#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KLHL20	27252	broad.mit.edu	37	1	173721044	173721044	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:173721044C>A	ENST00000209884.4	+	4	875	c.739C>A	c.(739-741)Cgt>Agt	p.R247S	KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	247	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCAGGAAAGACGTCCTCAATT	0.443																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(739-741)Cgt>Agt		kelch-like family member 20							86.0	78.0	81.0					1																	173721044		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173721044C>A	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.739C>A	1.37:g.173721044C>A	ENSP00000209884:p.Arg247Ser		Somatic				KLHL20_ENST00000546011.1_Missense_Mutation_p.R58S	p.R247S	NM_014458.3	NP_055273.2	WXS	Illumina GAIIx	Phase_I	Q9Y2M5	KLH20_HUMAN			4	875	+			247			BACK.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.739C>A	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464570	0.63513	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.68479	-0.33;-0.33	5.38	4.46	0.54185	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.62429	0.2427	L	0.52011	1.625	0.80722	D	1	P;D	0.60575	0.902;0.988	P;P	0.58013	0.557;0.831	T	0.63585	-0.6604	10	0.38643	T	0.18	.	11.8165	0.52214	0.4363:0.5637:0.0:0.0	.	58;247	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	58;247	ENSP00000443121:R58S;ENSP00000209884:R247S	ENSP00000209884:R247S	R	+	1	0	KLHL20	171987667	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	0.938000	0.28965	1.231000	0.43661	0.591000	0.81541	CGT		0.443	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		13	26	13	26	---	---	---	---
CD34	947	broad.mit.edu	37	1	208062058	208062058	+	Missense_Mutation	SNP	C	C	T	rs146542924		TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:208062058C>T	ENST00000310833.7	-	7	1262	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.R156H|CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000356522.4_Missense_Mutation_p.R314H	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	314					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCAGCTGCGGCGATTCATCAG	0.562																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(940-942)cGc>cAc		CD34 molecule		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	201.0	218.0	212.0		941,941	4.5	1.0	1	dbSNP_134	212	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CD34	NM_001025109.1,NM_001773.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	314/386,314/329	208062058	1,13005	2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062058C>T	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.941G>A	1.37:g.208062058C>T	ENSP00000310036:p.Arg314His		Somatic				CD34_ENST00000537704.1_Missense_Mutation_p.R179H|CD34_ENST00000310833.7_Missense_Mutation_p.R314H|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.R156H	p.R314H	NM_001773.2	NP_001764.1	WXS	Illumina GAIIx	Phase_I	P28906	CD34_HUMAN			7	1262	-			314					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.941G>A	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605709	0.87157	0.0	1.16E-4	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.54	4.54	0.55810	.	0.125644	0.56097	D	0.000035	T	0.68247	0.2980	L	0.61036	1.89	0.49483	D	0.999791	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.71101	-0.4690	10	0.87932	D	0	-10.7555	13.0066	0.58707	0.0:1.0:0.0:0.0	.	179;314;314;156	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	H	314;314;156;179;284	ENSP00000310036:R314H;ENSP00000348916:R314H;ENSP00000356003:R156H;ENSP00000442874:R179H	ENSP00000310036:R314H	R	-	2	0	CD34	206128681	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	CGC		0.562	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		85	104	85	104	---	---	---	---
RAB4A	5867	broad.mit.edu	37	1	229431652	229431652	+	Silent	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr1:229431652C>T	ENST00000366690.4	+	4	493	c.285C>T	c.(283-285)atC>atT	p.I95I	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	95					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TCTATGATATCACCAGGTAAT	0.562																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(283-285)atC>atT		RAB4A, member RAS oncogene family							63.0	59.0	60.0					1																	229431652		2203	4300	6503	SO:0001819	synonymous_variant	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229431652C>T	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.285C>T	1.37:g.229431652C>T			Somatic				RAB4A_ENST00000473894.1_3'UTR	p.I95I	NM_004578.2	NP_004569.2	WXS	Illumina GAIIx	Phase_I	P20338	RAB4A_HUMAN			4	493	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	90					Q5T7P7|Q9BQ44	Silent	SNP	ENST00000366690.4	37	c.285C>T	CCDS31050.1																																																																																				0.562	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	NM_004578		16	25	16	25	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37367122	37367122	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:37367122A>G	ENST00000361924.2	+	14	4119	c.3745A>G	c.(3745-3747)Agg>Ggg	p.R1249G	GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1249	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATTCTTTCTAGGATTTCTCA	0.348																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3745-3747)Agg>Ggg		golgin A4							90.0	93.0	92.0					3																	37367122		2203	4299	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367122A>G	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3745A>G	3.37:g.37367122A>G	ENSP00000354486:p.Arg1249Gly		Somatic				GOLGA4_ENST00000356847.4_Missense_Mutation_p.R1271G|GOLGA4_ENST00000444882.1_Intron	p.R1249G	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			14	4119	+			1249			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3745A>G	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300451	0.60195	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.27890	1.65;1.64;1.65	5.53	4.34	0.51931	.	0.000000	0.40222	N	0.001147	T	0.41719	0.1171	L	0.32530	0.975	0.30405	N	0.779633	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.83275	0.996;0.996;0.996;0.738	T	0.36383	-0.9750	10	0.27785	T	0.31	.	12.5727	0.56347	0.861:0.139:0.0:0.0	.	1249;1249;1271;1249	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	G	1249;1271;1120	ENSP00000354486:R1249G;ENSP00000349305:R1271G;ENSP00000405842:R1120G	ENSP00000349305:R1271G	R	+	1	2	GOLGA4	37342126	1.000000	0.71417	0.906000	0.35671	0.988000	0.76386	4.841000	0.62824	0.898000	0.36418	0.460000	0.39030	AGG		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		30	46	30	46	---	---	---	---
TFG	10342	broad.mit.edu	37	3	100447586	100447586	+	Missense_Mutation	SNP	G	G	C	rs77118429	byFrequency	TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr3:100447586G>C	ENST00000240851.4	+	4	639	c.299G>C	c.(298-300)aGt>aCt	p.S100T	TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T|TFG_ENST00000476228.1_Missense_Mutation_p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	100					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CTTGAATCAAGTCAGGTGAAA	0.368			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000240851.4				Dom	yes		3	3q11-q12	10342	T	TRK-fused gene			"""E, L"""	"""NTRK1, ALK"""		"""papillary thyroid, ALCL, NSCLC"""	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	0				large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						c.(298-300)aGt>aCt		TRK-fused gene							69.0	70.0	70.0					3																	100447586		2203	4300	6503	SO:0001583	missense	10342				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	g.chr3:100447586G>C	BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.299G>C	3.37:g.100447586G>C	ENSP00000240851:p.Ser100Thr		Somatic				TFG_ENST00000476228.1_Missense_Mutation_p.S100T|TFG_ENST00000418917.2_Missense_Mutation_p.S100T|TFG_ENST00000490574.1_Missense_Mutation_p.S100T	p.S100T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	WXS	Illumina GAIIx	Phase_I	Q92734	TFG_HUMAN			4	639	+			100					D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	ENST00000240851.4	37	c.299G>C	CCDS2939.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443292	0.43429	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.05	5.05	0.67936	.	0.202993	0.64402	D	0.000012	T	0.29061	0.0722	L	0.55481	1.735	0.42527	D	0.993022	P;P	0.37330	0.59;0.455	B;B	0.29176	0.099;0.068	T	0.10823	-1.0613	10	0.06494	T	0.89	-12.0634	10.1066	0.42537	0.1258:0.0:0.8742:0.0	.	100;100	G5E9V1;Q92734	.;TFG_HUMAN	T	100	ENSP00000397182:S100T;ENSP00000419960:S100T;ENSP00000240851:S100T;ENSP00000419559:S100T;ENSP00000417952:S100T;ENSP00000419504:S100T;ENSP00000420797:S100T	ENSP00000240851:S100T	S	+	2	0	TFG	101930276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.664000	0.54525	2.470000	0.83445	0.655000	0.94253	AGT		0.368	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353242.1	NM_006070		45	40	45	40	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26902661	26902661	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:26902661C>A	ENST00000231021.4	-	7	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	393	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACATCTTCATCTACTTCTATC	0.378																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1177-1179)Gat>Tat		cadherin 9, type 2 (T1-cadherin)							128.0	121.0	123.0					5																	26902661		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902661C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1177G>T	5.37:g.26902661C>A	ENSP00000231021:p.Asp393Tyr		Somatic					p.D393Y	NM_016279.3	NP_057363.3	WXS	Illumina GAIIx	Phase_I	Q9ULB4	CADH9_HUMAN			7	1349	-			393			Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1177G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	3.449	-0.112372	0.06881	.	.	ENSG00000113100	ENST00000231021	T	0.52295	0.67	5.62	4.7	0.59300	Cadherin (3);Cadherin-like (1);	0.268636	0.40064	N	0.001181	T	0.33556	0.0867	N	0.24115	0.695	0.50171	D	0.999852	B	0.02656	0.0	B	0.11329	0.006	T	0.08638	-1.0712	9	.	.	.	.	14.7549	0.69557	0.0:0.8547:0.1453:0.0	.	393	Q9ULB4	CADH9_HUMAN	Y	393	ENSP00000231021:D393Y	.	D	-	1	0	CDH9	26938418	0.311000	0.24536	0.976000	0.42696	0.931000	0.56810	0.746000	0.26275	2.648000	0.89879	0.650000	0.86243	GAT		0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	70	5	70	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31318075	31318075	+	Intron	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr5:31318075C>T	ENST00000265071.2	+	11	2147				CDH6_ENST00000514738.1_Silent_p.G587G	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522																																						ENST00000514738.1																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1759-1761)ggC>ggT		cadherin 6, type 2, K-cadherin (fetal kidney)							57.0	59.0	58.0					5																	31318075		2200	4292	6492	SO:0001627	intron_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31318075C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1882+44C>T	5.37:g.31318075C>T			Somatic				CDH6_ENST00000265071.2_Intron	p.G587G			WXS	Illumina GAIIx	Phase_I	P55285	CADH6_HUMAN			11	2191	+			0			Cadherin 5.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1761C>T	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		20	21	20	21	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66115238	66115238	+	Silent	SNP	T	T	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr6:66115238T>G	ENST00000370621.3	-	6	1411	c.885A>C	c.(883-885)gcA>gcC	p.A295A	EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000393380.2_Silent_p.A295A|EYS_ENST00000503581.1_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	295					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CACAAGGTTTTGCTGACACCT	0.363																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(883-885)gcA>gcC		eyes shut homolog (Drosophila)							120.0	124.0	123.0					6																	66115238		2203	4300	6503	SO:0001819	synonymous_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66115238T>G		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.885A>C	6.37:g.66115238T>G			Somatic				EYS_ENST00000393380.2_Silent_p.A295A|EYS_ENST00000342421.5_Silent_p.A295A|EYS_ENST00000370621.3_Silent_p.A295A|EYS_ENST00000370616.2_Silent_p.A295A|EYS_ENST00000370618.3_Silent_p.A295A	p.A295A	NM_001142800.1	NP_001136272.1	WXS	Illumina GAIIx	Phase_I	Q5T1H1	EYS_HUMAN			6	1422	-			295					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37	c.885A>C																																																																																					0.363	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		56	65	56	65	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44611159	44611159	+	Silent	SNP	T	T	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:44611159T>C	ENST00000258772.5	-	6	928	c.822A>G	c.(820-822)ctA>ctG	p.L274L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L274L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	274	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGAACAGGCGTAGCCGGTAAC	0.512																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(820-822)ctA>ctG		DEAD (Asp-Glu-Ala-Asp) box helicase 56							84.0	76.0	79.0					7																	44611159		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611159T>C	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.822A>G	7.37:g.44611159T>C			Somatic				DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.L274L	p.L274L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	WXS	Illumina GAIIx	Phase_I	Q9NY93	DDX56_HUMAN			6	928	-			274			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.822A>G	CCDS5492.1																																																																																				0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		17	35	17	35	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151877201	151877201	+	Nonsense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr7:151877201A>C	ENST00000262189.6	-	37	7378	c.7160T>G	c.(7159-7161)tTa>tGa	p.L2387*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.L2387*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2387					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATTTCACGTAACTTCTGCCG	0.443																																						ENST00000355193.2																			0											c.(7159-7161)tTa>tGa		lysine (K)-specific methyltransferase 2C							169.0	157.0	161.0					7																	151877201		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151877201A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7160T>G	7.37:g.151877201A>C	ENSP00000262189:p.Leu2387*		Somatic				KMT2C_ENST00000262189.6_Nonsense_Mutation_p.L2387*	p.L2387*			WXS	Illumina GAIIx	Phase_I					37	7378	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.7160T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	49	16.001177	0.99851	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.5	5.5	0.81552	.	0.000000	0.32785	N	0.005646	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6026	0.76636	1.0:0.0:0.0:0.0	.	.	.	.	X	2387	.	ENSP00000262189:L2387X	L	-	2	0	MLL3	151508134	0.987000	0.35691	0.853000	0.33588	0.977000	0.68977	8.478000	0.90428	2.085000	0.62840	0.528000	0.53228	TTA		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			55	69	55	69	---	---	---	---
TTC39B	158219	broad.mit.edu	37	9	15185290	15185290	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:15185290G>C	ENST00000512701.2	-	16	1638	c.1602C>G	c.(1600-1602)atC>atG	p.I534M	TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	534										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GGGCAGGTAAGATGAGCTTCA	0.438																																						ENST00000512701.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1600-1602)atC>atG		tetratricopeptide repeat domain 39B							100.0	101.0	101.0					9																	15185290		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15185290G>C	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1602C>G	9.37:g.15185290G>C	ENSP00000422496:p.Ile534Met		Somatic				TTC39B_ENST00000507285.1_Missense_Mutation_p.I369M|TTC39B_ENST00000355694.2_Missense_Mutation_p.I468M|TTC39B_ENST00000507993.1_Missense_Mutation_p.I369M|TTC39B_ENST00000380850.4_Missense_Mutation_p.I521M|TTC39B_ENST00000297615.5_Missense_Mutation_p.I465M	p.I534M			WXS	Illumina GAIIx	Phase_I	Q5VTQ0	TT39B_HUMAN			16	1638	-								A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.1602C>G	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457555	0.26161	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.85	3.01	0.34805	.	0.619056	0.16610	N	0.206935	T	0.40670	0.1126	L	0.59436	1.845	0.09310	N	0.999996	P;P;B;B;P	0.45715	0.837;0.865;0.135;0.135;0.655	B;P;B;B;B	0.47891	0.424;0.56;0.436;0.436;0.419	T	0.23226	-1.0194	10	0.37606	T	0.19	-3.5878	3.384	0.07265	0.1387:0.1036:0.5127:0.245	.	465;521;466;468;51	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	M	521;465;468;534;369;369	ENSP00000370231:I521M;ENSP00000297615:I465M;ENSP00000347920:I468M;ENSP00000422496:I534M;ENSP00000426539:I369M;ENSP00000423392:I369M	ENSP00000297615:I465M	I	-	3	3	TTC39B	15175290	0.156000	0.22821	0.156000	0.22583	0.693000	0.40251	0.689000	0.25437	0.804000	0.34136	0.563000	0.77884	ATC		0.438	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		5	82	5	82	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119903633	119903633	+	Silent	SNP	C	C	G			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr9:119903633C>G	ENST00000313400.4	-	4	1240	c.1140G>C	c.(1138-1140)ggG>ggC	p.G380G	ASTN2_ENST00000373996.3_Silent_p.G380G|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	380					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCTTCCTCTTCCCTGCCGATG	0.577																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1138-1140)ggG>ggC		astrotactin 2							98.0	77.0	84.0					9																	119903633		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119903633C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1140G>C	9.37:g.119903633C>G			Somatic				ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.G380G	p.G380G			WXS	Illumina GAIIx	Phase_I	O75129	ASTN2_HUMAN			4	1240	-			380					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1140G>C																																																																																					0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		19	17	19	17	---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127677139	127677139	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr10:127677139G>C	ENST00000368693.1	+	3	315	c.211G>C	c.(211-213)Gtt>Ctt	p.V71L	FANK1_ENST00000368695.1_Missense_Mutation_p.V65L|FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	71	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AACGAAGCATGTTGTTGAAGG	0.512																																						ENST00000368695.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(193-195)Gtt>Ctt		fibronectin type III and ankyrin repeat domains 1							260.0	236.0	244.0					10																	127677139		2203	4300	6503	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127677139G>C	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.211G>C	10.37:g.127677139G>C	ENSP00000357682:p.Val71Leu		Somatic				FANK1_ENST00000368689.1_Missense_Mutation_p.V65L|FANK1_ENST00000368693.1_Missense_Mutation_p.V71L|FANK1_ENST00000449042.2_Missense_Mutation_p.V65L	p.V65L	NM_145235.3	NP_660278.3	WXS	Illumina GAIIx	Phase_I	Q8TC84	FANK1_HUMAN			3	315	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	71			Fibronectin type-III.		Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.193G>C	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421722	0.25639	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.07	3.18	0.36537	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.171981	0.33959	N	0.004392	T	0.18045	0.0433	N	0.21448	0.665	0.09310	N	1	B;B;B;B	0.14805	0.011;0.005;0.002;0.001	B;B;B;B	0.17979	0.006;0.02;0.01;0.003	T	0.15780	-1.0425	10	0.23302	T	0.38	-21.6663	8.3196	0.32121	0.2509:0.0:0.7491:0.0	.	65;71;71;71	B7Z939;Q8TC84-3;Q8TC84-2;Q8TC84	.;.;.;FANK1_HUMAN	L	65;71;65;65;65;65;65;71	ENSP00000357684:V65L;ENSP00000357682:V71L;ENSP00000411388:V65L;ENSP00000396356:V65L;ENSP00000415719:V65L;ENSP00000357680:V65L;ENSP00000357678:V65L	ENSP00000357678:V65L	V	+	1	0	FANK1	127667129	0.345000	0.24835	0.045000	0.18777	0.323000	0.28346	2.001000	0.40825	1.360000	0.45960	0.650000	0.86243	GTT		0.512	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		6	113	6	113	---	---	---	---
ZNF143	7702	broad.mit.edu	37	11	9500066	9500066	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:9500066G>A	ENST00000396602.2	+	6	622	c.503G>A	c.(502-504)gGt>gAt	p.G168D	ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGTGGCAGGTCTGCACACT	0.493																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(502-504)gGt>gAt		zinc finger protein 143							158.0	133.0	142.0					11																	9500066		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9500066G>A	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.503G>A	11.37:g.9500066G>A	ENSP00000379847:p.Gly168Asp		Somatic				ZNF143_ENST00000299606.2_Missense_Mutation_p.G140D|ZNF143_ENST00000396604.1_Missense_Mutation_p.G167D|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137D|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167D	p.G168D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	WXS	Illumina GAIIx	Phase_I	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	6	622	+			168					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.503G>A	CCDS7799.2	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980608	0.18812	.	.	ENSG00000166478	ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000396597;ENST00000438144;ENST00000299606;ENST00000534265	T;T;T;T;T;T;T;T	0.40225	3.04;3.03;3.04;1.11;3.05;1.09;3.05;1.04	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.40886	0.1135	N	0.02802	-0.49	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.52881	-0.8516	9	.	.	.	.	18.3682	0.90398	0.0:0.0:1.0:0.0	.	137;167;168	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	D	167;168;167;136;137;168;140;168	ENSP00000379849:G167D;ENSP00000379847:G168D;ENSP00000432154:G167D;ENSP00000434922:G136D;ENSP00000379843:G137D;ENSP00000409432:G168D;ENSP00000299606:G140D;ENSP00000433743:G168D	.	G	+	2	0	ZNF143	9456642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	2.344000	0.79699	0.591000	0.81541	GGT		0.493	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		35	41	35	41	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48347461	48347461	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr11:48347461G>A	ENST00000319856.4	+	1	990	c.969G>A	c.(967-969)atG>atA	p.M323I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AAAATGCCATGAGAAAGCTCT	0.328																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(967-969)atG>atA		olfactory receptor, family 4, subfamily C, member 3							47.0	48.0	48.0					11																	48347461		2198	4295	6493	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347461G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.969G>A	11.37:g.48347461G>A	ENSP00000321419:p.Met323Ile		Somatic					p.M323I	NM_001004702.1	NP_001004702.1	WXS	Illumina GAIIx	Phase_I	Q8NH37	OR4C3_HUMAN			1	990	+			296					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.969G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	5.815	0.334733	0.11013	.	.	ENSG00000176547	ENST00000319856	T	0.35048	1.33	5.97	3.04	0.35103	.	0.188527	0.38217	N	0.001780	T	0.16385	0.0394	N	0.11106	0.095	0.19775	N	0.999952	B	0.02656	0.0	B	0.04013	0.001	T	0.13710	-1.0499	10	0.27785	T	0.31	.	5.3189	0.15870	0.2237:0.0:0.6333:0.143	.	296	Q8NH37	OR4C3_HUMAN	I	323	ENSP00000321419:M323I	ENSP00000321419:M323I	M	+	3	0	OR4C3	48304037	0.128000	0.22383	0.835000	0.33067	0.656000	0.38851	0.042000	0.13949	0.838000	0.34948	0.561000	0.74099	ATG		0.328	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		14	24	14	24	---	---	---	---
TEX26	122046	broad.mit.edu	37	13	31531142	31531142	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr13:31531142A>T	ENST00000380473.3	+	4	458	c.445A>T	c.(445-447)Aga>Tga	p.R149*	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	149																	CCTTACTAAGAGAGACTTTGT	0.438																																						ENST00000380473.3																			0											c.(445-447)Aga>Tga		testis expressed 26							121.0	111.0	114.0					13																	31531142		2203	4300	6503	SO:0001587	stop_gained	122046							g.chr13:31531142A>T	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.445A>T	13.37:g.31531142A>T	ENSP00000369840:p.Arg149*		Somatic				TEX26_ENST00000530916.1_3'UTR	p.R149*	NM_152325.1	NP_689538.1	WXS	Illumina GAIIx	Phase_I	Q8N6G2	CM026_HUMAN			4	458	+			149						Nonsense_Mutation	SNP	ENST00000380473.3	37	c.445A>T	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	A	36	5.946326	0.97134	.	.	ENSG00000175664	ENST00000380473	.	.	.	4.86	2.39	0.29439	.	0.593231	0.15420	N	0.263293	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-10.8111	4.813	0.13353	0.6846:0.0:0.3154:0.0	.	.	.	.	X	149	.	ENSP00000369840:R149X	R	+	1	2	C13orf26	30429142	0.013000	0.17824	0.500000	0.27589	0.890000	0.51754	0.634000	0.24614	0.642000	0.30620	0.533000	0.62120	AGA		0.438	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		24	72	24	72	---	---	---	---
ISM2	145501	broad.mit.edu	37	14	77948909	77948909	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr14:77948909G>A	ENST00000342219.4	-	4	785	c.729C>T	c.(727-729)ccC>ccT	p.P243P	ISM2_ENST00000412904.1_Silent_p.P162P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000393684.3_Silent_p.P155P	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	243						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGAGGGCGGGCAGCCAGC	0.607																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(463-465)ccC>ccT		isthmin 2							81.0	89.0	87.0					14																	77948909		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77948909G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.729C>T	14.37:g.77948909G>A			Somatic				ISM2_ENST00000342219.4_Silent_p.P243P|ISM2_ENST00000429906.1_Silent_p.P162P|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Silent_p.P162P	p.P155P			WXS	Illumina GAIIx	Phase_I	Q6H9L7	ISM2_HUMAN			5	856	-			243					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.465C>T	CCDS9864.1																																																																																				0.607	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		27	37	27	37	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081526	53081526	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:53081526C>T	ENST00000305901.5	-	1	683	c.556G>A	c.(556-558)Ggt>Agt	p.G186S	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	186					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGCCCAGACCGGAGCTGGAG	0.667																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(556-558)Ggt>Agt		one cut homeobox 1							40.0	54.0	49.0					15																	53081526		2191	4290	6481	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081526C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.556G>A	15.37:g.53081526C>T	ENSP00000302630:p.Gly186Ser		Somatic				ONECUT1_ENST00000561401.2_Intron	p.G186S	NM_004498.2	NP_004489.1	WXS	Illumina GAIIx	Phase_I	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	683	-			186					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.556G>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914273	0.52546	.	.	ENSG00000169856	ENST00000305901	T	0.52057	0.68	4.43	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.60929	-0.7165	10	0.34782	T	0.22	-5.8955	11.4805	0.50322	0.0:0.911:0.0:0.089	.	186	Q9UBC0	HNF6_HUMAN	S	186	ENSP00000302630:G186S	ENSP00000302630:G186S	G	-	1	0	ONECUT1	50868818	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	5.820000	0.69250	1.091000	0.41335	-0.172000	0.13284	GGT		0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			27	32	27	32	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78526789	78526789	+	Silent	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr15:78526789G>A	ENST00000258873.4	-	1	260	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	19					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCTGTCCAGCATGCTGGGG	0.562																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(55-57)Ctg>Ttg		acyl-CoA synthetase bubblegum family member 1							141.0	152.0	148.0					15																	78526789		2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78526789G>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.55C>T	15.37:g.78526789G>A			Somatic				ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron	p.L19L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	WXS	Illumina GAIIx	Phase_I	Q96GR2	ACBG1_HUMAN			1	260	-			19					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.55C>T	CCDS10298.1																																																																																				0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		76	105	76	105	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35190641	35190641	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr21:35190641A>C	ENST00000381318.3	+	23	3086	c.2798A>C	c.(2797-2799)aAt>aCt	p.N933T	ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	933	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACCACTTAAATTTTAACAAA	0.453																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2797-2799)aAt>aCt		intersectin 1 (SH3 domain protein)							129.0	125.0	127.0					21																	35190641		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35190641A>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2798A>C	21.37:g.35190641A>C	ENSP00000370719:p.Asn933Thr		Somatic				ITSN1_ENST00000399367.3_Missense_Mutation_p.N928T|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.N933T|ITSN1_ENST00000437442.2_Missense_Mutation_p.N928T|ITSN1_ENST00000399355.2_Missense_Mutation_p.N933T|ITSN1_ENST00000381285.4_Missense_Mutation_p.N933T|ITSN1_ENST00000399326.3_Missense_Mutation_p.N928T|ITSN1_ENST00000399352.1_Missense_Mutation_p.N928T|ITSN1_ENST00000399353.1_Missense_Mutation_p.N891T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.N928T	p.N933T	NM_003024.2	NP_003015.2	WXS	Illumina GAIIx	Phase_I	Q15811	ITSN1_HUMAN			23	3086	+			933			SH3 2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2798A>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725682	0.89298	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.75	5.75	0.90469	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.32526	0.0832	N	0.10760	0.04	0.80722	D	1	B;D;B;D;B;D;D;B;D	0.76494	0.024;0.999;0.233;0.999;0.02;0.999;0.999;0.019;0.99	B;D;B;D;B;D;D;B;D	0.91635	0.023;0.999;0.315;0.998;0.032;0.998;0.998;0.013;0.928	T	0.42799	-0.9430	10	0.59425	D	0.04	.	16.0623	0.80847	1.0:0.0:0.0:0.0	.	896;896;891;928;933;928;933;928;891	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	T	891;933;933;933;933;928;928;928;933;928;928;928	ENSP00000382290:N891T;ENSP00000370719:N933T;ENSP00000370691:N933T;ENSP00000370685:N933T;ENSP00000382301:N928T;ENSP00000382289:N928T;ENSP00000382292:N933T;ENSP00000382286:N928T;ENSP00000387377:N928T;ENSP00000382265:N928T	ENSP00000370685:N933T	N	+	2	0	ITSN1	34112511	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.930000	0.92872	2.196000	0.70406	0.374000	0.22700	AAT		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		6	59	6	59	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182329	120182329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chrX:120182329G>A	ENST00000328078.1	+	1	868	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	264					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCCAAGGGGGAATCCATGGA	0.478																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(790-792)gGa>gAa		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						128.0	97.0	108.0					X																	120182329		2203	4297	6500	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182329G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.791G>A	X.37:g.120182329G>A	ENSP00000327589:p.Gly264Glu		Somatic					p.G264E	NM_012084.3	NP_036216.2	WXS	Illumina GAIIx	Phase_I	P49448	DHE4_HUMAN			1	868	+			264					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.791G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042554	0.55003	.	.	ENSG00000182890	ENST00000328078	D	0.99014	-5.33	2.33	1.41	0.22369	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.096882	0.64402	D	0.000001	D	0.99554	0.9840	H	0.99877	4.88	0.58432	D	0.999993	D	0.89917	1.0	D	0.81914	0.995	D	0.97709	1.0189	10	0.87932	D	0	-3.8822	7.6844	0.28532	0.0:0.0:0.7467:0.2533	.	264	P49448	DHE4_HUMAN	E	264	ENSP00000327589:G264E	ENSP00000327589:G264E	G	+	2	0	GLUD2	120010010	1.000000	0.71417	0.002000	0.10522	0.930000	0.56654	6.599000	0.74127	0.263000	0.21812	0.466000	0.42574	GGA		0.478	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		32	4	32	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578555	7578556	+	Splice_Site	DEL	CT	CT	-			TCGA-KK-A8II-01A-11D-A364-08	TCGA-KK-A8II-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	008659ce-78a0-4243-8cf4-bbfb8308e993	ff736958-09d1-4cb7-9fa5-5955bde500ff	g.chr17:7578555_7578556delCT	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGAG	0.554		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		84	Unknown(72)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(72)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(21)|ovary(13)|breast(11)|pancreas(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|oesophagus(5)|bone(5)|liver(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(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						c.e5-1	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555_7578556delCT	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.376-1AG>-	17.37:g.7578555_7578556delCT		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)	Somatic				TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	6	5	6	5	---	---	---	---
