#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ADORA3	140	broad.mit.edu	37	1	112042634	112042634	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:112042634C>A	ENST00000241356.4	-	2	1300	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	299					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A299T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ACCACACAAGCTTTGAGGATC	0.438																																						ENST00000241356.4																			1	Substitution - Missense(1)	p.A299T(1)	NS(1)	NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(895-897)Gct>Tct		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						75.0	74.0	74.0					1																	112042634		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042634C>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.895G>T	1.37:g.112042634C>A	ENSP00000241356:p.Ala299Ser					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.A299S	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	1300	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	299					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.895G>T	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.541930	0.00934	.	.	ENSG00000121933	ENST00000241356	T	0.36520	1.25	5.52	-9.61	0.00550	.	.	.	.	.	T	0.06325	0.0163	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26155	-1.0111	9	0.12430	T	0.62	.	8.5752	0.33595	0.2956:0.1112:0.0:0.5932	.	299	P33765	AA3R_HUMAN	S	299	ENSP00000241356:A299S	ENSP00000241356:A299S	A	-	1	0	ADORA3	111844157	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-1.647000	0.01997	-1.499000	0.01821	-0.907000	0.02831	GCT		0.438	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		23	35	23	35	---	---	---	---
TXNIP	10628	broad.mit.edu	37	1	145441198	145441198	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441198C>T	ENST00000369317.4	+	8	1490	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCCTGCATCCTCAACAACAA	0.393																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(1156-1158)Ctc>Ttc		thioredoxin interacting protein							116.0	109.0	111.0					1																	145441198		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145441198C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1156C>T	1.37:g.145441198C>T	ENSP00000358323:p.Leu386Phe					TXNIP_ENST00000475171.1_3'UTR	p.L386F	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			8	1490	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		386					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.1156C>T	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670240	0.29693	.	.	ENSG00000117289	ENST00000369317	T	0.09630	2.96	5.03	1.6	0.23607	.	0.693290	0.13900	N	0.354953	T	0.01489	0.0048	N	0.08118	0	0.20926	N	0.999824	B;B	0.19445	0.036;0.004	B;B	0.20955	0.032;0.003	T	0.47911	-0.9080	10	0.30078	T	0.28	-23.1376	6.9926	0.24763	0.374:0.3333:0.2928:0.0	.	331;386	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	F	386	ENSP00000358323:L386F	ENSP00000358323:L386F	L	+	1	0	TXNIP	144152555	0.000000	0.05858	0.894000	0.35097	0.940000	0.58332	0.291000	0.18994	0.530000	0.28619	0.655000	0.94253	CTC		0.393	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		15	24	15	24	---	---	---	---
TXNIP	10628	broad.mit.edu	37	1	145441200	145441200	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441200C>T	ENST00000369317.4	+	8	1492	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATG	0.393																																						ENST00000369317.4																			1	Deletion - In frame(1)	p.N389delN(1)	breast(1)	breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(1156-1158)ctC>ctT		thioredoxin interacting protein							116.0	109.0	111.0					1																	145441200		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145441200C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.1158C>T	1.37:g.145441200C>T						TXNIP_ENST00000475171.1_3'UTR	p.L386L	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			8	1492	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		386					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.1158C>T	CCDS913.1																																																																																				0.393	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		14	24	14	24	---	---	---	---
OR10J3	441911	broad.mit.edu	37	1	159283812	159283812	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:159283812C>G	ENST00000332217.5	-	1	637	c.638G>C	c.(637-639)gGc>gCc	p.G213A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAGACCAGGCCCATAGGTAG	0.502																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(637-639)gGc>gCc		olfactory receptor, family 10, subfamily J, member 3							165.0	148.0	154.0					1																	159283812		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283812C>G		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.638G>C	1.37:g.159283812C>G	ENSP00000331789:p.Gly213Ala						p.G213A	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	637	-	all_hematologic(112;0.0429)		213						Missense_Mutation	SNP	ENST00000332217.5	37	c.638G>C	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.955806	0.00470	.	.	ENSG00000196266	ENST00000332217	T	0.35605	1.3	5.2	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.833010	0.09760	U	0.759438	T	0.07503	0.0189	N	0.12831	0.26	0.09310	N	1	B	0.16603	0.018	B	0.21360	0.034	T	0.41662	-0.9496	10	0.30854	T	0.27	.	8.2047	0.31446	0.2721:0.6486:0.0:0.0793	.	213	Q5JRS4	O10J3_HUMAN	A	213	ENSP00000331789:G213A	ENSP00000331789:G213A	G	-	2	0	OR10J3	157550436	0.000000	0.05858	0.010000	0.14722	0.012000	0.07955	-1.412000	0.02476	0.068000	0.16574	-1.134000	0.01955	GGC		0.502	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			44	81	44	81	---	---	---	---
GPA33	10223	broad.mit.edu	37	1	167024285	167024285	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:167024285A>G	ENST00000367868.3	-	6	1098	c.755T>C	c.(754-756)aTt>aCt	p.I252T	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	252						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGATGCCAATGATAATGAG	0.582																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(754-756)aTt>aCt		glycoprotein A33 (transmembrane)							145.0	111.0	122.0					1																	167024285		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167024285A>G	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.755T>C	1.37:g.167024285A>G	ENSP00000356842:p.Ile252Thr					GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	p.I252T	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			6	1098	-			252					Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.755T>C	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.148129	0.37923	.	.	ENSG00000143167	ENST00000367868	T	0.40756	1.02	4.67	2.37	0.29283	.	0.489229	0.21653	N	0.071156	T	0.18045	0.0433	M	0.61703	1.905	0.09310	N	0.99999	B	0.21905	0.062	B	0.17979	0.02	T	0.21314	-1.0249	10	0.59425	D	0.04	.	5.5305	0.16983	0.7778:0.0:0.2222:0.0	.	252	Q99795	GPA33_HUMAN	T	252	ENSP00000356842:I252T	ENSP00000356842:I252T	I	-	2	0	GPA33	165290909	0.009000	0.17119	0.004000	0.12327	0.676000	0.39594	1.994000	0.40757	0.650000	0.30769	0.397000	0.26171	ATT		0.582	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		34	74	34	74	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43625211	43625211	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:43625211T>C	ENST00000405006.4	-	29	4477	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.I1376V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1376										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGTGATCTATCATAACAAAT	0.478																																						ENST00000405006.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(4126-4128)Ata>Gta		thyroid adenoma associated							143.0	146.0	145.0					2																	43625211		2035	4204	6239	SO:0001583	missense	63892						binding	g.chr2:43625211T>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4126A>G	2.37:g.43625211T>C	ENSP00000385995:p.Ile1376Val					THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000330266.7_Intron	p.I1376V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN			29	4477	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1376					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4126A>G	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.674|8.674	0.903633|0.903633	0.17760|0.17760	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.67345|.	-0.26;-0.26;-0.26|.	5.17|5.17	-5.86|-5.86	0.02304|0.02304	Armadillo-type fold (1);|.	1.189900|.	0.06114|.	N|.	0.667682|.	T|.	0.30603|.	0.0770|.	L|L	0.38838|0.38838	1.175|1.175	0.18873|0.18873	N|N	0.999989|0.999989	B;B;B;B|.	0.06786|.	0.0;0.001;0.0;0.0|.	B;B;B;B|.	0.08055|.	0.002;0.003;0.001;0.001|.	T|.	0.34700|.	-0.9818|.	10|.	0.21540|.	T|.	0.41|.	.|.	8.1926|8.1926	0.31376|0.31376	0.0:0.4274:0.1152:0.4575|0.0:0.4274:0.1152:0.4575	.|.	1055;1303;1057;1376|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	V|W	1376;1303;1057;1376|615	ENSP00000386088:I1376V;ENSP00000416048:I1057V;ENSP00000385995:I1376V|.	ENSP00000349464:I1303V|.	I|X	-|-	1|3	0|0	THADA|THADA	43478715|43478715	0.046000|0.046000	0.20272|0.20272	0.004000|0.004000	0.12327|0.12327	0.881000|0.881000	0.50899|0.50899	-0.012000|-0.012000	0.12699|0.12699	-1.517000|-1.517000	0.01780|0.01780	-0.924000|-0.924000	0.02725|0.02725	ATA|TGA		0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		32	75	32	75	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162804174	162804174	+	Silent	SNP	T	T	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:162804174T>C	ENST00000446997.1	+	17	2295	c.2202T>C	c.(2200-2202)ttT>ttC	p.F734F	SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000375514.5_Silent_p.F715F|SLC4A10_ENST00000421911.1_Silent_p.F734F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	734					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCCTGTTCTTTTCCACAGTTA	0.413																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2143-2145)ttT>ttC		solute carrier family 4, sodium bicarbonate transporter, member 10							204.0	198.0	200.0					2																	162804174		1948	4131	6079	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162804174T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2202T>C	2.37:g.162804174T>C						SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000421911.1_Silent_p.F734F|SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F	p.F715F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			17	2432	+			734					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.2145T>C	CCDS54411.1																																																																																				0.413	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		31	88	31	88	---	---	---	---
TMEM45A	55076	broad.mit.edu	37	3	100287665	100287665	+	Splice_Site	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:100287665G>C	ENST00000323523.4	+	5	901		c.e5-1		TMEM45A_ENST00000403410.1_Splice_Site	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTAAATTACAGATTGGATTTG	0.348																																						ENST00000403410.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						c.e7-1		transmembrane protein 45A							137.0	134.0	135.0					3																	100287665		2203	4300	6503	SO:0001630	splice_region_variant	55076					integral to membrane		g.chr3:100287665G>C	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.589-1G>C	3.37:g.100287665G>C						TMEM45A_ENST00000323523.4_Splice_Site				Q9NWC5	TM45A_HUMAN			7	1256	+								Q53YW5	Splice_Site	SNP	ENST00000323523.4	37		CCDS2937.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351310	0.41700	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8449	0.92202	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEM45A	101770355	1.000000	0.71417	0.982000	0.44146	0.547000	0.35210	6.914000	0.75764	2.751000	0.94390	0.555000	0.69702	.		0.348	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004	Intron	13	47	13	47	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122552285	122552285	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:122552285A>C	ENST00000261038.5	+	4	1223	c.825A>C	c.(823-825)agA>agC	p.R275S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	275					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCGTTTGTAGATTATTAAGGT	0.398																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(823-825)agA>agC		disrupted in renal carcinoma 2							77.0	81.0	79.0					3																	122552285		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122552285A>C	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.825A>C	3.37:g.122552285A>C	ENSP00000261038:p.Arg275Ser						p.R275S	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	4	1223	+			275					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.825A>C	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416352	0.42918	.	.	ENSG00000138463	ENST00000261038	T	0.58652	0.32	5.16	0.137	0.14787	Major facilitator superfamily domain, general substrate transporter (1);	0.042989	0.85682	D	0.000000	T	0.42517	0.1206	L	0.39633	1.23	0.51233	D	0.999911	B	0.13145	0.007	B	0.15484	0.013	T	0.16453	-1.0402	10	0.26408	T	0.33	.	9.4929	0.38971	0.6697:0.0:0.3303:0.0	.	275	Q96SL1	DIRC2_HUMAN	S	275	ENSP00000261038:R275S	ENSP00000261038:R275S	R	+	3	2	DIRC2	124034975	0.999000	0.42202	0.999000	0.59377	0.954000	0.61252	0.626000	0.24492	0.112000	0.17975	0.529000	0.55759	AGA		0.398	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		30	55	30	55	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152647580	152647580	+	Silent	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:152647580G>A	ENST00000367255.5	-	79	15745	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000423061.1_Silent_p.N4977N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5048					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCTCCAGGTTACTATGGA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15142-15144)aaC>aaT		spectrin repeat containing, nuclear envelope 1							96.0	100.0	99.0					6																	152647580		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152647580G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15144C>T	6.37:g.152647580G>A		HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000341594.5_Silent_p.N4795N|SYNE1_ENST00000423061.1_Silent_p.N4977N	p.N5048N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	79	15745	-		Ovarian(120;0.0955)	5048					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.15144C>T	CCDS5236.2																																																																																				0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	42	19	42	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158510938	158510938	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:158510938A>T	ENST00000355585.4	+	25	3599	c.3524A>T	c.(3523-3525)gAg>gTg	p.E1175V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1175					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATGCCCAGGAGGCAGAAGCA	0.493																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3523-3525)gAg>gTg		synaptojanin 2							69.0	63.0	65.0					6																	158510938		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158510938A>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3524A>T	6.37:g.158510938A>T	ENSP00000347792:p.Glu1175Val					SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V	p.E1175V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	25	3599	+			1175					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3524A>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958612	0.74016	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94417	-3.3;-3.42;-3.21;0.69	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000014	D	0.94305	0.8170	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.94720	0.7900	10	0.49607	T	0.09	.	15.4145	0.74956	1.0:0.0:0.0:0.0	.	570;1175;1175	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	1130;1175;1175;260	ENSP00000356089:E1130V;ENSP00000356088:E1175V;ENSP00000347792:E1175V;ENSP00000356079:E260V	ENSP00000347792:E1175V	E	+	2	0	SYNJ2	158430926	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	6.012000	0.70767	1.275000	0.44379	0.555000	0.69702	GAG		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			3	15	3	15	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103341383	103341383	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000424685.2_Silent_p.A292A|RELN_ENST00000343529.5_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	292					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(874-876)gcG>gcA		reelin							113.0	114.0	114.0					7																	103341383		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103341383C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.876G>A	7.37:g.103341383C>T						RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	9	1035	-			292					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.876G>A	CCDS47680.1																																																																																				0.358	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	58	12	58	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358|rs397516890|rs121913355		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)gGa>gCa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						174.0	149.0	158.0					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>C	7.37:g.140481402C>G	ENSP00000288602:p.Gly469Ala						p.G469A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1466	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088365|5.088365	0.94100|0.94100	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.89415	.|-2.51	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92008|0.92008	0.7468|0.7468	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58210	.|0.835	D|D	0.92595|0.92595	0.6086|0.6086	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	Q|A	77|469	.|ENSP00000288602:G469A	.|ENSP00000288602:G469A	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	84	23	84	---	---	---	---
PPP1R42	286187	broad.mit.edu	37	8	67900709	67900709	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr8:67900709A>G	ENST00000324682.5	-	6	740	c.596T>C	c.(595-597)aTt>aCt	p.I199T	PPP1R42_ENST00000522909.1_Missense_Mutation_p.I199T	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	199					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ATTTAGATCAATTTTCCACAG	0.308																																						ENST00000522909.1																			0											c.(595-597)aTt>aCt		protein phosphatase 1, regulatory subunit 42							65.0	61.0	62.0					8																	67900709		2202	4298	6500	SO:0001583	missense	286187							g.chr8:67900709A>G	BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	33732	protein-coding gene	gene with protein product	"""testis leucine-rich repeat"""		"""leucine rich repeat containing 67"""	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.596T>C	8.37:g.67900709A>G	ENSP00000315035:p.Ile199Thr					PPP1R42_ENST00000324682.5_Missense_Mutation_p.I199T	p.I199T			Q7Z4L9	LRC67_HUMAN			6	780	-			199						Missense_Mutation	SNP	ENST00000324682.5	37	c.596T>C	CCDS34902.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036746	0.54896	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.38722	2.15;1.12	5.37	5.37	0.77165	.	0.192317	0.64402	D	0.000006	T	0.38214	0.1032	L	0.35854	1.095	0.37921	D	0.931684	B	0.14438	0.01	B	0.24394	0.053	T	0.37197	-0.9716	10	0.72032	D	0.01	-2.9371	15.6585	0.77162	1.0:0.0:0.0:0.0	.	199	Q7Z4L9-2	.	T	199	ENSP00000429721:I199T;ENSP00000315035:I199T	ENSP00000315035:I199T	I	-	2	0	LRRC67	68063263	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.270000	0.89880	2.162000	0.67917	0.528000	0.53228	ATT		0.308	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380034.2	NM_001013626		5	9	5	9	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56949994	56949994	+	Silent	SNP	C	C	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:56949994C>T	ENST00000497933.1	+	1	774	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	179	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGCTCCGAGACCTGGACCTCA	0.652																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(625-627)gaC>gaT		leucine rich repeat containing 55							55.0	56.0	56.0					11																	56949994		2201	4296	6497	SO:0001819	synonymous_variant	219527					integral to membrane		g.chr11:56949994C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.627C>T	11.37:g.56949994C>T							p.D209D	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	774	+			179			LRRCT.		A7E2U7|B2RN81	Silent	SNP	ENST00000497933.1	37	c.627C>T	CCDS31539.1																																																																																				0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		27	58	27	58	---	---	---	---
PPP1CA	5499	broad.mit.edu	37	11	67167115	67167115	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:67167115T>A	ENST00000376745.4	-	4	588	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	147					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTTCCACAGTTTGATGTTGTA	0.607																																						ENST00000376745.4																			0				breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7						c.(439-441)aAa>aTa		protein phosphatase 1, catalytic subunit, alpha isozyme							204.0	163.0	177.0					11																	67167115		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67167115T>A		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.440A>T	11.37:g.67167115T>A	ENSP00000365936:p.Lys147Ile					PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I|PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I	p.K147I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		4	588	-			147					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.440A>T	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570696	0.65765	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239	T;T;T	0.06371	3.31;3.31;3.31	5.1	3.97	0.46021	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.25269	0.0614	M	0.86028	2.79	0.58432	D	0.999999	P;P;B;B;B;B	0.48294	0.908;0.908;0.151;0.346;0.042;0.129	D;D;P;P;P;P	0.66847	0.947;0.911;0.643;0.636;0.546;0.73	T	0.00500	-1.1703	10	0.87932	D	0	.	9.817	0.40858	0.0:0.0826:0.0:0.9174	.	244;244;147;103;158;156	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	I	158;244;147;103	ENSP00000326031:K158I;ENSP00000365936:K147I;ENSP00000350974:K103I	ENSP00000326031:K158I	K	-	2	0	PPP1CA	66923691	1.000000	0.71417	0.709000	0.30452	0.253000	0.25986	8.033000	0.88852	0.792000	0.33850	0.460000	0.39030	AAA		0.607	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708		5	31	5	31	---	---	---	---
PPP2R1B	5519	broad.mit.edu	37	11	111625227	111625227	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:111625227A>C	ENST00000527614.1	-	8	1090	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	342					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTTTACCTTTATATAAGGCAG	0.294																																						ENST00000527614.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1024-1026)aTa>aGa		protein phosphatase 2, regulatory subunit A, beta							76.0	78.0	77.0					11																	111625227		2200	4295	6495	SO:0001583	missense	5519						protein binding	g.chr11:111625227A>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1025T>G	11.37:g.111625227A>C	ENSP00000437193:p.Ile342Arg					PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R	p.I342R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	8	1090	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	342					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1025T>G	CCDS8349.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.443310|4.443310	0.83993|0.83993	.|.	.|.	ENSG00000137713|ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055|ENST00000531890	T;T;T;T;T;T|.	0.37411|.	1.2;1.2;1.2;1.2;1.2;1.2|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.206543|.	0.50627|.	D|.	0.000114|.	T|.	0.73194|.	0.3556|.	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	P;P;B;D;P;D|.	0.89917|.	0.933;0.704;0.382;0.999;0.89;1.0|.	P;P;B;D;B;D|.	0.80764|.	0.683;0.664;0.237;0.98;0.432;0.994|.	T|.	0.75733|.	-0.3214|.	10|.	0.87932|0.66056	D|D	0|0.02	-3.1383|-3.1383	14.2166|14.2166	0.65797|0.65797	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	215;342;181;278;342;342|.	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2|.	.;.;.;.;2AAB_HUMAN;.|.	R|X	342;215;278;342;181;342;215|42	ENSP00000311344:I342R;ENSP00000410671:I278R;ENSP00000437193:I342R;ENSP00000415759:I181R;ENSP00000343317:I342R;ENSP00000376775:I215R|.	ENSP00000311344:I342R|ENSP00000433598:Y42X	I|Y	-|-	2|3	0|2	PPP2R1B|PPP2R1B	111130437|111130437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	8.045000|8.045000	0.89436|0.89436	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.294	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		11	18	11	18	---	---	---	---
SLC4A8	9498	broad.mit.edu	37	12	51882523	51882523	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:51882523G>T	ENST00000453097.2	+	18	2544	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AATCCCATTGGCCCCAATCCC	0.393																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2326-2328)gGc>gTc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							127.0	111.0	116.0					12																	51882523		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51882523G>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2327G>T	12.37:g.51882523G>T	ENSP00000405812:p.Gly776Val					SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	p.G776V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	18	2544	+			776						Missense_Mutation	SNP	ENST00000453097.2	37	c.2327G>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204651	0.79127	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.79554	-1.28;-1.28	4.09	4.09	0.47781	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.97110	0.952;1.0;0.995	D	0.94850	0.8013	10	0.87932	D	0	.	15.9702	0.80008	0.0:0.0:1.0:0.0	.	803;776;776	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	V	803;776;776;723	ENSP00000351483:G803V;ENSP00000405812:G776V	ENSP00000315789:G776V	G	+	2	0	SLC4A8	50168790	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.809000	0.99208	2.224000	0.72417	0.460000	0.39030	GGC		0.393	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		27	73	27	73	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:109523652G>T	ENST00000257548.5	+	13	1563	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1468-1470)ctG>ctT		ubiquitin specific peptidase 30							92.0	74.0	80.0					12																	109523652		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109523652G>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1470G>T	12.37:g.109523652G>T						USP30_ENST00000392784.2_Silent_p.L459L	p.L490L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			13	1563	+			490					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.1470G>T	CCDS9123.2																																																																																				0.597	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		5	34	5	34	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73581030	73581030	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr14:73581030G>A	ENST00000261973.7	+	18	2713	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.D810N	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	810	PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTTAGATGATGTTGCCAT	0.259																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2428-2430)Gat>Aat		RNA binding motif protein 25							81.0	87.0	85.0					14																	73581030		2203	4299	6502	SO:0001583	missense	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73581030G>A	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2428G>A	14.37:g.73581030G>A	ENSP00000261973:p.Asp810Asn					RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR	p.D810N	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	18	2713	+			810			PWI.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	c.2428G>A	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614006	0.96637	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.38240	1.15;1.15	6.03	6.03	0.97812	Splicing factor PWI (5);	0.041315	0.85682	D	0.000000	T	0.58104	0.2099	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44406	-0.9330	10	0.33141	T	0.24	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	810	P49756	RBM25_HUMAN	N	810	ENSP00000261973:D810N;ENSP00000431150:D810N	ENSP00000261973:D810N	D	+	1	0	RBM25	72650783	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.624000	0.98398	2.868000	0.98415	0.555000	0.69702	GAT		0.259	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		19	50	19	50	---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50136206	50136206	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:50136206G>T	ENST00000299192.7	+	14	1971	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	594										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TACCACCAAAGATCCTTCCCT	0.398																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1780-1782)Gat>Tat		HEAT repeat containing 3							203.0	177.0	186.0					16																	50136206		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50136206G>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1780G>T	16.37:g.50136206G>T	ENSP00000299192:p.Asp594Tyr					HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	p.D594Y	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			14	1971	+			594					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1780G>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670111	0.88348	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.71103	-0.54;-0.54	5.49	5.49	0.81192	Armadillo-type fold (1);	0.089559	0.85682	D	0.000000	D	0.83096	0.5180	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72625	0.919;0.978	D	0.83837	0.0255	10	0.72032	D	0.01	.	19.7382	0.96215	0.0:0.0:1.0:0.0	.	508;594	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	Y	508;594	ENSP00000285767:D508Y;ENSP00000299192:D594Y	ENSP00000285767:D508Y	D	+	1	0	HEATR3	48693707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.834000	0.75339	2.744000	0.94065	0.650000	0.86243	GAT		0.398	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		32	79	32	79	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27614574	27614574	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:27614574T>A	ENST00000225388.4	-	2	496	c.438A>T	c.(436-438)aaA>aaT	p.K146N	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	146						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TAATTCCTGCTTTCCCAAAGG	0.408																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(436-438)aaA>aaT		nuclear fragile X mental retardation protein interacting protein 2							123.0	121.0	122.0					17																	27614574		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614574T>A	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.438A>T	17.37:g.27614574T>A	ENSP00000225388:p.Lys146Asn					NUFIP2_ENST00000579665.1_Intron	p.K146N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	496	-			146					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.438A>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333463	0.41297	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	1.56	0.23342	.	0.059210	0.64402	D	0.000002	T	0.43634	0.1256	L	0.29908	0.895	0.80722	D	1	B	0.25609	0.13	B	0.29524	0.103	T	0.23655	-1.0182	9	0.51188	T	0.08	-3.7702	9.6708	0.40011	0.0:0.2556:0.0:0.7444	.	146	Q7Z417	NUFP2_HUMAN	N	146	.	ENSP00000225388:K146N	K	-	3	2	NUFIP2	24638700	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	1.948000	0.40303	-0.015000	0.14150	0.533000	0.62120	AAA		0.408	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		14	78	14	78	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:47696644A>C	ENST00000393328.2	-	5	669	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393331.3_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)Ttc>Gtc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696644		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696644A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.304T>G	17.37:g.47696644A>C	ENSP00000377001:p.Phe102Val	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	774	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.304T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465429	0.84425	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75869	-0.3165	10	0.39692	T	0.17	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	V	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102V;ENSP00000377004:F102V;ENSP00000240327:F102V;ENSP00000425905:F102V;ENSP00000420908:F102V;ENSP00000426986:F102V;ENSP00000420960:F102V;ENSP00000426262:F102V;ENSP00000424119:F102V;ENSP00000426537:F102V	ENSP00000240327:F102V	F	-	1	0	SPOP	45051643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		24	46	24	46	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28934953	28934953	+	Missense_Mutation	SNP	G	G	A	rs370600690		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr18:28934953G>A	ENST00000257192.4	+	15	3006	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	932					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAACTTCCGGCATGATAGG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23800	0.0		0.0	False		,,,				2504	0.0					ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2794-2796)Ggc>Agc		desmoglein 1		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	232.0	224.0	227.0		2794	6.2	1.0	18		227	0,8600		0,0,4300	no	missense	DSG1	NM_001942.2	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	932/1050	28934953	2,13004	2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934953G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2794G>A	18.37:g.28934953G>A	ENSP00000257192:p.Gly932Ser					RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.G932S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3006	+			932					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2794G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934558	0.34189	4.54E-4	0.0	ENSG00000134760	ENST00000257192	T	0.79940	-1.32	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.84982	0.5593	M	0.63428	1.95	0.37871	D	0.930073	D	0.76494	0.999	P	0.59171	0.853	D	0.85921	0.1446	10	0.48119	T	0.1	.	11.0573	0.47927	0.1365:0.0:0.8635:0.0	.	932	Q02413	DSG1_HUMAN	S	932	ENSP00000257192:G932S	ENSP00000257192:G932S	G	+	1	0	DSG1	27188951	0.997000	0.39634	1.000000	0.80357	0.827000	0.46813	2.515000	0.45512	2.941000	0.99782	0.655000	0.94253	GGC		0.468	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		65	165	65	165	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49653359	49653359	+	Silent	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr19:49653359G>C	ENST00000334186.4	+	29	3898	c.3549G>C	c.(3547-3549)cgG>cgC	p.R1183R	PPFIA3_ENST00000602351.1_Silent_p.R1174R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1183					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGTTCCCGGGCAGACGGCG	0.652																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(3547-3549)cgG>cgC		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							53.0	45.0	48.0					19																	49653359		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49653359G>C	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3549G>C	19.37:g.49653359G>C						PPFIA3_ENST00000602351.1_Silent_p.R1174R	p.R1183R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	29	3898	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1183					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.3549G>C	CCDS12758.1																																																																																				0.652	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	17	4	17	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60887332	60887332	+	Missense_Mutation	SNP	C	C	T	rs535545260		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:60887332C>T	ENST00000252999.3	-	69	9467	c.9401G>A	c.(9400-9402)cGc>cAc	p.R3134H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3134	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAGCGCCAGGCGAAGGAAGCC	0.682													.|||	1	0.000199681	0.0	0.0	5008	,	,		15520	0.0		0.0	False		,,,				2504	0.001					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(9400-9402)cGc>cAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						33.0	35.0	34.0					20																	60887332		2190	4291	6481	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60887332C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9401G>A	20.37:g.60887332C>T	ENSP00000252999:p.Arg3134His						p.R3134H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		69	9467	-	Breast(26;1.57e-08)		3134			Laminin G-like 3.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.9401G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	6.672	0.492505	0.12702	.	.	ENSG00000130702	ENST00000252999	T	0.44482	0.92	4.06	-1.67	0.08238	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.792234	0.11846	N	0.523827	T	0.22627	0.0546	L	0.27053	0.805	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.16247	-1.0409	10	0.45353	T	0.12	.	1.6352	0.02740	0.1515:0.2622:0.3368:0.2496	.	3134	O15230	LAMA5_HUMAN	H	3134	ENSP00000252999:R3134H	ENSP00000252999:R3134H	R	-	2	0	LAMA5	60320727	0.002000	0.14202	0.344000	0.25628	0.002000	0.02628	0.708000	0.25719	-0.352000	0.08237	-2.393000	0.00227	CGC		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	24	3	24	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41551004	41551004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr21:41551004G>A	ENST00000400454.1	-	15	3274	c.2797C>T	c.(2797-2799)Cag>Tag	p.Q933*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	933	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGTTCTCTGAGCAGAATCC	0.448																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2797-2799)Cag>Tag		Down syndrome cell adhesion molecule							153.0	147.0	149.0					21																	41551004		1909	4122	6031	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41551004G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2797C>T	21.37:g.41551004G>A	ENSP00000383303:p.Gln933*						p.Q933*	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN			15	3274	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	933			Fibronectin type-III 1.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.2797C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	40	8.083401	0.98646	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	4.5	4.5	0.54988	.	0.067105	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	17.1669	0.86819	0.0:0.0:1.0:0.0	.	.	.	.	X	933;685	.	ENSP00000383303:Q933X	Q	-	1	0	DSCAM	40472874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.536000	0.73842	2.208000	0.71279	0.561000	0.74099	CAG		0.448	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	35	14	35	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40805725	40805725	+	IGR	SNP	G	G	C			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr22:40805725G>C	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.V738L	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGACATGCTGGTGAAGCACCA	0.667			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(2212-2214)Gtg>Ctg		small G protein signaling modulator 3							91.0	93.0	92.0					22																	40805725		2203	4300	6503	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40805725G>C	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40805725G>C							p.V738L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			22	2401	+			738					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2212G>C	CCDS14003.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.68|15.68	2.905412|2.905412	0.52333|0.52333	.|.	.|.	ENSG00000100359|ENSG00000100359	ENST00000417424|ENST00000248929	.|T	.|0.14391	.|2.51	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17874|0.17874	0.0429|0.0429	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27416	.|0.019;0.178;0.042	.|B;B;B	.|0.33799	.|0.015;0.17;0.049	T|T	0.04307|0.04307	-1.0961|-1.0961	5|10	.|0.51188	.|T	.|0.08	.|.	18.3415|18.3415	0.90307|0.90307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|649;766;738	.|B4DVE3;Q96HU1-2;Q96HU1	.|.;.;SGSM3_HUMAN	A|L	90|738	.|ENSP00000248929:V738L	.|ENSP00000248929:V738L	G|V	+|+	2|1	0|0	SGSM3|SGSM3	39135671|39135671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.205000|0.205000	0.24178|0.24178	7.414000|7.414000	0.80117|0.80117	2.410000|2.410000	0.81850|0.81850	0.558000|0.558000	0.71614|0.71614	GGT|GTG		0.667	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		35	92	35	92	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37660566	37660566	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chrX:37660566T>A	ENST00000378588.4	+	8	929	c.862T>A	c.(862-864)Ttt>Att	p.F288I	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I|CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	288	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GTTGGTGCGGTTTTGGCGATC	0.408																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(862-864)Ttt>Att		cytochrome b-245, beta polypeptide							355.0	305.0	322.0					X																	37660566		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37660566T>A	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.862T>A	X.37:g.37660566T>A	ENSP00000367851:p.Phe288Ile					CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|CYBB_ENST00000536160.1_Missense_Mutation_p.F21I|TM4SF2_ENST00000465127.1_Intron	p.F288I	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			8	929	+			288			FAD-binding FR-type.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.862T>A	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789418	0.70337	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.93659	-3.26;-3.26;-3.26	5.91	5.91	0.95273	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.043420	0.85682	D	0.000000	D	0.90889	0.7137	L	0.58302	1.8	0.80722	D	1	B;P	0.35174	0.128;0.488	B;B	0.32022	0.098;0.139	D	0.89181	0.3544	10	0.26408	T	0.33	.	15.265	0.73654	0.0:0.0:0.0:1.0	.	256;288	F5GWD2;P04839	.;CY24B_HUMAN	I	288;256;21	ENSP00000367851:F288I;ENSP00000441896:F256I;ENSP00000441958:F21I	ENSP00000367851:F288I	F	+	1	0	CYBB	37545506	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.818000	0.62657	1.989000	0.58080	0.481000	0.45027	TTT		0.408	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			61	42	61	42	---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:33226030delT	ENST00000315596.10	+	3	384	c.198delT	c.(196-198)gatfs	p.D66fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTGCTTCAGATTTTTTTCTCA	0.383																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(196-198)gatfs		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							148.0	143.0	145.0					13																	33226030		1847	4098	5945	SO:0001589	frameshift_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33226030delT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.198delT	13.37:g.33226030delT	ENSP00000313851:p.Asp66fs						p.D66fs	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	3	384	+		Lung SC(185;0.0367)	66					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	ENST00000315596.10	37	c.198delT	CCDS41878.1																																																																																				0.383	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		32	82	32	82	---	---	---	---
