#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
AADACL4	343066	broad.mit.edu	37	1	12726313	12726313	+	Missense_Mutation	SNP	G	G	A	rs369427733		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:12726313G>A	ENST00000376221.1	+	4	791	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCTCCTGGCGTGACGCCATC	0.498																																						uc001auf.2																			0					0						c.(790-792)CGT>CAT		arylacetamide deacetylase-like 4		G	HIS/ARG	0,4406		0,0,2203	140.0	137.0	138.0		791	-2.9	0.0	1		138	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	264/408	12726313	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726313G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.791G>A	1.37:g.12726313G>A	ENSP00000365395:p.Arg264His						p.R264H	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	791	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	264			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.791G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263021	0.10294	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.58797	0.31	4.38	-2.91	0.05631	.	3.304730	0.00815	N	0.001532	T	0.37433	0.1003	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.13791	-1.0496	10	0.14656	T	0.56	0.0023	6.7474	0.23468	0.6682:0.0:0.1363:0.1955	.	264	Q5VUY2	ADCL4_HUMAN	H	264	ENSP00000365395:R264H	ENSP00000365395:R264H	R	+	2	0	AADACL4	12648900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.331000	0.02672	-0.392000	0.07751	-0.345000	0.07892	CGT		0.498	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
MCL1	4170	broad.mit.edu	37	1	150550855	150550856	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:150550855_150550856delGA	ENST00000369026.2	-	2	859_860	c.800_801delTC	c.(799-801)ctcfs	p.L267fs	MCL1_ENST00000464132.1_5'UTR|MCL1_ENST00000307940.3_Intron	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	267					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAAAAGAAATGAGAGTCACAAT	0.436																																						uc001euz.2																			0					0						c.(799-801)CTCfs		myeloid cell leukemia sequence 1 isoform 1																																				SO:0001589	frameshift_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150550855_150550856delGA	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.800_801delTC	1.37:g.150550857_150550858delGA	ENSP00000358022:p.Leu267fs					MCL1_uc010pch.1_Frame_Shift_Del_p.L157fs|MCL1_uc001eva.2_Intron	p.L267fs	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	930_931	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		267			BH1.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Frame_Shift_Del	DEL	ENST00000369026.2	37	c.800_801delTC	CCDS957.1																																																																																				0.436	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960	
MDM4	4194	broad.mit.edu	37	1	204507404	204507404	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:204507404C>G	ENST00000367182.3	+	7	641	c.479C>G	c.(478-480)aCc>aGc	p.T160S	MDM4_ENST00000454264.2_Missense_Mutation_p.T160S|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_Nonsense_Mutation_p.Y137*	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	160					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)	p.T160S(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACACTGCCTACCTCAGAGCAT	0.393			A		"""GBM, bladder, retinoblastoma"""																																	uc001hba.2				Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			GBM|bladder|retinoblastoma		1	Substitution - Missense(1)	p.T160S(1)	central_nervous_system(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(478-480)ACC>AGC		mouse double minute 4 homolog							196.0	185.0	189.0					1																	204507404		2203	4300	6503	SO:0001583	missense	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204507404C>G	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.479C>G	1.37:g.204507404C>G	ENSP00000356150:p.Thr160Ser					MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.T33S|MDM4_uc001hay.1_Missense_Mutation_p.T160S|MDM4_uc001hbb.2_Missense_Mutation_p.T33S|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA	p.T160S	NM_002393	NP_002384	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		7	641	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		160					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Missense_Mutation	SNP	ENST00000367182.3	37	c.479C>G	CCDS1447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.324276|4.324276	0.81580|0.81580	.|.	.|.	ENSG00000198625|ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367179|ENST00000543518;ENST00000391947	T;T;T|.	0.50277|.	1.5;1.45;0.75|.	5.76|5.76	4.83|4.83	0.62350|0.62350	.|.	0.613450|.	0.19412|.	N|.	0.114904|.	T|.	0.53658|.	0.1810|.	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	A|A	1|1	D;P|.	0.89917|.	1.0;0.7|.	D;B|.	0.80764|.	0.994;0.228|.	T|.	0.54536|.	-0.8279|.	9|.	0.25751|0.02654	T|T	0.34|1	-3.5541|-3.5541	13.9404|13.9404	0.64052|0.64052	0.1523:0.8477:0.0:0.0|0.1523:0.8477:0.0:0.0	.|.	160;160|.	O15151;Q2M2Y2|.	MDM4_HUMAN;.|.	S|X	160;160;45|150;137	ENSP00000356150:T160S;ENSP00000396840:T160S;ENSP00000356147:T45S|.	ENSP00000356147:T45S|ENSP00000375811:Y137X	T|Y	+|+	2|3	0|2	MDM4|MDM4	202774027|202774027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	3.457000|3.457000	0.53007|0.53007	1.388000|1.388000	0.46506|0.46506	0.591000|0.591000	0.81541|0.81541	ACC|TAC		0.393	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	NM_002393	
CR1L	1379	broad.mit.edu	37	1	207868047	207868047	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:207868047G>T	ENST00000508064.2	+	5	873	c.813G>T	c.(811-813)aaG>aaT	p.K271N	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	271	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATGTGAAGTGCCAGGCCC	0.507																																						uc001hga.3																			0					0						c.(811-813)AAG>AAT		complement component (3b/4b) receptor 1-like							100.0	103.0	102.0					1																	207868047		1951	4147	6098	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207868047G>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.813G>T	1.37:g.207868047G>T	ENSP00000421736:p.Lys271Asn					CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	p.K271N	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			5	934	+			271			Sushi 4.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.813G>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163321	0.00318	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.65364	-0.15	2.38	-4.75	0.03239	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.43656	0.1257	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.22753	0.041	T	0.11991	-1.0565	9	0.26408	T	0.33	.	0.4213	0.00456	0.1934:0.2814:0.2287:0.2964	.	271	Q2VPA4	CR1L_HUMAN	N	271	ENSP00000421736:K271N	ENSP00000434864:K215N	K	+	3	2	CR1L	205934670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.957000	0.00166	-4.323000	0.00056	-2.929000	0.00088	AAG		0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	
USH2A	7399	broad.mit.edu	37	1	216052218	216052218	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:216052218T>G	ENST00000307340.3	-	42	8832	c.8446A>C	c.(8446-8448)Act>Cct	p.T2816P	USH2A_ENST00000366943.2_Missense_Mutation_p.T2816P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2816	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGGGTGAGTGGTAACATAG	0.458										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8446-8448)ACT>CCT		usherin isoform B							168.0	152.0	157.0					1																	216052218		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052218T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8446A>C	1.37:g.216052218T>G	ENSP00000305941:p.Thr2816Pro	HNSCC(13;0.011)					p.T2816P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8833	-			2816			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8446A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354255	0.82243	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62232	0.04;0.04	5.9	5.9	0.94986	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000295	D	0.84977	0.5592	H	0.94183	3.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.88832	0.3306	10	0.62326	D	0.03	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	2816	O75445	USH2A_HUMAN	P	2816	ENSP00000305941:T2816P;ENSP00000355910:T2816P	ENSP00000305941:T2816P	T	-	1	0	USH2A	214118841	1.000000	0.71417	0.881000	0.34555	0.736000	0.42039	7.456000	0.80751	2.251000	0.74343	0.528000	0.53228	ACT		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
CRTAC1	55118	broad.mit.edu	37	10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:99696002C>T	ENST00000370597.3	-	3	701	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G116R|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G116R	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	116						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGACCCCGATGGCGTTC	0.632																																						uc001kou.1																			0				ovary(4)|pancreas(1)	5						c.(346-348)GGG>AGG		cartilage acidic protein 1 precursor							75.0	58.0	64.0					10																	99696002		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99696002C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.346G>A	10.37:g.99696002C>T	ENSP00000359629:p.Gly116Arg					CRTAC1_uc001kov.2_Missense_Mutation_p.G105R|CRTAC1_uc001kot.1_5'UTR	p.G116R	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	702	-		Colorectal(252;0.24)	116			FG-GAP 2; atypical.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.346G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515736	0.85495	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69577	-0.5108	10	0.87932	D	0	-20.2376	17.7666	0.88480	0.0:1.0:0.0:0.0	.	116;116	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	R	12;116;116;108;116	ENSP00000408445:G12R;ENSP00000359629:G116R;ENSP00000298819:G116R;ENSP00000310810:G108R;ENSP00000359623:G116R	ENSP00000298819:G116R	G	-	1	0	CRTAC1	99685992	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	7.709000	0.84645	2.204000	0.70986	0.313000	0.20887	GGG		0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
CACUL1	143384	broad.mit.edu	37	10	120513921	120513923	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:120513921_120513923delGGA	ENST00000369151.3	-	1	835_837	c.352_354delTCC	c.(352-354)tccdel	p.S118del	CACUL1_ENST00000340214.4_In_Frame_Del_p.S118del	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	118					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										ACTTGGAGGTGGAGGTGTTGATG	0.621																																						uc001lds.1																			0					0						c.(352-354)TCCdel		chromosome 10 open reading frame 46																																				SO:0001651	inframe_deletion	143384				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:120513921_120513923delGGA	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.352_354delTCC	10.37:g.120513921_120513923delGGA	ENSP00000358147:p.Ser118del					C10orf46_uc010qst.1_RNA	p.S118del	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN		all cancers(201;0.0131)	1	836_838	-		Lung NSC(174;0.142)|all_lung(145;0.175)	118					Q5XPL7|Q8IY11|Q8N7S4	In_Frame_Del	DEL	ENST00000369151.3	37	c.352_354delTCC	CCDS41570.1																																																																																				0.621	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810	
LRRC56	115399	broad.mit.edu	37	11	544759	544759	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:544759G>A	ENST00000270115.7	+	6	805	c.305G>A	c.(304-306)gGc>gAc	p.G102D		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	102										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGCTGAACGGCAGCCACCTG	0.701																																						uc010qvz.1																			0				skin(1)	1						c.(304-306)GGC>GAC		leucine rich repeat containing 56							42.0	40.0	40.0					11																	544759		2203	4299	6502	SO:0001583	missense	115399							g.chr11:544759G>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.305G>A	11.37:g.544759G>A	ENSP00000270115:p.Gly102Asp						p.G102D	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	810	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	102			LRR 1.		Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.305G>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572841	0.28092	.	.	ENSG00000161328	ENST00000270115	T	0.25414	1.8	4.24	1.27	0.21489	.	0.289487	0.35903	N	0.002907	T	0.15652	0.0377	L	0.47716	1.5	0.33837	D	0.630975	B	0.24132	0.098	B	0.15052	0.012	T	0.20706	-1.0267	10	0.10377	T	0.69	-18.792	5.615	0.17426	0.464:0.0:0.536:0.0	.	102	Q8IYG6	LRC56_HUMAN	D	102	ENSP00000270115:G102D	ENSP00000270115:G102D	G	+	2	0	LRRC56	534759	0.997000	0.39634	0.957000	0.39632	0.648000	0.38561	0.845000	0.27668	0.522000	0.28464	0.491000	0.48974	GGC		0.701	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075	
SLC22A25	387601	broad.mit.edu	37	11	62995959	62995959	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:62995959G>A	ENST00000306494.6	-	2	479	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SLC22A25_ENST00000403374.2_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CATATAGGTTGCCTCCCACCA	0.408																																						uc001nwr.1																			0				ovary(3)|skin(1)	4						c.(478-480)GGC>GGT		putative UST1-like organic anion transporter							115.0	101.0	106.0					11																	62995959		2201	4298	6499	SO:0001819	synonymous_variant	387601				transmembrane transport	integral to membrane		g.chr11:62995959G>A	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.480C>T	11.37:g.62995959G>A						SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	p.G160G	NM_199352	NP_955384	Q6T423	S22AP_HUMAN			2	480	-			160			Helical; Name=2; (Potential).			Silent	SNP	ENST00000306494.6	37	c.480C>T	CCDS31592.1																																																																																				0.408	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2																			1	Deletion - In frame(1)		large_intestine(1)	ovary(1)	1						c.(676-678)AAGdel		HCF-binding transcription factor Zhangfei				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	p.K226del	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			1	939_941	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226			Basic motif.		B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618	
EXPH5	23086	broad.mit.edu	37	11	108382300	108382300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:108382300C>T	ENST00000265843.4	-	6	4044	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	EXPH5_ENST00000428840.1_Missense_Mutation_p.E1236K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E1124K|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1305K	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1312					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAGATTTTCACATGAAGGT	0.413																																						uc001pkk.2																			0				skin(3)|ovary(2)	5						c.(3934-3936)GAA>AAA		exophilin 5 isoform a							93.0	98.0	96.0					11																	108382300		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108382300C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3934G>A	11.37:g.108382300C>T	ENSP00000265843:p.Glu1312Lys					EXPH5_uc010rvy.1_Missense_Mutation_p.E1124K|EXPH5_uc010rvz.1_Missense_Mutation_p.E1156K|EXPH5_uc010rwa.1_Missense_Mutation_p.E1236K	p.E1312K	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4045	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1312					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.3934G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186541	0.38609	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04317	4.25;4.18;4.03;4.25;4.09;3.65	5.45	-0.0916	0.13660	.	0.649006	0.15037	N	0.284070	T	0.02848	0.0085	N	0.17674	0.51	0.09310	N	1	B	0.17268	0.021	B	0.21917	0.037	T	0.48422	-0.9037	10	0.14656	T	0.56	-6.1437	6.1667	0.20394	0.0:0.3145:0.4088:0.2767	.	1312	Q8NEV8	EXPH5_HUMAN	K	1312;1236;1124;1305;1236;1124	ENSP00000265843:E1312K;ENSP00000391966:E1236K;ENSP00000411390:E1124K;ENSP00000432546:E1305K;ENSP00000432683:E1236K;ENSP00000446434:E1124K	ENSP00000265843:E1312K	E	-	1	0	EXPH5	107887510	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.270000	0.18607	0.103000	0.17682	0.591000	0.81541	GAA		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
ASUN	55726	broad.mit.edu	37	12	27059333	27059333	+	Silent	SNP	G	G	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:27059333G>T	ENST00000261191.7	-	16	2519	c.1983C>A	c.(1981-1983)atC>atA	p.I661I	ASUN_ENST00000539625.1_Silent_p.I560I	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	661					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGCAGTATTGATTCTATTAC	0.323																																						uc001rhk.3																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1981-1983)ATC>ATA		hypothetical protein LOC55726							101.0	107.0	105.0					12																	27059333		2203	4299	6502	SO:0001819	synonymous_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27059333G>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1983C>A	12.37:g.27059333G>T						C12orf11_uc001rhj.3_Silent_p.I229I|C12orf11_uc010sjk.1_Silent_p.I560I	p.I661I	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			16	2520	-	Colorectal(261;0.0847)		661					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	c.1983C>A	CCDS8708.1																																																																																				0.323	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
LRRK2	120892	broad.mit.edu	37	12	40668431	40668431	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:40668431C>G	ENST00000298910.7	+	15	1761	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S568C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	568					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGTAATTTCTTCTATTGTA	0.358																																						uc001rmg.3																			0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(1702-1704)TCT>TGT		leucine-rich repeat kinase 2							146.0	147.0	147.0					12																	40668431		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40668431C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1703C>G	12.37:g.40668431C>G	ENSP00000298910:p.Ser568Cys					LRRK2_uc001rmh.1_Missense_Mutation_p.S190C	p.S568C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			15	1824	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	568					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1703C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005969	0.35415	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.67171	-0.25;1.3;1.3	6.07	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.295585	0.38959	N	0.001506	T	0.62183	0.2407	L	0.43152	1.355	0.23640	N	0.997222	D;D	0.56746	0.964;0.977	P;P	0.47206	0.541;0.503	T	0.61357	-0.7079	10	0.62326	D	0.03	.	10.3076	0.43689	0.0:0.6835:0.2483:0.0683	.	568;568	E9PC85;Q5S007	.;LRRK2_HUMAN	C	316;568;568	ENSP00000398726:S316C;ENSP00000341930:S568C;ENSP00000298910:S568C	ENSP00000298910:S568C	S	+	2	0	LRRK2	38954698	1.000000	0.71417	0.301000	0.25044	0.156000	0.22039	2.180000	0.42537	2.885000	0.99019	0.655000	0.94253	TCT		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
ANKRD52	283373	broad.mit.edu	37	12	56638930	56638930	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56638930A>G	ENST00000267116.7	-	22	2570	c.2449T>C	c.(2449-2451)Tcg>Ccg	p.S817P	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	817										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCAGGTACGAAAACGGGCTG	0.522																																						uc001skm.3																			0				ovary(2)	2						c.(2449-2451)TCG>CCG		ankyrin repeat domain 52							184.0	166.0	172.0					12																	56638930		2009	4188	6197	SO:0001583	missense	283373						protein binding	g.chr12:56638930A>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2449T>C	12.37:g.56638930A>G	ENSP00000267116:p.Ser817Pro						p.S817P	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			22	2539	-			817			ANK 23.		A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2449T>C	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.955127	0.34471	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.16073	2.37	4.12	2.96	0.34315	Ankyrin repeat-containing domain (3);	0.639579	0.15299	N	0.269715	T	0.06096	0.0158	N	0.01742	-0.745	0.33282	D	0.56237	B	0.14012	0.009	B	0.19946	0.027	T	0.11470	-1.0586	10	0.42905	T	0.14	.	5.0399	0.14454	0.5887:0.3103:0.1009:0.0	.	817	Q8NB46	ANR52_HUMAN	P	817	ENSP00000267116:S817P	ENSP00000267116:S817P	S	-	1	0	ANKRD52	54925197	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.329000	0.43876	0.754000	0.32968	0.379000	0.24179	TCG		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
ANKRD52	283373	broad.mit.edu	37	12	56639372	56639372	+	Silent	SNP	A	A	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56639372A>C	ENST00000267116.7	-	21	2314	c.2193T>G	c.(2191-2193)acT>acG	p.T731T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	731										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCTCACAGCCAGTCACTGCCT	0.587																																						uc001skm.3																			0				ovary(2)	2						c.(2191-2193)ACT>ACG		ankyrin repeat domain 52							37.0	40.0	39.0					12																	56639372		2077	4200	6277	SO:0001819	synonymous_variant	283373						protein binding	g.chr12:56639372A>C	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2193T>G	12.37:g.56639372A>C							p.T731T	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN			21	2283	-			731			ANK 21.		A6NE79|B1Q2K2	Silent	SNP	ENST00000267116.7	37	c.2193T>G	CCDS44920.1																																																																																				0.587	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
IL22	50616	broad.mit.edu	37	12	68647046	68647046	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:68647046C>G	ENST00000538666.1	-	2	253	c.183G>C	c.(181-183)aaG>aaC	p.K61N	IL22_ENST00000328087.4_Missense_Mutation_p.K61N			Q9GZX6	IL22_HUMAN	interleukin 22	61					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGTATACCTCCTTAGCCAGCA	0.483																																						uc001sty.1																			0					0						c.(181-183)AAG>AAC		interleukin 22 precursor							82.0	71.0	75.0					12																	68647046		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68647046C>G	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.183G>C	12.37:g.68647046C>G	ENSP00000442424:p.Lys61Asn					IL22_uc010stb.1_Missense_Mutation_p.K61N	p.K61N	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	1	236	-		Myeloproliferative disorder(1001;0.0255)	61						Missense_Mutation	SNP	ENST00000538666.1	37	c.183G>C	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187987	0.38609	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.53206	0.63;0.63	5.31	-2.69	0.06022	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.111450	0.06618	N	0.756874	T	0.26521	0.0648	N	0.22421	0.69	0.21499	N	0.999663	P	0.42010	0.768	B	0.38225	0.268	T	0.11690	-1.0577	9	.	.	.	-0.1995	2.0086	0.03482	0.1138:0.2734:0.3344:0.2783	.	61	Q9GZX6	IL22_HUMAN	N	61	ENSP00000442424:K61N;ENSP00000329384:K61N	.	K	-	3	2	IL22	66933313	0.002000	0.14202	0.019000	0.16419	0.913000	0.54294	-0.620000	0.05565	-0.623000	0.05618	0.561000	0.74099	AAG		0.483	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525	
RPLP0	6175	broad.mit.edu	37	12	120636422	120636422	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:120636422C>T	ENST00000551150.1	-	5	901	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.G196S|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.G196S|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000546989.1_Missense_Mutation_p.G160S|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000542265.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0	196					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATGCTGCCATTGTCGAAC	0.532																																						uc001txp.2																			0				ovary(1)	1						c.(586-588)GGC>AGC		ribosomal protein P0							88.0	81.0	83.0					12																	120636422		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636422C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.586G>A	12.37:g.120636422C>T	ENSP00000449328:p.Gly196Ser					RPLP0_uc001txq.2_Missense_Mutation_p.G196S|RPLP0_uc001txr.2_Intron|uc001txs.1_5'Flank	p.G196S	NM_053275	NP_444505	P05388	RLA0_HUMAN			6	823	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		196					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.586G>A	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866769	0.91511	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856	.	.	.	5.51	4.62	0.57501	.	0.060167	0.64402	N	0.000003	T	0.75199	0.3817	M	0.80028	2.48	0.80722	D	1	B	0.33345	0.409	B	0.43331	0.416	T	0.78046	-0.2357	9	0.87932	D	0	.	14.2283	0.65875	0.0:0.9281:0.0:0.0719	.	196	P05388	RLA0_HUMAN	S	196;196;160;196;147;176;196	.	ENSP00000339027:G196S	G	-	1	0	RPLP0	119120805	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.008000	0.70739	1.330000	0.45394	0.655000	0.94253	GGC		0.532	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275	
HIP1R	9026	broad.mit.edu	37	12	123346052	123346052	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:123346052G>A	ENST00000253083.4	+	31	3275	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	1050					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCCAGACAGGACCACCAGG	0.677																																						uc001udj.1																			0				ovary(1)	1						c.(3148-3150)CAG>CAA		huntingtin interacting protein-1-related							16.0	19.0	18.0					12																	123346052		2194	4292	6486	SO:0001819	synonymous_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123346052G>A	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.3150G>A	12.37:g.123346052G>A						HIP1R_uc001udk.1_Silent_p.Q315Q	p.Q1050Q	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	31	3209	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1050					A6NHQ6|Q6NXG8|Q9UED9	Silent	SNP	ENST00000253083.4	37	c.3150G>A	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	4.836	0.155440	0.09236	.	.	ENSG00000130787	ENST00000535012	.	.	.	5.06	1.98	0.26296	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46965	-0.9153	4	.	.	.	-11.2519	6.4187	0.21732	0.2374:0.139:0.6236:0.0	.	.	.	.	K	179	.	.	R	+	2	0	HIP1R	121912005	0.947000	0.32204	0.986000	0.45419	0.466000	0.32739	0.277000	0.18734	1.088000	0.41272	0.462000	0.41574	AGG		0.677	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	
NALCN	259232	broad.mit.edu	37	13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr13:102047697C>T	ENST00000251127.6	-	3	209	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R43H|NALCN_ENST00000376200.5_Missense_Mutation_p.R43H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	43					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433																																						uc001vox.1																			0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(127-129)CGC>CAC		voltage gated channel like 1							123.0	100.0	108.0					13																	102047697		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047697C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.128G>A	13.37:g.102047697C>T	ENSP00000251127:p.Arg43His					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			3	317	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		43			Helical; Name=S1 of repeat I; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.128G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179813	0.94846	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.97404	-4.37;-4.37;-4.37	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.964;0.971	D	0.98748	1.0719	10	0.62326	D	0.03	.	19.7619	0.96323	0.0:1.0:0.0:0.0	.	43;43	F2Z323;Q8IZF0	.;NALCN_HUMAN	H	43	ENSP00000251127:R43H;ENSP00000365367:R43H;ENSP00000365373:R43H	ENSP00000251127:R43H	R	-	2	0	NALCN	100845698	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.681000	0.91329	0.561000	0.74099	CGC		0.433	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
OR4N2	390429	broad.mit.edu	37	14	20295961	20295961	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:20295961G>A	ENST00000315947.1	+	1	354	c.354G>A	c.(352-354)atG>atA	p.M118I	OR4N2_ENST00000568211.1_Missense_Mutation_p.M118I	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTGTGATGGCCTTTGACC	0.517																																						uc010tkv.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(352-354)ATG>ATA		olfactory receptor, family 4, subfamily N,							142.0	152.0	149.0					14																	20295961		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295961G>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.354G>A	14.37:g.20295961G>A	ENSP00000319601:p.Met118Ile						p.M118I	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	354	+	all_cancers(95;0.00108)		118			Helical; Name=3; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.354G>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	23.1	4.379365	0.82682	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.01126	5.3;5.3	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.10895	0.0266	H	0.94964	3.605	0.40838	D	0.983645	D	0.89917	1.0	D	0.87578	0.998	T	0.01118	-1.1446	10	0.87932	D	0	-25.7282	15.1112	0.72359	0.0:0.0:1.0:0.0	.	118	Q8NGD1	OR4N2_HUMAN	I	118	ENSP00000452022:M118I;ENSP00000319601:M118I	ENSP00000319601:M118I	M	+	3	0	OR4N2	19365801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.958000	0.93099	2.488000	0.83962	0.591000	0.81541	ATG		0.517	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
MIA2	117153	broad.mit.edu	37	14	39703346	39703348	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:39703346_39703348delCTT	ENST00000280082.3	+	1	227_229	c.28_30delCTT	c.(28-30)cttdel	p.L12del	RP11-407N17.3_ENST00000553728.1_In_Frame_Del_p.L12del|MIA2_ENST00000556784.1_In_Frame_Del_p.L12del	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	12					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCACAGAATCCTTCTTCTGGCTA	0.424																																						uc001wux.2																			0				ovary(1)|breast(1)	2						c.(28-30)CTTdel		melanoma inhibitory activity 2																																				SO:0001651	inframe_deletion	117153					extracellular region		g.chr14:39703346_39703348delCTT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.28_30delCTT	14.37:g.39703349_39703351delCTT	ENSP00000280082:p.Leu12del					MIA2_uc010amy.1_5'UTR	p.L12del	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	1	222_224	+	Hepatocellular(127;0.213)		12					A1L4H0|Q9H6C1	In_Frame_Del	DEL	ENST00000280082.3	37	c.28_30delCTT	CCDS9672.1																																																																																				0.424	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
SIN3A	25942	broad.mit.edu	37	15	75705213	75705213	+	Missense_Mutation	SNP	A	A	G	rs199949593		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr15:75705213A>G	ENST00000394947.3	-	5	961	c.647T>C	c.(646-648)aTc>aCc	p.I216T	SIN3A_ENST00000394949.4_Missense_Mutation_p.I216T|SIN3A_ENST00000360439.4_Missense_Mutation_p.I216T	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.I216T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						ctgtggctggATGCCATGGGT	0.577																																						uc002bai.2																			1	Substitution - Missense(1)		kidney(1)	skin(3)|ovary(1)|lung(1)	5						c.(646-648)ATC>ACC		transcriptional co-repressor Sin3A							158.0	126.0	137.0					15																	75705213		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75705213A>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.647T>C	15.37:g.75705213A>G	ENSP00000378402:p.Ile216Thr					SIN3A_uc002baj.2_Missense_Mutation_p.I216T|SIN3A_uc010uml.1_Missense_Mutation_p.I216T	p.I216T	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			5	906	-			216	I -> T (in Ref. 3; BAC04801).		Interaction with REST (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.647T>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742275	0.30865	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.45276	0.9;0.9;0.9	6.04	6.04	0.98038	.	0.163485	0.56097	D	0.000040	T	0.39572	0.1083	L	0.56769	1.78	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.29119	-1.0022	10	0.11485	T	0.65	-12.8568	15.7575	0.78046	1.0:0.0:0.0:0.0	.	216	Q96ST3	SIN3A_HUMAN	T	216	ENSP00000378402:I216T;ENSP00000378403:I216T;ENSP00000353622:I216T	ENSP00000353622:I216T	I	-	2	0	SIN3A	73492266	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.960000	0.93117	2.317000	0.78254	0.459000	0.35465	ATC		0.577	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
DHX38	9785	broad.mit.edu	37	16	72130894	72130894	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr16:72130894G>A	ENST00000268482.3	+	3	1006	c.497G>A	c.(496-498)cGc>cAc	p.R166H	DHX38_ENST00000536867.1_Intron|TXNL4B_ENST00000426362.2_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	166					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GACTATGACCGCAAGAGGGAC	0.488																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2																			0				skin(1)	1						c.(496-498)CGC>CAC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							83.0	78.0	79.0					16																	72130894		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130894G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.497G>A	16.37:g.72130894G>A	ENSP00000268482:p.Arg166His					TXNL4B_uc010vmo.1_5'Flank|DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	p.R166H	NM_014003	NP_054722	Q92620	PRP16_HUMAN			3	852	+		Ovarian(137;0.125)	166					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.497G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592012	0.66219	.	.	ENSG00000140829	ENST00000268482	T	0.03468	3.92	5.12	5.12	0.69794	.	0.063428	0.64402	D	0.000006	T	0.17704	0.0425	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.00110	-1.2047	10	0.56958	D	0.05	.	17.1037	0.86656	0.0:0.0:1.0:0.0	.	166	Q92620	PRP16_HUMAN	H	166	ENSP00000268482:R166H	ENSP00000268482:R166H	R	+	2	0	DHX38	70688395	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.517000	0.73759	2.529000	0.85273	0.561000	0.74099	CGC		0.488	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
OR3A1	4994	broad.mit.edu	37	17	3195464	3195464	+	Missense_Mutation	SNP	C	C	T	rs143631940		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:3195464C>T	ENST00000323404.1	-	1	412	c.413G>A	c.(412-414)cGc>cAc	p.R138H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		21033	0.001		0.0	False		,,,				2504	0.0				GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			0				kidney(2)|central_nervous_system(1)	3						c.(412-414)CGC>CAC		olfactory receptor, family 3, subfamily A,		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	116.0	111.0	113.0		413	0.9	0.9	17	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR3A1	NM_002550.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	138/316	3195464	2,13004	2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195464C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.413G>A	17.37:g.3195464C>T	ENSP00000313803:p.Arg138His						p.R138H	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	413	-			138			Cytoplasmic (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.413G>A	CCDS11023.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.393	0.840240	0.16891	2.27E-4	1.16E-4	ENSG00000180090	ENST00000323404	T	0.00397	7.57	5.31	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.131866	0.35291	N	0.003317	T	0.00144	0.0004	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.36962	-0.9726	10	0.30854	T	0.27	-13.4225	3.982	0.09499	0.2805:0.4667:0.0:0.2528	.	138	P47881	OR3A1_HUMAN	H	138	ENSP00000313803:R138H	ENSP00000313803:R138H	R	-	2	0	OR3A1	3142214	0.000000	0.05858	0.923000	0.36655	0.826000	0.46750	-0.014000	0.12656	0.785000	0.33685	0.650000	0.86243	CGC		0.582	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron					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					uc002gyy.3																			24	Substitution - Missense(24)		kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)								c.(217-219)CGG>CTG		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				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						p.R73L							2	343	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
CALR3	125972	broad.mit.edu	37	19	16593572	16593572	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:16593572C>T	ENST00000269881.3	-	6	765	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	CALR3_ENST00000602234.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	235	4 X approximate repeats.|P-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGGTGCTGGCGTCCAGAAAA	0.498																																						uc002ned.2																			0					0						c.(703-705)GCC>ACC		calreticulin 3 precursor							45.0	41.0	43.0					19																	16593572		2203	4300	6503	SO:0001583	missense	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16593572C>T	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.703G>A	19.37:g.16593572C>T	ENSP00000269881:p.Ala235Thr					MED26_uc002nee.2_RNA	p.A235T	NM_145046	NP_659483	Q96L12	CALR3_HUMAN			6	766	-			235			4 X approximate repeats.|P-domain.|1-4.		D9N574|Q96LN3	Missense_Mutation	SNP	ENST00000269881.3	37	c.703G>A	CCDS12344.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919519	0.33908	.	.	ENSG00000141979	ENST00000269881;ENST00000409035	T	0.49139	0.79	5.07	2.95	0.34219	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.204155	0.46758	D	0.000269	T	0.28400	0.0702	N	0.20881	0.62	0.28218	N	0.926643	B	0.18863	0.031	B	0.14578	0.011	T	0.14254	-1.0479	10	0.56958	D	0.05	-24.4327	4.0603	0.09836	0.0:0.5621:0.1821:0.2557	.	235	Q96L12	CALR3_HUMAN	T	235;32	ENSP00000269881:A235T	ENSP00000269881:A235T	A	-	1	0	CALR3	16454572	1.000000	0.71417	0.680000	0.29994	0.478000	0.33099	2.813000	0.48002	1.146000	0.42352	-0.244000	0.11960	GCC		0.498	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046	
ZNF790	388536	broad.mit.edu	37	19	37310870	37310870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:37310870G>A	ENST00000356725.4	-	5	496	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTGAAACTGAGTGTTGCCT	0.383																																						uc002oew.2																			0				upper_aerodigestive_tract(1)|skin(1)	2						c.(376-378)CAG>TAG		zinc finger protein 790							131.0	127.0	128.0					19																	37310870		2203	4300	6503	SO:0001587	stop_gained	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310870G>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.376C>T	19.37:g.37310870G>A	ENSP00000349161:p.Gln126*					uc002oev.1_Intron	p.Q126*	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	495	-	Esophageal squamous(110;0.183)		126						Nonsense_Mutation	SNP	ENST00000356725.4	37	c.376C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716468	0.48622	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	.	.	.	3.08	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.3049	0.32036	0.0:0.2453:0.7547:0.0	.	.	.	.	X	126	.	ENSP00000349161:Q126X	Q	-	1	0	ZNF790	42002710	0.249000	0.23941	0.002000	0.10522	0.003000	0.03518	2.131000	0.42074	1.708000	0.51301	0.484000	0.47621	CAG		0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
SIGLEC6	946	broad.mit.edu	37	19	52033694	52033694	+	Missense_Mutation	SNP	C	C	T	rs201148057		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:52033694C>T	ENST00000425629.3	-	4	905	c.751G>A	c.(751-753)Gca>Aca	p.A251T	SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.A262T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.A240T|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.A251T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	251	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.A251T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTCCTACCTGCGCTGTTTCCT	0.562																																						uc002pwy.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(751-753)GCA>ACA		sialic acid binding Ig-like lectin 6 isoform 1		C	,THR/ALA,THR/ALA,THR/ALA,,THR/ALA	0,3996		0,0,1998	57.0	58.0	58.0		,784,718,751,,751	0.7	0.2	19		58	4,8364		0,4,4180	yes	intron,missense,missense,missense,intron,missense	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	,58,58,58,,58	0,4,6178	TT,TC,CC		0.0478,0.0,0.0324	,benign,benign,benign,,benign	,262/390,240/343,251/454,,251/354	52033694	4,12360	1998	4184	6182	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033694C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.751G>A	19.37:g.52033694C>T	ENSP00000401502:p.Ala251Thr					SIGLEC6_uc002pwz.2_Intron|SIGLEC6_uc002pxa.2_Missense_Mutation_p.A251T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.A229T|SIGLEC6_uc010epb.1_Missense_Mutation_p.A204T|SIGLEC6_uc010epa.1_Missense_Mutation_p.A240T	p.A251T	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	913	-		all_neural(266;0.0199)	251			Ig-like C2-type 2.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.751G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.443382	0.01089	0.0	4.78E-4	ENSG00000105492	ENST00000425629;ENST00000359982;ENST00000343300	T;T;T	0.46819	1.3;1.51;0.86	3.03	0.731	0.18277	Immunoglobulin-like (1);	1.520390	0.04750	N	0.424326	T	0.10121	0.0248	N	0.00098	-2.145	0.24851	N	0.992402	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40346	-0.9568	10	0.02654	T	1	.	2.4475	0.04509	0.236:0.1404:0.0:0.6236	.	262;240;251;251	F8WA78;O43699-4;O43699-2;O43699	.;.;.;SIGL6_HUMAN	T	251;262;251	ENSP00000401502:A251T;ENSP00000353071:A262T;ENSP00000345907:A251T	ENSP00000345907:A251T	A	-	1	0	SIGLEC6	56725506	0.175000	0.23083	0.226000	0.23910	0.007000	0.05969	0.052000	0.14163	-0.009000	0.14296	-1.772000	0.00662	GCA		0.562	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
ITGB1BP1	9270	broad.mit.edu	37	2	9547680	9547681	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:9547680_9547681delAC	ENST00000360635.3	-	7	1324_1325	c.428_429delGT	c.(427-429)tgtfs	p.C143fs	ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000456913.2_Frame_Shift_Del_p.C143fs|ITGB1BP1_ENST00000359712.3_Frame_Shift_Del_p.C143fs|ITGB1BP1_ENST00000355346.4_Frame_Shift_Del_p.C143fs|ITGB1BP1_ENST00000488451.1_Intron			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	143	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CGTCATCGTAACACACCATCCG	0.48																																						uc002qzj.2																			0					0						c.(427-429)TGTfs		integrin cytoplasmic domain-associated protein 1																																				SO:0001589	frameshift_variant	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding	g.chr2:9547680_9547681delAC	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"""integrin cytoplasmic domain-associated protein 1"", ""integrin cytoplasmic domain-associated protein 1-beta"", ""integrin cytoplasmic domain-associated protein 1-alpha"", ""bodenin"""	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.428_429delGT	2.37:g.9547684_9547685delAC	ENSP00000353850:p.Cys143fs					ITGB1BP1_uc002qzk.2_Intron|ITGB1BP1_uc002qzl.2_Intron|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs	p.C143fs	NM_004763	NP_004754	O14713	ITBP1_HUMAN		Epithelial(75;0.23)	6	605_606	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		143			PID.		D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	ENST00000360635.3	37	c.428_429delGT	CCDS1662.1																																																																																				0.480	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334	
OLA1	29789	broad.mit.edu	37	2	174945887	174945887	+	Missense_Mutation	SNP	G	G	C	rs369856909		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:174945887G>C	ENST00000409546.1	-	9	1649	c.1019C>G	c.(1018-1020)aCc>aGc	p.T340S	OLA1_ENST00000428402.2_Intron|OLA1_ENST00000344357.5_Missense_Mutation_p.T162S|OLA1_ENST00000284719.3_Missense_Mutation_p.T320S|OLA1_ENST00000392560.2_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TACCCTGATGGTCCATGCACG	0.418																																						uc002uih.2																			0				ovary(1)|breast(1)	2						c.(958-960)ACC>AGC		Obg-like ATPase 1 isoform 1							82.0	74.0	77.0					2																	174945887		2203	4299	6502	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:174945887G>C		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.1019C>G	2.37:g.174945887G>C	ENSP00000386350:p.Thr340Ser					OLA1_uc002uii.2_Missense_Mutation_p.T162S|OLA1_uc010fqq.2_Missense_Mutation_p.T299S|OLA1_uc002uij.2_Missense_Mutation_p.T162S|OLA1_uc002uik.2_Missense_Mutation_p.T290S|OLA1_uc010fqr.2_Intron	p.T320S	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			9	1145	-			320						Missense_Mutation	SNP	ENST00000409546.1	37	c.959C>G		.	.	.	.	.	.	.	.	.	.	G	18.32	3.598489	0.66332	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T;T	0.20200	2.09;2.09;2.09	6.07	6.07	0.98685	Domain of unknown function DUF933 (1);TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.88704	2.975	0.80722	D	1	P;D;P	0.57571	0.552;0.98;0.552	P;P;P	0.53102	0.594;0.718;0.594	T	0.55636	-0.8110	10	0.72032	D	0.01	-5.0604	20.6593	0.99626	0.0:0.0:1.0:0.0	.	320;162;320	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	S	320;162;340	ENSP00000284719:T320S;ENSP00000340167:T162S;ENSP00000386350:T340S	ENSP00000284719:T320S	T	-	2	0	OLA1	174654133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.885000	0.99019	0.655000	0.94253	ACC		0.418	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|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)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						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_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		Substrate.	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		
DEFB125	245938	broad.mit.edu	37	20	77035	77035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:77035C>T	ENST00000382410.2	+	2	448	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	150					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCACCTTCTCAGACAGCTCT	0.428																																						uc002wcw.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(448-450)CAG>TAG		defensin, beta 125 preproprotein							192.0	184.0	186.0					20																	77035		2203	4300	6503	SO:0001587	stop_gained	245938				defense response to bacterium	extracellular region		g.chr20:77035C>T	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.448C>T	20.37:g.77035C>T	ENSP00000371847:p.Gln150*						p.Q150*	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	448	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	150					A1A502|Q7Z7B9	Nonsense_Mutation	SNP	ENST00000382410.2	37	c.448C>T	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	4.946	0.175695	0.09391	.	.	ENSG00000178591	ENST00000382410	.	.	.	3.01	-3.54	0.04653	.	.	.	.	.	.	.	.	.	.	.	0.21527	N	0.99966	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.0755	0.06245	0.1399:0.3678:0.3714:0.121	.	.	.	.	X	150	.	ENSP00000371847:Q150X	Q	+	1	0	DEFB125	25035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.541000	0.06099	-0.753000	0.04721	-1.114000	0.02060	CAG		0.428	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325	
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	A	G	rs528685225	byFrequency	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S475S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527													A|||	5	0.000998403	0.003	0.0	5008	,	,		22125	0.0		0.0	False		,,,				2504	0.001					uc002wge.1																			2	Substitution - coding silent(2)		lung(1)|kidney(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1423-1425)AGT>AGC		zinc finger protein 343							113.0	95.0	101.0					20																	2464182		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464182A>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1425T>C	20.37:g.2464182A>G						ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	p.S475S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	1913	-			475			C2H2-type 8.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1425T>C	CCDS13028.1																																																																																				0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325	
CEP250	11190	broad.mit.edu	37	20	34084435	34084436	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:34084435_34084436delAG	ENST00000397527.1	+	25	3917_3918	c.3197_3198delAG	c.(3196-3198)cagfs	p.Q1066fs	CEP250_ENST00000342580.4_Frame_Shift_Del_p.Q1010fs	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1066	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAAGGAACAGAGACTCCTTG	0.48																																						uc002xcm.2																			0				ovary(4)|central_nervous_system(1)	5						c.(3196-3198)CAGfs		centrosomal protein 2																																				SO:0001589	frameshift_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34084435_34084436delAG	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3197_3198delAG	20.37:g.34084437_34084438delAG	ENSP00000380661:p.Gln1066fs					CEP250_uc010zve.1_Frame_Shift_Del_p.Q434fs	p.Q1066fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		26	3868_3869	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1066			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Frame_Shift_Del	DEL	ENST00000397527.1	37	c.3197_3198delAG	CCDS13255.1																																																																																				0.480	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
HMOX1	3162	broad.mit.edu	37	22	35783113	35783113	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:35783113G>A	ENST00000216117.8	+	3	919	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	194					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GATGACTCCCGCAGTCAGGCA	0.622																																						uc003ant.1																			0				ovary(1)	1						c.(580-582)GCA>ACA		heme oxygenase (decyclizing) 1	NADH(DB00157)						56.0	52.0	53.0					22																	35783113		2200	4298	6498	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35783113G>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.580G>A	22.37:g.35783113G>A	ENSP00000216117:p.Ala194Thr						p.A194T	NM_002133	NP_002124	P09601	HMOX1_HUMAN			3	660	+			194						Missense_Mutation	SNP	ENST00000216117.8	37	c.580G>A	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691537	0.15039	.	.	ENSG00000100292	ENST00000216117	T	0.23147	1.92	5.71	-0.0527	0.13821	Haem oxygenase-like, multi-helical (2);	0.632705	0.17084	N	0.187659	T	0.17959	0.0431	L	0.54323	1.7	0.09310	N	1	B	0.17852	0.024	B	0.08055	0.003	T	0.18335	-1.0340	10	0.33141	T	0.24	-3.6162	2.5472	0.04740	0.256:0.1145:0.5113:0.1182	.	194	P09601	HMOX1_HUMAN	T	194	ENSP00000216117:A194T	ENSP00000216117:A194T	A	+	1	0	HMOX1	34113113	0.912000	0.30974	0.000000	0.03702	0.003000	0.03518	1.881000	0.39638	-0.118000	0.11851	-0.122000	0.15005	GCA		0.622	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1		
MYH9	4627	broad.mit.edu	37	22	36745230	36745232	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:36745230_36745232delTGA	ENST00000216181.5	-	2	280_282	c.50_52delTCA	c.(49-54)atcaac>aac	p.I17del	MYH9_ENST00000401701.1_In_Frame_Del_p.I17del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	17					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						AGCGGATTGTTGATGAAGTTTTT	0.542			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				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				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(49-54)ATCAAC>AAC		myosin, heavy polypeptide 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.chr22:36745230_36745232delTGA		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.50_52delTCA	22.37:g.36745233_36745235delTGA	ENSP00000216181:p.Ile17del					MYH9_uc003api.1_In_Frame_Del_p.I17del	p.I17del	NM_002473	NP_002464	P35579	MYH9_HUMAN			2	281_283	-			17			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.50_52delTCA	CCDS13927.1																																																																																				0.542	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
PROS1	5627	broad.mit.edu	37	3	93611922	93611922	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:93611922A>G	ENST00000394236.3	-	10	1326	c.1010T>C	c.(1009-1011)gTg>gCg	p.V337A	PROS1_ENST00000407433.1_Missense_Mutation_p.V206A	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	337	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTACAGTATCACGCCTTCTGA	0.398																																						uc003drb.3																			0				large_intestine(1)	1						c.(1009-1011)GTG>GCG		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						73.0	68.0	70.0					3																	93611922		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611922A>G		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1010T>C	3.37:g.93611922A>G	ENSP00000377783:p.Val337Ala					PROS1_uc010hoo.2_Missense_Mutation_p.V206A|PROS1_uc003dqz.3_Missense_Mutation_p.V206A	p.V337A	NM_000313	NP_000304	P07225	PROS_HUMAN			10	1351	-			337			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.1010T>C	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097470	0.56075	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.81739	-1.53;-1.53	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.277488	0.33591	N	0.004752	D	0.83175	0.5197	M	0.84846	2.72	0.34507	D	0.706661	P	0.43938	0.822	B	0.42112	0.376	D	0.90689	0.4611	10	0.72032	D	0.01	.	13.9186	0.63916	1.0:0.0:0.0:0.0	.	337	P07225	PROS_HUMAN	A	337;206	ENSP00000377783:V337A;ENSP00000385794:V206A	ENSP00000377783:V337A	V	-	2	0	PROS1	95094612	0.949000	0.32298	0.990000	0.47175	0.242000	0.25591	8.507000	0.90522	1.886000	0.54624	0.477000	0.44152	GTG		0.398	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
C3orf22	152065	broad.mit.edu	37	3	126268815	126268815	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:126268815G>A	ENST00000318225.2	-	4	700	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	108										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GGGAAGCGGCGACTCAGCAAC	0.632																																						uc003ejb.2																			0					0						c.(322-324)CGC>TGC		hypothetical protein LOC152065							144.0	121.0	128.0					3																	126268815		2203	4300	6503	SO:0001583	missense	152065							g.chr3:126268815G>A		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.322C>T	3.37:g.126268815G>A	ENSP00000316644:p.Arg108Cys						p.R108C	NM_152533	NP_689746	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	4	651	-			108					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.322C>T	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223064	0.39300	.	.	ENSG00000180697	ENST00000318225	.	.	.	2.71	0.754	0.18410	.	1.252330	0.06138	N	0.671845	T	0.28732	0.0712	L	0.27053	0.805	0.09310	N	1	B	0.18310	0.027	B	0.06405	0.002	T	0.29488	-1.0010	9	0.62326	D	0.03	-1.8535	4.4737	0.11724	0.3635:0.0:0.6365:0.0	.	108	Q8N5N4	CC022_HUMAN	C	108	.	ENSP00000316644:R108C	R	-	1	0	C3orf22	127751505	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.051000	0.11885	0.178000	0.19917	-0.643000	0.03959	CGC		0.632	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533	
CHST2	9435	broad.mit.edu	37	3	142841108	142841108	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:142841108C>T	ENST00000309575.3	+	2	2834	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	484					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAATGCCTGGCGGACCGCCCT	0.607																																						uc003evm.2																			0				ovary(3)	3						c.(1450-1452)CGG>TGG		carbohydrate (N-acetylglucosamine-6-O)							56.0	59.0	58.0					3																	142841108		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142841108C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1450C>T	3.37:g.142841108C>T	ENSP00000307911:p.Arg484Trp						p.R484W	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	2339	+			484			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1450C>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457884	0.63401	.	.	ENSG00000175040	ENST00000309575	D	0.84370	-1.84	4.61	2.57	0.30868	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.91354	3.2	0.50467	D	0.999879	D	0.89917	1.0	D	0.78314	0.991	D	0.93094	0.6502	10	0.87932	D	0	-14.5726	10.9023	0.47059	0.5962:0.4038:0.0:0.0	.	484	Q9Y4C5	CHST2_HUMAN	W	484	ENSP00000307911:R484W	ENSP00000307911:R484W	R	+	1	2	CHST2	144323798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.485000	0.53208	1.102000	0.41551	0.514000	0.50259	CGG		0.607	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267	
ZNF721	170960	broad.mit.edu	37	4	437518	437518	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:437518C>G	ENST00000338977.5	-	2	750	c.702G>C	c.(700-702)gaG>gaC	p.E234D	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E246D|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTAGGGTTTCTCTCCAGTAT	0.368																																						uc003gag.2																			0				ovary(1)	1						c.(736-738)GAG>GAC		zinc finger protein 721							51.0	55.0	53.0					4																	437518		2131	4254	6385	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:437518C>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.702G>C	4.37:g.437518C>G	ENSP00000340524:p.Glu234Asp					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.E278D|ZNF721_uc010ibe.2_Missense_Mutation_p.E234D	p.E246D	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	1429	-			246					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.738G>C		.	.	.	.	.	.	.	.	.	.	C	13.44	2.238345	0.39598	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.26810	1.71;1.71	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16385	0.0394	L	0.31294	0.92	0.21064	N	0.999791	B;B;B	0.14805	0.011;0.0;0.0	B;B;B	0.17722	0.019;0.002;0.001	T	0.24512	-1.0158	9	0.56958	D	0.05	.	3.6995	0.08378	0.0:0.7326:0.0:0.2674	.	234;246;246	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	234;246	ENSP00000340524:E234D;ENSP00000428878:E246D	ENSP00000340524:E234D	E	-	3	2	ZNF721	427518	0.143000	0.22626	0.004000	0.12327	0.007000	0.05969	0.205000	0.17356	0.677000	0.31305	0.194000	0.17425	GAG		0.368	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
FAM193A	8603	broad.mit.edu	37	4	2661629	2661629	+	Silent	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:2661629C>T	ENST00000324666.5	+	8	1071	c.720C>T	c.(718-720)ctC>ctT	p.L240L	FAM193A_ENST00000502458.1_Silent_p.L264L|FAM193A_ENST00000545951.1_Silent_p.L240L|FAM193A_ENST00000505311.1_Silent_p.L240L|FAM193A_ENST00000382839.3_Silent_p.L240L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	240										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTCACCAGCTCCCACTTCAAG	0.562																																						uc010icl.2																			0				ovary(3)	3						c.(718-720)CTC>CTT		hypothetical protein LOC8603							145.0	124.0	131.0					4																	2661629		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2661629C>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.720C>T	4.37:g.2661629C>T						FAM193A_uc010ick.2_Silent_p.L440L|FAM193A_uc003gfd.2_Silent_p.L240L|FAM193A_uc011bvm.1_Silent_p.L264L|FAM193A_uc011bvn.1_Silent_p.L240L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.L94L	p.L240L	NM_003704	NP_003695	P78312	F193A_HUMAN			8	1071	+			240					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.720C>T	CCDS58875.1																																																																																				0.562	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
ZNF518B	85460	broad.mit.edu	37	4	10446518	10446518	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:10446518C>T	ENST00000326756.3	-	3	1873	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	479					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTAAGGCAACGGAAGGAAAA	0.348																																						uc003gmn.2																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1435-1437)GTT>ATT		zinc finger protein 518B							69.0	73.0	72.0					4																	10446518		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10446518C>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1435G>A	4.37:g.10446518C>T	ENSP00000317614:p.Val479Ile						p.V479I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	1922	-			479					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.1435G>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	9.055	0.993147	0.19043	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	5.43	-10.9	0.00192	.	3.129350	0.00988	N	0.003480	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38950	-0.9637	10	0.17832	T	0.49	0.0151	6.0942	0.20010	0.1784:0.3061:0.4396:0.0759	.	479	Q9C0D4	Z518B_HUMAN	I	479	ENSP00000317614:V479I	ENSP00000317614:V479I	V	-	1	0	ZNF518B	10055616	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-3.738000	0.00379	-4.133000	0.00071	-0.961000	0.02630	GTT		0.348	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
EXOC1	55763	broad.mit.edu	37	4	56750010	56750010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:56750010C>T	ENST00000381295.2	+	10	1594	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	RNU6-652P_ENST00000365488.1_RNA|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.R416*|EXOC1_ENST00000346134.7_Nonsense_Mutation_p.R416*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	416					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTATTTATCCCGACTATATGA	0.299																																						uc003hbe.1																			0				ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(1246-1248)CGA>TGA		exocyst complex component 1 isoform 1							43.0	45.0	44.0					4																	56750010		2203	4298	6501	SO:0001587	stop_gained	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56750010C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1246C>T	4.37:g.56750010C>T	ENSP00000370695:p.Arg416*					EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*	p.R416*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			10	1404	+	Glioma(25;0.08)|all_neural(26;0.101)		416					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Nonsense_Mutation	SNP	ENST00000381295.2	37	c.1246C>T	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	C	42	9.594888	0.99214	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.91	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	17.8119	0.88619	0.1303:0.8697:0.0:0.0	.	.	.	.	X	416	.	ENSP00000326514:R416X	R	+	1	2	EXOC1	56444767	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.795000	0.47861	2.805000	0.96524	0.460000	0.39030	CGA		0.299	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
PIK3R1	5295	broad.mit.edu	37	5	67591126	67591127	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:67591126_67591127delGA	ENST00000521381.1	+	13	2335_2336	c.1719_1720delGA	c.(1717-1722)ctgagafs	p.R574fs	PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.R574fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.R574fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.R274fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.R304fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.R574fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.R211fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	574					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R574_T576del(2)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTATCCAGCTGAGAAAGACGAG	0.381			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		5	Deletion - In frame(3)|Whole gene deletion(1)|Unknown(1)	p.R574_T576del(2)|p.L570_D578del(1)|p.?(1)	endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1717-1722)CTGAGAfs		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001589	frameshift_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591126_67591127delGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1719_1720delGA	5.37:g.67591128_67591129delGA	ENSP00000428056:p.Arg574fs	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Frame_Shift_Del_p.L573fs|PIK3R1_uc003jvc.2_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.2_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.2_Frame_Shift_Del_p.L252fs|PIK3R1_uc011crb.1_Frame_Shift_Del_p.L243fs	p.L573fs	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2279_2280	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	573_574					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Frame_Shift_Del	DEL	ENST00000521381.1	37	c.1719_1720delGA	CCDS3993.1																																																																																				0.381	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
SLC12A2	6558	broad.mit.edu	37	5	127420118	127420118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:127420118G>C	ENST00000262461.2	+	1	661	c.472G>C	c.(472-474)Gat>Cat	p.D158H	CTC-228N24.3_ENST00000501702.2_lincRNA|SLC12A2_ENST00000343225.4_Missense_Mutation_p.D158H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	158					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CAGCCTGTCAGATGCTGCCGG	0.692																																						uc003kus.2																			0				ovary(3)	3						c.(472-474)GAT>CAT		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						24.0	23.0	23.0					5																	127420118		2199	4300	6499	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127420118G>C		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.472G>C	5.37:g.127420118G>C	ENSP00000262461:p.Asp158His					FLJ33630_uc003kun.2_5'Flank|FLJ33630_uc003kuo.2_5'Flank|FLJ33630_uc003kup.1_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.2_5'Flank|SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.D158H	p.D158H	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	1	636	+		all_cancers(142;0.0972)|Prostate(80;0.151)	158			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.472G>C	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108071	0.37242	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86297	-2.09;-2.1	3.69	2.82	0.32997	.	0.435017	0.20757	N	0.086230	T	0.78666	0.4319	L	0.29908	0.895	0.37659	D	0.922695	B;P	0.38863	0.372;0.65	B;B	0.38755	0.281;0.19	T	0.78420	-0.2211	10	0.62326	D	0.03	.	7.4841	0.27421	0.2291:0.0:0.7709:0.0	.	158;158	P55011-3;P55011	.;S12A2_HUMAN	H	158	ENSP00000262461:D158H;ENSP00000340878:D158H	ENSP00000262461:D158H	D	+	1	0	SLC12A2	127448017	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	2.627000	0.46469	0.880000	0.35969	0.467000	0.42956	GAT		0.692	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						uc003lhx.2																			2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(2)|skin(2)|breast(1)	5						c.(1615-1617)GGG>GCG		protocadherin alpha 10 isoform 1 precursor							53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A	p.G539A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+			539			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
MYOZ3	91977	broad.mit.edu	37	5	150050115	150050115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:150050115G>A	ENST00000297130.4	+	3	330	c.131G>A	c.(130-132)cGc>cAc	p.R44H	MYOZ3_ENST00000517768.1_Missense_Mutation_p.R44H|CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000520112.1_5'Flank	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCACTACGCAACAACAGA	0.612																																						uc003lss.2																			0				skin(1)	1						c.(130-132)CGC>CAC		myozenin 3							58.0	44.0	49.0					5																	150050115		2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150050115G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"""calsarcin 3"", ""FATZ related protein 3"""	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.131G>A	5.37:g.150050115G>A	ENSP00000297130:p.Arg44His					MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	p.R44H	NM_001122853	NP_001116325	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	718	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	44						Missense_Mutation	SNP	ENST00000297130.4	37	c.131G>A	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079772	0.55753	.	.	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.64085	-0.08;-0.08	4.74	4.74	0.60224	.	0.110971	0.38720	N	0.001591	T	0.64627	0.2615	L	0.60455	1.87	0.09310	N	0.999996	D	0.58620	0.983	P	0.53490	0.727	T	0.56329	-0.7997	10	0.13853	T	0.58	-26.6191	11.5347	0.50631	0.0:0.181:0.819:0.0	.	44	Q8TDC0	MYOZ3_HUMAN	H	44	ENSP00000428815:R44H;ENSP00000297130:R44H	ENSP00000297130:R44H	R	+	2	0	MYOZ3	150030308	0.000000	0.05858	0.687000	0.30102	0.961000	0.63080	0.002000	0.13061	2.335000	0.79485	0.555000	0.69702	CGC		0.612	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853	
PSMB8	5696	broad.mit.edu	37	6	32809494	32809494	+	Missense_Mutation	SNP	C	C	T	rs78945358	byFrequency	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:32809494C>T	ENST00000374882.3	-	5	606	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TAP2_ENST00000452392.2_5'Flank|TAP2_ENST00000374897.2_5'Flank|PSMB8_ENST00000374881.2_Missense_Mutation_p.V182M|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000395339.3_Missense_Mutation_p.V162M|TAP2_ENST00000374899.4_5'Flank|PSMB9_ENST00000395330.1_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TGTTCATCCACGTAGTAGAGT	0.463													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19678	0.002		0.0	False		,,,				2504	0.0				NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2																			0				skin(1)	1						c.(556-558)GTG>ATG		proteasome beta 8 subunit isoform E2 proprotein							121.0	136.0	131.0					6																	32809494		1510	2708	4218	SO:0001583	missense	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32809494C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.556G>A	6.37:g.32809494C>T	ENSP00000364016:p.Val186Met					TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.V182M	p.V186M	NM_148919	NP_683720	P28062	PSB8_HUMAN			5	599	-			186					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.556G>A	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610218	0.87258	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.25414	1.8;1.8;1.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.979;0.988	T	0.67126	-0.5749	10	0.87932	D	0	-29.3793	15.9037	0.79403	0.0:1.0:0.0:0.0	.	182;186	P28062-2;P28062	.;PSB8_HUMAN	M	162;186;182	ENSP00000378748:V162M;ENSP00000364016:V186M;ENSP00000364015:V182M	ENSP00000364015:V182M	V	-	1	0	PSMB8	32917472	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	5.208000	0.65203	2.335000	0.79485	0.643000	0.83706	GTG		0.463	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919	
CCND3	896	broad.mit.edu	37	6	41903737	41903738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:41903737_41903738insG	ENST00000372991.4	-	5	1017_1018	c.819_820insC	c.(817-822)tccagcfs	p.S274fs	CCND3_ENST00000511642.1_Frame_Shift_Ins_p.S193fs|CCND3_ENST00000510503.1_Frame_Shift_Ins_p.Q147fs|CCND3_ENST00000414200.2_Frame_Shift_Ins_p.S202fs|CCND3_ENST00000372987.4_Frame_Shift_Ins_p.S224fs|CCND3_ENST00000415497.2_Frame_Shift_Ins_p.S78fs|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000372988.4_Frame_Shift_Ins_p.S193fs	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	274					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTGGCTGCTGGAGCCCCGGG	0.649			T	IGH@	MM																																	uc003orn.2				Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0					0						c.(817-822)TCCAGCfs		cyclin D3 isoform 2																																				SO:0001589	frameshift_variant	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41903737_41903738insG		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.820dupC	6.37:g.41903739_41903739dupG	ENSP00000362082:p.Ser274fs					CCND3_uc003orp.2_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.1_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.2_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.2_Frame_Shift_Ins_p.S201fs	p.S273fs	NM_001760	NP_001751	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	984_985	-	Colorectal(47;0.121)		273_274					B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Frame_Shift_Ins	INS	ENST00000372991.4	37	c.819_820insC	CCDS4863.1																																																																																				0.649	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2	NM_001760	
FABP7	2173	broad.mit.edu	37	6	123101455	123101455	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:123101455G>A	ENST00000368444.3	+	2	413	c.93G>A	c.(91-93)agG>agA	p.R31R	FABP7_ENST00000356535.4_Silent_p.R31R	NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	31					cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	TTGCCACTAGGCAGGTGGGAA	0.448																																						uc003pzf.2																			0					0						c.(91-93)AGG>AGA		fatty acid binding protein 7, brain	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)						81.0	77.0	78.0					6																	123101455		2203	4300	6503	SO:0001819	synonymous_variant	2173				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity	g.chr6:123101455G>A	D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.93G>A	6.37:g.123101455G>A						FABP7_uc003pzd.2_Silent_p.R31R|FABP7_uc003pze.1_Silent_p.R31R	p.R31R	NM_001446	NP_001437	O15540	FABP7_HUMAN		GBM - Glioblastoma multiforme(226;0.226)	2	387	+			31					B2R4L1|O14951|Q6IAU7|Q9H047	Silent	SNP	ENST00000368444.3	37	c.93G>A	CCDS5127.1																																																																																				0.448	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446	
DYNC1I1	1780	broad.mit.edu	37	7	95657586	95657586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr7:95657586C>T	ENST00000324972.6	+	11	1313	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	DYNC1I1_ENST00000457059.1_Nonsense_Mutation_p.R357*|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.R354*|DYNC1I1_ENST00000537881.1_Nonsense_Mutation_p.R337*|DYNC1I1_ENST00000447467.2_Nonsense_Mutation_p.R357*|DYNC1I1_ENST00000359388.4_Nonsense_Mutation_p.R337*	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	374					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCGCAGTCATCGAAGGACTCC	0.547																																						uc003uoc.3																			0				ovary(3)|kidney(1)	4						c.(1120-1122)CGA>TGA		dynein, cytoplasmic 1, intermediate chain 1							174.0	148.0	157.0					7																	95657586		2203	4300	6503	SO:0001587	stop_gained	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95657586C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1120C>T	7.37:g.95657586C>T	ENSP00000320130:p.Arg374*					DYNC1I1_uc003uod.3_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.2_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.3_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.2_Nonsense_Mutation_p.R363*	p.R374*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		11	1397	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		374			WD 2.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Nonsense_Mutation	SNP	ENST00000324972.6	37	c.1120C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529443	0.85706	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	.	.	.	5.04	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-8.5713	12.1078	0.53821	0.4699:0.5301:0.0:0.0	.	.	.	.	X	357;374;337;354;337;357	.	ENSP00000320130:R374X	R	+	1	2	DYNC1I1	95495522	0.998000	0.40836	1.000000	0.80357	0.615000	0.37417	1.364000	0.34171	1.479000	0.48272	0.585000	0.79938	CGA		0.547	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
JPH1	56704	broad.mit.edu	37	8	75156952	75156952	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr8:75156952A>G	ENST00000342232.4	-	4	1757	c.1717T>C	c.(1717-1719)Tcc>Ccc	p.S573P	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	573					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GACTGGCTGGATCCATCGCCG	0.552																																						uc003yae.2																			0				ovary(1)	1						c.(1717-1719)TCC>CCC		junctophilin 1							138.0	129.0	132.0					8																	75156952		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75156952A>G	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1717T>C	8.37:g.75156952A>G	ENSP00000344488:p.Ser573Pro					JPH1_uc003yaf.2_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	p.S573P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1757	-	Breast(64;0.00576)		573			Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1717T>C	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	A	9.889	1.203695	0.22121	.	.	ENSG00000104369	ENST00000342232	T	0.57752	0.38	5.38	-7.51	0.01346	.	1.449530	0.05134	N	0.493170	T	0.24699	0.0599	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09930	-1.0652	10	0.20519	T	0.43	.	1.2139	0.01910	0.2053:0.2577:0.3156:0.2214	.	573	Q9HDC5	JPH1_HUMAN	P	573	ENSP00000344488:S573P	ENSP00000344488:S573P	S	-	1	0	JPH1	75319506	0.000000	0.05858	0.000000	0.03702	0.979000	0.70002	0.554000	0.23407	-1.015000	0.03375	0.533000	0.62120	TCC		0.552	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
P2RY8	286530	broad.mit.edu	37	X	1584564	1584564	+	Silent	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:1584564C>T	ENST00000381297.4	-	2	1098	c.888G>A	c.(886-888)gcG>gcA	p.A296A	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTCCCGGGACGCAAAGTAAT	0.602			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		0				lung(5)	5						c.(886-888)GCG>GCA		G-protein coupled purinergic receptor P2Y8							100.0	101.0	101.0					X																	1584564		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584564C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.888G>A	X.37:g.1584564C>T							p.A296A	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	1136	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	296			Helical; Name=7; (Potential).			Silent	SNP	ENST00000381297.4	37	c.888G>A	CCDS14115.1																																																																																				0.602	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E886fs*18(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		2	Unknown(1)|Deletion - Frameshift(1)		central_nervous_system(1)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(2656-2661)GAGACTfs		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938089_76938092delTCTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2656_2659delGAGA	X.37:g.76938093_76938096delTCTC	ENSP00000362441:p.Glu886fs					ATRX_uc004ecq.3_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.3_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	p.E886fs	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	2888_2891	-			886_887					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2656_2659delGAGA	CCDS14434.1																																																																																				0.412	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
