#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
PLXNA4	91584	broad.mit.edu	37	7	131844259	131844259	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:131844259G>A	ENST00000359827.3	-	25	5595	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W			Q9HCM2	PLXA4_HUMAN	plexin A4	1545					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTGGGCCGGTGGGAGCAA	0.557																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4633-4635)Cgg>Tgg		plexin A4							198.0	213.0	208.0					7																	131844259		2198	4300	6498	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131844259G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4633C>T	7.37:g.131844259G>A	ENSP00000352882:p.Arg1545Trp					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W	p.R1545W			Q9HCM2	PLXA4_HUMAN			25	5595	-			1545					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4633C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067782	0.76301	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15017	2.46;2.46	5.22	0.482	0.16815	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23476	-1.0187	10	0.39692	T	0.17	.	15.9453	0.79789	0.0:0.0:0.5428:0.4572	.	1545	Q9HCM2	PLXA4_HUMAN	W	1545	ENSP00000323194:R1545W;ENSP00000352882:R1545W	ENSP00000323194:R1545W	R	-	1	2	PLXNA4	131494799	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.019000	0.41001	0.155000	0.19261	0.655000	0.94253	CGG		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		4	200	0	0	0	1	0	4	200				
MGA	23269	broad.mit.edu	37	15	41961691	41961691	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:41961691A>C	ENST00000570161.1	+	1	599	c.599A>C	c.(598-600)tAc>tCc	p.Y200S	MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Missense_Mutation_p.Y200S|MGA_ENST00000219905.7_Missense_Mutation_p.Y200S|MGA_ENST00000545763.1_Missense_Mutation_p.Y200S|MGA_ENST00000389936.4_Missense_Mutation_p.Y200S			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGCATCGTTACCTGCCGAGG	0.438																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(598-600)tAc>tCc		MGA, MAX dimerization protein							143.0	141.0	142.0					15																	41961691		1982	4162	6144	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961691A>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.599A>C	15.37:g.41961691A>C	ENSP00000457035:p.Tyr200Ser					MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.Y200S|MGA_ENST00000389936.4_Missense_Mutation_p.Y200S|MGA_ENST00000566586.1_Missense_Mutation_p.Y200S|MGA_ENST00000545763.1_Missense_Mutation_p.Y200S	p.Y200S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	780	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	200					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.599A>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986970	0.74589	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.96104	-3.91;-3.91;-3.91	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99663	1.0994	10	0.87932	D	0	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	200;200	F5H7K2;E7ENI0	.;.	S	200	ENSP00000219905:Y200S;ENSP00000374586:Y200S;ENSP00000442467:Y200S	ENSP00000219905:Y200S	Y	+	2	0	MGA	39748983	1.000000	0.71417	0.693000	0.30195	0.958000	0.62258	9.339000	0.96797	2.270000	0.75569	0.460000	0.39030	TAC		0.438	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	70	0	0	0	1	0	5	70				
CIC	23152	broad.mit.edu	37	19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:42791715C>T	ENST00000575354.2	+	5	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000572681.2_Missense_Mutation_p.R1110W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R201W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3328-3330)Cgg>Tgg		capicua transcriptional repressor							65.0	70.0	68.0					19																	42791715		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791715C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.601C>T	19.37:g.42791715C>T	ENSP00000458663:p.Arg201Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W	p.R1110W			Q96RK0	CIC_HUMAN			6	3396	+		Prostate(69;0.00682)	201			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3328C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960036	0.53400	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.85133	0.5627	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88918	0.3364	8	0.87932	D	0	-12.0024	14.5138	0.67807	0.0:1.0:0.0:0.0	.	201	Q96RK0	CIC_HUMAN	W	201	.	ENSP00000160740:R201W	R	+	1	2	CIC	47483555	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.466000	0.53071	2.284000	0.76573	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			17	8	0	0	0	1	0	17	8				
SEC16A	9919	broad.mit.edu	37	9	139370473	139370473	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr9:139370473C>G	ENST00000371706.3	-	1	1094	c.1061G>C	c.(1060-1062)aGg>aCg	p.R354T	SEC16A_ENST00000431893.2_Missense_Mutation_p.R354T|SEC16A_ENST00000290037.6_Missense_Mutation_p.R354T|SEC16A_ENST00000313050.7_Missense_Mutation_p.R532T			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	354					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCTGAGAGCCTTCCGTGGCT	0.547																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1594-1596)aGg>aCg		SEC16 homolog A (S. cerevisiae)							34.0	37.0	36.0					9																	139370473		2045	4197	6242	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139370473C>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1061G>C	9.37:g.139370473C>G	ENSP00000360771:p.Arg354Thr					SEC16A_ENST00000290037.6_Missense_Mutation_p.R354T|SEC16A_ENST00000431893.2_Missense_Mutation_p.R354T|SEC16A_ENST00000371706.3_Missense_Mutation_p.R354T	p.R532T	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1668	-		Myeloproliferative disorder(178;0.0511)	354					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1595G>C		.	.	.	.	.	.	.	.	.	.	C	6.751	0.507485	0.12883	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.12	-0.474	0.12108	.	0.441099	0.27076	N	0.021060	T	0.11239	0.0274	N	0.22421	0.69	0.36086	D	0.843116	B;B;B;B	0.15719	0.008;0.014;0.014;0.0	B;B;B;B	0.09377	0.002;0.004;0.004;0.001	T	0.08452	-1.0721	10	0.51188	T	0.08	-0.0249	5.9358	0.19165	0.1274:0.4278:0.3708:0.074	.	532;354;354;159	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	T	532;354;354;354;159	ENSP00000325827:R532T;ENSP00000360771:R354T;ENSP00000290037:R354T;ENSP00000387583:R354T	ENSP00000290037:R354T	R	-	2	0	SEC16A	138490294	0.749000	0.28305	0.000000	0.03702	0.018000	0.09664	1.626000	0.37039	-0.291000	0.09012	0.655000	0.94253	AGG		0.547	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		16	17	0	0	0	1	0	16	17				
MAGEB6	158809	broad.mit.edu	37	X	26212765	26212765	+	Silent	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:26212765C>T	ENST00000379034.1	+	2	951	c.802C>T	c.(802-804)Cta>Tta	p.L268L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	268	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGTCAGCAAGCTAGGCCTCCC	0.522																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(802-804)Cta>Tta		melanoma antigen family B, 6							99.0	85.0	89.0					X																	26212765		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212765C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.802C>T	X.37:g.26212765C>T							p.L268L	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	951	+			268			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.802C>T	CCDS14217.1																																																																																				0.522	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		57	65	0	0	0	1	0	57	65				
KIAA0100	9703	broad.mit.edu	37	17	26951259	26951259	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:26951259T>C	ENST00000528896.2	-	25	4818	c.4744A>G	c.(4744-4746)Aac>Gac	p.N1582D	KIAA0100_ENST00000544884.1_Missense_Mutation_p.N1439D|KIAA0100_ENST00000389003.3_Missense_Mutation_p.N1439D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1582						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACCTGACAGTTGACCAATTCA	0.448																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(4744-4746)Aac>Gac		KIAA0100							178.0	146.0	157.0					17																	26951259		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26951259T>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4744A>G	17.37:g.26951259T>C	ENSP00000436773:p.Asn1582Asp					KIAA0100_ENST00000544884.1_Missense_Mutation_p.N1439D|KIAA0100_ENST00000389003.3_Missense_Mutation_p.N1439D	p.N1582D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			25	4818	-	Lung NSC(42;0.00431)		1582					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.4744A>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805993	0.90623	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.67171	-0.25;-0.13	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.79490	-0.1782	10	0.41790	T	0.15	.	16.0314	0.80579	0.0:0.0:0.0:1.0	.	1582	Q14667	K0100_HUMAN	D	1582;1552;1582;1439	ENSP00000436773:N1582D;ENSP00000446443:N1439D	ENSP00000005905:N1582D	N	-	1	0	KIAA0100	23975386	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.607000	0.82883	2.193000	0.70182	0.402000	0.26972	AAC		0.448	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		14	98	0	0	0	1	0	14	98				
ELK1	2002	broad.mit.edu	37	X	47497377	47497377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:47497377G>A	ENST00000247161.3	-	4	958	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ELK1_ENST00000592066.1_Missense_Mutation_p.P233S|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.P287S	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	287					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						ACAACCGCGGGCAGCCGGGCT	0.667																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(859-861)Ccc>Tcc		ELK1, member of ETS oncogene family							8.0	10.0	9.0					X																	47497377		2125	4170	6295	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47497377G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.859C>T	X.37:g.47497377G>A	ENSP00000247161:p.Pro287Ser					ELK1_ENST00000376983.3_Missense_Mutation_p.P287S|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P233S	p.P287S	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			4	958	-			287					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.859C>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	g	6.098	0.386322	0.11524	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.24538	1.85;1.85	4.54	2.39	0.29439	.	1.021140	0.07749	N	0.948275	T	0.13415	0.0325	N	0.12182	0.205	0.46954	D	0.999261	B	0.02656	0.0	B	0.04013	0.001	T	0.15206	-1.0445	10	0.21014	T	0.42	.	5.3396	0.15976	0.1189:0.3773:0.5038:0.0	.	287	P19419	ELK1_HUMAN	S	287	ENSP00000247161:P287S;ENSP00000366182:P287S	ENSP00000247161:P287S	P	-	1	0	ELK1	47382321	0.845000	0.29573	0.763000	0.31416	0.102000	0.19082	0.466000	0.22019	0.419000	0.25927	0.597000	0.82753	CCC		0.667	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		8	7	0	0	0	1	0	8	7				
DNAJC8	22826	broad.mit.edu	37	1	28527866	28527866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:28527866G>A	ENST00000263697.4	-	9	681	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	DNAJC8_ENST00000489277.1_5'UTR|AL353354.1_ENST00000321830.5_5'Flank	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	219					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCCACACGACCATCTCGA	0.488																																						ENST00000263697.4																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(655-657)Cgt>Tgt		DnaJ (Hsp40) homolog, subfamily C, member 8							162.0	160.0	160.0					1																	28527866		1938	4135	6073	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28527866G>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.655C>T	1.37:g.28527866G>A	ENSP00000263697:p.Arg219Cys					DNAJC8_ENST00000489277.1_5'UTR	p.R219C	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	9	681	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	219					B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.655C>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.665304	0.88251	.	.	ENSG00000126698	ENST00000263697	T	0.80033	-1.33	5.21	5.21	0.72293	.	0.048294	0.85682	D	0.000000	D	0.91573	0.7338	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93069	0.6481	10	0.87932	D	0	-5.188	18.7579	0.91839	0.0:0.0:1.0:0.0	.	219	O75937	DNJC8_HUMAN	C	219	ENSP00000263697:R219C	ENSP00000263697:R219C	R	-	1	0	DNAJC8	28400453	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.471000	0.97696	2.428000	0.82296	0.544000	0.68410	CGT		0.488	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		4	77	0	0	0	1	0	4	77				
HELZ2	85441	broad.mit.edu	37	20	62196762	62196762	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr20:62196762G>A	ENST00000467148.1	-	8	3482	c.3413C>T	c.(3412-3414)aCc>aTc	p.T1138I	HELZ2_ENST00000427522.2_Missense_Mutation_p.T569I	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1138					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCGCTCGAAGGTCTCTGGCAC	0.701																																						ENST00000467148.1																			0											c.(3412-3414)aCc>aTc		helicase with zinc finger 2, transcriptional coactivator							13.0	14.0	13.0					20																	62196762		2170	4272	6442	SO:0001583	missense	85441							g.chr20:62196762G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3413C>T	20.37:g.62196762G>A	ENSP00000417401:p.Thr1138Ile					HELZ2_ENST00000427522.2_Missense_Mutation_p.T569I	p.T1138I	NM_001037335.2	NP_001032412.2					8	3482	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3413C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	9.168	1.020499	0.19433	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.21543	2.0;2.0	4.81	3.86	0.44501	.	0.434509	0.22340	N	0.061348	T	0.17619	0.0423	L	0.57536	1.79	0.21915	N	0.999478	B;B	0.26547	0.152;0.134	B;B	0.20384	0.013;0.029	T	0.24333	-1.0163	10	0.49607	T	0.09	-37.8302	3.4577	0.07522	0.0867:0.1514:0.5005:0.2614	.	1138;569	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	I	569;1138	ENSP00000393257:T569I;ENSP00000417401:T1138I	ENSP00000393257:T569I	T	-	2	0	RP4-697K14.7	61667206	0.036000	0.19791	0.483000	0.27378	0.030000	0.12068	0.213000	0.17521	1.030000	0.39839	0.491000	0.48974	ACC		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		11	12	0	0	0	1	0	11	12				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	38	0	0	0	1	0	4	38				
SMARCC2	6601	broad.mit.edu	37	12	56566784	56566784	+	Intron	SNP	A	A	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:56566784A>C	ENST00000267064.4	-	18	1737				SMARCC2_ENST00000347471.4_Silent_p.A560A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.A560A|SMARCC2_ENST00000394023.3_Silent_p.A560A	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTTTCGCCCAGCCTTGGTAT	0.622																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1678-1680)gcT>gcG		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							76.0	64.0	68.0					12																	56566784		2203	4300	6503	SO:0001627	intron_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56566784A>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1651-296T>G	12.37:g.56566784A>C						SMARCC2_ENST00000347471.4_Silent_p.A560A|SMARCC2_ENST00000550164.1_Silent_p.A560A|SMARCC2_ENST00000267064.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA	p.A560A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		18	1785	-			550					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1680T>G	CCDS8907.1																																																																																				0.622	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			13	20	0	0	0	1	0	13	20				
EZH1	2145	broad.mit.edu	37	17	40870506	40870506	+	Silent	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:40870506G>A	ENST00000428826.2	-	9	1018	c.897C>T	c.(895-897)tgC>tgT	p.C299C	EZH1_ENST00000592743.1_Silent_p.C299C|EZH1_ENST00000590078.1_Silent_p.C229C|EZH1_ENST00000585893.1_Silent_p.C259C|EZH1_ENST00000435174.1_Silent_p.C160C|EZH1_ENST00000415827.2_Silent_p.C290C			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	299					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		AGCAGCGCCGGCAAAAAAGTG	0.537																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(895-897)tgC>tgT		enhancer of zeste homolog 1 (Drosophila)							88.0	82.0	84.0					17																	40870506		2203	4300	6503	SO:0001819	synonymous_variant	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870506G>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.897C>T	17.37:g.40870506G>A						EZH1_ENST00000435174.1_Silent_p.C160C|EZH1_ENST00000415827.2_Silent_p.C290C|EZH1_ENST00000592743.1_Silent_p.C299C|EZH1_ENST00000590078.1_Silent_p.C229C|EZH1_ENST00000585893.1_Silent_p.C259C	p.C299C			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	1018	-		Breast(137;0.00104)	299					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	c.897C>T	CCDS32659.1																																																																																				0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		3	40	0	0	0	1	0	3	40				
PSG3	5671	broad.mit.edu	37	19	43237188	43237188	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:43237188T>C	ENST00000327495.5	-	3	641	c.457A>G	c.(457-459)Agc>Ggc	p.S153G	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.S153G	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	153	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AAGTTGCTGCTGGAGATGGAG	0.517																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(457-459)Agc>Ggc		pregnancy specific beta-1-glycoprotein 3							166.0	167.0	166.0					19																	43237188		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43237188T>C		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.457A>G	19.37:g.43237188T>C	ENSP00000332215:p.Ser153Gly					PSG3_ENST00000595140.1_Missense_Mutation_p.S153G	p.S153G	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	641	-		Prostate(69;0.00682)	153			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.457A>G	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	10.64	1.408401	0.25378	.	.	ENSG00000221826	ENST00000327495	T	0.12879	2.64	1.59	0.427	0.16489	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19248	0.0462	M	0.74881	2.28	0.09310	N	1	B;B	0.31730	0.337;0.011	B;B	0.41036	0.346;0.05	T	0.33548	-0.9864	9	0.49607	T	0.09	.	3.6056	0.08041	0.3449:0.0:0.0:0.6551	.	131;153	Q08266;Q16557	.;PSG3_HUMAN	G	153	ENSP00000332215:S153G	ENSP00000332215:S153G	S	-	1	0	PSG3	47929028	0.006000	0.16342	0.008000	0.14137	0.006000	0.05464	-0.421000	0.07053	-0.099000	0.12263	0.324000	0.21423	AGC		0.517	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		96	26	0	0	0	1	0	96	26				
MAMDC4	158056	broad.mit.edu	37	9	139749232	139749232	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr9:139749232T>A	ENST00000317446.2	+	9	1003	c.953T>A	c.(952-954)gTg>gAg	p.V318E	MAMDC4_ENST00000485732.1_Intron|MAMDC4_ENST00000445819.1_Missense_Mutation_p.V318E	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGTCTCCGTGGCCGAGCCT	0.692																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(952-954)gTg>gAg		MAM domain containing 4							54.0	59.0	57.0					9																	139749232		2201	4298	6499	SO:0001583	missense	158056				protein transport	integral to membrane		g.chr9:139749232T>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.953T>A	9.37:g.139749232T>A	ENSP00000319388:p.Val318Glu					MAMDC4_ENST00000485732.1_Intron|MAMDC4_ENST00000317446.2_Missense_Mutation_p.V318E	p.V318E			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	9	1003	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	318			MAM 2.			Missense_Mutation	SNP	ENST00000317446.2	37	c.953T>A	CCDS7010.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.679273	0.29783	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.01685	4.69;4.69	4.61	-1.16	0.09678	.	1.780890	0.03120	N	0.163571	T	0.01870	0.0059	L	0.50333	1.59	0.20926	N	0.999824	B	0.32829	0.386	B	0.33521	0.165	T	0.46789	-0.9166	10	0.02654	T	1	-2.2298	3.2164	0.06700	0.3226:0.197:0.0:0.4804	.	318	Q6UXC1-2	.	E	318	ENSP00000319388:V318E;ENSP00000411339:V318E	ENSP00000319388:V318E	V	+	2	0	MAMDC4	138869053	0.000000	0.05858	0.073000	0.20177	0.045000	0.14185	-1.322000	0.02695	0.145000	0.18977	0.459000	0.35465	GTG		0.692	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920		3	58	0	0	0	1	0	3	58				
PPP1R3A	5506	broad.mit.edu	37	7	113558761	113558761	+	Silent	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:113558761G>A	ENST00000284601.3	-	1	359	c.291C>T	c.(289-291)gaC>gaT	p.D97D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	97					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGTGGAAAATGTCCGTCCCTA	0.383																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(289-291)gaC>gaT		protein phosphatase 1, regulatory subunit 3A							102.0	97.0	99.0					7																	113558761		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558761G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.291C>T	7.37:g.113558761G>A							p.D97D	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	359	-			97					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.291C>T	CCDS5759.1																																																																																				0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		36	48	0	0	0	1	0	36	48				
SPDYE4	388333	broad.mit.edu	37	17	8659725	8659725	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:8659725A>C	ENST00000328794.6	-	3	546	c.370T>G	c.(370-372)Tgg>Ggg	p.W124G		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	124										breast(1)|endometrium(2)|kidney(1)	4						TCTTTGTCCCAGGCCAGGAAT	0.537																																						ENST00000328794.6																			0				breast(1)|endometrium(2)|kidney(1)	4						c.(370-372)Tgg>Ggg		speedy/RINGO cell cycle regulator family member E4							134.0	120.0	125.0					17																	8659725		692	1591	2283	SO:0001583	missense	388333							g.chr17:8659725A>C	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.370T>G	17.37:g.8659725A>C	ENSP00000329522:p.Trp124Gly						p.W124G	NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN			3	546	-			124					B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	c.370T>G	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	A	5.673	0.308816	0.10733	.	.	ENSG00000183318	ENST00000328794	.	.	.	3.46	2.32	0.28847	.	0.213000	0.27896	N	0.017413	T	0.54822	0.1882	M	0.78223	2.4	0.31672	N	0.644192	D	0.53462	0.96	P	0.53649	0.731	T	0.60219	-0.7306	9	0.44086	T	0.13	.	5.8279	0.18564	0.7636:0.0:0.0:0.2364	.	124	A6NLX3	SPDE4_HUMAN	G	124	.	ENSP00000329522:W124G	W	-	1	0	SPDYE4	8600450	1.000000	0.71417	0.998000	0.56505	0.759000	0.43091	1.323000	0.33701	0.477000	0.27464	0.260000	0.18958	TGG		0.537	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		20	166	0	0	0	1	0	20	166				
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	C	T	rs61730792	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:10419889C>T	ENST00000226207.5	-	3	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	24					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R24Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507																																						ENST00000226207.5																			1	Substitution - Missense(1)	p.R24Q(1)	NS(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(70-72)cGa>cAa		myosin, heavy chain 1, skeletal muscle, adult		C	GLN/ARG	0,4406		0,0,2203	125.0	115.0	118.0		71	5.5	1.0	17	dbSNP_129	118	8,8592	6.4+/-24.3	0,8,4292	no	missense	MYH1	NM_005963.3	43	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	probably-damaging	24/1940	10419889	8,12998	2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419889C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.71G>A	17.37:g.10419889C>T	ENSP00000226207:p.Arg24Gln					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R24Q	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			3	165	-			24			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.71G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318343	0.95682	0.0	9.3E-4	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.85629	-2.01	5.5	5.5	0.81552	.	0.000000	0.36628	U	0.002489	D	0.85729	0.5764	M	0.77406	2.37	0.54753	D	0.999989	B	0.29301	0.241	B	0.21546	0.035	T	0.83269	-0.0044	10	0.41790	T	0.15	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	24	P12882	MYH1_HUMAN	Q	24	ENSP00000226207:R24Q	ENSP00000226207:R24Q	R	-	2	0	MYH1	10360614	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.635000	0.83286	2.861000	0.98227	0.655000	0.94253	CGA		0.507	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		59	54	0	0	0	1	0	59	54				
SLFN12	55106	broad.mit.edu	37	17	33750022	33750022	+	Missense_Mutation	SNP	G	G	A	rs143225670		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:33750022G>A	ENST00000394562.1	-	4	549	c.26C>T	c.(25-27)aCg>aTg	p.T9M	SLFN12_ENST00000304905.5_Missense_Mutation_p.T9M|SLFN12_ENST00000452764.3_Missense_Mutation_p.T9M|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	9							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCATAATTCGTTTCCAAATC	0.388																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(25-27)aCg>aTg		schlafen family member 12		G	MET/THR	2,4404	2.1+/-5.4	0,2,2201	126.0	123.0	124.0		26	1.7	0.0	17	dbSNP_134	124	0,8600		0,0,4300	no	missense	SLFN12	NM_018042.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	9/579	33750022	2,13004	2203	4300	6503	SO:0001583	missense	55106						ATP binding	g.chr17:33750022G>A	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.26C>T	17.37:g.33750022G>A	ENSP00000378063:p.Thr9Met					SLFN12_ENST00000304905.5_Missense_Mutation_p.T9M|SLFN12_ENST00000452764.3_Missense_Mutation_p.T9M	p.T9M			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	549	-		Ovarian(249;0.17)	9					A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	c.26C>T	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320907	0.23994	4.54E-4	0.0	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040;ENST00000445092;ENST00000428476	T;T;T;T;T	0.32988	3.77;3.77;3.77;1.87;1.43	2.81	1.74	0.24563	.	.	.	.	.	T	0.35189	0.0923	L	0.39085	1.19	0.09310	N	1	D	0.76494	0.999	P	0.58928	0.848	T	0.10800	-1.0614	9	0.45353	T	0.12	.	6.5602	0.22481	0.0:0.0:0.7131:0.2869	.	9	Q8IYM2	SLN12_HUMAN	M	9	ENSP00000378063:T9M;ENSP00000302077:T9M;ENSP00000394903:T9M;ENSP00000398315:T9M;ENSP00000404175:T9M	ENSP00000302077:T9M	T	-	2	0	SLFN12	30774135	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.306000	0.19279	0.427000	0.26145	0.436000	0.28706	ACG		0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		56	76	0	0	0	1	0	56	76				
CPO	130749	broad.mit.edu	37	2	207825632	207825632	+	Silent	SNP	G	G	A	rs539355992		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:207825632G>A	ENST00000272852.3	+	6	586	c.540G>A	c.(538-540)acG>acA	p.T180T		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	180						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTTTTGGGACGGATCTCAATC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		21299	0.0		0.0	False		,,,				2504	0.001					ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(538-540)acG>acA		carboxypeptidase O							230.0	206.0	214.0					2																	207825632		2203	4300	6503	SO:0001819	synonymous_variant	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207825632G>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.540G>A	2.37:g.207825632G>A							p.T180T	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	6	586	+			180					Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	c.540G>A	CCDS2372.1																																																																																				0.388	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		4	150	0	0	0	1	0	4	150				
CRX	1406	broad.mit.edu	37	19	48342774	48342774	+	Silent	SNP	A	A	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:48342774A>T	ENST00000221996.7	+	4	656	c.450A>T	c.(448-450)tcA>tcT	p.S150S	CRX_ENST00000539067.1_Silent_p.S150S|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	150					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCGGCCCCTCAGGCTCCCCAA	0.667																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(448-450)tcA>tcT		cone-rod homeobox							40.0	43.0	42.0					19																	48342774		2203	4298	6501	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342774A>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.450A>T	19.37:g.48342774A>T						TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.S150S	p.S150S	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	656	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	150					Q0QD45	Silent	SNP	ENST00000221996.7	37	c.450A>T	CCDS12706.1																																																																																				0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		3	37	0	0	0	1	0	3	37				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	13	0	0	0	1	0	3	13				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	84	0	0	0	1	0	8	84				
ZFYVE26	23503	broad.mit.edu	37	14	68273386	68273386	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr14:68273386G>A	ENST00000347230.4	-	6	1031	c.893C>T	c.(892-894)cCg>cTg	p.P298L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P298L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	298					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TAGATGATCCGGTGAGACTGA	0.478																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(892-894)cCg>cTg		zinc finger, FYVE domain containing 26							70.0	68.0	69.0					14																	68273386		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68273386G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.893C>T	14.37:g.68273386G>A	ENSP00000251119:p.Pro298Leu					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P298L	p.P298L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	6	1031	-			298					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.893C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506459	0.26949	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26660	1.86;1.72	5.83	0.716	0.18191	.	0.711966	0.13840	N	0.359133	T	0.17109	0.0411	L	0.36672	1.1	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.06405	0.002;0.002;0.001	T	0.20174	-1.0283	10	0.42905	T	0.14	-0.5852	5.3203	0.15878	0.2848:0.0:0.5872:0.128	.	298;298;298	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	L	298;277;298	ENSP00000251119:P298L;ENSP00000450603:P298L	ENSP00000251119:P298L	P	-	2	0	ZFYVE26	67343139	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.012000	0.13287	-0.130000	0.11599	-0.812000	0.03155	CCG		0.478	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		13	3	0	0	0	1	0	13	3				
APBA2	321	broad.mit.edu	37	15	29346469	29346469	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:29346469C>G	ENST00000558402.1	+	5	981	c.382C>G	c.(382-384)Cct>Gct	p.P128A	APBA2_ENST00000558330.1_Missense_Mutation_p.P128A|APBA2_ENST00000558259.1_Missense_Mutation_p.P128A|APBA2_ENST00000561069.1_Missense_Mutation_p.P128A|APBA2_ENST00000411764.1_Missense_Mutation_p.P128A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	128					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CAGTGCACACCCTGTGGACAC	0.657																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(382-384)Cct>Gct		amyloid beta (A4) precursor protein-binding, family A, member 2							98.0	82.0	88.0					15																	29346469		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346469C>G	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.382C>G	15.37:g.29346469C>G	ENSP00000453293:p.Pro128Ala					APBA2_ENST00000411764.1_Missense_Mutation_p.P128A|APBA2_ENST00000561069.1_Missense_Mutation_p.P128A|APBA2_ENST00000558330.1_Missense_Mutation_p.P128A|APBA2_ENST00000558259.1_Missense_Mutation_p.P128A	p.P128A			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	981	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	128					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.382C>G	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	6.124	0.391086	0.11581	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.41400	1.0	4.94	3.94	0.45596	.	0.525210	0.19689	N	0.108330	T	0.32133	0.0819	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17852	0.024;0.011;0.011	B;B;B	0.15484	0.013;0.008;0.005	T	0.18587	-1.0332	10	0.39692	T	0.17	.	14.2186	0.65809	0.1812:0.8188:0.0:0.0	.	128;128;128	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	A	128	ENSP00000409312:P128A	ENSP00000219865:P128A	P	+	1	0	APBA2	27133761	0.001000	0.12720	0.017000	0.16124	0.273000	0.26683	1.079000	0.30766	2.250000	0.74265	0.557000	0.71058	CCT		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		30	38	0	0	0	1	0	30	38				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	35	0	0	0	1	0	4	35				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			31	43	0	0	0	1	0	31	43				
ELK1	2002	broad.mit.edu	37	X	47497378	47497378	+	Silent	SNP	C	C	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:47497378C>G	ENST00000247161.3	-	4	957	c.858G>C	c.(856-858)ctG>ctC	p.L286L	ELK1_ENST00000592066.1_Silent_p.L232L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.L286L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	286					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAACCGCGGGCAGCCGGGCTG	0.672																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(856-858)ctG>ctC		ELK1, member of ETS oncogene family							9.0	10.0	10.0					X																	47497378		2127	4170	6297	SO:0001819	synonymous_variant	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47497378C>G	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.858G>C	X.37:g.47497378C>G						ELK1_ENST00000376983.3_Silent_p.L286L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Silent_p.L232L	p.L286L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			4	957	-			286					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	ENST00000247161.3	37	c.858G>C	CCDS14283.1																																																																																				0.672	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		8	8	0	0	0	1	0	8	8				
OR4B1	119765	broad.mit.edu	37	11	48239206	48239206	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr11:48239206C>T	ENST00000309562.2	+	1	863	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGCTGAACCCCATCATTTAC	0.458																																						ENST00000309562.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(844-846)cCc>cTc		olfactory receptor, family 4, subfamily B, member 1							91.0	80.0	84.0					11																	48239206		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48239206C>T	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.845C>T	11.37:g.48239206C>T	ENSP00000311605:p.Pro282Leu						p.P282L	NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN			1	863	+			282					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.845C>T	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328997	0.60743	.	.	ENSG00000175619	ENST00000309562	T	0.63417	-0.04	5.54	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	D	0.82852	0.5127	H	0.97611	4.04	0.47441	D	0.999425	P	0.51147	0.942	P	0.56563	0.801	D	0.87741	0.2585	10	0.87932	D	0	.	12.1222	0.53897	0.0:0.9166:0.0:0.0834	.	282	Q8NGF8	OR4B1_HUMAN	L	282	ENSP00000311605:P282L	ENSP00000311605:P282L	P	+	2	0	OR4B1	48195782	0.975000	0.34042	1.000000	0.80357	0.497000	0.33675	3.808000	0.55598	1.342000	0.45619	0.508000	0.49915	CCC		0.458	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		26	46	0	0	0	1	0	26	46				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231829	29231829	+	lincRNA	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr6:29231829G>A	ENST00000441381.1	+	0	300																											AGGAGCATAAGCCAACCAAAG	0.363																																						ENST00000441381.1																			0																				60.0	56.0	57.0					6																	29231829		1826	4077	5903			0							g.chr6:29231829G>A																													6.37:g.29231829G>A														0	300	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.363	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			4	65	0	0	0	1	0	4	65				
IGHE	3497	broad.mit.edu	37	14	106066370	106066370	+	lincRNA	SNP	T	T	C	rs1134593		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr14:106066370T>C	ENST00000390540.2	-	0	1154				IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA|AL928742.12_ENST00000412518.1_lincRNA																							CACAGCTGGATGGAGCCCTGG	0.602																																						ENST00000412518.1																			0																				71.0	70.0	70.0					14																	106066370		2089	4196	6285			0							g.chr14:106066370T>C																													14.37:g.106066370T>C						IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA								0	6	-									RNA	SNP	ENST00000390540.2	37																																																																																						0.602	RP11-731F5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380286.1			5	83	0	0	0	1	0	5	83				
RSPO2	340419	broad.mit.edu	37	8	109001439	109001439	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr8:109001439C>T	ENST00000276659.5	-	3	748	c.128G>A	c.(127-129)tGt>tAt	p.C43Y	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	43					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ACAAGACAAACAACCCTTGCA	0.383																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(127-129)tGt>tAt		R-spondin 2							95.0	82.0	86.0					8																	109001439		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001439C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.128G>A	8.37:g.109001439C>T	ENSP00000276659:p.Cys43Tyr					RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	p.C43Y	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	748	-			43					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.128G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295695	0.81025	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D	0.99797	-6.79;-2.01;-6.79;-2.01	4.93	4.93	0.64822	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	H	0.95294	3.65	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96563	0.9417	10	0.87932	D	0	-7.4699	18.5137	0.90928	0.0:1.0:0.0:0.0	.	43	Q6UXX9	RSPO2_HUMAN	Y	43;43;15;43	ENSP00000276659:C43Y;ENSP00000430010:C43Y;ENSP00000429159:C15Y;ENSP00000430973:C43Y	ENSP00000276659:C43Y	C	-	2	0	RSPO2	109070615	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.323000	0.79105	2.451000	0.82905	0.563000	0.77884	TGT		0.383	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		14	21	0	0	0	1	0	14	21				
B4GALNT2	124872	broad.mit.edu	37	17	47246206	47246206	+	Missense_Mutation	SNP	C	C	T	rs372897714		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:47246206C>T	ENST00000300404.2	+	10	1498	c.1439C>T	c.(1438-1440)aCg>aTg	p.T480M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T420M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T394M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	480					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CTGGCCCACACGGAGCGACTC	0.597																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1438-1440)aCg>aTg		beta-1,4-N-acetyl-galactosaminyl transferase 2		C	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	67.0	50.0	56.0		1259,1181,1439	5.6	0.9	17		56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	420/507,394/481,480/567	47246206	1,13005	2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47246206C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1439C>T	17.37:g.47246206C>T	ENSP00000300404:p.Thr480Met					B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T394M|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T420M	p.T480M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		10	1498	+			480					B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.1439C>T	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745593	0.89663	0.0	1.16E-4	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.26223	1.75;1.75;1.75	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.56485	0.1988	M	0.83384	2.64	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.77004	0.943;0.989	T	0.60969	-0.7157	10	0.66056	D	0.02	-7.3139	18.2491	0.89997	0.0:1.0:0.0:0.0	.	420;480	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	M	394;420;480	ENSP00000425510:T394M;ENSP00000377022:T420M;ENSP00000300404:T480M	ENSP00000300404:T480M	T	+	2	0	B4GALNT2	44601205	1.000000	0.71417	0.925000	0.36789	0.908000	0.53690	6.935000	0.75886	2.600000	0.87896	0.561000	0.74099	ACG		0.597	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		10	11	0	0	0	1	0	10	11				
TLR2	7097	broad.mit.edu	37	4	154624181	154624181	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:154624181G>T	ENST00000260010.6	+	1	1530	c.122G>T	c.(121-123)gGa>gTa	p.G41V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	41					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GGCAGCTCAGGATCTTTAAAC	0.502																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(121-123)gGa>gTa		toll-like receptor 2							85.0	78.0	80.0					4																	154624181		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624181G>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.122G>T	4.37:g.154624181G>T	ENSP00000260010:p.Gly41Val						p.G41V	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	1530	+	all_hematologic(180;0.093)	Renal(120;0.117)	41					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.122G>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993177	0.19043	.	.	ENSG00000137462	ENST00000260010	T	0.25912	1.77	6.03	3.19	0.36642	.	0.669254	0.15491	N	0.259579	T	0.11707	0.0285	N	0.08118	0	0.37878	D	0.930298	B	0.21753	0.06	B	0.17098	0.017	T	0.10474	-1.0628	10	0.59425	D	0.04	.	4.622	0.12460	0.2276:0.0:0.5461:0.2263	.	41	O60603	TLR2_HUMAN	V	41	ENSP00000260010:G41V	ENSP00000260010:G41V	G	+	2	0	TLR2	154843631	0.301000	0.24444	0.487000	0.27428	0.093000	0.18481	0.622000	0.24433	1.556000	0.49512	0.655000	0.94253	GGA		0.502	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			26	44	1	0	2.44723e-14	1	2.69195e-14	26	44				
FRMPD3	84443	broad.mit.edu	37	X	106840784	106840784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:106840784C>T	ENST00000276185.4	+	15	1774	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	592						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GACCAGGCCCCGAACCAAGTC	0.527																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(1774-1776)Cga>Tga		FERM and PDZ domain containing 3							145.0	136.0	139.0					X																	106840784		876	1991	2867	SO:0001587	stop_gained	84443					cytoskeleton		g.chrX:106840784C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1774C>T	X.37:g.106840784C>T	ENSP00000276185:p.Arg592*						p.R592*			Q5JV73	FRPD3_HUMAN			15	1774	+			592					Q96JK8	Nonsense_Mutation	SNP	ENST00000276185.4	37	c.1774C>T		.	.	.	.	.	.	.	.	.	.	C	37	5.983721	0.97173	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	.	.	.	5.08	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.4386	0.44450	0.5667:0.4333:0.0:0.0	.	.	.	.	X	592;540	.	ENSP00000276185:R592X	R	+	1	2	FRMPD3	106727440	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.138000	0.42140	1.108000	0.41662	0.436000	0.28706	CGA		0.527	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		6	92	0	0	0	1	0	6	92				
OR2M5	127059	broad.mit.edu	37	1	248309019	248309019	+	Silent	SNP	T	T	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:248309019T>C	ENST00000366476.1	+	1	570	c.570T>C	c.(568-570)aaT>aaC	p.N190N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTCATGCAATGACACATCAA	0.413																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(568-570)aaT>aaC		olfactory receptor, family 2, subfamily M, member 5							284.0	273.0	277.0					1																	248309019		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309019T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.570T>C	1.37:g.248309019T>C							p.N190N	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	570	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		190						Silent	SNP	ENST00000366476.1	37	c.570T>C	CCDS31105.1																																																																																				0.413	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		12	300	0	0	0	1	0	12	300				
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			26	28	0	0	0	1	0	26	28				
TBC1D15	64786	broad.mit.edu	37	12	72316850	72316850	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:72316850G>T	ENST00000550746.1	+	18	2006	c.1942G>T	c.(1942-1944)Gtt>Ttt	p.V648F	TBC1D15_ENST00000485960.2_Missense_Mutation_p.V631F|TBC1D15_ENST00000393309.3_Missense_Mutation_p.V402F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.V639F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	648					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGAAAATGTTGTCATGAC	0.458																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1942-1944)Gtt>Ttt		TBC1 domain family, member 15							297.0	256.0	270.0					12																	72316850		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72316850G>T	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1942G>T	12.37:g.72316850G>T	ENSP00000448182:p.Val648Phe					TBC1D15_ENST00000393309.3_Missense_Mutation_p.V402F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.V639F|TBC1D15_ENST00000485960.2_Missense_Mutation_p.V631F	p.V648F	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			18	2006	+			648					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1942G>T	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	0.873	-0.731360	0.03135	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.10192	3.24;3.22;3.22;2.9	5.33	0.261	0.15592	.	1.547260	0.03469	N	0.213353	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	P;P;B	0.41265	0.744;0.73;0.087	B;B;B	0.37304	0.125;0.246;0.033	T	0.13229	-1.0517	10	0.30078	T	0.28	-8.2521	1.8432	0.03154	0.2763:0.1186:0.4695:0.1356	.	639;631;648	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	F	648;639;631;402	ENSP00000448182:V648F;ENSP00000318262:V639F;ENSP00000420678:V631F;ENSP00000376986:V402F	ENSP00000318262:V639F	V	+	1	0	TBC1D15	70603117	0.101000	0.21875	0.039000	0.18376	0.030000	0.12068	0.951000	0.29135	-0.255000	0.09486	-0.274000	0.10170	GTT		0.458	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		33	52	1	0	5.60225e-13	1	5.96368e-13	33	52				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	64	1	0	2.56e-06	1	2.6819e-06	4	64				
UQCC1	55245	broad.mit.edu	37	20	33981930	33981930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr20:33981930C>T	ENST00000374385.5	-	2	271	c.94G>A	c.(94-96)Gga>Aga	p.G32R	UQCC1_ENST00000397554.1_Missense_Mutation_p.G32R|UQCC1_ENST00000374384.2_Missense_Mutation_p.G32R|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000407996.2_Missense_Mutation_p.G32R|UQCC1_ENST00000349714.5_Missense_Mutation_p.G32R|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Missense_Mutation_p.R12K|UQCC1_ENST00000542501.1_Missense_Mutation_p.G32R|UQCC1_ENST00000359226.2_Missense_Mutation_p.G32R|UQCC1_ENST00000374380.2_Missense_Mutation_p.G32R|UQCC1_ENST00000397556.3_5'UTR	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	32						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TCCCCCTGTCCTTGGGTAGGA	0.423																																						ENST00000397554.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17						c.(94-96)Gga>Aga									127.0	120.0	122.0					20																	33981930		2203	4300	6503	SO:0001583	missense	0					cytoplasmic membrane-bounded vesicle		g.chr20:33981930C>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.94G>A	20.37:g.33981930C>T	ENSP00000363506:p.Gly32Arg					UQCC_ENST00000374377.5_Missense_Mutation_p.R12K|UQCC_ENST00000374380.2_Missense_Mutation_p.G32R|UQCC_ENST00000374384.2_Missense_Mutation_p.G32R|UQCC_ENST00000359226.2_Missense_Mutation_p.G32R|UQCC_ENST00000349714.5_Missense_Mutation_p.G32R|UQCC_ENST00000542501.1_Missense_Mutation_p.G32R|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000407996.2_Missense_Mutation_p.G32R|UQCC_ENST00000374385.5_Missense_Mutation_p.G32R|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000397556.3_5'UTR	p.G32R			Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	104	-			32					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.94G>A	CCDS13252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.318|4.318	0.058364|0.058364	0.08339|0.08339	.|.	.|.	ENSG00000101019|ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000407996;ENST00000424405;ENST00000542501;ENST00000438533;ENST00000397554|ENST00000374377	T;T;T;T;T;T;T;T;T;T|.	0.67698|.	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28|.	5.04|5.04	0.748|0.748	0.18376|0.18376	.|.	0.675258|.	0.14256|.	N|.	0.331127|.	T|T	0.34395|0.34395	0.0896|0.0896	L|L	0.39397|0.39397	1.21|1.21	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.06786|.	0.0;0.0;0.0;0.0;0.001|.	B;B;B;B;B|.	0.06405|.	0.0;0.001;0.002;0.001;0.002|.	T|T	0.27571|0.27571	-1.0070|-1.0070	10|6	0.24483|0.31617	T|T	0.36|0.26	-0.6186|-0.6186	6.8217|6.8217	0.23861|0.23861	0.0:0.5721:0.0:0.4279|0.0:0.5721:0.0:0.4279	.|.	32;32;32;32;32|.	B1AKV5;B7Z7J8;B7ZBG3;B7ZBG4;Q9NVA1|.	.;.;.;.;UQCC_HUMAN|.	R|K	32|12	ENSP00000335364:G32R;ENSP00000352161:G32R;ENSP00000363505:G32R;ENSP00000363501:G32R;ENSP00000363506:G32R;ENSP00000386064:G32R;ENSP00000399713:G32R;ENSP00000445059:G32R;ENSP00000398531:G32R;ENSP00000380686:G32R|.	ENSP00000335364:G32R|ENSP00000363497:R12K	G|R	-|-	1|2	0|0	UQCC|UQCC	33445344|33445344	0.331000|0.331000	0.24713|0.24713	0.008000|0.008000	0.14137|0.14137	0.103000|0.103000	0.19146|0.19146	0.148000|0.148000	0.16224|0.16224	0.269000|0.269000	0.21961|0.21961	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.423	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		34	51	0	0	0	1	0	34	51				
KSR2	283455	broad.mit.edu	37	12	118199020	118199020	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:118199020G>A	ENST00000339824.5	-	4	1509	c.782C>T	c.(781-783)cCg>cTg	p.P261L	KSR2_ENST00000425217.1_Missense_Mutation_p.P232L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	261	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCGCGGCGGGGTGCGGAC	0.751																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(694-696)cCg>cTg		kinase suppressor of ras 2							41.0	53.0	49.0					12																	118199020		1836	4055	5891	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199020G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.782C>T	12.37:g.118199020G>A	ENSP00000339952:p.Pro261Leu					KSR2_ENST00000339824.5_Missense_Mutation_p.P261L	p.P232L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	749	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		261			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.695C>T		.	.	.	.	.	.	.	.	.	.	G	16.10	3.028433	0.54790	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.53423	0.62;0.62	4.48	4.48	0.54585	.	0.266108	0.37178	N	0.002216	T	0.38241	0.1033	L	0.40543	1.245	0.58432	D	0.999994	D	0.54772	0.968	B	0.37144	0.242	T	0.48714	-0.9011	10	0.59425	D	0.04	.	16.9212	0.86165	0.0:0.0:1.0:0.0	.	261	Q6VAB6	KSR2_HUMAN	L	232;261	ENSP00000389715:P232L;ENSP00000339952:P261L	ENSP00000339952:P261L	P	-	2	0	KSR2	116683403	1.000000	0.71417	0.973000	0.42090	0.652000	0.38707	9.053000	0.93860	2.299000	0.77371	0.484000	0.47621	CCG		0.751	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		6	116	0	0	0	1	0	6	116				
SUCLA2	8803	broad.mit.edu	37	13	48528668	48528668	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr13:48528668T>A	ENST00000378654.3	-	7	883	c.827A>T	c.(826-828)aAt>aTt	p.N276I	SUCLA2_ENST00000544100.1_Missense_Mutation_p.N142I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.N218I|SUCLA2_ENST00000543413.1_Missense_Mutation_p.N218I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	276	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	AGAGTCAAAATTGATCTTTGC	0.358																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(826-828)aAt>aTt		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						62.0	64.0	63.0					13																	48528668		2203	4298	6501	SO:0001583	missense	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48528668T>A	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.827A>T	13.37:g.48528668T>A	ENSP00000367923:p.Asn276Ile					SUCLA2_ENST00000544100.1_Missense_Mutation_p.N142I|SUCLA2_ENST00000543413.1_Missense_Mutation_p.N218I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.N218I	p.N276I	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	7	883	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	276			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Missense_Mutation	SNP	ENST00000378654.3	37	c.827A>T	CCDS9406.1	.	.	.	.	.	.	.	.	.	.	t	17.90	3.501716	0.64298	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000331052;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484;ENST00000433022	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.67	5.67	0.87782	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.62913	0.2467	L	0.48986	1.54	0.80722	D	1	B	0.27700	0.186	B	0.26202	0.067	T	0.63629	-0.6594	10	0.66056	D	0.02	-22.0697	15.3807	0.74654	0.0:0.0:0.0:1.0	.	276	Q9P2R7	SUCB1_HUMAN	I	276;254;206;128;142;218;218;104;206;128	ENSP00000367923:N276I;ENSP00000443412:N142I;ENSP00000438182:N218I;ENSP00000441056:N218I;ENSP00000392771:N206I;ENSP00000415091:N128I	ENSP00000367898:N128I	N	-	2	0	SUCLA2	47426669	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.640000	0.83355	2.285000	0.76669	0.528000	0.53228	AAT		0.358	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			27	32	0	0	0	1	0	27	32				
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A	rs201864661		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)Ccg>Acg		golgin A6 family, member C																																				SO:0001583	missense	653641							g.chr15:75562493C>A		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2035C>A	15.37:g.75562493C>A	ENSP00000300576:p.Pro679Thr						p.P679T	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2035	+			679						Missense_Mutation	SNP	ENST00000300576.5	37	c.2035C>A	CCDS58388.1	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.235243	0.00277	.	.	ENSG00000167195	ENST00000300576	T	0.12465	2.68	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.00012	-2.95	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.34179	-0.9839	8	0.02654	T	1	.	4.0506	0.09793	0.6453:0.3546:1.0E-4:0.0	.	679	A6NDK9	GOG6C_HUMAN	T	679	ENSP00000300576:P679T	ENSP00000300576:P679T	P	+	1	0	GOLGA6C	73349546	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	3.804000	0.55568	-1.404000	0.02050	-1.477000	0.00996	CCG		0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	108	1	0	0.00198382	1	0.00198382	6	108				
TRMT10A	93587	broad.mit.edu	37	4	100479223	100479223	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:100479223G>A	ENST00000273962.3	-	3	643	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	TRMT10A_ENST00000394877.3_Missense_Mutation_p.H111Y|TRMT10A_ENST00000394876.2_Missense_Mutation_p.H111Y	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	111	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										ACCATCAAGTGATCAAAACTA	0.338																																						ENST00000273962.3																			0											c.(331-333)Cac>Tac		tRNA methyltransferase 10 homolog A (S. cerevisiae)							164.0	135.0	145.0					4																	100479223		2203	4300	6503	SO:0001583	missense	93587							g.chr4:100479223G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.331C>T	4.37:g.100479223G>A	ENSP00000273962:p.His111Tyr					TRMT10A_ENST00000394876.2_Missense_Mutation_p.H111Y|TRMT10A_ENST00000394877.3_Missense_Mutation_p.H111Y	p.H111Y	NM_152292.4	NP_689505.1					3	643	-								B2R8X7|Q9Y2T9	Missense_Mutation	SNP	ENST00000273962.3	37	c.331C>T	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899668	0.33535	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.78	-2.35	0.06684	.	0.514981	0.25422	N	0.030782	T	0.15912	0.0383	L	0.52011	1.625	0.09310	N	1	B	0.22604	0.072	B	0.23574	0.047	T	0.21143	-1.0254	10	0.72032	D	0.01	0.1159	6.7116	0.23280	0.0:0.3162:0.2153:0.4685	.	111	Q8TBZ6	RG9D2_HUMAN	Y	111	ENSP00000378343:H111Y;ENSP00000273962:H111Y;ENSP00000378342:H111Y;ENSP00000397551:H111Y;ENSP00000423628:H111Y	ENSP00000273962:H111Y	H	-	1	0	RG9MTD2	100698246	0.998000	0.40836	0.581000	0.28614	0.931000	0.56810	0.430000	0.21428	-0.123000	0.11745	-0.197000	0.12766	CAC		0.338	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		27	20	0	0	0	1	0	27	20				
MAP3K12	7786	broad.mit.edu	37	12	53876605	53876605	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:53876605C>T	ENST00000267079.2	-	12	2108	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	MAP3K12_ENST00000547488.1_Missense_Mutation_p.G661E|MAP3K12_ENST00000547035.1_Missense_Mutation_p.G661E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	628			G -> R (in dbSNP:rs34366500). {ECO:0000269|PubMed:17344846}.		histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ATCCCCAGCTCCGCCTGTGGC	0.677																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(1882-1884)gGa>gAa		mitogen-activated protein kinase kinase kinase 12							23.0	30.0	27.0					12																	53876605		2194	4292	6486	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876605C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1883G>A	12.37:g.53876605C>T	ENSP00000267079:p.Gly628Glu					MAP3K12_ENST00000547035.1_Missense_Mutation_p.G661E|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G661E	p.G628E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2108	-			628		G -> R (in dbSNP:rs34366500).			B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1883G>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	9.178	1.022783	0.19433	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.74632	-0.86;-0.86;-0.86	3.77	0.821	0.18799	.	0.176067	0.27535	N	0.018930	T	0.41534	0.1163	N	0.08118	0	0.31378	N	0.679384	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28744	-1.0034	10	0.06099	T	0.92	.	2.0822	0.03637	0.1527:0.4847:0.1729:0.1897	.	661;628	G3V1Y2;Q12852	.;M3K12_HUMAN	E	628;661;661	ENSP00000267079:G628E;ENSP00000449038:G661E;ENSP00000448689:G661E	ENSP00000267079:G628E	G	-	2	0	MAP3K12	52162872	0.366000	0.25014	0.999000	0.59377	0.784000	0.44337	0.257000	0.18369	0.169000	0.19679	0.491000	0.48974	GGA		0.677	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		32	26	0	0	0	1	0	32	26				
OR2M7	391196	broad.mit.edu	37	1	248487301	248487301	+	Silent	SNP	A	A	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:248487301A>G	ENST00000317965.2	-	1	598	c.570T>C	c.(568-570)aaT>aaC	p.N190N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGATGTGTCATTGCATGAGA	0.423																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(568-570)aaT>aaC		olfactory receptor, family 2, subfamily M, member 7							220.0	217.0	218.0					1																	248487301		2203	4298	6501	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487301A>G	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.570T>C	1.37:g.248487301A>G							p.N190N	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	598	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		190					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.570T>C	CCDS31111.1																																																																																				0.423	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		144	189	0	0	0	1	0	144	189				
OR7E91P	79315	broad.mit.edu	37	2	71256879	71256879	+	RNA	SNP	G	G	A	rs569638590	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:71256879G>A	ENST00000434990.1	-	0	61																											GTGTGGTGGCGTCAGTGACGT	0.547													-|||	2	0.000399361	0.0008	0.0	5008	,	,		19631	0.0		0.001	False		,,,				2504	0.0					ENST00000434990.1																			0																																																			0							g.chr2:71256879G>A																													2.37:g.71256879G>A														0	61	-									RNA	SNP	ENST00000434990.1	37																																																																																						0.547	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			6	8	0	0	0	1	0	6	8				
CCL3	6348	broad.mit.edu	37	17	34416559	34416559	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:34416559G>A	ENST00000225245.5	-	2	240	c.158C>T	c.(157-159)aCg>aTg	p.T53M	AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	53					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTGCTCGTCTCAAAGTA	0.572																																						ENST00000225245.5																			0				breast(2)|lung(3)|urinary_tract(1)	6						c.(157-159)aCg>aTg		chemokine (C-C motif) ligand 3							157.0	157.0	157.0					17																	34416559		2203	4297	6500	SO:0001583	missense	6348				cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity	g.chr17:34416559G>A	M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.158C>T	17.37:g.34416559G>A	ENSP00000225245:p.Thr53Met					AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA	p.T53M	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	240	-		Ovarian(249;0.17)	53						Missense_Mutation	SNP	ENST00000225245.5	37	c.158C>T	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	18.37	3.609853	0.66558	.	.	ENSG00000006075	ENST00000225245	T	0.05717	3.4	5.4	5.4	0.78164	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.066976	0.56097	D	0.000025	T	0.25082	0.0609	.	.	.	0.38666	D	0.952182	D	0.89917	1.0	D	0.91635	0.999	T	0.00489	-1.1709	9	0.87932	D	0	.	14.6133	0.68531	0.0:0.0:1.0:0.0	.	53	P10147	CCL3_HUMAN	M	53	ENSP00000225245:T53M	ENSP00000225245:T53M	T	-	2	0	CCL3	31440672	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	5.393000	0.66279	2.827000	0.97445	0.644000	0.83932	ACG		0.572	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1	NM_002983		51	49	0	0	0	1	0	51	49				
CD109	135228	broad.mit.edu	37	6	74524749	74524749	+	Nonsense_Mutation	SNP	C	C	T	rs200340875	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr6:74524749C>T	ENST00000287097.5	+	30	3926	c.3814C>T	c.(3814-3816)Cga>Tga	p.R1272*	CD109_ENST00000422508.2_Nonsense_Mutation_p.R1195*|CD109_ENST00000437994.2_Nonsense_Mutation_p.R1255*			Q6YHK3	CD109_HUMAN	CD109 molecule	1272					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCTAGAAGACGAAGATCTAT	0.313													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14935	0.0		0.0	False		,,,				2504	0.0					ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3763-3765)Cga>Tga		CD109 molecule							95.0	99.0	98.0					6																	74524749		2203	4298	6501	SO:0001587	stop_gained	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74524749C>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3814C>T	6.37:g.74524749C>T	ENSP00000287097:p.Arg1272*					CD109_ENST00000287097.5_Nonsense_Mutation_p.R1272*|CD109_ENST00000422508.2_Nonsense_Mutation_p.R1195*	p.R1255*	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			30	4194	+			1272					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Nonsense_Mutation	SNP	ENST00000287097.5	37	c.3763C>T	CCDS4982.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	40	8.105608	0.98657	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	5.45	1.38	0.22167	.	0.648939	0.14754	N	0.300414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9044	0.35515	0.5095:0.4234:0.0:0.067	.	.	.	.	X	1255;1195;1272	.	ENSP00000287097:R1272X	R	+	1	2	CD109	74581470	0.008000	0.16893	0.000000	0.03702	0.608000	0.37181	0.951000	0.29135	0.053000	0.16036	0.585000	0.79938	CGA		0.313	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		7	59	0	0	0	1	0	7	59				
ATOH8	84913	broad.mit.edu	37	2	85991301	85991301	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:85991301G>A	ENST00000306279.3	+	2	1252	c.956G>A	c.(955-957)cGc>cAc	p.R319H	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	319					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCCAAGAAGCGCAAGGTATGC	0.627																																						ENST00000306279.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(955-957)cGc>cAc		atonal homolog 8 (Drosophila)							47.0	45.0	46.0					2																	85991301		2203	4300	6503	SO:0001583	missense	84913				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:85991301G>A	AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.956G>A	2.37:g.85991301G>A	ENSP00000304676:p.Arg319His					ATOH8_ENST00000463422.1_3'UTR	p.R319H	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN			2	1252	+			319					Q504S2|Q659B0	Missense_Mutation	SNP	ENST00000306279.3	37	c.956G>A	CCDS1985.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691944	0.88735	.	.	ENSG00000168874	ENST00000306279	D	0.96041	-3.89	5.02	4.14	0.48551	.	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	L	0.46157	1.445	0.45995	D	0.998809	D;D	0.89917	1.0;0.995	D;P	0.77004	0.989;0.847	D	0.96747	0.9551	10	0.87932	D	0	-18.169	14.2721	0.66157	0.0:0.0:0.8502:0.1498	.	319;319	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	H	319	ENSP00000304676:R319H	ENSP00000304676:R319H	R	+	2	0	ATOH8	85844812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.218000	0.95166	1.244000	0.43870	0.655000	0.94253	CGC		0.627	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252496.1	NM_032827		3	31	0	0	0	1	0	3	31				
AFF2	2334	broad.mit.edu	37	X	147743499	147743499	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:147743499T>C	ENST00000370460.2	+	3	730	c.251T>C	c.(250-252)tTg>tCg	p.L84S	AFF2_ENST00000370457.5_Missense_Mutation_p.L80S|AFF2_ENST00000370458.1_Missense_Mutation_p.L80S|AFF2_ENST00000342251.3_Missense_Mutation_p.L80S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	84					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAGAATTTGCTAACTAAC	0.403																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(250-252)tTg>tCg		AF4/FMR2 family, member 2							125.0	126.0	126.0					X																	147743499		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743499T>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.251T>C	X.37:g.147743499T>C	ENSP00000359489:p.Leu84Ser					AFF2_ENST00000342251.3_Missense_Mutation_p.L80S|AFF2_ENST00000370458.1_Missense_Mutation_p.L80S|AFF2_ENST00000370457.5_Missense_Mutation_p.L80S	p.L84S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	730	+	Acute lymphoblastic leukemia(192;6.56e-05)		84					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.251T>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527567	0.64860	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000006	T	0.69824	0.3154	L	0.31476	0.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999;0.999	T	0.73830	-0.3859	10	0.87932	D	0	.	14.6401	0.68717	0.0:0.0:0.0:1.0	.	84;80;80;80;84;80	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	S	84;80;80;80	ENSP00000359489:L84S;ENSP00000359486:L80S;ENSP00000345459:L80S;ENSP00000359487:L80S	ENSP00000345459:L80S	L	+	2	0	AFF2	147551191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.739000	0.84976	1.838000	0.53458	0.486000	0.48141	TTG		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		8	237	0	0	0	1	0	8	237				
SCN7A	6332	broad.mit.edu	37	2	167262859	167262859	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:167262859A>T	ENST00000409855.1	-	25	4406	c.4280T>A	c.(4279-4281)cTt>cAt	p.L1427H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AACTTGAAAAAGACAGAGCAT	0.358																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4279-4281)cTt>cAt		sodium channel, voltage-gated, type VII, alpha subunit							183.0	175.0	178.0					2																	167262859		1893	4142	6035	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167262859A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4280T>A	2.37:g.167262859A>T	ENSP00000386796:p.Leu1427His						p.L1427H	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4406	-			1427						Missense_Mutation	SNP	ENST00000409855.1	37	c.4280T>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007933	0.75046	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97731	-4.51	5.14	5.14	0.70334	Ion transport (1);	0.239589	0.29424	N	0.012194	D	0.98811	0.9599	M	0.91663	3.23	0.44937	D	0.997953	D	0.76494	0.999	D	0.70016	0.967	D	0.99624	1.0984	10	0.87932	D	0	.	13.2187	0.59875	1.0:0.0:0.0:0.0	.	1427	Q01118	SCN7A_HUMAN	H	1427	ENSP00000386796:L1427H	ENSP00000259060:L1427H	L	-	2	0	SCN7A	166971105	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.013000	0.93629	2.287000	0.76781	0.482000	0.46254	CTT		0.358	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			57	88	0	0	0	1	0	57	88				
GOLGA6C	653641	broad.mit.edu	37	15	75562495	75562495	+	Silent	SNP	G	G	T	rs138154232	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:75562495G>T	ENST00000300576.5	+	18	2037	c.2037G>T	c.(2035-2037)ccG>ccT	p.P679P	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679						Golgi apparatus (GO:0005794)				ovary(1)	1						ACAACCCCCCGGTACAGCAGA	0.602													N|||	184	0.0367412	0.1339	0.0086	5008	,	,		17187	0.0		0.001	False		,,,				2504	0.0					ENST00000300576.5																			0				ovary(1)	1						c.(2035-2037)ccG>ccT		golgin A6 family, member C							52.0	65.0	61.0					15																	75562495		652	1575	2227	SO:0001819	synonymous_variant	653641							g.chr15:75562495G>T		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2037G>T	15.37:g.75562495G>T							p.P679P	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2037	+			679						Silent	SNP	ENST00000300576.5	37	c.2037G>T	CCDS58388.1																																																																																				0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		6	106	1	0	3.59834e-05	1	3.71078e-05	6	106				
EIF2S3	1968	broad.mit.edu	37	X	24075552	24075552	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:24075552G>A	ENST00000253039.4	+	3	401	c.148G>A	c.(148-150)Gta>Ata	p.V50I		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	50	G1. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AATTGGTCATGTAGCTCATGG	0.313																																						ENST00000253039.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(148-150)Gta>Ata		eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							61.0	59.0	60.0					X																	24075552		2203	4300	6503	SO:0001583	missense	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24075552G>A	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.148G>A	X.37:g.24075552G>A	ENSP00000253039:p.Val50Ile						p.V50I	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN			3	401	+			50					B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	c.148G>A	CCDS14210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.777705|4.777705	0.90195|0.90195	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000423068|ENST00000253039	.|T	.|0.75367	.|-0.93	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Protein synthesis factor, GTP-binding (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83700|0.83700	0.5311|0.5311	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.56612	.|0.802	D|D	0.86232|0.86232	0.1638|0.1638	5|10	.|0.87932	.|D	.|0	.|.	18.1221|18.1221	0.89574|0.89574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|50	.|P41091	.|IF2G_HUMAN	Y|I	49|50	.|ENSP00000253039:V50I	.|ENSP00000253039:V50I	C|V	+|+	2|1	0|0	EIF2S3|EIF2S3	23985473|23985473	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.803000|0.803000	0.45373|0.45373	9.362000|9.362000	0.97126|0.97126	2.303000|2.303000	0.77524|0.77524	0.513000|0.513000	0.50165|0.50165	TGT|GTA		0.313	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		30	40	0	0	0	1	0	30	40				
ABI3BP	25890	broad.mit.edu	37	3	100489725	100489725	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr3:100489725G>A	ENST00000284322.5	-	29	2579	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	ABI3BP_ENST00000471714.1_Missense_Mutation_p.P1526S|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P778S	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	824					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCCTCTTTGGGGAACCGTTTG	0.542																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4576-4578)Ccc>Tcc		ABI family, member 3 (NESH) binding protein							190.0	198.0	195.0					3																	100489725		1991	4185	6176	SO:0001583	missense	25890					extracellular space		g.chr3:100489725G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2470C>T	3.37:g.100489725G>A	ENSP00000284322:p.Pro824Ser					ABI3BP_ENST00000383691.4_Missense_Mutation_p.P778S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P824S	p.P1526S			Q7Z7G0	TARSH_HUMAN			61	4685	-			824					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4576C>T	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288920	0.95517	.	.	ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	T;T;T	0.26067	2.03;1.76;1.79	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.998;0.989;0.998;0.998	T	0.45160	-0.9280	10	0.62326	D	0.03	-7.0255	20.4366	0.99092	0.0:0.0:1.0:0.0	.	778;824;1526;533	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.;TARSH_HUMAN;.;.	S	1526;824;533;235;778	ENSP00000420524:P1526S;ENSP00000284322:P824S;ENSP00000373189:P778S	ENSP00000284322:P824S	P	-	1	0	ABI3BP	101972415	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.133000	0.94460	2.837000	0.97791	0.591000	0.81541	CCC		0.542	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			4	79	0	0	0	1	0	4	79				
FOXK1	221937	broad.mit.edu	37	7	4796757	4796757	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:4796757C>G	ENST00000328914.4	+	5	1183	c.1183C>G	c.(1183-1185)Cgg>Ggg	p.R395G	FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACAGGCATTCCGGAAACGGAG	0.577																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1183-1185)Cgg>Ggg		forkhead box K1							90.0	98.0	95.0					7																	4796757		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4796757C>G	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1183C>G	7.37:g.4796757C>G	ENSP00000328720:p.Arg395Gly					FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G	p.R395G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	5	1183	+		Ovarian(82;0.0175)	395						Missense_Mutation	SNP	ENST00000328914.4	37	c.1183C>G	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693324	0.68386	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95656	-3.77;-3.77	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.73319	2.225	0.52501	D	0.999951	D;D	0.76494	0.99;0.999	D;D	0.73380	0.951;0.98	D	0.96611	0.9452	10	0.54805	T	0.06	.	12.6263	0.56632	0.2596:0.7404:0.0:0.0	.	395;232	P85037;P85037-2	FOXK1_HUMAN;.	G	232;159;395;278	ENSP00000394442:R232G;ENSP00000328720:R395G	ENSP00000328720:R395G	R	+	1	2	FOXK1	4763283	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.228000	0.51270	2.735000	0.93741	0.655000	0.94253	CGG		0.577	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			50	61	0	0	0	1	0	50	61				
CXCL6	6372	broad.mit.edu	37	4	74702569	74702569	+	Silent	SNP	C	C	G	rs200457897		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:74702569C>G	ENST00000226317.5	+	1	356	c.102C>G	c.(100-102)ctC>ctG	p.L34L	CXCL6_ENST00000515050.1_Silent_p.L34L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	34					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGGGGCCCCTCGCCAGCGGTG	0.701																																						ENST00000226317.5																			0				large_intestine(1)|lung(7)	8						c.(100-102)ctC>ctG		chemokine (C-X-C motif) ligand 6							16.0	20.0	19.0					4																	74702569		2187	4268	6455	SO:0001819	synonymous_variant	6372				cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr4:74702569C>G	U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.102C>G	4.37:g.74702569C>G						CXCL6_ENST00000515050.1_Silent_p.L34L	p.L34L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		1	356	+	Breast(15;0.00102)		34					B2R4X3|Q4W5D4	Silent	SNP	ENST00000226317.5	37	c.102C>G	CCDS3560.1																																																																																				0.701	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252283.2	NM_002993		19	14	0	0	0	1	0	19	14				
HELZ2	85441	broad.mit.edu	37	20	62196763	62196763	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr20:62196763T>A	ENST00000467148.1	-	8	3481	c.3412A>T	c.(3412-3414)Acc>Tcc	p.T1138S	HELZ2_ENST00000427522.2_Missense_Mutation_p.T569S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1138					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGCTCGAAGGTCTCTGGCACG	0.701																																						ENST00000467148.1																			0											c.(3412-3414)Acc>Tcc		helicase with zinc finger 2, transcriptional coactivator							13.0	14.0	14.0					20																	62196763		2171	4272	6443	SO:0001583	missense	85441							g.chr20:62196763T>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3412A>T	20.37:g.62196763T>A	ENSP00000417401:p.Thr1138Ser					HELZ2_ENST00000427522.2_Missense_Mutation_p.T569S	p.T1138S	NM_001037335.2	NP_001032412.2					8	3481	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3412A>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	T	4.641	0.119177	0.08881	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.21361	2.01;2.01	4.81	-0.232	0.13082	.	0.434509	0.22340	N	0.061348	T	0.14570	0.0352	L	0.57536	1.79	0.19945	N	0.999946	B;B	0.21821	0.036;0.061	B;B	0.20384	0.013;0.029	T	0.38845	-0.9642	10	0.07325	T	0.83	-37.8302	6.0947	0.20013	0.0:0.4612:0.3054:0.2334	.	1138;569	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	S	569;1138	ENSP00000393257:T569S;ENSP00000417401:T1138S	ENSP00000393257:T569S	T	-	1	0	RP4-697K14.7	61667207	0.017000	0.18338	0.451000	0.26982	0.029000	0.11900	-0.425000	0.07017	-0.037000	0.13646	0.402000	0.26972	ACC		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		11	11	0	0	0	1	0	11	11				
CROCCP3	114819	broad.mit.edu	37	1	16810895	16810896	+	RNA	INS	-	-	GGAGTCATCC			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:16810895_16810896insGGAGTCATCC	ENST00000263511.4	-	0	1635_1636					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGCTGCCGAAGGAGTCATCCG	0.743																																						ENST00000263511.4																			0																																																			0							g.chr1:16810895_16810896insGGAGTCATCC	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16810896_16810905dupGGAGTCATCC								NR_023386.1						0	1635_1636	-								Q96PW6	RNA	INS	ENST00000263511.4	37																																																																																						0.743	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		3	5						3	5	---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28555576	28555577	+	Frame_Shift_Ins	INS	-	-	C	rs187010639	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr3:28555576_28555577insC	ENST00000383768.2	+	7	867_868	c.679_680insC	c.(679-681)attfs	p.I227fs	ZCWPW2_ENST00000421010.1_Frame_Shift_Ins_p.I227fs			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	227							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TAAAAATAATATTGAAAAGAAG	0.257																																						ENST00000383768.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						c.(679-681)tgafs		zinc finger, CW type with PWWP domain 2																																				SO:0001589	frameshift_variant	152098						zinc ion binding	g.chr3:28555576_28555577insC	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	Exception_encountered	3.37:g.28555576_28555577insC	ENSP00000373278:p.Ile227fs					ZCWPW2_ENST00000421010.1_Frame_Shift_Ins_p.*227fs	p.*227fs			Q504Y3	ZCPW2_HUMAN			7	867_868	+			227						Frame_Shift_Ins	INS	ENST00000383768.2	37	c.679_680insC	CCDS33723.1																																																																																				0.257	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		17	29						17	29	---	---	---	---
RP11-324C10.1	0	broad.mit.edu	37	3	172992494	172992494	+	lincRNA	DEL	C	C	-	rs565471684|rs371260857|rs79222726	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr3:172992494delC	ENST00000447709.1	+	0	216																											aacaaacaaacaaaaacatgt	0.512													|||unknown(STR4?)	1924	0.384185	0.3797	0.3833	5008	,	,		20514	0.5536		0.2406	False		,,,				2504	0.364					ENST00000447709.1																			0																																																			0							g.chr3:172992494delC																													3.37:g.172992494delC														0	216	+									RNA	DEL	ENST00000447709.1	37																																																																																						0.512	RP11-324C10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347063.2			9	6						9	6	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		2	Deletion - Frameshift(2)	p.R487fs*3(2)	large_intestine(1)|kidney(1)	large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1447-1449)afs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319248_54319249delAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs					FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	p.R483fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1641_1642	+			483			Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	ENST00000337488.6	37	c.1447_1448delAG	CCDS3491.1																																																																																				0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		7	56						7	56	---	---	---	---
SNRNP48	154007	broad.mit.edu	37	6	7594048	7594048	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr6:7594048delT	ENST00000342415.5	+	2	297	c.238delT	c.(238-240)ttgfs	p.L80fs		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	80					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ATCTTGTAGATTGAGGAAAAT	0.308																																						ENST00000342415.5																			0				kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(238-240)tgfs		small nuclear ribonucleoprotein 48kDa (U11/U12)							103.0	101.0	102.0					6																	7594048		2203	4300	6503	SO:0001589	frameshift_variant	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7594048delT	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.238delT	6.37:g.7594048delT	ENSP00000339834:p.Leu80fs						p.L80fs	NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN			2	297	+			80					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Frame_Shift_Del	DEL	ENST00000342415.5	37	c.238delT	CCDS4502.1																																																																																				0.308	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		43	56						43	56	---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77256691	77256692	+	Frame_Shift_Del	DEL	TG	TG	-	rs547719565		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:77256691_77256692delTG	ENST00000248594.6	+	13	1967_1968	c.1695_1696delTG	c.(1693-1698)actgtgfs	p.V566fs	PTPN12_ENST00000435495.2_Frame_Shift_Del_p.V436fs|PTPN12_ENST00000415482.2_Frame_Shift_Del_p.V447fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	566					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CTAGGAAAACTGTGAGTTTAAC	0.396																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1693-1698)actgfs		protein tyrosine phosphatase, non-receptor type 12																																				SO:0001589	frameshift_variant	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256691_77256692delTG		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1695_1696delTG	7.37:g.77256693_77256694delTG	ENSP00000248594:p.Val566fs					PTPN12_ENST00000415482.2_Frame_Shift_Del_p.TV446fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.TV435fs	p.TV565fs	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1967_1968	+			565					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Frame_Shift_Del	DEL	ENST00000248594.6	37	c.1695_1696delTG	CCDS5592.1																																																																																				0.396	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			8	122						8	122	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149483379	149483379	+	RNA	DEL	C	C	-	rs571624325		TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:149483379delC	ENST00000378016.2	+	0	3379							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTTGAACTCACCCCAACTTCT	0.617																																						ENST00000378016.2																			0													SCO-spondin																																						23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149483379delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149483379delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3379	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.617	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				2	4						2	4	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78790207	78790208	+	Intron	INS	-	-	GAATA	rs55947300|rs10124596|rs71372053	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr9:78790207_78790208insGAATA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.-689fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaatag	0.342																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2062-2064)aatfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790207_78790208insGAATA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+162->GAATA	9.37:g.78790213_78790217dupGAATA						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.N688fs			Q92824	PCSK5_HUMAN			14	2574_2575	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.2062_2063insGAATA	CCDS55320.1																																																																																				0.342	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	7						4	7	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651200	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCC	rs71025763|rs144216147	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr11:1651199_1651200insGGCTGTGGCTCC	ENST00000399676.2	+	1	167_168	c.129_130insGGCTGTGGCTCC	c.(130-132)ggc>GGCTGTGGCTCCggc	p.44_44G>GCGSG		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtggggg	0.713																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-132)gggctg>ggGGCTGTGGCTCCgctg		keratin associated protein 5-5																																				SO:0001652	inframe_insertion	439915					keratin filament		g.chr11:1651199_1651200insGGCTGTGGCTCC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	Exception_encountered	11.37:g.1651199_1651200insGGCTGTGGCTCC	Exception_encountered						p.43_44GL>GAVAPL	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_168	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Ins	INS	ENST00000399676.2	37	c.129_130insGGCTGTGGCTCC	CCDS41592.1																																																																																				0.713	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			42	27						42	27	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		16	35						16	35	---	---	---	---
IGHV3-11	28450	broad.mit.edu	37	14	106573362	106573364	+	RNA	DEL	ACC	ACC	-	rs2003432|rs367875175	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr14:106573362_106573364delACC	ENST00000390601.2	-	0	339_341									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		ATATGGTACTACCACTACTACTA	0.522																																						ENST00000390601.2																			0																																																			0							g.chr14:106573362_106573364delACC	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573362_106573364delACC														0	339_341	-									RNA	DEL	ENST00000390601.2	37																																																																																						0.522	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		7	510						7	510	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57545486	57545487	+	Frame_Shift_Ins	INS	-	-	ATCT			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:57545486_57545487insATCT	ENST00000267811.5	+	15	1519_1520	c.1215_1216insATCT	c.(1216-1218)agafs	p.R406fs	TCF12_ENST00000343827.3_Frame_Shift_Ins_p.R236fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.R430fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.R64fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.R170fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.R260fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.R406fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.R40fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.R430fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.R426fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	406					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATCGTTTAGACAGACTGGATGA	0.441			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1213-1218)gagactfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57545486_57545487insATCT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	Exception_encountered	15.37:g.57545486_57545487insATCT	ENSP00000267811:p.Arg406fs					TCF12_ENST00000537840.1_Frame_Shift_Ins_p.T170fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.T236fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.T430fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.T64fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.T430fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.T40fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.T406fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.T260fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.T426fs	p.T406fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	15	1519_1520	+		Colorectal(260;0.0907)	406					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.1215_1216insATCT	CCDS10159.1																																																																																				0.441	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		24	44						24	44	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751762	7751763	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:7751762_7751763insG	ENST00000448097.2	+	11	2487_2488	c.2156_2157insG	c.(2155-2160)gtggccfs	p.A720fs	KDM6B_ENST00000254846.5_Frame_Shift_Ins_p.A720fs			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	720	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAAGCAGGCGTGGCCCCCCAAC	0.584																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2155-2157)ggcfs		lysine (K)-specific demethylase 6B																																				SO:0001589	frameshift_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751762_7751763insG	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2158dupG	17.37:g.7751764_7751764dupG	ENSP00000412513:p.Ala720fs					KDM6B_ENST00000448097.2_Frame_Shift_Ins_p.G719fs	p.G719fs	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2545_2546	+			719			Pro-rich.		C9IZ40|Q96G33	Frame_Shift_Ins	INS	ENST00000448097.2	37	c.2156_2157insG																																																																																					0.584	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	102						10	102	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		93	38						93	38	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47455945	47455945	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr18:47455945delT	ENST00000285039.7	-	17	2326	c.2027delA	c.(2026-2028)cagfs	p.Q677fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	677	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTGAGTTGCTGCACTGCTCT	0.493																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2026-2028)cgfs		myosin VB							27.0	28.0	28.0					18																	47455945		1914	4126	6040	SO:0001589	frameshift_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47455945delT	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2027delA	18.37:g.47455945delT	ENSP00000285039:p.Gln677fs						p.Q677fs	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	17	2326	-			677			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	ENST00000285039.7	37	c.2027delA	CCDS42436.1																																																																																				0.493	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			8	14						8	14	---	---	---	---
CYP4F8	11283	broad.mit.edu	37	19	15733290	15733293	+	RNA	DEL	GAGA	GAGA	-			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:15733290_15733293delGAGA	ENST00000441682.2	+	0	708							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						aggagagaaggagagagagagaga	0.515																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15733290_15733293delGAGA	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733298_15733301delGAGA										P98187	CP4F8_HUMAN			0	708	+									RNA	DEL	ENST00000441682.2	37																																																																																						0.515	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		5	2						5	2	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-5870-02A-12D-A36O-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)gagdel	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2785-2787)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36696948_36696950delCTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2785_2787delGAG	22.37:g.36696957_36696959delCTC	ENSP00000216181:p.Glu929del						p.E929del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			22	3015_3017	-			929					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.2785_2787delGAG	CCDS13927.1																																																																																				0.665	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	87						7	87	---	---	---	---
