#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRT83	3889	broad.mit.edu	37	12	52710275	52710275	+	Missense_Mutation	SNP	C	C	T	rs553152302		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:52710275C>T	ENST00000293670.3	-	6	1080	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	340	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCCACCTCGGCTGTCAGC	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18774	0.0		0.0	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(1018-1020)Gag>Aag		keratin 83							108.0	92.0	97.0					12																	52710275		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710275C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1018G>A	12.37:g.52710275C>T	ENSP00000293670:p.Glu340Lys						p.E340K	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1080	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		340			Coil 2.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1018G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914779	0.92178	.	.	ENSG00000170523	ENST00000293670	T	0.78816	-1.21	3.89	3.89	0.44902	Filament (1);	0.000000	0.44483	D	0.000443	T	0.81795	0.4898	M	0.81614	2.55	0.50171	D	0.999853	P	0.51147	0.942	P	0.46362	0.514	D	0.86517	0.1813	10	0.87932	D	0	.	16.2294	0.82322	0.0:1.0:0.0:0.0	.	340	P78385	KRT83_HUMAN	K	340	ENSP00000293670:E340K	ENSP00000293670:E340K	E	-	1	0	KRT83	50996542	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	7.742000	0.85008	1.901000	0.55032	0.462000	0.41574	GAG		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	75	0	0	0	1	0	5	75				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	84	0	0	0	1	0	5	84				
TRAPPC10	7109	broad.mit.edu	37	21	45502895	45502895	+	Silent	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr21:45502895G>A	ENST00000291574.4	+	14	2125	c.1950G>A	c.(1948-1950)acG>acA	p.T650T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	650					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGCACAAGACGTCCAATGGGA	0.502																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(1948-1950)acG>acA		trafficking protein particle complex 10							166.0	155.0	159.0					21																	45502895		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45502895G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1950G>A	21.37:g.45502895G>A							p.T650T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			14	2125	+			650					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.1950G>A	CCDS13704.1																																																																																				0.502	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	160	0	0	0	1	0	4	160				
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						ENST00000453495.1																			7	Substitution - coding silent(7)	p.S1513S(3)|p.S1479S(3)|p.S1478S(1)	prostate(3)|kidney(2)|central_nervous_system(2)								c.(4645-4647)tcA>tcC		centrosomal protein 170B							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638							g.chr14:105361169A>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4539A>C	14.37:g.105361169A>C						CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000414716.3_Silent_p.S1513S	p.S1549S							19	4875	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4647A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	12	0	0	0	1	0	4	12				
C1QTNF9	338872	broad.mit.edu	37	13	24892993	24892993	+	Silent	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr13:24892993G>A	ENST00000382071.2	+	3	289	c.204G>A	c.(202-204)ggG>ggA	p.G68G	C1QTNF9_ENST00000332018.4_Silent_p.G68G|C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_3'UTR			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	68	Collagen-like 1.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGAAGGATGGGACGAGTGGAG	0.463																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(202-204)ggG>ggA		C1q and tumor necrosis factor related protein 9							177.0	173.0	174.0					13																	24892993		2203	4300	6503	SO:0001819	synonymous_variant	338872					collagen	hormone activity	g.chr13:24892993G>A	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.204G>A	13.37:g.24892993G>A						C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.G68G	p.G68G			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	3	289	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	68			Collagen-like 1.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Silent	SNP	ENST00000382071.2	37	c.204G>A	CCDS9306.1																																																																																				0.463	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		4	43	0	0	0	1	0	4	43				
ITGAM	3684	broad.mit.edu	37	16	31332597	31332597	+	Silent	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr16:31332597G>A	ENST00000287497.8	+	15	1818	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	ITGAM_ENST00000544665.3_Silent_p.Q582Q			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	581					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCAGGCTCCAGTATTTTGGTC	0.547																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1744-1746)caG>caA		integrin, alpha M (complement component 3 receptor 3 subunit)							131.0	137.0	135.0					16																	31332597		2068	4220	6288	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332597G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1743G>A	16.37:g.31332597G>A						ITGAM_ENST00000287497.8_Silent_p.Q581Q	p.Q582Q	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			15	1817	+			581					Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1746G>A	CCDS45470.1																																																																																				0.547	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		4	125	0	0	0	1	0	4	125				
GSTT1	2952	broad.mit.edu	37	22	24379404	24379404	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr22:24379404T>C	ENST00000248935.5	-	3	360	c.308A>G	c.(307-309)cAc>cGc	p.H103R	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN		103	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Carboplatin(DB00958)|Cisplatin(DB00515)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)	CAGAGTCGTGTGCTGCCATGC	0.607									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial																													ENST00000248935.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6						c.(307-309)cAc>cGc		glutathione S-transferase theta 1	Glutathione(DB00143)						50.0	44.0	46.0					22																	24379404		1678	3581	5259	SO:0001583	missense	2952	Myelodysplasia and Acute Myeloid Leukemia (AML), Familial	Familial Cancer Database	incl.: Familial Myelodysplastic syndrome (late-onset), Familial AML, Familial Monocytic Leukemia, Familial Monosomy 7 and AML	glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	g.chr22:24379404T>C																												ENST00000248935.5:c.308A>G	22.37:g.24379404T>C	ENSP00000248935:p.His103Arg					GSTT1_ENST00000439996.2_5'UTR	p.H103R	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN			3	360	-			103			GST C-terminal.		O00226|Q5TZY2|Q6IC69|Q969K8|Q96IY3	Missense_Mutation	SNP	ENST00000248935.5	37	c.308A>G	CCDS13822.1	.	.	.	.	.	.	.	.	.	.	.	16.53	3.150458	0.57151	.	.	ENSG00000184674	ENST00000436103;ENST00000248935	T;T	0.42900	0.96;2.28	4.64	3.51	0.40186	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.92122	3.275	0.80722	D	1	D	0.64830	0.994	P	0.49226	0.603	T	0.68349	-0.5432	10	0.72032	D	0.01	-16.4531	9.4611	0.38785	0.0:0.0:0.1778:0.8221	.	103	P30711	GSTT1_HUMAN	R	30;103	ENSP00000389481:H30R;ENSP00000248935:H103R	ENSP00000248935:H103R	H	-	2	0	GSTT1	22709404	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.059000	0.57470	2.057000	0.61298	0.486000	0.48141	CAC		0.607	GSTT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320184.2			4	30	0	0	0	1	0	4	30				
GNA14	9630	broad.mit.edu	37	9	80043895	80043895	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr9:80043895C>A	ENST00000341700.6	-	5	1164	c.651G>T	c.(649-651)gaG>gaT	p.E217D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGGTGACACTCTCAAAGCAGT	0.483																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(649-651)gaG>gaT		guanine nucleotide binding protein (G protein), alpha 14							206.0	191.0	196.0					9																	80043895		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80043895C>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.651G>T	9.37:g.80043895C>A	ENSP00000365807:p.Glu217Asp					GNA14_ENST00000464095.1_5'UTR	p.E217D	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			5	1164	-			217					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.651G>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303004	0.81136	.	.	ENSG00000156049	ENST00000341700	D	0.88354	-2.37	5.51	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	L	0.56396	1.775	0.44515	D	0.997466	P	0.38978	0.652	P	0.47470	0.548	D	0.87829	0.2643	10	0.87932	D	0	.	7.6379	0.28277	0.0:0.7231:0.0:0.2769	.	217	O95837	GNA14_HUMAN	D	217	ENSP00000365807:E217D	ENSP00000365807:E217D	E	-	3	2	GNA14	79233715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.752000	0.38349	1.202000	0.43218	0.655000	0.94253	GAG		0.483	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			10	120	1	0	2.17888e-05	1	2.24113e-05	10	120				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231508	29231508	+	lincRNA	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr6:29231508A>G	ENST00000441381.1	+	0	79																											GGGTCATATGACATCACAGCC	0.458																																						ENST00000441381.1																			0																				197.0	187.0	190.0					6																	29231508		1996	4198	6194			0							g.chr6:29231508A>G																													6.37:g.29231508A>G														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.458	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			6	196	0	0	0	1	0	6	196				
CCDC109B	55013	broad.mit.edu	37	4	110603877	110603877	+	Silent	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr4:110603877A>G	ENST00000394650.4	+	5	724	c.591A>G	c.(589-591)gaA>gaG	p.E197E		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	197					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTGAAGGAACAGCTGCAGC	0.388																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(589-591)gaA>gaG		coiled-coil domain containing 109B							90.0	83.0	85.0					4																	110603877		2203	4300	6503	SO:0001819	synonymous_variant	55013					integral to membrane		g.chr4:110603877A>G	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.591A>G	4.37:g.110603877A>G							p.E197E	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	5	724	+			197					A8K4Y3|Q6IAC1	Silent	SNP	ENST00000394650.4	37	c.591A>G	CCDS3683.2																																																																																				0.388	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		3	61	0	0	0	1	0	3	61				
GPNMB	10457	broad.mit.edu	37	7	23293803	23293803	+	Missense_Mutation	SNP	C	C	T	rs145407985	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:23293803C>T	ENST00000381990.2	+	3	400	c.239C>T	c.(238-240)gCg>gTg	p.A80V	GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000258733.4_Missense_Mutation_p.A80V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.A80V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTGTGCAGGCGGTCCTGACC	0.458													C|||	2	0.000399361	0.0	0.0	5008	,	,		16129	0.002		0.0	False		,,,				2504	0.0					ENST00000258733.4																			1	Substitution - Missense(1)	p.A80V(1)	large_intestine(1)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(238-240)gCg>gTg		glycoprotein (transmembrane) nmb		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	108.0	113.0	111.0		239,239	5.3	0.9	7	dbSNP_134	111	0,8600		0,0,4300	no	missense,missense	GPNMB	NM_001005340.1,NM_002510.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/573,80/561	23293803	1,13005	2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293803C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.239C>T	7.37:g.23293803C>T	ENSP00000371420:p.Ala80Val					GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A80V|GPNMB_ENST00000539136.1_Intron	p.A80V			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		3	534	+			80					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.239C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396907	0.42512	2.27E-4	0.0	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.13420	2.59;2.61;2.62	6.17	5.3	0.74995	.	0.073610	0.56097	D	0.000028	T	0.29158	0.0725	L	0.57536	1.79	0.35035	D	0.759118	D;D;P;D	0.89917	0.999;1.0;0.58;1.0	D;D;B;D	0.87578	0.964;0.998;0.126;0.998	T	0.20605	-1.0270	10	0.02654	T	1	-21.0265	15.6955	0.77494	0.0:0.9348:0.0:0.0652	.	80;80;80;80	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	V	80;115;80;80;80	ENSP00000258733:A80V;ENSP00000371420:A80V;ENSP00000405586:A80V	ENSP00000258733:A80V	A	+	2	0	GPNMB	23260328	0.981000	0.34729	0.916000	0.36221	0.167000	0.22549	2.490000	0.45294	1.625000	0.50366	0.655000	0.94253	GCG		0.458	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		5	109	0	0	0	1	0	5	109				
TRRAP	8295	broad.mit.edu	37	7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:98533290C>T	ENST00000359863.4	+	28	4312	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTACGAATTGCGGCATTAAGT	0.393																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4102-4104)gCg>gTg		transformation/transcription domain-associated protein							64.0	60.0	61.0					7																	98533290		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533290C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4103C>T	7.37:g.98533290C>T	ENSP00000352925:p.Ala1368Val					TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V|TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V	p.A1368V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4312	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1368					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4103C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.501952|4.501952	0.85176|0.85176	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.66280|.	-0.2;-0.2|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-type fold (1);|.	0.051888|.	0.85682|.	D|.	0.000000|.	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.02751|0.02751	-0.505|-0.505	0.80722|0.80722	D|D	1|1	D;D;D|.	0.62365|.	0.991;0.975;0.987|.	P;B;P|.	0.48654|.	0.585;0.335;0.461|.	T|T	0.40831|0.40831	-0.9542|-0.9542	10|5	0.32370|.	T|.	0.25|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1368;1082;1368|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1368;1368;1366|1083	ENSP00000352925:A1368V;ENSP00000347733:A1368V|.	ENSP00000347733:A1368V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98371226|98371226	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.393000|0.393000	0.30537|0.30537	7.622000|7.622000	0.83099|0.83099	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		3	57	0	0	0	1	0	3	57				
IGF1R	3480	broad.mit.edu	37	15	99465453	99465453	+	Missense_Mutation	SNP	G	G	A	rs70958396		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:99465453G>A	ENST00000268035.6	+	11	2889	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	760	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CACCACGGCCGCAGACACCTA	0.527																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2278-2280)Gca>Aca		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						96.0	91.0	93.0					15																	99465453		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99465453G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2278G>A	15.37:g.99465453G>A	ENSP00000268035:p.Ala760Thr					IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T	p.A760T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		11	2889	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		760					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2278G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	1.305	-0.603737	0.03717	.	.	ENSG00000140443	ENST00000268035	T	0.56611	0.45	5.5	3.61	0.41365	Fibronectin, type III (2);	1.040770	0.07646	N	0.931168	T	0.34019	0.0883	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25187	-1.0139	10	0.14656	T	0.56	.	8.3942	0.32546	0.1351:0.2383:0.6267:0.0	.	760;760	C9J5X1;P08069	.;IGF1R_HUMAN	T	760	ENSP00000268035:A760T	ENSP00000268035:A760T	A	+	1	0	IGF1R	97282976	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.028000	0.12350	0.671000	0.31185	-0.150000	0.13652	GCA		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		3	29	0	0	0	1	0	3	29				
FAM86HP	729375	broad.mit.edu	37	3	129822685	129822685	+	RNA	SNP	G	G	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr3:129822685G>C	ENST00000500074.2	-	0	389									family with sequence similarity 86, member H, pseudogene																		ATCTAAGTTGGCAGTGATGTC	0.567																																						ENST00000500074.2																			0																																																			0							g.chr3:129822685G>C			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129822685G>C														0	389	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.567	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			5	66	0	0	0	1	0	5	66				
HS6ST1	9394	broad.mit.edu	37	2	129026421	129026421	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr2:129026421A>G	ENST00000259241.6	-	2	564	c.551T>C	c.(550-552)cTa>cCa	p.L184P		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	184					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGTCTCGTAGCAGGGTGAT	0.622																																						ENST00000259241.6																			0				endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(550-552)cTa>cCa		heparan sulfate 6-O-sulfotransferase 1							27.0	28.0	28.0					2																	129026421		2038	4089	6127	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026421A>G	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.551T>C	2.37:g.129026421A>G	ENSP00000259241:p.Leu184Pro						p.L184P	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	564	-	Colorectal(110;0.1)		184					B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.551T>C	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237048	0.79800	.	.	ENSG00000136720	ENST00000259241	T	0.75260	-0.92	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.88145	0.6358	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90391	0.4395	9	.	.	.	.	14.4384	0.67298	1.0:0.0:0.0:0.0	.	184	O60243	H6ST1_HUMAN	P	184	ENSP00000259241:L184P	.	L	-	2	0	HS6ST1	128742891	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.936000	0.92931	1.813000	0.52934	0.379000	0.24179	CTA		0.622	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		3	38	0	0	0	1	0	3	38				
USP4	7375	broad.mit.edu	37	3	49335318	49335318	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr3:49335318C>T	ENST00000265560.4	-	13	1722	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	USP4_ENST00000488520.1_5'Flank|USP4_ENST00000351842.4_Missense_Mutation_p.R512Q	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	559	USP.|Ubiquitin-like 2.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AATGTCATCCCGAGGCATGAT	0.418																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1534-1536)cGg>cAg		ubiquitin specific peptidase 4 (proto-oncogene)							136.0	117.0	123.0					3																	49335318		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49335318C>T	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1676G>A	3.37:g.49335318C>T	ENSP00000265560:p.Arg559Gln					USP4_ENST00000265560.4_Missense_Mutation_p.R559Q	p.R512Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	12	1543	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	559					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1535G>A	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596807	0.86953	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.22539	1.95;2.09	5.84	5.84	0.93424	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.099589	0.64402	D	0.000003	T	0.43122	0.1233	M	0.66378	2.025	0.80722	D	1	D;D;D	0.76494	0.997;0.984;0.999	P;P;D	0.68483	0.852;0.781;0.958	T	0.22034	-1.0228	10	0.66056	D	0.02	-17.5922	13.0164	0.58759	0.0:0.9225:0.0:0.0775	.	512;559;559	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	Q	512;559	ENSP00000341028:R512Q;ENSP00000265560:R559Q	ENSP00000265560:R559Q	R	-	2	0	USP4	49310322	0.998000	0.40836	0.997000	0.53966	0.983000	0.72400	2.803000	0.47924	2.768000	0.95171	0.650000	0.86243	CGG		0.418	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		6	72	0	0	0	1	0	6	72				
TUBGCP5	114791	broad.mit.edu	37	15	22861861	22861861	+	Silent	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:22861861G>A	ENST00000283645.4	+	14	2011	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	TUBGCP5_ENST00000453949.2_Silent_p.K627K|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	627					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACCTGATGAAGATGCAGTCCA	0.468																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1879-1881)aaG>aaA		tubulin, gamma complex associated protein 5							157.0	133.0	141.0					15																	22861861		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22861861G>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1881G>A	15.37:g.22861861G>A						TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.K627K	p.K627K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	14	2011	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	627					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.1881G>A	CCDS10008.1																																																																																				0.468	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		6	171	0	0	0	1	0	6	171				
GLUD2	2747	broad.mit.edu	37	X	120182972	120182972	+	Silent	SNP	T	T	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chrX:120182972T>C	ENST00000328078.1	+	1	1511	c.1434T>C	c.(1432-1434)ttT>ttC	p.F478F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	478					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						AAAGAAAATTTGGAAAGCATG	0.428																																						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.(1432-1434)ttT>ttC		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						145.0	128.0	134.0					X																	120182972		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182972T>C	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.1434T>C	X.37:g.120182972T>C							p.F478F	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1511	+			478					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1434T>C	CCDS14603.1																																																																																				0.428	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		14	70	0	0	0	1	0	14	70				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aTg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>T	15.37:g.90631838C>A	ENSP00000331897:p.Arg172Met					IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron	p.R172M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325761	0.41197	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.98487	4.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.95498	0.8575	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	M	172;42;120	ENSP00000331897:R172M;ENSP00000438457:R42M;ENSP00000446147:R120M	ENSP00000331897:R172M	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			9	35	1	0	2.74318e-10	1	2.90454e-10	9	35				
UBR3	130507	broad.mit.edu	37	2	170863700	170863700	+	Splice_Site	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr2:170863700A>G	ENST00000272793.5	+	28	4280	c.4230A>G	c.(4228-4230)ccA>ccG	p.P1410P	UBR3_ENST00000418381.1_Splice_Site_p.P1410P|UBR3_ENST00000392631.1_Splice_Site_p.P231P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1410					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GAGCTTTCCCAGTAAGCATCA	0.403																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.e28+1		ubiquitin protein ligase E3 component n-recognin 3 (putative)							48.0	42.0	44.0					2																	170863700		2201	4300	6501	SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170863700A>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4230+1A>G	2.37:g.170863700A>G						UBR3_ENST00000418381.1_Splice_Site_p.P1410_splice|UBR3_ENST00000392631.1_Splice_Site_p.P231_splice	p.P1410_splice			Q6ZT12	UBR3_HUMAN			28	4280	+			1410					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	ENST00000272793.5	37	c.4230_splice		.	.	.	.	.	.	.	.	.	.	a	15.34	2.805312	0.50315	.	.	ENSG00000144357	ENST00000392632	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	T	0.70692	0.3253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70436	-0.4872	4	.	.	.	.	14.7171	0.69277	1.0:0.0:0.0:0.0	.	.	.	.	R	468	.	.	Q	+	2	0	UBR3	170571946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.155000	0.58131	1.884000	0.54569	0.373000	0.22412	CAG		0.403	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	Silent	3	7	0	0	0	1	0	3	7				
RTN4RL2	349667	broad.mit.edu	37	11	57243804	57243804	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr11:57243804G>A	ENST00000335099.3	+	3	1000	c.683G>A	c.(682-684)cGc>cAc	p.R228H	RP11-624G17.3_ENST00000528885.1_RNA	NM_178570.1	NP_848665.1			reticulon 4 receptor-like 2											NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGCCTCAGCCGCCTCACCATC	0.701																																						ENST00000335099.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(682-684)cGc>cAc		reticulon 4 receptor-like 2							15.0	19.0	17.0					11																	57243804		2190	4276	6466	SO:0001583	missense	349667				axon regeneration	anchored to plasma membrane	receptor activity	g.chr11:57243804G>A	BK001302	CCDS7957.1	11q12.1	2008-02-05			ENSG00000186907	ENSG00000186907			23053	protein-coding gene	gene with protein product		610462					Standard	NM_178570		Approved	NgR2, NGRH1	uc010rjt.2	Q86UN3	OTTHUMG00000167028	ENST00000335099.3:c.683G>A	11.37:g.57243804G>A	ENSP00000335397:p.Arg228His						p.R228H	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN			3	1000	+			228						Missense_Mutation	SNP	ENST00000335099.3	37	c.683G>A	CCDS7957.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691850	0.88735	.	.	ENSG00000186907	ENST00000335099	T	0.57107	0.42	4.52	4.52	0.55395	.	0.000000	0.42294	D	0.000737	T	0.55114	0.1900	L	0.31371	0.925	0.80722	D	1	D	0.71674	0.998	P	0.60236	0.871	T	0.57429	-0.7813	10	0.54805	T	0.06	.	11.4977	0.50419	0.0897:0.0:0.9103:0.0	.	228	Q86UN3	R4RL2_HUMAN	H	228	ENSP00000335397:R228H	ENSP00000335397:R228H	R	+	2	0	RTN4RL2	57000380	0.906000	0.30813	1.000000	0.80357	0.998000	0.95712	4.572000	0.60886	2.031000	0.59945	0.561000	0.74099	CGC		0.701	RTN4RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392537.1	NM_178570		4	40	0	0	0	1	0	4	40				
OR4L1	122742	broad.mit.edu	37	14	20528495	20528495	+	Missense_Mutation	SNP	G	G	A	rs367946088	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr14:20528495G>A	ENST00000315683.1	+	1	292	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	98						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(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGGGGCTGCGTGACCCAGAT	0.468													g|||	2	0.000399361	0.0	0.0	5008	,	,		19212	0.0		0.0	False		,,,				2504	0.002					ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(292-294)Gtg>Atg		olfactory receptor, family 4, subfamily L, member 1			MET/VAL	1,4405		0,1,2202	153.0	138.0	143.0		292	2.7	1.0	14		143	0,8600		0,0,4300	no	missense	OR4L1	NM_001004717.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	98/313	20528495	1,13005	2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528495G>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.292G>A	14.37:g.20528495G>A	ENSP00000319217:p.Val98Met						p.V98M	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	292	+	all_cancers(95;0.00108)		98					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.292G>A	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.113	-1.135434	0.01742	2.27E-4	0.0	ENSG00000176246	ENST00000315683	T	0.02015	4.5	3.97	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.235104	0.34156	N	0.004208	T	0.00754	0.0025	N	0.01751	-0.74	0.21147	N	0.999774	B	0.02656	0.0	B	0.01281	0.0	T	0.47661	-0.9100	10	0.02654	T	1	.	3.1839	0.06594	0.5848:0.0:0.1119:0.3033	.	98	Q8NH43	OR4L1_HUMAN	M	98	ENSP00000319217:V98M	ENSP00000319217:V98M	V	+	1	0	OR4L1	19598335	0.000000	0.05858	0.997000	0.53966	0.864000	0.49448	-0.397000	0.07269	0.680000	0.31366	-0.288000	0.09946	GTG		0.468	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			24	148	0	0	0	1	0	24	148				
TRBC2	28638	broad.mit.edu	37	7	142498903	142498903	+	RNA	SNP	G	G	A	rs1062612	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:142498903G>A	ENST00000466254.1	+	0	179							A0A5B9	TRBC2_HUMAN	T cell receptor beta constant 2							integral component of membrane (GO:0016021)											GCACAGACCCGCAGCCCCTCA	0.647													g|||	2	0.000399361	0.0	0.0	5008	,	,		31829	0.0		0.002	False		,,,				2504	0.0					ENST00000466254.1																			0															A		4,4282		0,4,2139	86.0	104.0	98.0			-11.6	0.0	7	dbSNP_86	98	19,8473		0,19,4227	no	intergenic				0,23,6366	AA,AG,GG		0.2237,0.0933,0.18			142498903	23,12755	2143	4246	6389			0							g.chr7:142498903G>A	M12888		7q34	2012-02-08			ENSG00000211772	ENSG00000211772		"""T cell receptors / TRB locus"""	12157	other	T cell receptor gene		615445				3860845, 8951372	Standard	NG_001333		Approved	TCRBC2		A0A5B9	OTTHUMG00000158912		7.37:g.142498903G>A														0	179	+									RNA	SNP	ENST00000466254.1	37																																																																																						0.647	TRBC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000352524.2	NG_001333		4	106	0	0	0	1	0	4	106				
KIF16B	55614	broad.mit.edu	37	20	16360693	16360693	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr20:16360693G>A	ENST00000354981.2	-	19	2111	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGCTTGCGAATCTGGAGC	0.517																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1954-1956)Cgc>Tgc		kinesin family member 16B							129.0	117.0	121.0					20																	16360693		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360693G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1954C>T	20.37:g.16360693G>A	ENSP00000347076:p.Arg652Cys					KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C|KIF16B_ENST00000378003.2_5'UTR	p.R652C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2111	-			652			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1954C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381424	0.61845	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.18657	2.2;2.2;2.2	5.28	4.27	0.50696	.	0.063176	0.64402	D	0.000004	T	0.43722	0.1260	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.68621	0.949;0.959;0.949;0.891	T	0.39165	-0.9627	10	0.66056	D	0.02	.	15.8263	0.78709	0.0:0.0:0.864:0.1359	.	652;652;652;652	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	C	652	ENSP00000347076:R652C;ENSP00000347995:R652C;ENSP00000384164:R652C	ENSP00000347076:R652C	R	-	1	0	KIF16B	16308693	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.524000	0.60552	2.630000	0.89119	0.655000	0.94253	CGC		0.517	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		6	130	0	0	0	1	0	6	130				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	133	0	0	0	1	0	4	133				
BRD2	6046	broad.mit.edu	37	6	32944712	32944712	+	Splice_Site	SNP	A	A	G			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr6:32944712A>G	ENST00000374825.4	+	7	2900	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	BRD2_ENST00000395287.1_Splice_Site_p.K400R|BRD2_ENST00000374831.4_Splice_Site_p.K400R|BRD2_ENST00000449085.2_Splice_Site_p.K353R|BRD2_ENST00000395289.2_Splice_Site_p.K400R|BRD2_ENST00000443797.2_Splice_Site_p.K280R	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	400	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						AGCACTGTCAAGGTACCCACT	0.512																																						ENST00000395289.2																			0				central_nervous_system(3)|stomach(2)	5						c.e7+1		bromodomain containing 2							60.0	65.0	63.0					6																	32944712		1476	2667	4143	SO:0001630	splice_region_variant	6046				spermatogenesis	nucleus	protein serine/threonine kinase activity	g.chr6:32944712A>G	X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"""bromodomain-containing 2"""			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.1200+1A>G	6.37:g.32944712A>G						BRD2_ENST00000374831.4_Splice_Site_p.K400_splice|BRD2_ENST00000374825.4_Splice_Site_p.K400_splice|BRD2_ENST00000395287.1_Splice_Site_p.K400_splice|BRD2_ENST00000449085.2_Splice_Site_p.K353_splice|BRD2_ENST00000443797.2_Splice_Site_p.K280_splice	p.K400_splice			P25440	BRD2_HUMAN			7	2800	+			400			Bromo 2.		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Splice_Site	SNP	ENST00000374825.4	37	c.1200_splice	CCDS4762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.107416|4.107416	0.77096|0.77096	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085|ENST00000449025	T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Bromodomain (5);Bromodomain, conserved site (1);|.	0.000000|.	0.52532|.	D|.	0.000061|.	T|T	0.36496|0.36496	0.0969|0.0969	N|N	0.21545|0.21545	0.675|0.675	0.80722|0.80722	D|D	1|1	P;P|.	0.48162|.	0.906;0.806|.	P;P|.	0.52646|.	0.705;0.615|.	T|T	0.26985|0.26985	-1.0087|-1.0087	10|5	0.36615|.	T|.	0.2|.	-18.8638|-18.8638	12.8681|12.8681	0.57951|0.57951	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	400;400|.	A2AAU0;P25440|.	.;BRD2_HUMAN|.	R|G	400;400;400;280;400;353|406	ENSP00000363958:K400R;ENSP00000363964:K400R;ENSP00000378704:K400R;ENSP00000413495:K280R;ENSP00000378702:K400R;ENSP00000409145:K353R|.	ENSP00000363958:K400R|.	K|S	+|+	2|1	0|0	BRD2|BRD2	33052690|33052690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.259000|7.259000	0.78381|0.78381	2.201000|2.201000	0.70794|0.70794	0.519000|0.519000	0.50382|0.50382	AAG|AGC		0.512	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076503.2		Missense_Mutation	7	30	0	0	0	1	0	7	30				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	20	0	0	0	1	0	3	20				
TNRC18	84629	broad.mit.edu	37	7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:5428871delG	ENST00000430969.1	-	5	932	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P195fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(583-585)cgfs		trinucleotide repeat containing 18							2.0	3.0	3.0					7																	5428871		765	1810	2575	SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5428871delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.584delC	7.37:g.5428871delG	ENSP00000395538:p.Pro195fs					TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs	p.P195fs			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	932	-		Ovarian(82;0.142)	195					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.584delC	CCDS47534.1																																																																																				0.776	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
HMX3	340784	broad.mit.edu	37	10	124895699	124895699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr10:124895699delC	ENST00000357878.5	+	1	222	c.133delC	c.(133-135)cccfs	p.P46fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	46	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCACCGGCCGCCCCCTAAGCC	0.766																																						ENST00000357878.5																			0				lung(4)	4						c.(133-135)ccfs		H6 family homeobox 3							3.0	5.0	5.0					10																	124895699		1433	3399	4832	SO:0001589	frameshift_variant	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895699delC		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.133delC	10.37:g.124895699delC	ENSP00000350549:p.Pro46fs						p.P46fs	NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	222	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	46			Pro-rich.		A8MU06	Frame_Shift_Del	DEL	ENST00000357878.5	37	c.133delC	CCDS41575.1																																																																																				0.766	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		2	4						2	4	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	7						4	7	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124887093	124887094	+	In_Frame_Ins	INS	-	-	TGT			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:124887093_124887094insTGT	ENST00000405201.1	-	14	1496_1497	c.1496_1497insACA	c.(1495-1497)cag>caACAg	p.499_499Q>QQ	NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000356219.3_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69Q>QQ			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgctg	0.619																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)cca>cACAca		nuclear receptor corepressor 2																																				SO:0001652	inframe_insertion	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093_124887094insTGT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1494_1496dupACA	12.37:g.124887097_124887099dupTGT	ENSP00000384018:p.Gln510dup					NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498P>HT|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498P>HT|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69P>HT|NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499P>HT|NCOR2_ENST00000405201.1_In_Frame_Ins_p.499_499P>HT	p.499_499P>HT	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1651_1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	c.1496_1497insACA	CCDS41858.2																																																																																				0.619	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		2	4						2	4	---	---	---	---
LOC642426	642426	broad.mit.edu	37	14	19408019	19408019	+	lincRNA	DEL	A	A	-			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr14:19408019delA	ENST00000548050.1	-	0	279					NR_046104.1																						CTGTGGAGCCAAAAAAAAAAT	0.393																																						ENST00000548050.1																			0																																																			0							g.chr14:19408019delA																													14.37:g.19408019delA								NR_046104.1						0	279	-									RNA	DEL	ENST00000548050.1	37																																																																																						0.393	RP11-536C10.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000408404.1			2	4						2	4	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		7	62						7	62	---	---	---	---
