#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SSX5	6758	broad.mit.edu	37	X	48053622	48053622	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:48053622G>A	ENST00000376923.1	-	3	222	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SSX5_ENST00000347757.1_Missense_Mutation_p.R75W|SSX5_ENST00000311798.1_Missense_Mutation_p.R116W			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	75	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTGCGACCCGTTTATTACGC	0.488																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(346-348)Cgg>Tgg		synovial sarcoma, X breakpoint 5							152.0	133.0	140.0					X																	48053622		2203	4299	6502	SO:0001583	missense	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053622G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.223C>T	X.37:g.48053622G>A	ENSP00000366122:p.Arg75Trp					SSX5_ENST00000347757.1_Missense_Mutation_p.R75W|SSX5_ENST00000376923.1_Missense_Mutation_p.R75W	p.R116W	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	398	-			75					Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	ENST00000376923.1	37	c.346C>T	CCDS14289.1	.	.	.	.	.	.	.	.	.	.	N	3.667	-0.068278	0.07228	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.10477	2.87;2.9;2.9	1.72	-3.44	0.04796	Krueppel-associated box (2);Krueppel-associated box-related (1);	2.609730	0.01368	N	0.012483	T	0.10680	0.0261	L	0.48362	1.52	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.12837	0.003;0.008	T	0.27434	-1.0074	10	0.54805	T	0.06	.	4.2353	0.10623	0.0:0.1851:0.4124:0.4025	.	75;116	O60225;O60225-2	SSX5_HUMAN;.	W	116;75;75	ENSP00000312415:R116W;ENSP00000366122:R75W;ENSP00000290558:R75W	ENSP00000312415:R116W	R	-	1	2	SSX5	47938566	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.994000	0.01474	-1.840000	0.01184	0.171000	0.16805	CGG		0.488	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		5	206	0	0	0	1	0	5	206				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		4	67	0	0	0	1	0	4	67				
STAT5B	6777	broad.mit.edu	37	17	40384082	40384082	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:40384082A>T	ENST00000293328.3	-	2	232	c.64T>A	c.(64-66)Tat>Aat	p.Y22N		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	22					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGCTGGCCATATAACGCTTGC	0.443																																						ENST00000293328.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(64-66)Tat>Aat		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						166.0	145.0	152.0					17																	40384082		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40384082A>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.64T>A	17.37:g.40384082A>T	ENSP00000293328:p.Tyr22Asn						p.Y22N	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	2	232	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	22					Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.64T>A	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169991	0.78452	.	.	ENSG00000173757	ENST00000293328;ENST00000415845	T;T	0.78481	-1.18;-1.18	5.03	5.03	0.67393	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	D	0.90075	0.6900	M	0.91920	3.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92302	0.5850	10	0.87932	D	0	.	14.5941	0.68392	1.0:0.0:0.0:0.0	.	22;22	Q8WW55;P51692	.;STA5B_HUMAN	N	22	ENSP00000293328:Y22N;ENSP00000398379:Y22N	ENSP00000293328:Y22N	Y	-	1	0	STAT5B	37637608	1.000000	0.71417	0.213000	0.23690	0.639000	0.38242	8.963000	0.93385	2.126000	0.65437	0.459000	0.35465	TAT		0.443	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		5	98	0	0	0	1	0	5	98				
MAP4	4134	broad.mit.edu	37	3	47958147	47958147	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:47958147C>T	ENST00000360240.6	-	7	1688	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000426837.2_Silent_p.L407L|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	390	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.L390L(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGGAAGGAGCCAAGTCCATTT	0.448																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.L390L(2)	lung(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1219-1221)ttG>ttA		microtubule-associated protein 4							148.0	146.0	146.0					3																	47958147		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958147C>T		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1170G>A	3.37:g.47958147C>T						MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L390L	p.L407L			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1308	-			390			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1221G>A	CCDS33750.1																																																																																				0.448	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		3	117	0	0	0	1	0	3	117				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	111	0	0	0	1	0	3	111				
TSPAN33	340348	broad.mit.edu	37	7	128804343	128804343	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128804343A>G	ENST00000289407.4	+	5	501	c.392A>G	c.(391-393)aAc>aGc	p.N131S	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	131					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GAGATCATCAACAATGCCATT	0.493											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(391-393)aAc>aGc		tetraspanin 33							204.0	173.0	184.0					7																	128804343		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128804343A>G		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.392A>G	7.37:g.128804343A>G	ENSP00000289407:p.Asn131Ser		OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567		p.N131S	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			5	501	+			131						Missense_Mutation	SNP	ENST00000289407.4	37	c.392A>G	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486594	0.44249	.	.	ENSG00000158457	ENST00000289407	D	0.86769	-2.17	5.95	3.61	0.41365	Tetraspanin, EC2 domain (1);	0.138036	0.64402	N	0.000004	T	0.75664	0.3880	L	0.27053	0.805	0.42316	D	0.992239	B	0.15473	0.013	B	0.19148	0.024	T	0.62364	-0.6870	10	0.14656	T	0.56	-4.361	7.3805	0.26854	0.76:0.0:0.24:0.0	.	131	Q86UF1	TSN33_HUMAN	S	131	ENSP00000289407:N131S	ENSP00000289407:N131S	N	+	2	0	TSPAN33	128591579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.180000	0.50895	0.515000	0.28320	0.533000	0.62120	AAC		0.493	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		120	168	0	0	0	1	0	120	168				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	168	0	0	0	1	0	4	168				
OR2Y1	134083	broad.mit.edu	37	5	180166657	180166657	+	Silent	SNP	G	G	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180166657G>T	ENST00000307832.2	-	1	442	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCATGATGGCCATGTAGT	0.587																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(400-402)gcC>gcA		olfactory receptor, family 2, subfamily Y, member 1							66.0	58.0	61.0					5																	180166657		2203	4300	6503	SO:0001819	synonymous_variant	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166657G>T	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.402C>A	5.37:g.180166657G>T							p.A134A	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	442	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	134					B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	c.402C>A	CCDS34323.1																																																																																				0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		3	64	1	0	1	1	1	3	64				
GUCY1A3	2982	broad.mit.edu	37	4	156631972	156631972	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:156631972A>G	ENST00000296518.7	+	6	864	c.655A>G	c.(655-657)Ata>Gta	p.I219V	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I219V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	219					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCCGGCATCATAAAGGCAGC	0.458																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(655-657)Ata>Gta		guanylate cyclase 1, soluble, alpha 3							100.0	102.0	101.0					4																	156631972		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631972A>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.655A>G	4.37:g.156631972A>G	ENSP00000296518:p.Ile219Val					GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000393832.3_5'UTR	p.I219V			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	864	+	all_hematologic(180;0.24)	Renal(120;0.0854)	219					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.655A>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.283216	0.59867	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.74	3.31	0.37934	Heme-NO binding (1);	0.085836	0.49916	N	0.000137	T	0.46328	0.1387	L	0.48174	1.505	0.46279	D	0.998967	P;P;P	0.47191	0.891;0.891;0.891	P;P;P	0.55303	0.773;0.773;0.773	T	0.19289	-1.0310	10	0.21014	T	0.42	.	10.3512	0.43937	0.8669:0.0:0.1331:0.0	.	219;219;219	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	V	219	ENSP00000424361:I219V;ENSP00000421493:I219V;ENSP00000426968:I219V;ENSP00000412201:I219V;ENSP00000296518:I219V;ENSP00000426040:I219V	ENSP00000296518:I219V	I	+	1	0	GUCY1A3	156851422	1.000000	0.71417	0.976000	0.42696	0.668000	0.39293	4.763000	0.62257	0.528000	0.28580	0.523000	0.50628	ATA		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			38	84	0	0	0	1	0	38	84				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	151	0	0	0	1	0	6	151				
PARP12	64761	broad.mit.edu	37	7	139724493	139724493	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139724493G>A	ENST00000263549.3	-	12	2846	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	658	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AAAGATGGAGGGGTCGGACAC	0.577																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1972-1974)cCc>cTc		poly (ADP-ribose) polymerase family, member 12							162.0	133.0	143.0					7																	139724493		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139724493G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1973C>T	7.37:g.139724493G>A	ENSP00000263549:p.Pro658Leu						p.P658L	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			12	2846	-	Melanoma(164;0.0142)		658			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1973C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010006	0.75046	.	.	ENSG00000059378	ENST00000263549;ENST00000541746	T	0.14893	2.47	5.18	5.18	0.71444	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74717	-0.3571	10	0.66056	D	0.02	.	18.7031	0.91627	0.0:0.0:1.0:0.0	.	658	Q9H0J9	PAR12_HUMAN	L	658;42	ENSP00000263549:P658L	ENSP00000263549:P658L	P	-	2	0	PARP12	139370962	1.000000	0.71417	0.903000	0.35520	0.179000	0.23085	9.830000	0.99415	2.418000	0.82041	0.655000	0.94253	CCC		0.577	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		5	184	0	0	0	1	0	5	184				
NOTCH1	4851	broad.mit.edu	37	9	139412245	139412245	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:139412245C>A	ENST00000277541.6	-	8	1475	c.1400G>T	c.(1399-1401)tGc>tTc	p.C467F	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	467	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGTCCAGGCAGGTGGCGTC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1399-1401)tGc>tTc		notch 1							57.0	64.0	62.0					9																	139412245		2146	4233	6379	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412245C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1400G>T	9.37:g.139412245C>A	ENSP00000277541:p.Cys467Phe	HNSCC(8;0.001)					p.C467F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1475	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	467			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1400G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224158	0.79576	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	H	0.99935	4.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96191	0.9138	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	467	P46531	NOTC1_HUMAN	F	467	ENSP00000277541:C467F	ENSP00000277541:C467F	C	-	2	0	NOTCH1	138532066	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.258000	0.78371	2.088000	0.63022	0.462000	0.41574	TGC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	104	1	0	0.217242	1	0.223927	5	104				
CXorf22	170063	broad.mit.edu	37	X	35966455	35966455	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35966455G>A	ENST00000297866.5	+	4	608	c.542G>A	c.(541-543)gGc>gAc	p.G181D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	181										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAATACCACGGCCAATTACCC	0.413																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(541-543)gGc>gAc		chromosome X open reading frame 22							195.0	154.0	168.0					X																	35966455		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35966455G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.542G>A	X.37:g.35966455G>A	ENSP00000297866:p.Gly181Asp						p.G181D	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			4	608	+			181					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.542G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759192	0.69763	.	.	ENSG00000165164	ENST00000297866	T	0.39056	1.1	4.91	4.91	0.64330	.	0.106321	0.64402	D	0.000004	T	0.61160	0.2325	M	0.72894	2.215	0.29874	N	0.826554	D	0.71674	0.998	D	0.74023	0.982	T	0.59434	-0.7455	10	0.17832	T	0.49	-24.4319	16.4434	0.83908	0.0:0.0:1.0:0.0	.	181	Q6ZTR5	CX022_HUMAN	D	181	ENSP00000297866:G181D	ENSP00000297866:G181D	G	+	2	0	CXorf22	35876376	1.000000	0.71417	0.038000	0.18304	0.029000	0.11900	6.223000	0.72257	2.169000	0.68431	0.534000	0.68092	GGC		0.413	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		60	116	0	0	0	1	0	60	116				
DDX3X	1654	broad.mit.edu	37	X	41202025	41202025	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:41202025T>C	ENST00000399959.2	+	6	1334	c.479T>C	c.(478-480)tTt>tCt	p.F160S	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.F204S|DDX3X_ENST00000457138.2_Missense_Mutation_p.F144S|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	160	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGGATTAATTTTGAGAAATAC	0.368										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(478-480)tTt>tCt		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							111.0	98.0	102.0					X																	41202025		1980	4170	6150	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41202025T>C	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.479T>C	X.37:g.41202025T>C	ENSP00000382840:p.Phe160Ser	HNSCC(61;0.18)				DDX3X_ENST00000542215.1_Missense_Mutation_p.F204S|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.F144S	p.F160S	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			6	1334	+			160					A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.479T>C	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614556	0.87359	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000542215	T;T;T	0.63255	1.79;1.81;-0.03	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	H	0.94462	3.54	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.996;0.999;0.999	D	0.89065	0.3465	10	0.87932	D	0	-15.4469	15.052	0.71881	0.0:0.0:0.0:1.0	.	160;144;160;172;160	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	S	160;144;204	ENSP00000382840:F160S;ENSP00000392494:F144S;ENSP00000439799:F204S	ENSP00000382840:F160S	F	+	2	0	DDX3X	41086969	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.937000	0.56155	0.486000	0.48141	TTT		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		6	92	0	0	0	1	0	6	92				
RNF17	56163	broad.mit.edu	37	13	25428134	25428134	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:25428134G>A	ENST00000255324.5	+	25	3514	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	RNF17_ENST00000381921.1_Silent_p.Q1154Q|RNF17_ENST00000339524.3_Silent_p.Q206Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1154					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCAGTGAACAGAAAGTGTCTG	0.403																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3460-3462)caG>caA		ring finger protein 17							84.0	86.0	86.0					13																	25428134		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25428134G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3462G>A	13.37:g.25428134G>A						RNF17_ENST00000381921.1_Silent_p.Q1154Q|RNF17_ENST00000339524.3_Silent_p.Q206Q	p.Q1154Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	25	3514	+		Lung SC(185;0.0225)|Breast(139;0.077)	1154					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.3462G>A	CCDS9308.2																																																																																				0.403	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		26	34	0	0	0	1	0	26	34				
PHF3	23469	broad.mit.edu	37	6	64394227	64394227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr6:64394227C>T	ENST00000262043.3	+	4	944	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.R202*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.R202*			Q92576	PHF3_HUMAN	PHD finger protein 3	202					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGGTGCAGCCGAAATAGCGG	0.403																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(604-606)Cga>Tga		PHD finger protein 3							164.0	136.0	145.0					6																	64394227		2203	4300	6503	SO:0001587	stop_gained	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64394227C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.604C>T	6.37:g.64394227C>T	ENSP00000262043:p.Arg202*					PHF3_ENST00000393387.1_Nonsense_Mutation_p.R202*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.R202*	p.R202*			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		4	944	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		202					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	ENST00000262043.3	37	c.604C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.405805	0.25378	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	.	.	.	5.72	4.85	0.62838	.	0.000000	0.33419	N	0.004923	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5259	7.801	0.29174	0.2476:0.6735:0.0:0.0789	.	.	.	.	X	16;114;202;155;202;202	.	ENSP00000262043:R202X	R	+	1	2	PHF3	64452186	0.938000	0.31826	0.443000	0.26883	0.145000	0.21501	1.981000	0.40628	1.415000	0.47037	0.650000	0.86243	CGA		0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			34	75	0	0	0	1	0	34	75				
PCDHB17	54661	broad.mit.edu	37	5	140537004	140537004	+	Silent	SNP	C	C	T	rs246697	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:140537004C>T	ENST00000539533.1	+	1	1428	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A						protocadherin beta 17 pseudogene																		GTGTCAGCGCCACAGACAGAG	0.642													C|||	1108	0.221246	0.4803	0.2406	5008	,	,		16144	0.0407		0.169	False		,,,				2504	0.0971					ENST00000539533.1																			0											c.(1426-1428)gcC>gcT																																						SO:0001819	synonymous_variant	0							g.chr5:140537004C>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1428C>T	5.37:g.140537004C>T							p.A476A							1	1428	+									Silent	SNP	ENST00000539533.1	37	c.1428C>T																																																																																					0.642	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	250	0	0	0	1	0	4	250				
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	rs368685662		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41.0	41.0	41.0					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	89	0	0	0	1	0	4	89				
ARNTL	406	broad.mit.edu	37	11	13402768	13402768	+	Silent	SNP	T	T	C	rs201388943		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:13402768T>C	ENST00000403290.1	+	18	1939	c.1584T>C	c.(1582-1584)ccT>ccC	p.P528P	ARNTL_ENST00000361003.4_Silent_p.P410P|ARNTL_ENST00000403482.3_Silent_p.P526P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403510.3_Silent_p.P484P|ARNTL_ENST00000389707.4_Silent_p.P527P|ARNTL_ENST00000401424.1_Silent_p.P485P|ARNTL_ENST00000396441.3_Silent_p.P527P			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	528	Interaction with CIART. {ECO:0000250|UniProtKB:Q9WTL8}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CGAGTACGCCTCCCCCTGATG	0.488													T|||	1	0.000199681	0.0	0.0	5008	,	,		20845	0.0		0.001	False		,,,				2504	0.0					ENST00000401424.1																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(1453-1455)ccT>ccC		aryl hydrocarbon receptor nuclear translocator-like							138.0	124.0	129.0					11																	13402768		2200	4294	6494	SO:0001819	synonymous_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13402768T>C	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1584T>C	11.37:g.13402768T>C						ARNTL_ENST00000389707.4_Silent_p.P527P|ARNTL_ENST00000396441.3_Silent_p.P527P|ARNTL_ENST00000403290.1_Silent_p.P528P|ARNTL_ENST00000403510.3_Silent_p.P484P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000403482.3_Silent_p.P526P|ARNTL_ENST00000361003.4_Silent_p.P410P	p.P485P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	18	1981	+			528					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	ENST00000403290.1	37	c.1455T>C																																																																																					0.488	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		3	152	0	0	0	1	0	3	152				
DPY19L1	23333	broad.mit.edu	37	7	34977700	34977700	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:34977700T>A	ENST00000310974.4	-	21	1921	c.1777A>T	c.(1777-1779)Agt>Tgt	p.S593C	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	593						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GCTTTCCGACTATACATTGAG	0.328																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1777-1779)Agt>Tgt		dpy-19-like 1 (C. elegans)							95.0	83.0	87.0					7																	34977700		1830	4092	5922	SO:0001583	missense	23333					integral to membrane		g.chr7:34977700T>A	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1777A>T	7.37:g.34977700T>A	ENSP00000308695:p.Ser593Cys						p.S593C	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			21	1921	-			593					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.1777A>T	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627481	0.87560	.	.	ENSG00000173852	ENST00000389292;ENST00000310974	T	0.66280	-0.2	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85197	0.1013	10	0.87932	D	0	-17.4685	15.3426	0.74309	0.0:0.0:0.0:1.0	.	593	Q2PZI1	D19L1_HUMAN	C	3;593	ENSP00000308695:S593C	ENSP00000308695:S593C	S	-	1	0	DPY19L1	34944225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.131000	0.77243	2.229000	0.72834	0.472000	0.43445	AGT		0.328	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			18	17	0	0	0	1	0	18	17				
BIRC8	112401	broad.mit.edu	37	19	53793157	53793157	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:53793157C>T	ENST00000426466.1	-	1	1718	c.471G>A	c.(469-471)caG>caA	p.Q157Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	157					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TAGTGTCTTTCTGAGCGCTCA	0.408																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(469-471)caG>caA		baculoviral IAP repeat containing 8							99.0	99.0	99.0					19																	53793157		2203	4300	6503	SO:0001819	synonymous_variant	112401				apoptosis		zinc ion binding	g.chr19:53793157C>T	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.471G>A	19.37:g.53793157C>T							p.Q157Q	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1718	-			157					Q6IPY1|Q96RW5	Silent	SNP	ENST00000426466.1	37	c.471G>A	CCDS12863.1																																																																																				0.408	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		3	52	0	0	0	1	0	3	52				
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:47958144A>G	ENST00000360240.6	-	7	1691	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000426837.2_Silent_p.A408A|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTTGGAAGGAGCCAAGTCCA	0.443																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.A391A(2)	lung(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1222-1224)gcT>gcC		microtubule-associated protein 4							148.0	145.0	146.0					3																	47958144		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958144A>G		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1173T>C	3.37:g.47958144A>G						MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.A391A	p.A408A			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1311	-			391			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1224T>C	CCDS33750.1																																																																																				0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		3	119	0	0	0	1	0	3	119				
DBX2	440097	broad.mit.edu	37	12	45410365	45410365	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr12:45410365G>A	ENST00000332700.6	-	4	895	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	242					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TTGGAATTCCGCCATTTCATC	0.403																																						ENST00000332700.6																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(724-726)Cgg>Tgg		developing brain homeobox 2							113.0	117.0	116.0					12																	45410365		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45410365G>A		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.724C>T	12.37:g.45410365G>A	ENSP00000331470:p.Arg242Trp						p.R242W	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	4	895	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	242						Missense_Mutation	SNP	ENST00000332700.6	37	c.724C>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225572	0.79576	.	.	ENSG00000185610	ENST00000332700	D	0.97665	-4.48	5.63	4.7	0.59300	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.122406	0.37577	N	0.002037	D	0.98820	0.9602	H	0.95224	3.64	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99000	1.0811	10	0.87932	D	0	-21.1709	13.6389	0.62237	0.0:0.0:0.7215:0.2785	.	242	Q6ZNG2	DBX2_HUMAN	W	242	ENSP00000331470:R242W	ENSP00000331470:R242W	R	-	1	2	DBX2	43696632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.849000	0.55910	2.645000	0.89757	0.557000	0.71058	CGG		0.403	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		13	140	0	0	0	1	0	13	140				
SLC9C1	285335	broad.mit.edu	37	3	111898484	111898484	+	Missense_Mutation	SNP	G	G	A	rs572197977	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:111898484G>A	ENST00000305815.5	-	23	3065	c.2813C>T	c.(2812-2814)cCg>cTg	p.P938L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.P890L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	938					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTCAATTATCGGAAAATCTTT	0.358													G|||	6	0.00119808	0.0	0.0	5008	,	,		14907	0.0		0.0	False		,,,				2504	0.0061					ENST00000305815.5																			0											c.(2812-2814)cCg>cTg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							87.0	87.0	87.0					3																	111898484		2202	4299	6501	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111898484G>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2813C>T	3.37:g.111898484G>A	ENSP00000306627:p.Pro938Leu					SLC9C1_ENST00000487372.1_Missense_Mutation_p.P890L	p.P938L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			23	3065	-			938					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.2813C>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	4.333	0.061279	0.08339	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.77877	-1.13;-1.13	4.59	-0.581	0.11713	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	1.138080	0.06582	N	0.750532	T	0.67878	0.2940	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.50816	-0.8783	10	0.33940	T	0.23	-17.8003	9.9447	0.41602	0.1091:0.0:0.6643:0.2266	.	890;938	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	938;890	ENSP00000306627:P938L;ENSP00000420688:P890L	ENSP00000306627:P938L	P	-	2	0	SLC9A10	113381174	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.362000	0.08113	-1.303000	0.01326	CCG		0.358	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		4	43	0	0	0	1	0	4	43				
GRIA3	2892	broad.mit.edu	37	X	122598965	122598965	+	Splice_Site	SNP	T	T	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:122598965T>A	ENST00000371251.1	+	13	2376		c.e13+2		GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000264357.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|AL356213.1_ENST00000577653.1_RNA			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AGCATTAAGGTGGGTGGAATA	0.393																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.e13+2		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						104.0	97.0	99.0					X																	122598965		2203	4300	6503	SO:0001630	splice_region_variant	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122598965T>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.2324+2T>A	X.37:g.122598965T>A						GRIA3_ENST00000371251.1_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site|AL356213.1_ENST00000577653.1_RNA		NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			13	2616	+								D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Splice_Site	SNP	ENST00000371251.1	37		CCDS14604.1	.	.	.	.	.	.	.	.	.	.	t	14.29	2.492670	0.44352	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5028	0.61467	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA3	122426646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	1.784000	0.52394	0.336000	0.21669	.		0.393	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828	Intron	8	109	0	0	0	1	0	8	109				
ATP2B3	492	broad.mit.edu	37	X	152807342	152807342	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:152807342G>A	ENST00000349466.2	+	4	948	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	ATP2B3_ENST00000370186.1_Missense_Mutation_p.V208M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V208M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V208M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V208M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	208					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCCCCGTGGCTGCGCT	0.622																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(622-624)Gtg>Atg		ATPase, Ca++ transporting, plasma membrane 3							82.0	79.0	80.0					X																	152807342		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807342G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.622G>A	X.37:g.152807342G>A	ENSP00000343886:p.Val208Met					ATP2B3_ENST00000359149.3_Missense_Mutation_p.V208M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V208M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V208M	p.V208M			Q16720	AT2B3_HUMAN			4	948	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		208					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.622G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	34	5.291634	0.95546	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.79	5.79	0.91817	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.140101	0.46442	D	0.000292	D	0.93423	0.7902	M	0.82716	2.605	0.54753	D	0.999983	D;P	0.54047	0.964;0.955	P;P	0.48952	0.596;0.461	D	0.94299	0.7535	10	0.87932	D	0	-31.5342	17.6305	0.88106	0.0:0.0:1.0:0.0	.	208;208	Q16720;Q16720-2	AT2B3_HUMAN;.	M	208	ENSP00000359205:V208M;ENSP00000343886:V208M;ENSP00000377425:V208M;ENSP00000352062:V208M;ENSP00000263519:V208M;ENSP00000359200:V208M	ENSP00000263519:V208M	V	+	1	0	ATP2B3	152460536	1.000000	0.71417	0.930000	0.37139	0.967000	0.64934	7.965000	0.87945	2.435000	0.82474	0.600000	0.82982	GTG		0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		6	147	0	0	0	1	0	6	147				
CATSPERD	257062	broad.mit.edu	37	19	5727283	5727283	+	Missense_Mutation	SNP	G	G	A	rs182825334		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:5727283G>A	ENST00000381624.3	+	3	192	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	44					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCTAGGACCGCCTGTATTTT	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19125	0.0		0.0	False		,,,				2504	0.0					ENST00000381624.3																			0											c.(130-132)cGc>cAc		catsper channel auxiliary subunit delta		G	HIS/ARG	2,3630		0,2,1814	103.0	95.0	98.0		131	-6.0	0.0	19		98	21,8115		0,21,4047	yes	missense	TMEM146	NM_152784.3	29	0,23,5861	AA,AG,GG		0.2581,0.0551,0.1954	probably-damaging	44/799	5727283	23,11745	1816	4068	5884	SO:0001583	missense	257062					integral to membrane		g.chr19:5727283G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.131G>A	19.37:g.5727283G>A	ENSP00000371037:p.Arg44His					CATSPERD_ENST00000381614.2_5'UTR	p.R44H	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			3	192	+			44					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.131G>A	CCDS12149.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.933	0.356130	0.11239	5.51E-4	0.002581	ENSG00000174898	ENST00000381624	T	0.24908	1.83	3.0	-5.99	0.02213	.	.	.	.	.	T	0.19167	0.0460	L	0.44542	1.39	0.09310	N	0.999999	D	0.59357	0.985	P	0.46510	0.519	T	0.18871	-1.0323	9	0.49607	T	0.09	.	2.5935	0.04848	0.3028:0.1651:0.4073:0.1248	.	44	Q86XM0	TM146_HUMAN	H	44	ENSP00000371037:R44H	ENSP00000371037:R44H	R	+	2	0	TMEM146	5678283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.541000	0.00218	-4.388000	0.00052	-1.613000	0.00800	CGC		0.338	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		6	79	0	0	0	1	0	6	79				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	63	0	0	0	1	0	3	63				
NR1H3	10062	broad.mit.edu	37	11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(256-258)aAg>aGg		nuclear receptor subfamily 1, group H, member 3							73.0	75.0	75.0					11																	47281984		2201	4298	6499	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281984A>G	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.257A>G	11.37:g.47281984A>G	ENSP00000420656:p.Lys86Arg					NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000527949.1_5'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R	p.K86R			Q13133	NR1H3_HUMAN			3	1495	+			86					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.257A>G	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924104	0.92319	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000407404;ENST00000444396;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000436029;ENST00000467728;ENST00000405853	D;D;D;D;D;D;D;D;D;D;D;D	0.93659	-2.89;-3.2;-3.07;-2.47;-3.26;-2.62;-2.62;-2.47;-2.93;-2.48;-2.93;-3.26	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	L	0.36672	1.1	0.80722	D	1	P;D;D;D	0.89917	0.784;1.0;0.987;0.966	B;D;D;D	0.91635	0.41;0.999;0.913;0.953	D	0.95401	0.8490	10	0.72032	D	0.01	.	15.4324	0.75112	1.0:0.0:0.0:0.0	.	92;86;41;86	B4DXU5;Q13133;E9PLL4;Q13133-2	.;NR1H3_HUMAN;.;.	R	41;41;41;86;86;86;41;86;86;86;86;86	ENSP00000378793:K41R;ENSP00000385073:K41R;ENSP00000433271:K41R;ENSP00000403798:K86R;ENSP00000385801:K86R;ENSP00000391005:K86R;ENSP00000412636:K41R;ENSP00000415591:K86R;ENSP00000387946:K86R;ENSP00000403696:K86R;ENSP00000420656:K86R;ENSP00000384745:K86R	ENSP00000378793:K41R	K	+	2	0	NR1H3	47238560	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.935000	0.75886	2.098000	0.63641	0.379000	0.24179	AAG		0.567	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			4	103	0	0	0	1	0	4	103				
LOXL4	84171	broad.mit.edu	37	10	100012144	100012144	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr10:100012144G>A	ENST00000260702.3	-	12	2067	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	639	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACAGAAGCTGGCCTTGTGCC	0.532																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1915-1917)gcC>gcT		lysyl oxidase-like 4							175.0	162.0	167.0					10																	100012144		2203	4300	6503	SO:0001819	synonymous_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100012144G>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1917C>T	10.37:g.100012144G>A						RP11-34A14.3_ENST00000433374.1_RNA	p.A639A	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	12	2067	-		Colorectal(252;0.234)	639			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	c.1917C>T	CCDS7473.1																																																																																				0.532	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		22	203	0	0	0	1	0	22	203				
PCF11	51585	broad.mit.edu	37	11	82877743	82877743	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:82877743G>A	ENST00000298281.4	+	5	2256	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	602					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCTGGTTGGGAAGAAAATAA	0.318																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1804-1806)Gaa>Aaa		PCF11 cleavage and polyadenylation factor subunit							74.0	78.0	77.0					11																	82877743		1694	3663	5357	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877743G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1804G>A	11.37:g.82877743G>A	ENSP00000298281:p.Glu602Lys						p.E602K	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2256	+			602					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1804G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531166	0.85706	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.66460	0.66;-0.21;-0.03	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000009	T	0.75436	0.3849	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.70978	-0.4725	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	602;602	E9PQ01;O94913	.;PCF11_HUMAN	K	602	ENSP00000298281:E602K;ENSP00000434540:E602K;ENSP00000431567:E602K	.	E	+	1	0	PCF11	82555391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.912000	0.92726	2.885000	0.99019	0.655000	0.94253	GAA		0.318	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		27	46	0	0	0	1	0	27	46				
HDC	3067	broad.mit.edu	37	15	50534698	50534698	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr15:50534698C>T	ENST00000267845.3	-	12	2150	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	HDC_ENST00000543581.1_Missense_Mutation_p.R550H|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.R583L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACTGAGGGAGCGCACCGTCTT	0.542																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			1	Substitution - Missense(1)	p.R583L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1747-1749)cGc>cAc		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						167.0	176.0	173.0					15																	50534698		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534698C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1748G>A	15.37:g.50534698C>T	ENSP00000267845:p.Arg583His					HDC_ENST00000543581.1_Missense_Mutation_p.R550H	p.R583H	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	2150	-		all_lung(180;0.0138)	583						Missense_Mutation	SNP	ENST00000267845.3	37	c.1748G>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333766	0.60853	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.22945	2.44;1.93	5.68	5.68	0.88126	.	0.645193	0.14441	N	0.319397	T	0.46268	0.1384	L	0.38175	1.15	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.37888	-0.9686	10	0.87932	D	0	-18.4835	19.786	0.96437	0.0:1.0:0.0:0.0	.	550;583	B7ZM01;P19113	.;DCHS_HUMAN	H	583;550	ENSP00000267845:R583H;ENSP00000440252:R550H	ENSP00000267845:R583H	R	-	2	0	HDC	48321990	0.999000	0.42202	0.737000	0.30932	0.033000	0.12548	5.198000	0.65147	2.676000	0.91093	0.563000	0.77884	CGC		0.542	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			91	173	0	0	0	1	0	91	173				
DNAH2	146754	broad.mit.edu	37	17	7683487	7683487	+	Missense_Mutation	SNP	G	G	A	rs147216751		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:7683487G>A	ENST00000572933.1	+	37	7195	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1912	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGCTGGCCGCACAGAGCTT	0.463																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5734-5736)cGc>cAc		dynein, axonemal, heavy chain 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	214.0	204.0	207.0		5735	5.3	1.0	17	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1912/4428	7683487	2,13004	2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7683487G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5735G>A	17.37:g.7683487G>A	ENSP00000458355:p.Arg1912His					DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H	p.R1912H			Q9P225	DYH2_HUMAN			37	7195	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1912			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.5735G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313707	0.95655	2.27E-4	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.15017	2.46	5.35	5.35	0.76521	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71461	-0.4586	10	0.87932	D	0	.	17.9933	0.89175	0.0:0.0:1.0:0.0	.	1912	Q9P225	DYH2_HUMAN	H	1912	ENSP00000373825:R1912H	ENSP00000353818:R1912H	R	+	2	0	DNAH2	7624212	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.590000	0.82653	2.785000	0.95823	0.655000	0.94253	CGC		0.463	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	271	0	0	0	1	0	4	271				
BTNL8	79908	broad.mit.edu	37	5	180338435	180338435	+	Missense_Mutation	SNP	C	C	T	rs370167264		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180338435C>T	ENST00000340184.4	+	3	700	c.494C>T	c.(493-495)gCg>gTg	p.A165V	BTNL8_ENST00000231229.4_Missense_Mutation_p.A165V|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000400707.3_Missense_Mutation_p.A40V|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.A49V|BTNL8_ENST00000508408.1_Missense_Mutation_p.A165V|BTNL8_ENST00000533815.2_5'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCCCACAGCGAAGTGGAAA	0.537																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(493-495)gCg>gTg		butyrophilin-like 8		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,,VAL/ALA	0,4406		0,0,2203	144.0	155.0	151.0		494,146,494,119,,494	-0.3	0.0	5		151	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense,missense,utr-5,missense	BTNL8	NM_001040462.2,NM_001159707.1,NM_001159708.1,NM_001159709.1,NM_001159710.1,NM_024850.2	64,64,64,64,,64	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,,benign	165/501,49/385,165/341,40/376,,165/348	180338435	1,12997	2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338435C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.494C>T	5.37:g.180338435C>T	ENSP00000342197:p.Ala165Val					BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.A165V|BTNL8_ENST00000340184.4_Missense_Mutation_p.A165V|BTNL8_ENST00000511704.1_Missense_Mutation_p.A49V|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.A40V	p.A165V	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	728	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	165			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.494C>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	0.366	-0.936482	0.02340	0.0	1.16E-4	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704	T;T;T;T;T	0.03889	3.77;3.77;3.77;3.77;3.77	3.69	-0.256	0.12984	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01387	0.0045	N	0.02379	-0.575	0.21950	N	0.999455	B;B;B;B;B	0.29571	0.123;0.046;0.128;0.249;0.024	B;B;B;B;B	0.15484	0.004;0.004;0.013;0.013;0.003	T	0.43814	-0.9368	9	0.02654	T	1	.	6.1513	0.20313	0.0:0.3741:0.0:0.6259	.	40;49;165;165;165	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	V	165;165;40;165;49	ENSP00000231229:A165V;ENSP00000342197:A165V;ENSP00000383543:A40V;ENSP00000424585:A165V;ENSP00000425207:A49V	ENSP00000231229:A165V	A	+	2	0	BTNL8	180271041	0.000000	0.05858	0.000000	0.03702	0.197000	0.23852	-0.223000	0.09177	-0.236000	0.09753	0.205000	0.17691	GCG		0.537	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		14	268	0	0	0	1	0	14	268				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			32	74	0	0	0	1	0	32	74				
RBM4B	83759	broad.mit.edu	37	11	66436387	66436387	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:66436387A>G	ENST00000525754.1	-	2	1456	c.788T>C	c.(787-789)cTc>cCc	p.L263P	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000529195.2_5'Flank|RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000310046.4_Missense_Mutation_p.L263P|RP11-658F2.8_ENST00000548810.1_RNA			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	263	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGTAGAGTTGAGGTGGCTGGT	0.562																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(787-789)cTc>cCc		RNA binding motif protein 4B							94.0	96.0	95.0					11																	66436387		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436387A>G	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.788T>C	11.37:g.66436387A>G	ENSP00000433071:p.Leu263Pro					RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.L263P	p.L263P			Q9BQ04	RBM4B_HUMAN			2	1456	-			263			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.788T>C	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.472109	0.63737	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.26660	1.72;1.72	6.16	6.16	0.99307	.	0.270733	0.38164	N	0.001795	T	0.32041	0.0816	M	0.61703	1.905	0.80722	D	1	D	0.56521	0.976	P	0.47864	0.559	T	0.06516	-1.0822	10	0.36615	T	0.2	-21.1235	10.1578	0.42833	0.9254:0.0:0.0746:0.0	.	263	Q9BQ04	RBM4B_HUMAN	P	263	ENSP00000433071:L263P;ENSP00000310471:L263P	ENSP00000310471:L263P	L	-	2	0	RBM4B	66192963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.689000	0.54706	2.367000	0.80283	0.528000	0.53228	CTC		0.562	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		3	141	0	0	0	1	0	3	141				
KMT2A	4297	broad.mit.edu	37	11	118390456	118390456	+	Missense_Mutation	SNP	A	A	G	rs564690648		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:118390456A>G	ENST00000389506.5	+	32	11261	c.11261A>G	c.(11260-11262)aAt>aGt	p.N3754S	RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.N3716S|KMT2A_ENST00000534358.1_Missense_Mutation_p.N3757S|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3754					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.N3757S(1)|p.N3754S(1)									GAGGAGGCCAATGAACCCCCC	0.507													A|||	1	0.000199681	0.0	0.0	5008	,	,		20518	0.0		0.0	False		,,,				2504	0.001					ENST00000534358.1																			2	Substitution - Missense(2)	p.N3757S(1)|p.N3754S(1)	kidney(2)								c.(11269-11271)aAt>aGt		lysine (K)-specific methyltransferase 2A							119.0	114.0	116.0					11																	118390456		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118390456A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11261A>G	11.37:g.118390456A>G	ENSP00000374157:p.Asn3754Ser					KMT2A_ENST00000354520.4_Missense_Mutation_p.N3716S|KMT2A_ENST00000389506.5_Missense_Mutation_p.N3754S|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA	p.N3757S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					32	11293	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11270A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672490	0.47781	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;T	0.81499	-1.5;-1.5;-1.47	5.82	5.82	0.92795	.	0.097922	0.64402	D	0.000001	T	0.62925	0.2468	N	0.08118	0	0.48511	D	0.999665	P;P	0.39782	0.688;0.688	B;B	0.31442	0.13;0.13	T	0.69191	-0.5210	10	0.46703	T	0.11	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	3757;3754	E9PQG7;Q03164	.;MLL1_HUMAN	S	3757;3754;3716;2664	ENSP00000436786:N3757S;ENSP00000374157:N3754S;ENSP00000346516:N3716S	ENSP00000346516:N3716S	N	+	2	0	MLL	117895666	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.013000	0.76373	2.225000	0.72522	0.460000	0.39030	AAT		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		4	116	0	0	0	1	0	4	116				
AMER3	205147	broad.mit.edu	37	2	131521709	131521709	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:131521709C>T	ENST00000423981.1	+	2	2174	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	AMER3_ENST00000321420.4_Silent_p.N688N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	688					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TCAGCTCAAACGAACAGCCCC	0.652																																						ENST00000423981.1																			0											c.(2062-2064)aaC>aaT		APC membrane recruitment protein 3							21.0	23.0	22.0					2																	131521709		2201	4299	6500	SO:0001819	synonymous_variant	205147							g.chr2:131521709C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2064C>T	2.37:g.131521709C>T						AMER3_ENST00000321420.4_Silent_p.N688N	p.N688N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	2174	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2064C>T	CCDS2164.1																																																																																				0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		10	6	0	0	0	1	0	10	6				
CLDN16	10686	broad.mit.edu	37	3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:190120187G>A	ENST00000264734.2	+	2	634	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	129					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(385-387)cGc>cAc		claudin 16							183.0	166.0	172.0					3																	190120187		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190120187G>A	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.386G>A	3.37:g.190120187G>A	ENSP00000264734:p.Arg129His					CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	p.R129H	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	2	634	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		129						Missense_Mutation	SNP	ENST00000264734.2	37	c.386G>A	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221367	0.58560	.	.	ENSG00000113946	ENST00000264734	D	0.88509	-2.39	5.72	5.72	0.89469	Claudin, conserved site (1);	0.078352	0.53938	D	0.000043	D	0.90075	0.6900	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.85879	0.1421	10	0.15499	T	0.54	-30.0013	8.3904	0.32524	0.1647:0.0:0.8353:0.0	.	129	Q9Y5I7	CLD16_HUMAN	H	129	ENSP00000264734:R129H	ENSP00000264734:R129H	R	+	2	0	CLDN16	191602881	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	3.165000	0.50778	2.707000	0.92482	0.650000	0.86243	CGC		0.488	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		21	161	0	0	0	1	0	21	161				
GGT6	124975	broad.mit.edu	37	17	4463042	4463042	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:4463042C>T	ENST00000574154.1	-	2	450	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	GGT6_ENST00000301395.3_Missense_Mutation_p.G52R|GGT6_ENST00000381550.3_Missense_Mutation_p.G52R|GGT6_ENST00000573591.1_5'UTR			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	52					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.G52W(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCGGGCAGCCCGCCAGCCTTG	0.652																																						ENST00000301395.3																			1	Substitution - Missense(1)	p.G52W(1)	lung(1)	endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(154-156)Ggg>Agg		gamma-glutamyltransferase 6							19.0	22.0	21.0					17																	4463042		2183	4267	6450	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4463042C>T	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.154G>A	17.37:g.4463042C>T	ENSP00000458307:p.Gly52Arg					GGT6_ENST00000381550.3_Missense_Mutation_p.G52R|GGT6_ENST00000573591.1_5'UTR|GGT6_ENST00000574154.1_Missense_Mutation_p.G52R	p.G52R	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			2	213	-			52					B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.154G>A	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	C	9.458	1.092316	0.20471	.	.	ENSG00000167741	ENST00000381550;ENST00000301395	T;T	0.25250	2.57;1.81	5.32	-0.233	0.13078	.	0.471361	0.20167	N	0.097817	T	0.12135	0.0295	N	0.25890	0.77	0.09310	N	0.999999	B;B;B	0.32526	0.111;0.119;0.374	B;B;B	0.22601	0.011;0.012;0.04	T	0.14587	-1.0467	10	0.37606	T	0.19	-14.1518	5.3197	0.15874	0.0:0.5215:0.1424:0.3361	.	52;52;52	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	R	52	ENSP00000370962:G52R;ENSP00000301395:G52R	ENSP00000301395:G52R	G	-	1	0	GGT6	4409791	0.000000	0.05858	0.001000	0.08648	0.230000	0.25150	-0.043000	0.12043	0.072000	0.16694	0.655000	0.94253	GGG		0.652	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		7	41	0	0	0	1	0	7	41				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	114	0	0	0	1	0	4	114				
TBXAS1	6916	broad.mit.edu	37	7	139529240	139529240	+	Silent	SNP	G	G	A	rs201600575		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139529240G>A	ENST00000455353.1	+	1	188	c.51G>A	c.(49-51)acG>acA	p.T17T	TBXAS1_ENST00000411653.1_Silent_p.T17T|TBXAS1_ENST00000414508.2_Silent_p.T18T|TBXAS1_ENST00000539806.1_Silent_p.T18T|TBXAS1_ENST00000263552.6_Silent_p.T18T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Silent_p.T18T|TBXAS1_ENST00000448866.1_Silent_p.T17T|TBXAS1_ENST00000336425.5_Silent_p.T17T|TBXAS1_ENST00000458722.1_Silent_p.T17T|TBXAS1_ENST00000416849.2_Silent_p.T18T|TBXAS1_ENST00000425687.1_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	17					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCATGGTGACGGTGGCCCTGT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17045	0.001		0.0	False		,,,				2504	0.0					ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(52-54)acG>acA		thromboxane A synthase 1 (platelet)							71.0	63.0	66.0					7																	139529240		2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139529240G>A	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.51G>A	7.37:g.139529240G>A						TBXAS1_ENST00000539806.1_Silent_p.T18T|TBXAS1_ENST00000416849.2_Silent_p.T18T|TBXAS1_ENST00000414508.2_Silent_p.T18T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000411653.1_Silent_p.T17T|TBXAS1_ENST00000458722.1_Silent_p.T17T|TBXAS1_ENST00000448866.1_Silent_p.T17T|TBXAS1_ENST00000336425.5_Silent_p.T17T|TBXAS1_ENST00000436047.2_Silent_p.T18T|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000455353.1_Silent_p.T17T	p.T18T	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			5	592	+	Melanoma(164;0.0142)		17					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000455353.1	37	c.54G>A																																																																																					0.572	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			3	59	0	0	0	1	0	3	59				
DKK2	27123	broad.mit.edu	37	4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:107956552C>G	ENST00000285311.3	-	1	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	66					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577																																						ENST00000285311.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(196-198)aGt>aCt		dickkopf WNT signaling pathway inhibitor 2							60.0	63.0	62.0					4																	107956552		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107956552C>G	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.197G>C	4.37:g.107956552C>G	ENSP00000285311:p.Ser66Thr					DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	p.S66T	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	1	902	-		Hepatocellular(203;0.217)	66					A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.197G>C	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726461	0.30593	.	.	ENSG00000155011	ENST00000285311	T	0.42900	0.96	5.3	5.3	0.74995	.	0.206092	0.50627	D	0.000102	T	0.33990	0.0882	N	0.19112	0.55	0.80722	D	1	P;B	0.47762	0.9;0.0	B;B	0.43867	0.434;0.001	T	0.06752	-1.0809	10	0.36615	T	0.2	-14.3108	17.3206	0.87234	0.0:1.0:0.0:0.0	.	66;66	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	T	66	ENSP00000285311:S66T	ENSP00000285311:S66T	S	-	2	0	DKK2	108176001	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.974000	0.49272	2.764000	0.94973	0.637000	0.83480	AGT		0.577	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			4	74	0	0	0	1	0	4	74				
KRT35	3886	broad.mit.edu	37	17	39635168	39635168	+	Missense_Mutation	SNP	C	C	T	rs573378713	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:39635168C>T	ENST00000393989.1	-	4	833	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	KRT35_ENST00000246639.2_Missense_Mutation_p.R234Q	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	264	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTCCAGAACTCGGTTCAGGTC	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19486	0.0		0.0	False		,,,				2504	0.0					ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(700-702)cGa>cAa		keratin 35																																				SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635168C>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.791G>A	17.37:g.39635168C>T	ENSP00000377558:p.Arg264Gln					KRT35_ENST00000393989.1_Missense_Mutation_p.R264Q	p.R234Q			Q92764	KRT35_HUMAN			4	833	-		Breast(137;0.000286)	264			Coil 1B.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.701G>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709759	0.48517	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.77620	-1.11;-1.11	4.6	4.6	0.57074	Filament (1);	0.000000	0.53938	D	0.000059	T	0.61800	0.2376	L	0.31294	0.92	0.19945	N	0.999949	B	0.32717	0.381	B	0.28784	0.094	T	0.56177	-0.8022	10	0.48119	T	0.1	.	6.5747	0.22560	0.0:0.804:0.0:0.196	.	264	Q92764	KRT35_HUMAN	Q	234;264	ENSP00000246639:R234Q;ENSP00000377558:R264Q	ENSP00000246639:R234Q	R	-	2	0	KRT35	36888694	0.004000	0.15560	0.998000	0.56505	0.974000	0.67602	1.539000	0.36104	2.534000	0.85438	0.655000	0.94253	CGA		0.552	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		6	77	0	0	0	1	0	6	77				
ALDH1A1	216	broad.mit.edu	37	9	75520934	75520934	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:75520934C>T	ENST00000297785.3	-	12	1427	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	458					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ACTTACCACGCCATAGCAATT	0.343																																						ENST00000297785.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17						c.(1372-1374)gGc>gAc		aldehyde dehydrogenase 1 family, member A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						60.0	59.0	60.0					9																	75520934		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75520934C>T	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1373G>A	9.37:g.75520934C>T	ENSP00000297785:p.Gly458Asp						p.G458D	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN			12	1427	-			458					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.1373G>A	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	C	1.401	-0.578178	0.03854	.	.	ENSG00000165092	ENST00000297785	T	0.15952	2.38	5.91	4.94	0.65067	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.251773	0.40728	N	0.001027	T	0.13157	0.0319	N	0.19112	0.55	0.80722	D	1	B;B	0.20459	0.045;0.044	B;B	0.29176	0.099;0.077	T	0.08229	-1.0732	10	0.14252	T	0.57	.	15.3781	0.74630	0.1784:0.8215:0.0:0.0	.	379;458	B4DDF8;P00352	.;AL1A1_HUMAN	D	458	ENSP00000297785:G458D	ENSP00000297785:G458D	G	-	2	0	ALDH1A1	74710754	0.993000	0.37304	0.048000	0.18961	0.248000	0.25809	2.818000	0.48041	1.277000	0.44412	0.650000	0.86243	GGC		0.343	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			14	39	0	0	0	1	0	14	39				
CXorf22	170063	broad.mit.edu	37	X	35993797	35993797	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35993797C>A	ENST00000297866.5	+	15	2546	c.2480C>A	c.(2479-2481)aCc>aAc	p.T827N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	827								p.T827N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTCTTTCACCTTTACAGTG	0.383																																						ENST00000297866.5																			1	Substitution - Missense(1)	p.T827N(1)	lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2479-2481)aCc>aAc		chromosome X open reading frame 22							102.0	88.0	93.0					X																	35993797		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35993797C>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2480C>A	X.37:g.35993797C>A	ENSP00000297866:p.Thr827Asn						p.T827N	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			15	2546	+			827					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2480C>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	9.205	1.029382	0.19512	.	.	ENSG00000165164	ENST00000297866	T	0.14640	2.49	5.14	-0.802	0.10889	.	0.327756	0.31847	N	0.006966	T	0.19604	0.0471	M	0.76002	2.32	0.19300	N	0.999971	D	0.56521	0.976	P	0.55455	0.776	T	0.21075	-1.0256	10	0.15952	T	0.53	-2.1102	4.1972	0.10448	0.2243:0.4472:0.2457:0.0827	.	827	Q6ZTR5	CX022_HUMAN	N	827	ENSP00000297866:T827N	ENSP00000297866:T827N	T	+	2	0	CXorf22	35903718	0.089000	0.21612	0.066000	0.19879	0.008000	0.06430	0.190000	0.17057	-0.212000	0.10109	-0.224000	0.12420	ACC		0.383	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		38	57	1	0	1.62957e-23	1	1.76099e-23	38	57				
H2AFV	94239	broad.mit.edu	37	7	44875212	44875212	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:44875212G>T	ENST00000308153.4	-	4	332	c.241C>A	c.(241-243)Cgt>Agt	p.R81S	H2AFV_ENST00000350771.3_Missense_Mutation_p.R55S|H2AFV_ENST00000446531.1_Missense_Mutation_p.R81S|H2AFV_ENST00000349299.3_Missense_Mutation_p.R43S|H2AFV_ENST00000222690.6_Missense_Mutation_p.R81S|H2AFV_ENST00000437072.1_Missense_Mutation_p.R43S|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000521529.1_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	81						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGAGTGATACGCTTTACTTTG	0.448																																						ENST00000222690.6																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(241-243)Cgt>Agt		H2A histone family, member V							118.0	96.0	104.0					7																	44875212		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44875212G>T	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.241C>A	7.37:g.44875212G>T	ENSP00000308405:p.Arg81Ser					H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000446531.1_Missense_Mutation_p.R81S|H2AFV_ENST00000437072.1_Missense_Mutation_p.R43S|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.R55S|H2AFV_ENST00000349299.3_Missense_Mutation_p.R43S|H2AFV_ENST00000308153.4_Missense_Mutation_p.R81S	p.R81S	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN			4	346	-			81					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.241C>A	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165309	0.94768	.	.	ENSG00000105968	ENST00000222690;ENST00000437072;ENST00000349299;ENST00000308153;ENST00000350771;ENST00000446531	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.68	5.68	0.88126	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	D	0.86814	0.6023	H	0.97390	3.995	0.80722	D	1	P;P;B;D	0.54047	0.604;0.822;0.238;0.964	P;P;B;P	0.57720	0.547;0.77;0.146;0.826	D	0.91118	0.4927	9	0.87932	D	0	-13.2415	17.2793	0.87124	0.0:0.0:1.0:0.0	.	55;43;81;81	A6NKY0;A6NFA8;Q71UI9;A6NN01	.;.;H2AV_HUMAN;.	S	81;43;43;81;55;81	ENSP00000222690:R81S;ENSP00000397115:R43S;ENSP00000342714:R43S;ENSP00000308405:R81S;ENSP00000340708:R55S;ENSP00000406901:R81S	ENSP00000222690:R81S	R	-	1	0	H2AFV	44841737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.179000	0.94861	2.698000	0.92095	0.585000	0.79938	CGT		0.448	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		3	73	1	0	1	1	1	3	73				
NGEF	25791	broad.mit.edu	37	2	233757683	233757683	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:233757683G>A	ENST00000264051.3	-	7	1345	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	NGEF_ENST00000373552.4_Missense_Mutation_p.A264V|NGEF_ENST00000539537.1_Missense_Mutation_p.A79V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGTCGGCCGCATAACGGTA	0.562																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1066-1068)gCg>gTg		neuronal guanine nucleotide exchange factor							193.0	157.0	169.0					2																	233757683		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233757683G>A	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1067C>T	2.37:g.233757683G>A	ENSP00000264051:p.Ala356Val					NGEF_ENST00000539537.1_Missense_Mutation_p.A79V|NGEF_ENST00000373552.4_Missense_Mutation_p.A264V	p.A356V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	7	1345	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	356			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1067C>T	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515647	0.85389	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.28	5.28	0.74379	Dbl homology (DH) domain (5);	0.055231	0.64402	D	0.000001	T	0.69351	0.3101	M	0.83012	2.62	0.80722	D	1	P;P	0.40638	0.725;0.6	B;B	0.40375	0.327;0.081	T	0.75929	-0.3144	10	0.66056	D	0.02	-37.9179	17.903	0.88910	0.0:0.0:1.0:0.0	.	264;356	E9PC42;Q8N5V2	.;NGEF_HUMAN	V	356;264;246;79;79;79	ENSP00000264051:A356V;ENSP00000362653:A264V;ENSP00000439035:A79V;ENSP00000401063:A79V;ENSP00000412614:A79V	ENSP00000264051:A356V	A	-	2	0	NGEF	233465927	1.000000	0.71417	0.995000	0.50966	0.347000	0.29111	9.441000	0.97557	2.470000	0.83445	0.561000	0.74099	GCG		0.562	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		4	162	0	0	0	1	0	4	162				
NOL4	8715	broad.mit.edu	37	18	31538334	31538334	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr18:31538334C>T	ENST00000261592.5	-	7	1402	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	NOL4_ENST00000589544.1_Missense_Mutation_p.V369I|NOL4_ENST00000538587.1_Missense_Mutation_p.V295I|NOL4_ENST00000269185.4_Missense_Mutation_p.V255I|NOL4_ENST00000535384.1_Missense_Mutation_p.V84I|NOL4_ENST00000535475.1_Missense_Mutation_p.V214I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	369						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCTCGGTCTACACTCTCATTT	0.448																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1105-1107)Gta>Ata		nucleolar protein 4							230.0	204.0	213.0					18																	31538334		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538334C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1105G>A	18.37:g.31538334C>T	ENSP00000261592:p.Val369Ile					NOL4_ENST00000589544.1_Missense_Mutation_p.V369I|NOL4_ENST00000535384.1_Missense_Mutation_p.V84I|NOL4_ENST00000535475.1_Missense_Mutation_p.V214I|NOL4_ENST00000269185.4_Missense_Mutation_p.V255I|NOL4_ENST00000538587.1_Missense_Mutation_p.V295I	p.V369I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			7	1402	-			369					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1105G>A	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	5.662	0.306718	0.10733	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92	5.64	3.86	0.44501	.	0.413247	0.22387	N	0.060739	T	0.80597	0.4653	L	0.34521	1.04	0.26462	N	0.975437	P;B;B;B;B;B;B;B	0.44044	0.825;0.228;0.001;0.073;0.034;0.001;0.0;0.167	P;B;B;B;B;B;B;B	0.46026	0.501;0.085;0.005;0.079;0.053;0.005;0.001;0.079	T	0.71906	-0.4451	10	0.51188	T	0.08	-2.261	9.9792	0.41802	0.0:0.784:0.0:0.216	.	255;118;84;295;369;84;369;214	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	I	369;255;118;84;214;295	ENSP00000261592:V369I;ENSP00000269185:V255I;ENSP00000445733:V84I;ENSP00000438190:V214I;ENSP00000443472:V295I	ENSP00000261592:V369I	V	-	1	0	NOL4	29792332	0.994000	0.37717	0.613000	0.29037	0.081000	0.17604	1.922000	0.40045	0.728000	0.32382	0.557000	0.71058	GTA		0.448	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		54	127	0	0	0	1	0	54	127				
DPP7	29952	broad.mit.edu	37	9	140006206	140006206	+	Splice_Site	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:140006206T>C	ENST00000371579.2	-	11	1212	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	403						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGCTCTGAGATCTGCAAGGGG	0.652																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.e11-1		dipeptidyl-peptidase 7							52.0	56.0	55.0					9																	140006206		2203	4300	6503	SO:0001630	splice_region_variant	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140006206T>C	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1208-1A>G	9.37:g.140006206T>C							p.D403_splice	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	11	1212	-	all_cancers(76;0.0926)		403					A8K7U7|Q5VSF1|Q969X4	Splice_Site	SNP	ENST00000371579.2	37	c.1207_splice	CCDS7030.1	.	.	.	.	.	.	.	.	.	.	T	9.386	1.074278	0.20227	.	.	ENSG00000176978	ENST00000371579	D	0.92299	-3.01	4.1	4.1	0.47936	.	0.209202	0.38326	U	0.001737	D	0.89812	0.6823	M	0.74647	2.275	0.44728	D	0.997729	B	0.21905	0.062	B	0.22880	0.042	D	0.85227	0.1030	10	0.17369	T	0.5	.	11.0015	0.47609	0.0:0.0:0.0:1.0	.	403	Q9UHL4	DPP2_HUMAN	G	403	ENSP00000360635:D403G	ENSP00000360635:D403G	D	-	2	0	DPP7	139126027	1.000000	0.71417	0.984000	0.44739	0.367000	0.29736	2.499000	0.45372	1.731000	0.51592	0.449000	0.29647	GAT		0.652	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379	Missense_Mutation	3	82	0	0	0	1	0	3	82				
DDX5	1655	broad.mit.edu	37	17	62498337	62498337	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:62498337G>A	ENST00000225792.5	-	10	1500	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.P367S|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.P288S|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	367	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCATGGCAGGCCACCTAAGT	0.398			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1099-1101)Cct>Tct		DEAD (Asp-Glu-Ala-Asp) box helicase 5							45.0	44.0	44.0					17																	62498337		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62498337G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1099C>T	17.37:g.62498337G>A	ENSP00000225792:p.Pro367Ser					DDX5_ENST00000450599.2_Missense_Mutation_p.P288S|DDX5_ENST00000578804.1_Missense_Mutation_p.P367S	p.P367S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		10	1500	-	Breast(5;2.15e-14)		367			Helicase C-terminal.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.1099C>T	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330469	0.60743	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	6.17	6.17	0.99709	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	L	0.33137	0.985	0.80722	D	1	B;P;P	0.38565	0.236;0.637;0.637	B;B;B	0.43251	0.374;0.295;0.413	T	0.53358	-0.8450	9	0.45353	T	0.12	-11.1563	20.8794	0.99867	0.0:0.0:1.0:0.0	.	288;367;367	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	367;297;356	.	ENSP00000225792:P356S	P	-	1	0	DDX5	59928799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.292000	0.96076	2.941000	0.99782	0.655000	0.94253	CCT		0.398	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		3	33	0	0	0	1	0	3	33				
CCIN	881	broad.mit.edu	37	9	36170121	36170121	+	Missense_Mutation	SNP	C	C	T	rs569235631	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:36170121C>T	ENST00000335119.2	+	1	733	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	208	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGTGTACTTCCGGAAGGAGGA	0.488													C|||	36	0.0071885	0.0	0.0	5008	,	,		23339	0.002		0.0	False		,,,				2504	0.0348					ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(622-624)Cgg>Tgg		calicin							61.0	59.0	60.0					9																	36170121		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170121C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.622C>T	9.37:g.36170121C>T	ENSP00000334996:p.Arg208Trp						p.R208W	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	733	+			208			BACK.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.622C>T	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522260	0.44866	.	.	ENSG00000185972	ENST00000335119	T	0.69306	-0.39	5.55	3.47	0.39725	BTB/Kelch-associated (2);	0.329487	0.21674	N	0.070837	T	0.65333	0.2681	N	0.24115	0.695	0.32381	N	0.554537	D	0.64830	0.994	P	0.57720	0.826	T	0.73464	-0.3974	10	0.87932	D	0	.	11.8134	0.52195	0.324:0.676:0.0:0.0	.	208	Q13939	CALI_HUMAN	W	208	ENSP00000334996:R208W	ENSP00000334996:R208W	R	+	1	2	CCIN	36160121	0.969000	0.33509	1.000000	0.80357	0.925000	0.55904	0.157000	0.16402	1.314000	0.45095	0.563000	0.77884	CGG		0.488	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		17	32	0	0	0	1	0	17	32				
FLNC	2318	broad.mit.edu	37	7	128480693	128480693	+	Silent	SNP	G	G	A	rs202142168	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128480693G>A	ENST00000325888.8	+	10	1902	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	FLNC_ENST00000346177.6_Silent_p.V547V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	547					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTATGTGGTGACCATCACGT	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1639-1641)gtG>gtA		filamin C, gamma							171.0	193.0	185.0					7																	128480693		2151	4243	6394	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480693G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1641G>A	7.37:g.128480693G>A						FLNC_ENST00000346177.6_Silent_p.V547V	p.V547V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			10	1902	+			547					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1641G>A	CCDS43644.1																																																																																				0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	472	0	0	0	1	0	6	472				
PNMAL2	57469	broad.mit.edu	37	19	46998156	46998156	+	Silent	SNP	G	G	A			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:46998156G>A	ENST00000377655.2	-	1	566	c.567C>T	c.(565-567)ccC>ccT	p.P189P	AC011484.1_ENST00000377652.3_Silent_p.A89A|PNMAL2_ENST00000599531.1_Silent_p.P189P|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	189										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACTCCTCGCGGGAGCAGACG	0.647																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(565-567)ccC>ccT		paraneoplastic Ma antigen family-like 2							54.0	54.0	54.0					19																	46998156		2203	4300	6503	SO:0001819	synonymous_variant	57469							g.chr19:46998156G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.567C>T	19.37:g.46998156G>A						AC011484.1_ENST00000377652.3_Silent_p.A89A|PNMAL2_ENST00000377655.2_Silent_p.P189P|PNMAL2_ENST00000594749.1_Intron	p.P189P	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1599	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	189					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37	c.567C>T																																																																																					0.647	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		3	39	0	0	0	1	0	3	39				
FNBP4	23360	broad.mit.edu	37	11	47755624	47755624	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47755624T>C	ENST00000263773.5	-	10	1651	c.1639A>G	c.(1639-1641)Aat>Gat	p.N547D	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	547						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GATTGTCTATTAATGCCTAGA	0.328																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1639-1641)Aat>Gat		formin binding protein 4							123.0	118.0	119.0					11																	47755624		1841	4094	5935	SO:0001583	missense	23360							g.chr11:47755624T>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1639A>G	11.37:g.47755624T>C	ENSP00000263773:p.Asn547Asp					FNBP4_ENST00000534003.1_5'UTR	p.N547D	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			10	1651	-			547					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1639A>G	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300784	0.60195	.	.	ENSG00000109920	ENST00000263773	T	0.10860	2.83	6.02	6.02	0.97574	.	0.163418	0.64402	D	0.000003	T	0.07908	0.0198	N	0.12182	0.205	0.51767	D	0.999934	B	0.16166	0.016	B	0.15052	0.012	T	0.35574	-0.9783	10	0.29301	T	0.29	-18.7305	16.542	0.84395	0.0:0.0:0.0:1.0	.	547	Q8N3X1	FNBP4_HUMAN	D	547	ENSP00000263773:N547D	ENSP00000263773:N547D	N	-	1	0	FNBP4	47712200	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	6.015000	0.70791	2.304000	0.77564	0.528000	0.53228	AAT		0.328	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			21	38	0	0	0	1	0	21	38				
SETMAR	6419	broad.mit.edu	37	3	4358185	4358185	+	Missense_Mutation	SNP	A	A	G	rs573824448		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:4358185A>G	ENST00000358065.4	+	3	1377	c.1310A>G	c.(1309-1311)aAt>aGt	p.N437S	SETMAR_ENST00000425863.1_Missense_Mutation_p.N298S|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	437	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		gaagaactcaatgtcaaccat	0.448								Chromatin Structure					A|||	1	0.000199681	0.0	0.0	5008	,	,		9030	0.0		0.0	False		,,,				2504	0.001					ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1309-1311)aAt>aGt	Chromatin Structure	SET domain and mariner transposase fusion gene							16.0	18.0	17.0					3																	4358185		2202	4300	6502	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4358185A>G	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1310A>G	3.37:g.4358185A>G	ENSP00000373354:p.Asn437Ser					SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.N298S	p.N437S	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	3	1377	+		Melanoma(143;0.0657)	424			Mariner transposase Hsmar1.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.1310A>G	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	A	4.130	0.022324	0.08006	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.31510	1.49;1.49;1.49	0.235	0.235	0.15431	Transposase, Tc1-like (1);	0.423880	0.16690	U	0.203584	T	0.32645	0.0836	L	0.45285	1.41	0.09310	N	1	B;P;P;B	0.38767	0.053;0.623;0.646;0.344	B;B;P;B	0.49752	0.129;0.401;0.621;0.134	T	0.17471	-1.0368	9	0.48119	T	0.1	.	.	.	.	.	181;298;424;182	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	S	437;298;201	ENSP00000373354:N437S;ENSP00000403145:N298S;ENSP00000369673:N201S	ENSP00000373354:N437S	N	+	2	0	SETMAR	4333185	0.121000	0.22262	0.150000	0.22450	0.152000	0.21847	0.349000	0.20055	0.263000	0.21812	0.260000	0.18958	AAT		0.448	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		6	13	0	0	0	1	0	6	13				
CCDC70	83446	broad.mit.edu	37	13	52439604	52439604	+	Silent	SNP	G	G	A	rs112168960	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:52439604G>A	ENST00000242819.4	+	2	386	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507																																						ENST00000242819.4																			1	Substitution - coding silent(1)	p.A30A(1)	lung(1)	breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(88-90)gcG>gcA		coiled-coil domain containing 70							66.0	67.0	67.0					13																	52439604		2203	4300	6503	SO:0001819	synonymous_variant	83446					extracellular region|plasma membrane		g.chr13:52439604G>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.90G>A	13.37:g.52439604G>A							p.A30A	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	386	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	30					Q8N7A8|Q9H097	Silent	SNP	ENST00000242819.4	37	c.90G>A	CCDS9431.1																																																																																				0.507	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		14	126	0	0	0	1	0	14	126				
CLMN	79789	broad.mit.edu	37	14	95670323	95670323	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:95670323C>T	ENST00000298912.4	-	9	1476	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	455					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCAATGATTCCTTTGCCACT	0.468																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1363-1365)Gaa>Aaa		calmin (calponin-like, transmembrane)							77.0	73.0	74.0					14																	95670323		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670323C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1363G>A	14.37:g.95670323C>T	ENSP00000298912:p.Glu455Lys						p.E455K	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1476	-			455					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1363G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017783	0.54576	.	.	ENSG00000165959	ENST00000298912	D	0.94828	-3.53	5.63	4.72	0.59763	.	1.140950	0.06667	N	0.765409	D	0.93096	0.7802	L	0.58101	1.795	0.36334	D	0.859035	P	0.46395	0.877	B	0.40741	0.339	D	0.88348	0.2979	10	0.56958	D	0.05	.	9.7332	0.40374	0.0:0.9012:0.0:0.0988	.	455	Q96JQ2	CLMN_HUMAN	K	455	ENSP00000298912:E455K	ENSP00000298912:E455K	E	-	1	0	CLMN	94740076	0.491000	0.26019	0.062000	0.19696	0.002000	0.02628	2.168000	0.42424	1.316000	0.45131	0.655000	0.94253	GAA		0.468	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			14	37	0	0	0	1	0	14	37				
SLMO2	51012	broad.mit.edu	37	20	57613539	57613539	+	Silent	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr20:57613539C>T	ENST00000355937.4	-	2	361	c.183G>A	c.(181-183)ctG>ctA	p.L61L	SLMO2_ENST00000371033.5_Silent_p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	61	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CAATGGAAGGCAGTCCCCACT	0.443																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(181-183)ctG>ctA		slowmo homolog 2 (Drosophila)							89.0	86.0	87.0					20																	57613539		1899	4125	6024	SO:0001819	synonymous_variant	51012							g.chr20:57613539C>T	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.183G>A	20.37:g.57613539C>T						SLMO2_ENST00000371033.5_Silent_p.L61L	p.L61L	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	361	-	all_lung(29;0.00711)		61			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Silent	SNP	ENST00000355937.4	37	c.183G>A	CCDS42893.1																																																																																				0.443	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		5	105	0	0	0	1	0	5	105				
CDKN3	1033	broad.mit.edu	37	14	54884631	54884631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:54884631C>T	ENST00000335183.6	+	7	628	c.514C>T	c.(514-516)Cga>Tga	p.R172*	CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000556102.2_Nonsense_Mutation_p.R172*|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000442975.2_Nonsense_Mutation_p.R132*|CDKN3_ENST00000458126.2_Nonsense_Mutation_p.R171*|CDKN3_ENST00000395577.2_Nonsense_Mutation_p.R126*	NM_005192.3	NP_005183.2	Q00526	CDK3_HUMAN	cyclin-dependent kinase inhibitor 3	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|stomach(1)	3						AGACAGCCTGCGAGACCTAAG	0.458																																					Pancreas(40;634 1012 9382 49950 52462)	ENST00000556102.2																			0				breast(2)|stomach(1)	3						c.(514-516)Cga>Tga		cyclin-dependent kinase inhibitor 3							91.0	64.0	73.0					14																	54884631		2202	4300	6502	SO:0001587	stop_gained	1033				cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr14:54884631C>T	U02681	CCDS9716.1, CCDS45109.1	14q22	2011-08-25	2008-08-01		ENSG00000100526	ENSG00000100526		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1791	protein-coding gene	gene with protein product	"""kinase associated phosphatase"", ""cyclin-dependent kinase inhibitor"", ""CDK2-associated dual specificity phosphatase"""	123832				8242750, 7698009	Standard	NM_005192		Approved	KAP, CDI1	uc001xap.3	Q16667	OTTHUMG00000140302	ENST00000335183.6:c.514C>T	14.37:g.54884631C>T	ENSP00000335357:p.Arg172*					CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000458126.2_Nonsense_Mutation_p.R171*|CDKN3_ENST00000335183.6_Nonsense_Mutation_p.R172*|CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000395577.2_Nonsense_Mutation_p.R126*|CDKN3_ENST00000442975.2_Nonsense_Mutation_p.R132*	p.R172*			Q16667	CDKN3_HUMAN			7	580	+			172						Nonsense_Mutation	SNP	ENST00000335183.6	37	c.514C>T	CCDS9716.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130527	0.37630	.	.	ENSG00000100526	ENST00000335183;ENST00000442975;ENST00000458126;ENST00000556102;ENST00000439312;ENST00000395577	.	.	.	6.17	1.72	0.24424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4228	15.8016	0.78456	0.6734:0.3266:0.0:0.0	.	.	.	.	X	172;132;171;172;167;126	.	ENSP00000216414:R71X	R	+	1	2	CDKN3	53954381	0.995000	0.38212	0.966000	0.40874	0.378000	0.30076	0.382000	0.20635	0.309000	0.22966	-0.169000	0.13324	CGA		0.458	CDKN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276893.2			9	15	0	0	0	1	0	9	15				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			4	215	0	0	0	1	0	4	215				
LINC01122	400955	broad.mit.edu	37	2	58655794	58655796	+	lincRNA	DEL	TGC	TGC	-	rs368476892|rs10589511	byFrequency	TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:58655794_58655796delTGC	ENST00000452840.1	+	0	127																											TCTGTTCGTTtgctgctgctgct	0.7														3040	0.607029	0.7617	0.6311	5008	,	,		4487	0.5476		0.4185	False		,,,				2504	0.636					ENST00000452840.1																			0																																																			0							g.chr2:58655794_58655796delTGC																													2.37:g.58655803_58655805delTGC														0	127	+									RNA	DEL	ENST00000452840.1	37																																																																																						0.700	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			3	3						3	3	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-	rs201697815		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTGATTAGACCAACCCTTCCCAT	0.537																																						ENST00000603901.1																			0																																																			0							g.chr7:142481923_142481925delCAA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481923_142481925delCAA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	269						8	269	---	---	---	---
TSNARE1	203062	broad.mit.edu	37	8	143310866	143310868	+	In_Frame_Del	DEL	GAT	GAT	-	rs142964918|rs577569567		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr8:143310866_143310868delGAT	ENST00000307180.3	-	13	1636_1638	c.1519_1521delATC	c.(1519-1521)atcdel	p.I507del	TSNARE1_ENST00000524325.1_In_Frame_Del_p.I506del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	507	Poly-Ile.				intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGTGGCGATGATGATGATG	0.512																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1516-1518)del		t-SNARE domain containing 1																																				SO:0001651	inframe_deletion	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310866_143310868delGAT			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1519_1521delATC	8.37:g.143310875_143310877delGAT	ENSP00000303437:p.Ile507del					TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del	p.I506del			Q96NA8	TSNA1_HUMAN			13	1691_1693	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		507			Poly-Ile.		B7ZLB0|Q14D03	In_Frame_Del	DEL	ENST00000307180.3	37	c.1516_1518delATC	CCDS6384.1																																																																																				0.512	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		7	134						7	134	---	---	---	---
LINC00621	100996930	broad.mit.edu	37	13	23471558	23471558	+	lincRNA	DEL	G	G	-			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:23471558delG	ENST00000577004.1	-	0	652									long intergenic non-protein coding RNA 621																		CGGAGGCTGTGGGGGCCCGGG	0.617																																						ENST00000577004.1																			0																																																			0							g.chr13:23471558delG	AK091626		13q12.12	2012-10-12			ENSG00000262619	ENSG00000262619		"""Long non-coding RNAs"""	44227	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000177835		13.37:g.23471558delG														0	652	-									RNA	DEL	ENST00000577004.1	37																																																																																						0.617	LINC00621-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439167.1			2	4						2	4	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		2	4						2	4	---	---	---	---
