1.854000	0.39368	0.075000	0.16796	-0.183000	0.12914	TCA		0.458	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		28	12	0	0	0	1	0	28	12				
PXDNL	137902	broad.mit.edu	37	8	52320720	52320720	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:52320720T>A	ENST00000356297.4	-	17	3564	c.3464A>T	c.(3463-3465)gAc>gTc	p.D1155V	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1155V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1155					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACTCTGAAGTCAACATATGG	0.433																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(3463-3465)gAc>gTc		peroxidasin homolog (Drosophila)-like							89.0	89.0	89.0					8																	52320720		1833	4096	5929	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320720T>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3464A>T	8.37:g.52320720T>A	ENSP00000348645:p.Asp1155Val					PXDNL_ENST00000543296.1_Missense_Mutation_p.D1155V	p.D1155V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	3564	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1155					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3464A>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.162|7.162	0.585803|0.585803	0.13749|0.13749	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.74526|.	-0.85;-0.85|.	3.51|3.51	3.51|3.51	0.40186|0.40186	.|.	0.000000|.	0.56097|.	D|.	0.000037|.	T|T	0.70020|0.70020	0.3176|0.3176	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	P|.	0.42871|.	0.792|.	P|.	0.46419|.	0.516|.	T|T	0.69643|0.69643	-0.5090|-0.5090	10|5	0.33940|.	T|.	0.23|.	.|.	9.9704|9.9704	0.41749|0.41749	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1155|.	A1KZ92|.	PXDNL_HUMAN|.	V|S	1155|274	ENSP00000348645:D1155V;ENSP00000444865:D1155V|.	ENSP00000348645:D1155V|.	D|T	-|-	2|1	0|0	PXDNL|PXDNL	52483273|52483273	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.158000|0.158000	0.22134|0.22134	6.987000|6.987000	0.76206|0.76206	1.218000|1.218000	0.43458|0.43458	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.433	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		24	85	0	0	0	1	0	24	85				
LINC01410	103352539	broad.mit.edu	37	9	66459863	66459863	+	lincRNA	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:66459863G>A	ENST00000424345.1	+	0	123				RNA5SP283_ENST00000365604.1_RNA																							tttcctggatggtgttgatgc	0.363																																						ENST00000424345.1																			0																																																			0							g.chr9:66459863G>A																													9.37:g.66459863G>A														0	123	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.363	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	7	0	0	0	1	0	3	7				
RANBP2	5903	broad.mit.edu	37	2	109398713	109398713	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:109398713A>G	ENST00000283195.6	+	27	9016	c.8890A>G	c.(8890-8892)Aca>Gca	p.T2964A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2964	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTTTGGCATACAATGAAGAA	0.373																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(8890-8892)Aca>Gca		RAN binding protein 2							101.0	105.0	104.0					2																	109398713		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109398713A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8890A>G	2.37:g.109398713A>G	ENSP00000283195:p.Thr2964Ala						p.T2964A	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			27	9016	+			2964			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.8890A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013047	0.35511	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.41758	0.99	5.44	4.26	0.50523	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.27349	0.0671	N	0.16266	0.395	0.24919	N	0.991991	B	0.28128	0.201	B	0.24701	0.055	T	0.13255	-1.0516	9	0.26408	T	0.33	-3.6282	12.1563	0.54079	0.8719:0.0:0.0:0.1281	.	2964	P49792	RBP2_HUMAN	A	1988;2964	ENSP00000283195:T2964A	ENSP00000283195:T2964A	T	+	1	0	RANBP2	108765145	1.000000	0.71417	0.485000	0.27403	0.968000	0.65278	5.381000	0.66208	0.964000	0.38108	0.533000	0.62120	ACA		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		20	26	0	0	0	1	0	20	26				
MUC4	4585	broad.mit.edu	37	3	195511283	195511283	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:195511283C>T	ENST00000463781.3	-	2	7627	c.7168G>A	c.(7168-7170)Gct>Act	p.A2390T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A2390T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGCGTCGGTGACA	0.592																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.A2390T(2)	kidney(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7168-7170)Gct>Act		mucin 4, cell surface associated							28.0	31.0	30.0					3																	195511283		681	1586	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511283C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7168G>A	3.37:g.195511283C>T	ENSP00000417498:p.Ala2390Thr					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T	p.A2390T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7627	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	148					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.7168G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	5.006	0.186814	0.09547	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.47	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.02539	-0.55	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.32428	-0.9907	7	.	.	.	.	4.7077	0.12858	0.3536:0.6463:0.0:1.0E-4	.	2390	E7ESK3	.	T	2390	ENSP00000417498:A2390T;ENSP00000420243:A2390T	.	A	-	1	0	MUC4	196995678	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-3.000000	0.00653	-0.833000	0.04245	0.064000	0.15345	GCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	31	0	0	0	1	0	4	31				
TMEM185B	79134	broad.mit.edu	37	2	120980196	120980196	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:120980196G>C	ENST00000426077.2	-	1	788	c.357C>G	c.(355-357)ctC>ctG	p.L119L		NM_024121.2	NP_077026.2	Q9H7F4	T185B_HUMAN	transmembrane protein 185B	119						integral component of membrane (GO:0016021)											ACACGAAGAAGAGAGGCATGA	0.612																																						ENST00000426077.2																			0											c.(355-357)ctC>ctG		transmembrane protein 185B																																				SO:0001819	synonymous_variant	79134					integral to membrane		g.chr2:120980196G>C	AK024632	CCDS58722.1	2q14.2	2012-08-10	2011-05-27	2007-02-05	ENSG00000226479	ENSG00000226479			18896	protein-coding gene	gene with protein product			"""family with sequence similarity 11, member B"", ""transmembrane protein 185B (pseudogene)"""	FAM11B		12404111	Standard	NM_024121		Approved	FLJ20979	uc002tmj.2	Q9H7F4	OTTHUMG00000154402	ENST00000426077.2:c.357C>G	2.37:g.120980196G>C							p.L119L	NM_024121.2	NP_077026.2	Q9H7F4	T185B_HUMAN			1	788	-			119					A8K1G5|Q53T33|Q66K44|Q8IZ77	Silent	SNP	ENST00000426077.2	37	c.357C>G	CCDS58722.1																																																																																				0.612	TMEM185B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335069.4	NM_024121.2		7	4	0	0	0	1	0	7	4				
BPIFC	254240	broad.mit.edu	37	22	32843231	32843231	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:32843231G>C	ENST00000397452.1	-	4	452	c.342C>G	c.(340-342)atC>atG	p.I114M	BPIFC_ENST00000300399.3_Missense_Mutation_p.I114M|BPIFC_ENST00000534972.1_De_novo_Start_OutOfFrame|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	114						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AGTCTGTGCTGATGTTGGCAG	0.443																																						ENST00000534972.1																			0													BPI fold containing family C							143.0	123.0	130.0					22																	32843231		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32843231G>C	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.342C>G	22.37:g.32843231G>C	ENSP00000380594:p.Ile114Met					BPIFC_ENST00000397452.1_Missense_Mutation_p.I114M|BPIFC_ENST00000300399.3_Missense_Mutation_p.I114M|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame				Q8NFQ6	BPIL2_HUMAN			0	467	-								A2RRF1	Translation_Start_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003438	0.74932	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05996	3.36;3.36	5.87	5.87	0.94306	.	0.182272	0.50627	D	0.000116	T	0.22742	0.0549	M	0.77616	2.38	0.80722	D	1	P	0.51147	0.942	P	0.57371	0.819	T	0.00009	-1.2461	10	0.72032	D	0.01	-18.0558	16.0731	0.80948	0.0:0.0:1.0:0.0	.	114	Q8NFQ6	BPIFC_HUMAN	M	114	ENSP00000380594:I114M;ENSP00000300399:I114M	ENSP00000300399:I114M	I	-	3	3	BPIFC	31173231	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	ATC		0.443	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		7	81	0	0	0	1	0	7	81				
SSTR4	6754	broad.mit.edu	37	20	23016960	23016960	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:23016960G>C	ENST00000255008.3	+	1	904	c.840G>C	c.(838-840)ctG>ctC	p.L280L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	280					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGTGCAGCTGCTGAACCTCT	0.572																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(838-840)ctG>ctC		somatostatin receptor 4							199.0	206.0	204.0					20																	23016960		2203	4300	6503	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016960G>C		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.840G>C	20.37:g.23016960G>C						RP4-753D10.3_ENST00000440921.1_RNA	p.L280L	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	904	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		280					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.840G>C	CCDS42856.1																																																																																				0.572	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			20	128	0	0	0	1	0	20	128				
TNFRSF14	8764	broad.mit.edu	37	1	2492102	2492102	+	Missense_Mutation	SNP	C	C	T	rs201844409		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2492102C>T	ENST00000355716.4	+	5	799	c.500C>T	c.(499-501)cCg>cTg	p.P167L	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.P167L	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	167					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AACTGCCCCCCGGGGACCTTC	0.672			"""Mis, N, F"""		follicular lymphoma																																	ENST00000355716.4				Rec	yes		1	1p36.32	8764	"""Mis, N, F"""	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			L			follicular lymphoma		0				kidney(1)	1						c.(499-501)cCg>cTg		tumor necrosis factor receptor superfamily, member 14							51.0	50.0	50.0					1																	2492102		2202	4300	6502	SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2492102C>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.500C>T	1.37:g.2492102C>T	ENSP00000347948:p.Pro167Leu					TNFRSF14_ENST00000409119.1_Missense_Mutation_p.P167L	p.P167L	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	5	799	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	167					B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.500C>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626338	0.28978	.	.	ENSG00000157873	ENST00000426449;ENST00000434817;ENST00000435221;ENST00000451778;ENST00000409119;ENST00000355716	T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19	3.5	1.4	0.22301	.	.	.	.	.	T	0.44074	0.1276	L	0.41824	1.3	0.09310	N	1	D	0.61697	0.99	P	0.44422	0.449	T	0.28459	-1.0043	9	0.33940	T	0.23	-7.6636	3.4943	0.07649	0.2508:0.612:0.0:0.1373	.	167	Q92956	TNR14_HUMAN	L	167	ENSP00000411854:P167L;ENSP00000415254:P167L;ENSP00000399292:P167L;ENSP00000399533:P167L;ENSP00000386859:P167L;ENSP00000347948:P167L	ENSP00000347948:P167L	P	+	2	0	TNFRSF14	2482316	0.000000	0.05858	0.001000	0.08648	0.466000	0.32739	0.062000	0.14389	0.829000	0.34733	0.407000	0.27541	CCG		0.672	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			20	14	0	0	0	1	0	20	14				
ABCD2	225	broad.mit.edu	37	12	40012651	40012651	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:40012651G>T	ENST00000308666.3	-	1	902	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	256	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAGTAGGGTGGGCCCAATTGG	0.448																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(766-768)cCc>cAc		ATP-binding cassette, sub-family D (ALD), member 2							118.0	116.0	117.0					12																	40012651		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012651G>T	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.767C>A	12.37:g.40012651G>T	ENSP00000310688:p.Pro256His						p.P256H	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	902	-			256			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.767C>A	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000173208	ENST00000308666	D	0.91577	-2.87	5.18	5.18	0.71444	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97114	0.9806	9	.	.	.	-1.1799	18.7279	0.91722	0.0:0.0:1.0:0.0	.	256	Q9UBJ2	ABCD2_HUMAN	H	256	ENSP00000310688:P256H	.	P	-	2	0	ABCD2	38298918	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.296000	0.96104	2.412000	0.81896	0.557000	0.71058	CCC		0.448	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		55	51	1	0	1.39843e-22	1	1.59227e-22	55	51				
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)Aga>Tga																																						SO:0001587	stop_gained	0							g.chr20:29625955A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*	p.R67*							5	579	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.199A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	95	0	0	0	1	0	7	95				
TNKS	8658	broad.mit.edu	37	8	9588536	9588536	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:9588536A>C	ENST00000310430.6	+	14	2164	c.2138A>C	c.(2137-2139)aAa>aCa	p.K713T	TNKS_ENST00000518281.1_Missense_Mutation_p.K476T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	713					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTCCATGCCAAAGACAAGGGG	0.438																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(2137-2139)aAa>aCa		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							92.0	77.0	82.0					8																	9588536		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9588536A>C	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2138A>C	8.37:g.9588536A>C	ENSP00000311579:p.Lys713Thr					TNKS_ENST00000518281.1_Missense_Mutation_p.K476T	p.K713T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	14	2164	+			713					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.2138A>C	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.967442	0.92855	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.67345	-0.26;-0.26	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.41632	1.29	0.80722	D	1	P	0.45176	0.852	P	0.57324	0.818	T	0.71724	-0.4506	10	0.40728	T	0.16	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	713	O95271	TNKS1_HUMAN	T	713;476	ENSP00000311579:K713T;ENSP00000429890:K476T	ENSP00000311579:K713T	K	+	2	0	TNKS	9625946	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.206000	0.71126	0.533000	0.62120	AAA		0.438	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		7	31	0	0	0	1	0	7	31				
TNXB	7148	broad.mit.edu	37	6	32029445	32029445	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:32029445C>A	ENST00000375244.3	-	21	7422	c.7221G>T	c.(7219-7221)gaG>gaT	p.E2407D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2407D			P22105	TENX_HUMAN	tenascin XB	2467	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCAGGGGGCTCCGGGGCCT	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7219-7221)gaG>gaT		tenascin XB							45.0	54.0	51.0					6																	32029445		1135	2488	3623	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029445C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7221G>T	6.37:g.32029445C>A	ENSP00000364393:p.Glu2407Asp					TNXB_ENST00000375247.2_Missense_Mutation_p.E2407D	p.E2407D			P22105	TENX_HUMAN			21	7422	-			2467			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7221G>T		.	.	.	.	.	.	.	.	.	.	C	7.107	0.575204	0.13623	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.56;0.4	3.76	1.98	0.26296	.	0.240516	0.29884	N	0.010956	T	0.41696	0.1170	M	0.86573	2.825	0.19300	N	0.999977	P	0.37997	0.614	P	0.47430	0.547	T	0.44329	-0.9335	10	0.16420	T	0.52	.	5.8809	0.18854	0.0:0.7541:0.0:0.2459	.	2407	P22105-3	.	D	2407	ENSP00000364393:E2407D;ENSP00000364396:E2407D	ENSP00000364393:E2407D	E	-	3	2	TNXB	32137423	0.000000	0.05858	0.696000	0.30242	0.098000	0.18820	-0.243000	0.08915	0.277000	0.22141	0.585000	0.79938	GAG		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	102	1	0	0.00116845	1	0.00121055	5	102				
GRM7	2917	broad.mit.edu	37	3	7456839	7456839	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:7456839G>A	ENST00000357716.4	+	5	1437	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRM7_ENST00000389336.4_Missense_Mutation_p.R388H|GRM7_ENST00000486284.1_Missense_Mutation_p.R388H|GRM7_ENST00000402647.2_Missense_Mutation_p.R388H|GRM7_ENST00000403881.1_Missense_Mutation_p.R388H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	388					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.R388P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GACACAGATCGCAAATGCACA	0.423																																						ENST00000486284.1																			1	Substitution - Missense(1)	p.R388P(1)	lung(1)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1162-1164)cGc>cAc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						91.0	84.0	87.0					3																	7456839		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7456839G>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1163G>A	3.37:g.7456839G>A	ENSP00000350348:p.Arg388His					GRM7_ENST00000402647.2_Missense_Mutation_p.R388H|GRM7_ENST00000403881.1_Missense_Mutation_p.R388H|GRM7_ENST00000357716.4_Missense_Mutation_p.R388H|GRM7_ENST00000389336.4_Missense_Mutation_p.R388H	p.R388H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			5	1437	+			388					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1163G>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328383	0.60743	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.81	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89336	0.6686	L	0.56340	1.77	0.39075	D	0.960781	D;D;B	0.65815	0.986;0.995;0.246	P;P;B	0.55667	0.578;0.781;0.058	D	0.90370	0.4380	10	0.51188	T	0.08	.	14.1482	0.65364	0.073:0.0:0.927:0.0	.	388;388;388	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	388;388;388;388;388;388;388;45	ENSP00000350348:R388H;ENSP00000417536:R388H;ENSP00000373987:R388H;ENSP00000385664:R388H;ENSP00000384585:R388H;ENSP00000395035:R45H	ENSP00000350348:R388H	R	+	2	0	GRM7	7431839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.547000	0.60712	1.596000	0.50062	0.655000	0.94253	CGC		0.423	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		19	21	0	0	0	1	0	19	21				
KLK2	3817	broad.mit.edu	37	19	51381707	51381707	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:51381707C>G	ENST00000325321.3	+	5	903	c.678C>G	c.(676-678)atC>atG	p.I226M	KLK2_ENST00000391810.2_Missense_Mutation_p.I124M|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TTCAAGGTATCACATCATGGG	0.532			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(676-678)atC>atG		kallikrein-related peptidase 2							215.0	201.0	206.0					19																	51381707		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51381707C>G	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.678C>G	19.37:g.51381707C>G	ENSP00000313581:p.Ile226Met					KLK2_ENST00000391810.2_Missense_Mutation_p.I124M|KLK2_ENST00000358049.4_3'UTR	p.I226M			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	5	903	+		all_neural(266;0.026)	226			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.678C>G	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038436	0.35989	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.92099	-2.97;-2.97	3.41	-1.06	0.10002	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.625587	0.13259	N	0.401415	D	0.94699	0.8290	M	0.85542	2.76	0.09310	N	0.999991	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.984	D	0.86400	0.1741	10	0.87932	D	0	.	4.9163	0.13847	0.0:0.4669:0.2777:0.2554	.	209;226	B4DU77;P20151	.;KLK2_HUMAN	M	226;124	ENSP00000313581:I226M;ENSP00000375686:I124M	ENSP00000313581:I226M	I	+	3	3	KLK2	56073519	0.002000	0.14202	0.002000	0.10522	0.042000	0.13812	-0.876000	0.04201	0.045000	0.15804	0.467000	0.42956	ATC		0.532	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		54	103	0	0	0	1	0	54	103				
PIK3C3	5289	broad.mit.edu	37	18	39573236	39573236	+	Missense_Mutation	SNP	C	C	G	rs373306733		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:39573236C>G	ENST00000262039.4	+	7	803	c.717C>G	c.(715-717)gaC>gaG	p.D239E	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D176E	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	239					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TAATCTAGGACGGTGATGAAT	0.284										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(715-717)gaC>gaG		phosphatidylinositol 3-kinase, catalytic subunit type 3							95.0	94.0	94.0					18																	39573236		2202	4300	6502	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39573236C>G	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.717C>G	18.37:g.39573236C>G	ENSP00000262039:p.Asp239Glu	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Missense_Mutation_p.D176E	p.D239E	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			7	803	+			239					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.717C>G	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.260148	0.39995	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.62639	0.01;0.38	5.67	3.33	0.38152	.	0.044538	0.85682	D	0.000000	T	0.50309	0.1608	L	0.37800	1.135	0.80722	D	1	P;P	0.38711	0.591;0.643	B;B	0.40940	0.344;0.268	T	0.34576	-0.9823	9	.	.	.	.	8.0608	0.30631	0.0:0.3037:0.0:0.6963	.	176;239	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	E	239;176	ENSP00000262039:D239E;ENSP00000381845:D176E	.	D	+	3	2	PIK3C3	37827234	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	0.622000	0.24433	0.529000	0.28599	-0.302000	0.09304	GAC		0.284	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		6	31	0	0	0	1	0	6	31				
ERBB3	2065	broad.mit.edu	37	12	56490829	56490829	+	Splice_Site	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:56490829C>T	ENST00000267101.3	+	20	2715	c.2275C>T	c.(2275-2277)Cat>Tat	p.H759Y	ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000415288.2_Splice_Site_p.H700Y|ERBB3_ENST00000450146.2_Splice_Site_p.H116Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	759	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTCTCTTAGCATATGCTGGC	0.527																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.e20-1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							94.0	78.0	84.0					12																	56490829		2203	4300	6503	SO:0001630	splice_region_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490829C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2275-1C>T	12.37:g.56490829C>T						ERBB3_ENST00000553131.1_5'UTR|ERBB3_ENST00000450146.2_Splice_Site_p.H116_splice|ERBB3_ENST00000415288.2_Splice_Site_p.H700_splice	p.H759_splice	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		20	2715	+			759			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Splice_Site	SNP	ENST00000267101.3	37	c.2274_splice	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328857	0.81690	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.61980	0.06;0.06;0.06	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.68760	0.3036	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65841	-0.6070	9	.	.	.	.	18.7304	0.91733	0.0:1.0:0.0:0.0	.	759	P21860	ERBB3_HUMAN	Y	759;116;700	ENSP00000267101:H759Y;ENSP00000399178:H116Y;ENSP00000408340:H700Y	.	H	+	1	0	ERBB3	54777096	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.442000	0.59988	2.793000	0.96121	0.561000	0.74099	CAT		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		Missense_Mutation	35	39	0	0	0	1	0	35	39				
PTPRF	5792	broad.mit.edu	37	1	44075093	44075093	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:44075093G>C	ENST00000359947.4	+	22	4237	c.3897G>C	c.(3895-3897)tcG>tcC	p.S1299S	PTPRF_ENST00000372413.3_Silent_p.S1290S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Silent_p.S1290S|PTPRF_ENST00000422171.2_Silent_p.S647S|PTPRF_ENST00000372414.3_Silent_p.S1299S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1299					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGCAGTCGATCGGACTGA	0.577																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3895-3897)tcG>tcC		protein tyrosine phosphatase, receptor type, F							100.0	82.0	88.0					1																	44075093		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44075093G>C	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3897G>C	1.37:g.44075093G>C						PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.S1290S|PTPRF_ENST00000422171.2_Silent_p.S647S|PTPRF_ENST00000372414.3_Silent_p.S1299S|PTPRF_ENST00000438120.1_Silent_p.S1290S	p.S1299S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			22	4237	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1299					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3897G>C	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.935|2.935	-0.220199|-0.220199	0.06061|0.06061	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.81|4.81	-9.61|-9.61	0.00550|0.00550	.|.	.|.	.|.	.|.	.|.	T|T	0.42944|0.42944	0.1225|0.1225	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999968|0.999968	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49995|0.49995	-0.8879|-0.8879	4|4	.|.	.|.	.|.	.|.	5.6692|5.6692	0.17713|0.17713	0.2073:0.4275:0.2901:0.0752|0.2073:0.4275:0.2901:0.0752	.|.	.|.	.|.	.|.	H|P	672;713|945	.|.	.|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43847680|43847680	0.000000|0.000000	0.05858|0.05858	0.170000|0.170000	0.22879|0.22879	0.473000|0.473000	0.32948|0.32948	-1.895000|-1.895000	0.01606|0.01606	-1.535000|-1.535000	0.01740|0.01740	-0.379000|-0.379000	0.06801|0.06801	GAT|CGA		0.577	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	32	0	0	0	1	0	5	32				
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61.0	52.0	55.0					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	p.P179R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		13	38	0	0	0	1	0	13	38				
GUSBP1	728411	broad.mit.edu	37	5	21497311	21497311	+	RNA	SNP	C	C	T	rs138516990	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr5:21497311C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										ACCAGGTAAGCGGTGTTGAAC	0.537													.|||	551	0.110024	0.0113	0.098	5008	,	,		27727	0.1726		0.1382	False		,,,				2504	0.1585					ENST00000607545.1																			0																																																			0							g.chr5:21497311C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21497311C>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.537	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		8	10	0	0	0	1	0	8	10				
LIMK2	3985	broad.mit.edu	37	22	31658195	31658195	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:31658195G>A	ENST00000331728.4	+	6	741	c.627G>A	c.(625-627)ggG>ggA	p.G209G	LIMK2_ENST00000406516.1_Silent_p.G131G|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.G188G|LIMK2_ENST00000340552.4_Silent_p.G188G	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	209	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGATCAATGGGACCCCCGTCC	0.557																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(625-627)ggG>ggA		LIM domain kinase 2							137.0	132.0	133.0					22																	31658195		2203	4300	6503	SO:0001819	synonymous_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31658195G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.627G>A	22.37:g.31658195G>A						LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.G188G|LIMK2_ENST00000406516.1_Silent_p.G131G|LIMK2_ENST00000340552.4_Silent_p.G188G	p.G209G	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			6	741	+			209			PDZ.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.627G>A	CCDS13891.1																																																																																				0.557	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		27	91	0	0	0	1	0	27	91				
NARF	26502	broad.mit.edu	37	17	80445875	80445875	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:80445875G>A	ENST00000309794.11	+	11	1411	c.1213G>A	c.(1213-1215)Gct>Act	p.A405T	NARF_ENST00000390006.4_Missense_Mutation_p.A346T|NARF_ENST00000345415.7_Missense_Mutation_p.A357T|NARF_ENST00000457415.3_Missense_Mutation_p.A451T	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	405						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGCATTTACGCTGACATCCC	0.592																																						ENST00000390006.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1036-1038)Gct>Act		nuclear prelamin A recognition factor							93.0	82.0	86.0					17																	80445875		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80445875G>A	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1213G>A	17.37:g.80445875G>A	ENSP00000309899:p.Ala405Thr					NARF_ENST00000345415.7_Missense_Mutation_p.A357T|NARF_ENST00000309794.10_Missense_Mutation_p.A405T|NARF_ENST00000457415.3_Missense_Mutation_p.A451T	p.A346T	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		11	1510	+	Breast(20;0.00106)|all_neural(118;0.0804)		405					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.1036G>A	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283354	0.23392	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.41758	0.99;0.99;0.99	5.58	-4.23	0.03789	Iron hydrogenase, small subunit-like (3);Iron hydrogenase (1);	0.256906	0.45867	N	0.000323	T	0.25680	0.0625	L	0.52126	1.63	0.31074	N	0.712653	P;B;P;P	0.45672	0.646;0.356;0.864;0.657	B;B;B;B	0.39094	0.128;0.069;0.29;0.158	T	0.48647	-0.9017	10	0.15066	T	0.55	-7.7375	7.7072	0.28657	0.3171:0.0:0.5791:0.1039	.	451;357;452;405	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	T	346;452;405;357	ENSP00000374656:A346T;ENSP00000309899:A405T;ENSP00000283996:A357T	ENSP00000309899:A405T	A	+	1	0	NARF	78039164	0.897000	0.30589	0.001000	0.08648	0.454000	0.32378	0.970000	0.29383	-1.162000	0.02797	-0.271000	0.10264	GCT		0.592	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		10	51	0	0	0	1	0	10	51				
CCDC30	728621	broad.mit.edu	37	1	43002200	43002201	+	Frame_Shift_Del	DEL	AG	AG	-	rs372826618		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:43002200_43002201delAG	ENST00000340612.4	+	1	45_46	c.45_46delAG	c.(43-48)aaagagfs	p.E16fs	CCDC30_ENST00000428554.2_Frame_Shift_Del_p.E16fs|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.E16fs			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	16						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGGTCAAAAGAGAGAGAGAG	0.356																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(43-48)aaagfs		coiled-coil domain containing 30																																				SO:0001589	frameshift_variant	728621							g.chr1:43002200_43002201delAG	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.45_46delAG	1.37:g.43002210_43002211delAG	ENSP00000340378:p.Glu16fs					CCDC30_ENST00000340612.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.KE15fs|CCDC30_ENST00000507855.1_Intron	p.KE15fs			Q5VVM6	CCD30_HUMAN			9	1188_1189	+			15					Q14F06|Q5VVM5	Frame_Shift_Del	DEL	ENST00000340612.4	37	c.45_46delAG	CCDS30690.1																																																																																				0.356	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		7	59						7	59	---	---	---	---
LINC01057	101928079	broad.mit.edu	37	1	95273518	95273518	+	lincRNA	DEL	C	C	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:95273518delC	ENST00000452922.1	-	0	326					NR_104131.1				long intergenic non-protein coding RNA 1057																		atcagcctggccaatgtggtg	0.542																																						ENST00000452922.1																			0																																																			0							g.chr1:95273518delC	BC030750		1p21.3	2013-08-19			ENSG00000224081	ENSG00000224081		"""Long non-coding RNAs"""	49057	non-coding RNA	RNA, long non-coding							Standard	NR_104131		Approved				OTTHUMG00000010701		1.37:g.95273518delC														0	326	-									RNA	DEL	ENST00000452922.1	37																																																																																						0.542	LINC01057-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000029548.1			2	4						2	4	---	---	---	---
SLAMF6	114836	broad.mit.edu	37	1	160466086	160466088	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:160466086_160466088delCTT	ENST00000368057.3	-	2	205_207	c.145_147delAAG	c.(145-147)aagdel	p.K49del	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368059.3_In_Frame_Del_p.K49del			Q96DU3	SLAF6_HUMAN	SLAM family member 6	49	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGAAGTTGACCTTCTCTCCTGCA	0.458																																						ENST00000368059.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22						c.(145-147)del		SLAM family member 6																																				SO:0001651	inframe_deletion	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160466086_160466088delCTT	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.145_147delAAG	1.37:g.160466086_160466088delCTT	ENSP00000357036:p.Lys49del					SLAMF6_ENST00000368057.3_In_Frame_Del_p.K49del|SLAMF6_ENST00000368055.1_Intron	p.K49del	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		2	214_216	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		49					A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	In_Frame_Del	DEL	ENST00000368057.3	37	c.145_147delAAG	CCDS53394.1																																																																																				0.458	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		96	194						96	194	---	---	---	---
CTSE	1510	broad.mit.edu	37	1	206318413	206318414	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:206318413_206318414insGA	ENST00000358184.2	+	2	289_290	c.171_172insGA	c.(172-174)gagfs	p.E58fs	CTSE_ENST00000361052.3_Frame_Shift_Ins_p.E58fs|CTSE_ENST00000360218.2_Frame_Shift_Ins_p.E58fs|CTSE_ENST00000432969.2_Intron	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	58					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCAGTTCACCGAGTCCTGCTC	0.584																																						ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(169-174)acagtcfs		cathepsin E																																				SO:0001589	frameshift_variant	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206318413_206318414insGA	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.172_173dupGA	1.37:g.206318414_206318415dupGA	ENSP00000350911:p.Glu58fs					CTSE_ENST00000360218.2_Frame_Shift_Ins_p.V58fs|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000358184.2_Frame_Shift_Ins_p.V58fs	p.V58fs			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		2	289_290	+			58					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Frame_Shift_Ins	INS	ENST00000358184.2	37	c.171_172insGA	CCDS1462.1																																																																																				0.584	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		39	75						39	75	---	---	---	---
SUSD4	55061	broad.mit.edu	37	1	223396671	223396671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:223396671delG	ENST00000343846.3	-	7	1997	c.1364delC	c.(1363-1365)cctfs	p.P455fs	SUSD4_ENST00000484758.2_Frame_Shift_Del_p.P386fs|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.P455fs|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.P295fs|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Frame_Shift_Del_p.P455fs			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	455						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTCCGAAGCAGGGTGGGTGCT	0.587																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(1363-1365)ctfs		sushi domain containing 4							63.0	71.0	68.0					1																	223396671		2106	4235	6341	SO:0001589	frameshift_variant	55061					integral to membrane		g.chr1:223396671delG	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1364delC	1.37:g.223396671delG	ENSP00000344219:p.Pro455fs					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.P295fs|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.P455fs	p.P455fs			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	7	1997	-			455					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Frame_Shift_Del	DEL	ENST00000343846.3	37	c.1364delC	CCDS41471.1																																																																																				0.587	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		13	120						13	120	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	lincRNA	DEL	A	A	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:65894933delA	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TCAGAGGTTTAAAAAAAAAAA	0.517																																						ENST00000377977.3																			0																																																			0							g.chr2:65894933delA																													2.37:g.65894933delA														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.517	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	3						3	3	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			2	4						2	4	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160031574	160031598	+	Frame_Shift_Del	DEL	CAGAGACCTTCTGATAAAGGAGCCC	CAGAGACCTTCTGATAAAGGAGCCC	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	ENST00000263635.6	+	12	1851_1875	c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	c.(1612-1638)tacagagaccttctgataaaggagcccfs	p.YRDLLIKEP538fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.YRDLLIKEP432fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	538					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCGCCTACAGAGACCTTCTGATAAAGGAGCCCCAACTACAGA	0.573																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1612-1638)tafs		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1																																				SO:0001589	frameshift_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	2.37:g.160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	ENSP00000263635:p.Tyr538fs					TANC1_ENST00000454300.1_Frame_Shift_Del_p.YRDLLIKEP432fs	p.YRDLLIKEP538fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			12	1851_1875	+			538					C9JD88|Q49AI8	Frame_Shift_Del	DEL	ENST00000263635.6	37	c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	CCDS42766.1																																																																																				0.573	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			20	133						20	133	---	---	---	---
AC007563.5	0	broad.mit.edu	37	2	217832850	217832850	+	RNA	DEL	C	C	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:217832850delC	ENST00000447289.1	+	0	510				AC007563.5_ENST00000607591.1_RNA																							ATGGGGCAGGCCCTGCAGGAA	0.557																																						ENST00000447289.1																			0																																																			0							g.chr2:217832850delC																													2.37:g.217832850delC						AC007563.5_ENST00000607591.1_RNA								0	510	+									RNA	DEL	ENST00000447289.1	37																																																																																						0.557	AC007563.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000339423.2			2	4						2	4	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10452444	10452444	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:10452444delG	ENST00000352432.4	-	2	324	c.255delC	c.(253-255)aacfs	p.N85fs	ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000397077.1_Frame_Shift_Del_p.N85fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	85					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAGGTATAAAGTTTTGCCCAA	0.547																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(253-255)aafs		ATPase, Ca++ transporting, plasma membrane 2							202.0	230.0	221.0					3																	10452444		2203	4300	6503	SO:0001589	frameshift_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452444delG	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.255delC	3.37:g.10452444delG	ENSP00000324172:p.Asn85fs					ATP2B2_ENST00000383800.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000360273.2_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000352432.4_Frame_Shift_Del_p.N85fs|ATP2B2_ENST00000343816.4_Frame_Shift_Del_p.N85fs	p.N85fs			Q01814	AT2B2_HUMAN			5	830	-			85					O00766|Q12994|Q16818	Frame_Shift_Del	DEL	ENST00000352432.4	37	c.255delC	CCDS33701.1																																																																																				0.547	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		8	385						8	385	---	---	---	---
RP11-764K9.1	0	broad.mit.edu	37	9	68400387	68400387	+	lincRNA	DEL	C	C	-	rs111626719		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:68400387delC	ENST00000417843.2	-	0	1432																											GATCTGGGGTCCTCTGATGAG	0.542																																						ENST00000417843.2																			0																																																			0							g.chr9:68400387delC																													9.37:g.68400387delC														0	1432	-									RNA	DEL	ENST00000417843.2	37																																																																																						0.542	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000129817.2			4	8						4	8	---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85924485	85924485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:85924485delA	ENST00000304195.3	-	10	1098	c.892delT	c.(892-894)tggfs	p.W298fs	FRMD3_ENST00000376438.1_Frame_Shift_Del_p.W298fs|FRMD3_ENST00000376434.1_Frame_Shift_Del_p.W104fs	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	298	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCACACTTCCAAAGATGTTTG	0.338																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(892-894)ggfs		FERM domain containing 3							52.0	50.0	51.0					9																	85924485		1806	4070	5876	SO:0001589	frameshift_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85924485delA	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.892delT	9.37:g.85924485delA	ENSP00000303508:p.Trp298fs					FRMD3_ENST00000376438.1_Frame_Shift_Del_p.W298fs|FRMD3_ENST00000376434.1_Frame_Shift_Del_p.W104fs	p.W298fs	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			10	1098	-			298			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Frame_Shift_Del	DEL	ENST00000304195.3	37	c.892delT	CCDS43840.1																																																																																				0.338	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		9	9						9	9	---	---	---	---
MRVI1	10335	broad.mit.edu	37	11	10625994	10625996	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:10625994_10625996delCTC	ENST00000436272.1	-	12	1696_1698	c.1618_1620delGAG	c.(1618-1620)gagdel	p.E540del	MRVI1_ENST00000547195.1_In_Frame_Del_p.E476del|MRVI1_ENST00000423302.2_In_Frame_Del_p.E567del|MRVI1_ENST00000558540.1_In_Frame_Del_p.E252del|MRVI1_ENST00000421747.1_In_Frame_Del_p.E558del|MRVI1_ENST00000527509.2_In_Frame_Del_p.E476del|MRVI1_ENST00000545852.1_In_Frame_Del_p.E252del|MRVI1_ENST00000534266.2_In_Frame_Del_p.E252del|MRVI1_ENST00000541483.1_In_Frame_Del_p.E361del|MRVI1_ENST00000424001.1_In_Frame_Del_p.E252del|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_In_Frame_Del_p.E476del|MRVI1_ENST00000531107.1_In_Frame_Del_p.E559del			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	540	Interaction with ITPR1. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTCAGTGTTCTCCTCTGTCAGG	0.473																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1426-1428)del		murine retrovirus integration site 1 homolog																																				SO:0001651	inframe_deletion	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10625994_10625996delCTC	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1618_1620delGAG	11.37:g.10625997_10625999delCTC	ENSP00000412229:p.Glu540del					MRVI1_ENST00000527509.2_In_Frame_Del_p.E476del|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000531107.1_In_Frame_Del_p.E559del|MRVI1_ENST00000558540.1_In_Frame_Del_p.E252del|MRVI1_ENST00000424001.1_In_Frame_Del_p.E252del|MRVI1_ENST00000552103.1_In_Frame_Del_p.E476del|MRVI1_ENST00000421747.1_In_Frame_Del_p.E558del|MRVI1_ENST00000534266.2_In_Frame_Del_p.E252del|MRVI1_ENST00000545852.1_In_Frame_Del_p.E252del|MRVI1_ENST00000436272.1_In_Frame_Del_p.E540del|MRVI1_ENST00000541483.1_In_Frame_Del_p.E361del|MRVI1_ENST00000423302.2_In_Frame_Del_p.E567del	p.E476del	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	12	1926_1928	-			540					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	In_Frame_Del	DEL	ENST00000436272.1	37	c.1426_1428delGAG																																																																																					0.473	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		45	13						45	13	---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8211663	8211663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:8211663delG	ENST00000307637.4	-	2	1322	c.1119delC	c.(1117-1119)agcfs	p.S373fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	373					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAAAGGTTTTGCTCTGAGACT	0.512																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1117-1119)agfs		complement component 3a receptor 1							67.0	60.0	63.0					12																	8211663		2203	4300	6503	SO:0001589	frameshift_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211663delG	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1119delC	12.37:g.8211663delG	ENSP00000302079:p.Ser373fs						p.S373fs	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1322	-			373					O43771|Q92868	Frame_Shift_Del	DEL	ENST00000307637.4	37	c.1119delC	CCDS8588.1																																																																																				0.512	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			64	47						64	47	---	---	---	---
RP11-67H24.2	0	broad.mit.edu	37	16	32823257	32823257	+	lincRNA	DEL	T	T	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:32823257delT	ENST00000569859.1	+	0	373																											CGGCGGCGGGTGGGTGGCAGA	0.731																																						ENST00000569859.1																			0																																																			0							g.chr16:32823257delT																													16.37:g.32823257delT														0	373	+									RNA	DEL	ENST00000569859.1	37																																																																																						0.731	RP11-67H24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432377.1			2	4						2	4	---	---	---	---
GHDC	84514	broad.mit.edu	37	17	40345560	40345562	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:40345560_40345562delGCA	ENST00000301671.8	-	2	479_481	c.38_40delTGC	c.(37-42)ctgcca>cca	p.L13del	GHDC_ENST00000587427.1_In_Frame_Del_p.L13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000436923.2_In_Frame_Del_p.L13del|GHDC_ENST00000593209.1_In_Frame_Del_p.L13del|GHDC_ENST00000428494.2_In_Frame_Del_p.L13del|GHDC_ENST00000414034.3_In_Frame_Del_p.L13del			Q8N2G8	GHDC_HUMAN	GH3 domain containing	13						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GCCAATGTTGgcagcagcagcag	0.631																																						ENST00000301671.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(37-42)cca>c		GH3 domain containing			,,	153,2,2875		20,0,113,1,0,1381					,,	-3.0	0.0			4	312,7,5755		37,0,238,1,5,2756	no	codingComplex,codingComplex,codingComplex	GHDC	NM_032484.4,NM_001142623.1,NM_001142622.1	,,	57,0,351,2,5,4137	A1A1,A1A2,A1R,A2A2,A2R,RR		5.2519,5.1155,5.2065	,,	,,		465,9,8630				SO:0001651	inframe_deletion	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40345560_40345562delGCA	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.38_40delTGC	17.37:g.40345569_40345571delGCA	ENSP00000301671:p.Leu13del					GHDC_ENST00000436923.2_In_Frame_Del_p.LP13del|GHDC_ENST00000414034.3_In_Frame_Del_p.LP13del|GHDC_ENST00000428494.2_In_Frame_Del_p.LP13del|GHDC_ENST00000587427.1_In_Frame_Del_p.LP13del|GHDC_ENST00000590520.1_5'UTR|GHDC_ENST00000593209.1_In_Frame_Del_p.LP13del	p.LP13del			Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	2	479_481	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	13					B4DQS4|E9PDB5|Q9BXM6	In_Frame_Del	DEL	ENST00000301671.8	37	c.38_40delTGC	CCDS11422.1																																																																																				0.631	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		2	4						2	4	---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44592260	44592260	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:44592260delA	ENST00000322927.2	-	9	1485	c.1385delT	c.(1384-1386)ttgfs	p.L462fs	ZNF335_ENST00000426788.1_Frame_Shift_Del_p.L307fs	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	462					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GAAGGGCCTCAAAAGTGGTTT	0.577																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1384-1386)tgfs		zinc finger protein 335							239.0	221.0	227.0					20																	44592260		2203	4300	6503	SO:0001589	frameshift_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592260delA	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1385delT	20.37:g.44592260delA	ENSP00000325326:p.Leu462fs					ZNF335_ENST00000426788.1_Frame_Shift_Del_p.L307fs	p.L462fs	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			9	1485	-		Myeloproliferative disorder(115;0.0122)	462					B4DLG7|Q548D0|Q9H684	Frame_Shift_Del	DEL	ENST00000322927.2	37	c.1385delT	CCDS13389.1																																																																																				0.577	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		30	308						30	308	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11055420	11055420	+	RNA	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr21:11055420delG	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cacagctactgctctgccctt	0.308																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11055420delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11055420delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.308	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11064287	11064288	+	RNA	INS	-	-	A	rs55767427|rs148820757	byFrequency	TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr21:11064287_11064288insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTTCCACAGCAATCTTTCTAA	0.416													aa|AA|AAA|insertion	2322	0.463658	0.441	0.4611	5008	,	,		86822	0.4802		0.4911	False		,,,				2504	0.4509					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11064287_11064288insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11064289_11064289dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.416	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	6						4	6	---	---	---	---
