#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33683193	33683193	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr5:33683193A>T	ENST00000504830.1	-	5	1180	c.845T>A	c.(844-846)tTc>tAc	p.F282Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.F282Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	282	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F282Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGGTTATGGAACAACCCAGT	0.388										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	kidney(1)											94.0	85.0	88.0					5																	33683193		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.845T>A	5.37:g.33683193A>T	ENSP00000422554:p.Phe282Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250396	0.80024	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.83591	-1.74;-1.74	5.42	5.42	0.78866	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	N	0.03115	-0.41	0.80722	D	1	P;P	0.51537	0.946;0.938	P;P	0.56700	0.507;0.804	T	0.75671	-0.3237	10	0.17369	T	0.5	.	15.4585	0.75336	1.0:0.0:0.0:0.0	.	282;282	P58397-3;P58397	.;ATS12_HUMAN	Y	282	ENSP00000422554:F282Y;ENSP00000344847:F282Y	ENSP00000344847:F282Y	F	-	2	0	ADAMTS12	33718950	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.758000	0.68776	2.043000	0.60533	0.519000	0.50382	TTC		0.388	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955	
AHNAK2	113146	broad.mit.edu;hgsc.bcm.edu	37	14	105414503	105414503	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:105414503C>G	ENST00000333244.5	-	7	7404	c.7285G>C	c.(7285-7287)Gac>Cac	p.D2429H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2429			D -> E (in dbSNP:rs11160826).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D2429H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTTCAGGTCCAGCTTGGGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											118.0	135.0	129.0					14																	105414503		1890	4092	5982	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7285G>C	14.37:g.105414503C>G	ENSP00000353114:p.Asp2429His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	11.85	1.761440	0.31228	.	.	ENSG00000185567	ENST00000333244	T	0.02236	4.38	4.02	4.02	0.46733	.	.	.	.	.	T	0.10078	0.0247	M	0.74258	2.255	0.22656	N	0.998882	D	0.76494	0.999	D	0.71870	0.975	T	0.13388	-1.0511	9	0.30078	T	0.28	.	10.964	0.47401	0.0:0.9037:0.0:0.0962	.	2429	Q8IVF2	AHNK2_HUMAN	H	2429	ENSP00000353114:D2429H	ENSP00000353114:D2429H	D	-	1	0	AHNAK2	104485548	0.019000	0.18553	0.116000	0.21606	0.248000	0.25809	0.421000	0.21280	1.803000	0.52742	0.485000	0.47835	GAC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
ALDOB	229	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104187208	104187208	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr9:104187208G>A	ENST00000374855.4	-	8	1040	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	306					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.L306L(1)|p.L306M(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CTGGCCTGCAGGGCCCGTCCA	0.552																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											83.0	81.0	82.0					9																	104187208		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.916C>T	9.37:g.104187208G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q13741|Q13742|Q5T7D6	Silent	SNP	ENST00000374855.4	37	CCDS6756.1																																																																																				0.552	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			
AMN	81693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	103395248	103395248	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:103395248T>C	ENST00000299155.5	+	5	482	c.449T>C	c.(448-450)tTc>tCc	p.F150S		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	150					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.F150S(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTGCCTCCTTCCGCGTGGGG	0.711																																																	1	Substitution - Missense(1)	kidney(1)											29.0	28.0	29.0					14																	103395248		2201	4297	6498	SO:0001583	missense	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.449T>C	14.37:g.103395248T>C	ENSP00000299155:p.Phe150Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437063	0.83885	.	.	ENSG00000166126	ENST00000299155;ENST00000541086	D	0.89196	-2.48	4.03	4.03	0.46877	.	0.054132	0.85682	U	0.000000	D	0.92835	0.7721	M	0.73962	2.25	0.54753	D	0.999984	D	0.76494	0.999	D	0.72075	0.976	D	0.92850	0.6296	10	0.87932	D	0	-19.1093	9.4177	0.38532	0.0:0.0:0.0:1.0	.	150	Q9BXJ7	AMNLS_HUMAN	S	150;96	ENSP00000299155:F150S	ENSP00000299155:F150S	F	+	2	0	AMN	102465001	0.966000	0.33281	0.998000	0.56505	0.949000	0.60115	0.816000	0.27267	1.475000	0.48197	0.254000	0.18369	TTC		0.711	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			
APOL2	23780	hgsc.bcm.edu	37	22	36624255	36624256	+	Frame_Shift_Ins	INS	-	-	G	rs368789233		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr22:36624255_36624256insG	ENST00000249066.6	-	6	684_685	c.208_209insC	c.(208-210)cgcfs	p.R70fs	APOL2_ENST00000451256.2_Frame_Shift_Ins_p.R182fs|APOL2_ENST00000358502.5_Frame_Shift_Ins_p.R70fs	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	70					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TTTATCGTGGCGGTTTTTGTCC	0.475																																																	0																																										SO:0001589	frameshift_variant	23780			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.209dupC	22.37:g.36624257_36624257dupG	ENSP00000249066:p.Arg70fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Frame_Shift_Ins	INS	ENST00000249066.6	37	CCDS43014.1																																																																																				0.475	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1		NM_145637	
DNAAF2	55172	broad.mit.edu;hgsc.bcm.edu	37	14	50100543	50100543	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:50100543C>T	ENST00000298292.8	-	1	1405	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	DNAAF2_ENST00000406043.3_Missense_Mutation_p.R442K	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	442					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)		p.R442K(2)		kidney(1)|lung(4)	5						CCCCGCGTGCCTGCTCAAGTC	0.716																																																	2	Substitution - Missense(2)	kidney(2)											7.0	8.0	8.0					14																	50100543		2096	4209	6305	SO:0001583	missense	0			AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1325G>A	14.37:g.50100543C>T	ENSP00000298292:p.Arg442Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	C	6.314	0.425997	0.11987	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.16897	2.31;2.57	5.04	-2.23	0.06930	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.002	T	0.40627	-0.9553	9	0.17369	T	0.5	.	0.935	0.01343	0.1431:0.2768:0.2793:0.3008	.	442;442	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	K	442	ENSP00000298292:R442K;ENSP00000384862:R442K	ENSP00000298292:R442K	R	-	2	0	DNAAF2	49170293	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.977000	0.03782	-0.390000	0.07774	-1.803000	0.00618	AGG		0.716	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			
CAMTA2	23125	broad.mit.edu;hgsc.bcm.edu	37	17	4876239	4876239	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:4876239G>T	ENST00000348066.3	-	15	2451	c.2328C>A	c.(2326-2328)ttC>ttA	p.F776L	CAMTA2_ENST00000358183.4_Missense_Mutation_p.F776L|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F781L|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F778L|CAMTA2_ENST00000361571.5_Missense_Mutation_p.F775L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F799L	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	776					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.F776L(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGTTCCAACGGAAAAGGAGCA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											71.0	63.0	66.0					17																	4876239		2203	4300	6503	SO:0001583	missense	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2328C>A	17.37:g.4876239G>T	ENSP00000321813:p.Phe776Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534531	0.64972	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.12	0.918	0.19386	Ankyrin repeat-containing domain (3);	0.064450	0.64402	D	0.000006	T	0.38904	0.1058	N	0.00296	-1.695	0.21579	N	0.999631	B;B;D;D;P	0.58268	0.047;0.337;0.982;0.969;0.949	B;B;D;D;D	0.68943	0.034;0.137;0.961;0.914;0.943	T	0.41052	-0.9530	10	0.46703	T	0.11	-19.1073	7.3428	0.26646	0.4519:0.0:0.5481:0.0	.	752;799;778;776;775	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	L	799;778;775;776;776	ENSP00000412886:F799L;ENSP00000370712:F778L;ENSP00000354828:F775L;ENSP00000350910:F776L;ENSP00000321813:F776L	ENSP00000321813:F776L	F	-	3	2	CAMTA2	4816963	0.999000	0.42202	0.392000	0.26245	0.998000	0.95712	2.784000	0.47774	0.347000	0.23924	0.655000	0.94253	TTC		0.647	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099	
CDAN1	146059	hgsc.bcm.edu	37	15	43023193	43023194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr15:43023193_43023194insG	ENST00000356231.3	-	13	1959_1960	c.1936_1937insC	c.(1936-1938)ctgfs	p.L646fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	646					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCGGTATGGCAGGAAAGCCACA	0.564																																																	0																																										SO:0001589	frameshift_variant	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1937dupC	15.37:g.43023195_43023195dupG	ENSP00000348564:p.Leu646fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Ins	INS	ENST00000356231.3	37	CCDS32209.1																																																																																				0.564	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300	
CDK10	8558	hgsc.bcm.edu	37	16	89753117	89753117	+	5'UTR	SNP	G	G	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr16:89753117G>C	ENST00000353379.7	+	0	42				RP11-368I7.4_ENST00000567544.1_5'Flank|CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10						negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCAGCGCTCGGCATGGCGGAG	0.677																																																	0													19.0	26.0	24.0					16																	89753117		1908	4111	6019	SO:0001623	5_prime_UTR_variant	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.-2G>C	16.37:g.89753117G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	RNA	SNP	ENST00000353379.7	37	CCDS10984.2																																																																																				0.677	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214813680	214813680	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:214813680A>C	ENST00000366955.3	+	12	2167	c.1999A>C	c.(1999-2001)Acg>Ccg	p.T667P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.T667P(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGAGTAAGAACGCTGGAGAT	0.398																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	kidney(1)											57.0	55.0	55.0					1																	214813680		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1999A>C	1.37:g.214813680A>C	ENSP00000355922:p.Thr667Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.579867	0.46006	.	.	ENSG00000117724	ENST00000366955	T	0.03330	3.97	5.69	4.58	0.56647	.	0.190385	0.25929	N	0.027387	T	0.05044	0.0135	.	.	.	0.09310	N	1	D	0.60575	0.988	P	0.48840	0.592	T	0.38329	-0.9666	9	0.30854	T	0.27	.	6.5608	0.22485	0.7904:0.0:0.0721:0.1375	.	667	P49454	CENPF_HUMAN	P	667	ENSP00000355922:T667P	ENSP00000355922:T667P	T	+	1	0	CENPF	212880303	0.004000	0.15560	0.003000	0.11579	0.934000	0.57294	1.224000	0.32539	1.000000	0.39049	0.496000	0.49642	ACG		0.398	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343	
DDX18	8886	broad.mit.edu;hgsc.bcm.edu	37	2	118578782	118578782	+	Missense_Mutation	SNP	A	A	G	rs371138301		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:118578782A>G	ENST00000263239.2	+	4	688	c.560A>G	c.(559-561)aAt>aGt	p.N187S	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	187					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.N187S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATCTTGTCAATGAAAACACT	0.308													A|||	1	0.000199681	0.0	0.0	5008	,	,		19551	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											60.0	61.0	61.0					2																	118578782		2202	4297	6499	SO:0001583	missense	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.560A>G	2.37:g.118578782A>G	ENSP00000263239:p.Asn187Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	A	2.721	-0.266537	0.05754	.	.	ENSG00000088205	ENST00000263239	T	0.01599	4.74	5.0	3.84	0.44239	RNA helicase, DEAD-box type, Q motif (1);	0.087511	0.85682	N	0.000000	T	0.00845	0.0028	N	0.05078	-0.115	0.35485	D	0.798496	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	10	0.02654	T	1	6.2231	5.7808	0.18306	0.7578:0.0:0.2422:0.0	.	187	Q9NVP1	DDX18_HUMAN	S	187	ENSP00000263239:N187S	ENSP00000263239:N187S	N	+	2	0	DDX18	118295252	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.706000	0.61845	1.038000	0.40049	0.528000	0.53228	AAT		0.308	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3		NM_006773	
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11572453	11572453	+	Missense_Mutation	SNP	C	C	G	rs556779874		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:11572453C>G	ENST00000262442.4	+	16	2872	c.2804C>G	c.(2803-2805)cCg>cGg	p.P935R	DNAH9_ENST00000454412.2_Missense_Mutation_p.P935R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	935	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P935L(2)|p.P935R(1)|p.P935Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTTTCTATCCGTCTCTGGAG	0.468																																																	4	Substitution - Missense(4)	ovary(1)|NS(1)|lung(1)|kidney(1)											148.0	145.0	146.0					17																	11572453		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2804C>G	17.37:g.11572453C>G	ENSP00000262442:p.Pro935Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054022	0.55218	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.37058	1.28;1.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.89414	3.03	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.72246	-0.4349	10	0.59425	D	0.04	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	935	Q9NYC9	DYH9_HUMAN	R	935	ENSP00000262442:P935R;ENSP00000414874:P935R	ENSP00000262442:P935R	P	+	2	0	DNAH9	11513178	1.000000	0.71417	0.218000	0.23776	0.159000	0.22180	7.475000	0.81041	2.530000	0.85305	0.655000	0.94253	CCG		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56468870	56468870	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr6:56468870G>T	ENST00000361203.3	-	36	9930	c.9923C>A	c.(9922-9924)tCt>tAt	p.S3308Y	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3486Y|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S3308Y|DST_ENST00000446842.2_Missense_Mutation_p.S2982Y|DST_ENST00000312431.6_Missense_Mutation_p.S3308Y|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3308					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCATCTCAGATGTAGAACA	0.328																																																	0													51.0	47.0	48.0					6																	56468870		1833	4075	5908	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.9923C>A	6.37:g.56468870G>T	ENSP00000354508:p.Ser3308Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	12.99	2.103939	0.37145	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81659	-0.0;-0.0;0.95;-1.52;-0.03;-0.31	5.62	1.28	0.21552	.	1.414440	0.04844	N	0.441111	T	0.52191	0.1719	.	.	.	0.28131	N	0.930193	P	0.36959	0.575	B	0.34242	0.178	T	0.42464	-0.9450	8	0.41790	T	0.15	.	6.2701	0.20949	0.2816:0.2422:0.4761:0.0	.	2982	Q03001-9	.	Y	3486;3308;2982;3308;3308;2982	ENSP00000359790:S3486Y;ENSP00000359805:S3308Y;ENSP00000393645:S2982Y;ENSP00000307959:S3308Y;ENSP00000354508:S3308Y;ENSP00000404924:S2982Y	ENSP00000307959:S3308Y	S	-	2	0	DST	56576829	0.378000	0.25114	0.000000	0.03702	0.452000	0.32318	1.151000	0.31651	0.317000	0.23160	0.561000	0.74099	TCT		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
FBXW10	10517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18682177	18682177	+	Missense_Mutation	SNP	C	C	A	rs150642944		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:18682177C>A	ENST00000395665.4	+	14	2946	c.2725C>A	c.(2725-2727)Ccc>Acc	p.P909T	TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.P908T|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.P856T|FBXW10_ENST00000308799.4_Missense_Mutation_p.P918T			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	909								p.P908T(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTCCACCATACCCCAGCCCAT	0.502																																																	1	Substitution - Missense(1)	kidney(1)						C	THR/PRO	0,4406		0,0,2203	93.0	95.0	94.0		2722	3.6	0.9	17	dbSNP_134	94	1,8599		0,1,4299	no	missense	FBXW10	NM_031456.3	38	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	908/1052	18682177	1,13005	2203	4300	6503	SO:0001583	missense	10517			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2725C>A	17.37:g.18682177C>A	ENSP00000379025:p.Pro909Thr	Somatic		WXS	Illumina HiSeq	Phase_I	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717898	0.30413	0.0	1.16E-4	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	3.62	3.62	0.41486	.	0.000000	0.35646	U	0.003079	D	0.85535	0.5719	M	0.68593	2.085	0.41425	D	0.98782	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.994;0.999	D	0.87413	0.2377	10	0.87932	D	0	.	12.7698	0.57415	0.0:1.0:0.0:0.0	.	856;918;909;908	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	T	908;918;856;909	ENSP00000379026:P908T;ENSP00000310382:P918T;ENSP00000306937:P856T;ENSP00000379025:P909T	ENSP00000306937:P856T	P	+	1	0	FBXW10	18622902	1.000000	0.71417	0.926000	0.36857	0.088000	0.18126	5.162000	0.64942	1.813000	0.52934	0.411000	0.27672	CCC		0.502	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2		NM_031456	
FNIP2	57600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	159754698	159754698	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr4:159754698G>T	ENST00000264433.6	+	6	648	c.573G>T	c.(571-573)gaG>gaT	p.E191D	FNIP2_ENST00000379346.3_Missense_Mutation_p.E214D	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	191					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E191D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		ACAGCTTTGAGTACATCAACC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											110.0	104.0	106.0					4																	159754698		1861	4087	5948	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.573G>T	4.37:g.159754698G>T	ENSP00000264433:p.Glu191Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461587	0.43736	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346;ENST00000504715	T;T;T;T	0.40476	1.72;1.74;1.7;1.03	5.55	-0.986	0.10252	.	.	.	.	.	T	0.47303	0.1438	M	0.80028	2.48	0.41517	D	0.988377	P;B	0.40083	0.702;0.264	P;B	0.44447	0.45;0.209	T	0.48603	-0.9021	8	.	.	.	.	10.3658	0.44024	0.5745:0.0:0.4254:0.0	.	191;214	Q9P278;D6RFH5	FNIP2_HUMAN;.	D	191;214;214;26	ENSP00000264433:E191D;ENSP00000421488:E214D;ENSP00000368651:E214D;ENSP00000420841:E26D	.	E	+	3	2	FNIP2	159974148	0.999000	0.42202	0.990000	0.47175	0.992000	0.81027	0.598000	0.24074	-0.392000	0.07751	-0.302000	0.09304	GAG		0.398	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1		NM_020840	
GAGE10	643832	hgsc.bcm.edu	37	X	49173751	49173751	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chrX:49173751G>A	ENST00000407599.3	+	4	405	c.312G>A	c.(310-312)gtG>gtA	p.V104V		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	104										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CAGAGGAGGTGAAAAGGCCTG	0.473																																																	0													157.0	159.0	158.0					X																	49173751		2203	4300	6503	SO:0001819	synonymous_variant	643832					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.312G>A	X.37:g.49173751G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000407599.3	37	CCDS43938.1																																																																																				0.473	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1		NM_001098413	
HADHA	3030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	26435464	26435464	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:26435464T>C	ENST00000380649.3	-	10	1079	c.950A>G	c.(949-951)gAt>gGt	p.D317G	HADHA_ENST00000457468.2_Missense_Mutation_p.D230G	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	317					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.D230G(1)|p.D317G(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAACCGGCATCACTCCCTTG	0.358																																																	2	Substitution - Missense(2)	kidney(2)											125.0	116.0	119.0					2																	26435464		2203	4300	6503	SO:0001583	missense	3030			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.950A>G	2.37:g.26435464T>C	ENSP00000370023:p.Asp317Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	7.253	0.603655	0.14002	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.73469	-0.75;-0.75	5.32	4.15	0.48705	.	0.530450	0.22724	N	0.056407	T	0.66645	0.2810	L	0.47716	1.5	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.58295	-0.7661	10	0.48119	T	0.1	-34.6043	10.8653	0.46851	0.1413:0.0:0.0:0.8587	.	230;317;317	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	G	317;230	ENSP00000370023:D317G;ENSP00000405344:D230G	ENSP00000370023:D317G	D	-	2	0	HADHA	26288968	0.947000	0.32204	0.196000	0.23383	0.307000	0.27823	3.175000	0.50855	0.945000	0.37605	-0.336000	0.08194	GAT		0.358	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1		NM_000182	
LYPD4	147719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42341277	42341277	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr19:42341277G>A	ENST00000330743.3	-	5	1892	c.681C>T	c.(679-681)tcC>tcT	p.S227S	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.S192S|LYPD4_ENST00000601246.1_Silent_p.S192S	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	227						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S227S(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CTTGCCTGGAGGATGCTGCAC	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	133.0	137.0					19																	42341277		2203	4300	6503	SO:0001819	synonymous_variant	147719			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.681C>T	19.37:g.42341277G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYW0	Silent	SNP	ENST00000330743.3	37	CCDS12587.1																																																																																				0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1		NM_173506	
MAP4K3	8491	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39564108	39564108	+	Splice_Site	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:39564108C>T	ENST00000263881.3	-	6	691	c.367G>A	c.(367-369)Gga>Aga	p.G123R	MAP4K3_ENST00000437545.1_Splice_Site_p.G60R|MAP4K3_ENST00000341681.5_Splice_Site_p.G123R	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.G123R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATATAATCCCTGGAGTTTC	0.259																																																	1	Substitution - Missense(1)	kidney(1)											24.0	29.0	27.0					2																	39564108		2132	4190	6322	SO:0001630	splice_region_variant	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.367-1G>A	2.37:g.39564108C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747896	0.89663	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.38240	1.15;2.04;1.15	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85873	0.1417	9	.	.	.	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	123;123	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	R	123;60;123	ENSP00000263881:G123R;ENSP00000416958:G60R;ENSP00000345434:G123R	.	G	-	1	0	MAP4K3	39417612	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.275000	0.72594	2.787000	0.95880	0.650000	0.86243	GGA		0.259	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2		NM_003618	Missense_Mutation
MCHR2	84539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100390871	100390871	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr6:100390871C>A	ENST00000281806.2	-	4	855	c.541G>T	c.(541-543)Gtt>Ttt	p.V181F	MCHR2_ENST00000369212.2_Missense_Mutation_p.V181F	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V181F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAACTCTCAACACCGTCTTTA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											157.0	143.0	148.0					6																	100390871		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.541G>T	6.37:g.100390871C>A	ENSP00000281806:p.Val181Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	6.994	0.553609	0.13374	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.37752	1.18;1.18;1.18	5.05	0.973	0.19710	GPCR, rhodopsin-like superfamily (1);	0.735468	0.11832	N	0.525092	T	0.07279	0.0184	L	0.38838	1.175	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.39375	-0.9617	10	0.10111	T	0.7	.	3.7154	0.08435	0.3223:0.393:0.0:0.2847	.	181	Q969V1	MCHR2_HUMAN	F	181	ENSP00000403490:V181F;ENSP00000281806:V181F;ENSP00000358214:V181F	ENSP00000281806:V181F	V	-	1	0	MCHR2	100497592	0.265000	0.24102	0.003000	0.11579	0.803000	0.45373	0.734000	0.26101	0.253000	0.21552	-0.150000	0.13652	GTT		0.423	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2		NM_032503	
MEGF6	1953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	3519075	3519075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:3519075delT	ENST00000356575.4	-	2	447	c.221delA	c.(220-222)aagfs	p.K74fs		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	74	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACAGCCGGCCTTCCACACCGG	0.687																																					Ovarian(73;978 3658)												0													24.0	31.0	28.0					1																	3519075		2118	4216	6334	SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.221delA	1.37:g.3519075delT	ENSP00000348982:p.Lys74fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4AC86|Q5VV39	Frame_Shift_Del	DEL	ENST00000356575.4	37	CCDS41237.1																																																																																				0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409	
NCAM1	4684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	113133587	113133587	+	Silent	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr11:113133587T>C	ENST00000533760.1	+	17	2366	c.1767T>C	c.(1765-1767)tcT>tcC	p.S589S	NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GAGGCAATTCTGCATCCTACA	0.438																																																	0													157.0	153.0	154.0					11																	113133587		1926	4128	6054	SO:0001819	synonymous_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1767T>C	11.37:g.113133587T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37																																																																																					0.438	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2		NM_000615	
NXF5	55998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101092585	101092585	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chrX:101092585T>A	ENST00000361708.2	-	15	1320	c.961A>T	c.(961-963)Aac>Tac	p.N321Y	NXF5_ENST00000537026.1_Missense_Mutation_p.N321Y|NXF5_ENST00000473265.2_Missense_Mutation_p.N321Y			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	321	NTF2; truncated.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.N321Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GAGTCCACGTTTCGTGGACAT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											181.0	144.0	156.0					X																	101092585		2203	4300	6503	SO:0001583	missense	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.961A>T	X.37:g.101092585T>A	ENSP00000355286:p.Asn321Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37		.	.	.	.	.	.	.	.	.	.	.	7.839	0.721605	0.15372	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.42900	0.98;0.98;0.96	2.04	0.863	0.19062	.	0.147833	0.43579	U	0.000543	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.24701	0.055	T	0.14868	-1.0457	10	0.87932	D	0	.	4.0019	0.09584	0.0:0.3928:0.0:0.6072	.	321	A2RRM0	.	Y	321	ENSP00000442401:N321Y;ENSP00000426978:N321Y;ENSP00000355286:N321Y	ENSP00000263032:N321Y	N	-	1	0	NXF5	100979241	0.671000	0.27521	0.001000	0.08648	0.001000	0.01503	1.435000	0.34969	0.174000	0.19809	0.138000	0.15974	AAC		0.537	NXF5-201	KNOWN	basic	protein_coding	protein_coding				
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131245102	131245102	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr9:131245102T>C	ENST00000434106.3	+	10	1286	c.923T>C	c.(922-924)cTg>cCg	p.L308P	ODF2_ENST00000393533.2_Missense_Mutation_p.L308P|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000351030.3_Missense_Mutation_p.L303P|ODF2_ENST00000444119.2_Missense_Mutation_p.L284P|ODF2_ENST00000448249.3_Missense_Mutation_p.L227P|ODF2_ENST00000372814.3_Missense_Mutation_p.L352P|ODF2_ENST00000546203.1_Missense_Mutation_p.L289P|ODF2_ENST00000372791.3_Missense_Mutation_p.L289P|ODF2_ENST00000604420.1_Missense_Mutation_p.L308P|ODF2_ENST00000393527.3_Missense_Mutation_p.L284P|ODF2_ENST00000372807.5_Missense_Mutation_p.L303P	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	308					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L284P(1)|p.L308P(1)|p.L352P(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCGCCTGCTGTTACTGCTG	0.522																																																	3	Substitution - Missense(3)	kidney(3)											72.0	78.0	76.0					9																	131245102		2203	4300	6503	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.923T>C	9.37:g.131245102T>C	ENSP00000403453:p.Leu308Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788460	0.49997	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;1.9;0.9;0.9;0.9	5.66	4.53	0.55603	.	0.755955	0.12779	N	0.439847	T	0.36110	0.0955	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D;D;P;D;D;D	0.60575	0.967;0.966;0.967;0.928;0.988;0.959;0.941;0.967;0.966;0.966	P;P;P;P;P;P;P;P;P;P	0.50708	0.461;0.648;0.6;0.566;0.648;0.464;0.648;0.461;0.648;0.648	T	0.14200	-1.0481	10	0.39692	T	0.17	-8.6385	4.3418	0.11113	0.2705:0.0854:0.0:0.6441	.	289;303;227;242;308;352;303;289;308;284	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	P	308;352;303;308;284;227;289;289	ENSP00000377166:L308P;ENSP00000361901:L352P;ENSP00000342581:L303P;ENSP00000361882:L308P;ENSP00000307781:L284P;ENSP00000396687:L227P;ENSP00000437579:L289P;ENSP00000361877:L289P	ENSP00000307781:L284P	L	+	2	0	ODF2	130284923	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	1.870000	0.39529	2.153000	0.67306	0.459000	0.35465	CTG		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			
OR2B11	127623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247614532	247614532	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:247614532G>A	ENST00000318749.6	-	1	776	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I251I(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGGGAGACGATCATCAGGT	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											149.0	147.0	147.0					1																	247614532		2203	4300	6503	SO:0001819	synonymous_variant	127623				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.753C>T	1.37:g.247614532G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																				0.512	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1		NM_001004492	
OR4E2	26686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	22133740	22133740	+	Silent	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr14:22133740C>T	ENST00000408935.1	+	1	444	c.444C>T	c.(442-444)ctC>ctT	p.L148L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L148L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTTTGCTCTCTGGTTGGGGG	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											158.0	155.0	156.0					14																	22133740		2004	4168	6172	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.444C>T	14.37:g.22133740C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	CCDS41916.1																																																																																				0.478	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643743	52643743	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr3:52643743T>C	ENST00000296302.7	-	16	2154	c.2153A>G	c.(2152-2154)tAc>tGc	p.Y718C	PBRM1_ENST00000409767.1_Missense_Mutation_p.Y733C|PBRM1_ENST00000337303.4_Missense_Mutation_p.Y718C|PBRM1_ENST00000409057.1_Missense_Mutation_p.Y718C|PBRM1_ENST00000394830.3_Missense_Mutation_p.Y718C|PBRM1_ENST00000410007.1_Missense_Mutation_p.Y718C|PBRM1_ENST00000356770.4_Missense_Mutation_p.Y686C|PBRM1_ENST00000409114.3_Missense_Mutation_p.Y733C			Q86U86	PB1_HUMAN	polybromo 1	718	Bromo 5. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y718C(2)|p.Y686C(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AATATCTTGGTACTTGTTGGC	0.403			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											169.0	161.0	163.0					3																	52643743		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2153A>G	3.37:g.52643743T>C	ENSP00000296302:p.Tyr718Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.138620	0.77775	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	6.17	6.17	0.99709	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.92361	0.5897	10	0.87932	D	0	-9.0023	16.8222	0.85835	0.0:0.0:0.0:1.0	.	718;93;718;718;718;718;733;733;718;686;718	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	C	686;718;718;718;718;718;733;733;718;677	ENSP00000349213:Y686C;ENSP00000378307:Y718C;ENSP00000296302:Y718C;ENSP00000338302:Y718C;ENSP00000386593:Y718C;ENSP00000386529:Y718C;ENSP00000386643:Y733C;ENSP00000386601:Y733C;ENSP00000387775:Y718C;ENSP00000397662:Y677C	ENSP00000296302:Y718C	Y	-	2	0	PBRM1	52618783	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.013000	0.88655	2.371000	0.80710	0.533000	0.62120	TAC		0.403	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PC	5091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66619326	66619326	+	Silent	SNP	G	G	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr11:66619326G>A	ENST00000393958.2	-	15	2010	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393960.1_Silent_p.F639F|PC_ENST00000393955.2_Silent_p.F639F	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	639	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.F639F(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCAGCATCTGGAAAGGGATGT	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	68.0	70.0					11																	66619326		2200	4295	6495	SO:0001819	synonymous_variant	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1917C>T	11.37:g.66619326G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.637	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716	
PNLIP	5406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118305651	118305651	+	Splice_Site	SNP	G	G	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:118305651G>C	ENST00000369221.2	+	2	74		c.e2+1		PNLIP_ENST00000470562.1_Splice_Site	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.?(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GCAGTAGCAGGTAAGAAAACA	0.433																																																	2	Unknown(2)	kidney(2)											107.0	101.0	103.0					10																	118305651		2203	4300	6503	SO:0001630	splice_region_variant	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.46+1G>C	10.37:g.118305651G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VSQ2	Splice_Site	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947354	0.53186	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7802	0.69760	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIP	118295641	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.150000	0.58098	2.854000	0.98071	0.655000	0.94253	.		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1		NM_000936	Intron
PPP1R9B	84687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48212737	48212737	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:48212737C>G	ENST00000316878.6	-	12	2409	c.2407G>C	c.(2407-2409)Gaa>Caa	p.E803Q	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	803	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)	p.E802Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AAGTTTCCTTCCAGTTCTGAG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											119.0	125.0	123.0					17																	48212737		1920	4132	6052	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.2407G>C	17.37:g.48212737C>G	ENSP00000475417:p.Glu803Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37																																																																																					0.527	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032595	
PRKACB	5567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	84610143	84610143	+	Intron	SNP	C	C	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:84610143C>A	ENST00000370689.2	+	2	310				PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370688.3_Intron|PRKACB_ENST00000370685.3_Missense_Mutation_p.H33Q	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.H33Q(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTCATAGACACTCTAAAGGTA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											155.0	151.0	153.0					1																	84610143		2203	4300	6503	SO:0001627	intron_variant	5567			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.47-34717C>A	1.37:g.84610143C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183751	0.21870	.	.	ENSG00000142875	ENST00000370685	T	0.66460	-0.21	5.66	2.46	0.29980	.	0.321368	0.26836	N	0.022243	T	0.18173	0.0436	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17961	-1.0352	10	0.07175	T	0.84	-10.5873	7.8708	0.29565	0.0:0.5966:0.1191:0.2843	.	33;33	P22694-2;B4E2L0	.;.	Q	33	ENSP00000359719:H33Q	ENSP00000359719:H33Q	H	+	3	2	PRKACB	84382731	0.930000	0.31532	0.998000	0.56505	0.940000	0.58332	0.082000	0.14847	0.701000	0.31803	-0.150000	0.13652	CAC		0.403	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1		NM_182948	
RGL2	5863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33259932	33259932	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr6:33259932A>G	ENST00000497454.1	-	18	2776	c.2281T>C	c.(2281-2283)Tcc>Ccc	p.S761P	WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	761					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.S761P(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTGGGAAAGGAGCCCCCTCCT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											65.0	60.0	62.0					6																	33259932		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2281T>C	6.37:g.33259932A>G	ENSP00000420211:p.Ser761Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137629	0.56936	.	.	ENSG00000237441	ENST00000497454	T	0.12361	2.69	5.64	5.64	0.86602	.	0.071226	0.56097	D	0.000024	T	0.10380	0.0254	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.06698	-1.0812	10	0.62326	D	0.03	.	12.249	0.54587	1.0:0.0:0.0:0.0	.	761	O15211	RGL2_HUMAN	P	761	ENSP00000420211:S761P	ENSP00000420211:S761P	S	-	1	0	RGL2	33367910	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.340000	0.43974	2.138000	0.66242	0.523000	0.50628	TCC		0.597	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			
RQCD1	9125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219457120	219457120	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:219457120A>C	ENST00000273064.6	+	6	1009	c.634A>C	c.(634-636)Atc>Ctc	p.I212L	RQCD1_ENST00000542068.1_Missense_Mutation_p.I212L|RQCD1_ENST00000295701.5_Missense_Mutation_p.I212L|RQCD1_ENST00000509807.2_Missense_Mutation_p.I244L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	212					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I212L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTGCCATGATCTTGGTGAG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											275.0	246.0	256.0					2																	219457120		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.634A>C	2.37:g.219457120A>C	ENSP00000273064:p.Ile212Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625833	0.66901	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701;ENST00000418808	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.42245	1.32	0.80722	D	1	P;B;B	0.37636	0.603;0.155;0.036	P;P;P	0.51999	0.588;0.687;0.492	T	0.49051	-0.8979	10	0.42905	T	0.14	-17.8086	15.4877	0.75578	1.0:0.0:0.0:0.0	.	244;212;212	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	L	212;244;212;212;28	ENSP00000273064:I212L;ENSP00000441357:I244L;ENSP00000443687:I212L;ENSP00000295701:I212L;ENSP00000396938:I28L	ENSP00000273064:I212L	I	+	1	0	RQCD1	219165364	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.097000	0.94193	2.248000	0.74166	0.533000	0.62120	ATC		0.413	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1		NM_005444	
SEMA6D	80031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48054430	48054430	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr15:48054430T>G	ENST00000316364.5	+	8	1011	c.572T>G	c.(571-573)tTc>tGc	p.F191C	SEMA6D_ENST00000358066.4_Missense_Mutation_p.F191C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.F191C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.F191C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.F191C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.F191C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.F191C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.F191C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.F191C|SEMA6D_ENST00000355997.3_Missense_Mutation_p.F191C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.F191C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.F191C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	191	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F191C(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTGGCTGACTTCTTGGCCAGC	0.423																																																	2	Substitution - Missense(2)	kidney(2)											116.0	106.0	109.0					15																	48054430		2198	4297	6495	SO:0001583	missense	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.572T>G	15.37:g.48054430T>G	ENSP00000324857:p.Phe191Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.910193	0.92107	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;0.997;1.0;0.997	T	0.72033	-0.4412	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	191;191;191;191;191	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	191	ENSP00000442040:F191C;ENSP00000446152:F191C;ENSP00000324857:F191C;ENSP00000374084:F191C;ENSP00000374083:F191C;ENSP00000346786:F191C;ENSP00000350770:F191C;ENSP00000374079:F191C;ENSP00000348276:F191C;ENSP00000374076:F191C	ENSP00000324857:F191C	F	+	2	0	SEMA6D	45841722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	TTC		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966	
SEPT11	55752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77932908	77932908	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr4:77932908A>G	ENST00000264893.6	+	4	560	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	SEPT11_ENST00000510515.1_Missense_Mutation_p.Y130C|SEPT11_ENST00000502584.1_Missense_Mutation_p.Y120C|SEPT11_ENST00000541121.1_Missense_Mutation_p.Y130C|SEPT11_ENST00000505788.1_Missense_Mutation_p.Y120C|SEPT11_ENST00000512575.1_Intron	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	120	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.Y120C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						ATAGTAGAATATATTGATGCC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											129.0	118.0	122.0					4																	77932908		2203	4300	6503	SO:0001583	missense	55752			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.359A>G	4.37:g.77932908A>G	ENSP00000264893:p.Tyr120Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	CCDS34018.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625245	0.66901	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000512778;ENST00000541121	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000006	T	0.78635	0.4314	H	0.99011	4.4	0.50813	D	0.999896	P;P	0.40731	0.681;0.728	P;P	0.49999	0.495;0.628	D	0.86363	0.1718	10	0.87932	D	0	.	14.0613	0.64802	1.0:0.0:0.0:0.0	.	130;120	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	C	120;120;112;120;130;130;130	ENSP00000264893:Y120C;ENSP00000426344:Y120C;ENSP00000420839:Y112C;ENSP00000424925:Y120C;ENSP00000422896:Y130C;ENSP00000422047:Y130C;ENSP00000443701:Y130C	ENSP00000264893:Y120C	Y	+	2	0	SEPT11	78151932	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.805000	0.62561	1.796000	0.52611	0.383000	0.25322	TAT		0.428	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1		NM_018243	
SLC19A3	80704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228564091	228564091	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:228564091C>A	ENST00000258403.3	-	3	411	c.340G>T	c.(340-342)Ggg>Tgg	p.G114W	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G110W	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	114					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.G114W(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GTGACCATCCCATAGAAGAAC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											101.0	101.0	101.0					2																	228564091		2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.340G>T	2.37:g.228564091C>A	ENSP00000258403:p.Gly114Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578035	0.65878	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	D;D;T	0.90504	-2.68;-2.68;-1.08	5.8	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.045807	0.85682	D	0.000000	D	0.96546	0.8873	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.989;1.0	D	0.97487	1.0051	10	0.87932	D	0	-16.9347	14.6008	0.68441	0.0:0.9302:0.0:0.0698	.	110;114	F5H2M8;Q9BZV2	.;S19A3_HUMAN	W	114;110;114	ENSP00000258403:G114W;ENSP00000445519:G110W;ENSP00000399001:G114W	ENSP00000258403:G114W	G	-	1	0	SLC19A3	228272335	0.997000	0.39634	0.149000	0.22428	0.377000	0.30045	6.079000	0.71291	1.454000	0.47793	0.655000	0.94253	GGG		0.547	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			
STAM	8027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17750824	17750824	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:17750824C>T	ENST00000377524.3	+	13	1474	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V	STAM_ENST00000540523.1_Missense_Mutation_p.A309V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	420					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.A420V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAGGGAACGCGCAGATGAGC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											90.0	89.0	89.0					10																	17750824		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1259C>T	10.37:g.17750824C>T	ENSP00000366746:p.Ala420Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743665	0.15642	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39406	1.37;1.08	5.82	4.91	0.64330	.	0.270759	0.35525	N	0.003143	T	0.34803	0.0910	L	0.57536	1.79	0.44079	D	0.996833	P;P	0.45428	0.858;0.571	B;B	0.31869	0.137;0.04	T	0.22417	-1.0217	10	0.17369	T	0.5	-11.1172	16.8978	0.86105	0.0:0.8717:0.1283:0.0	.	309;420	B4DZT2;Q92783	.;STAM1_HUMAN	V	420;309	ENSP00000366746:A420V;ENSP00000438073:A309V	ENSP00000366746:A420V	A	+	2	0	STAM	17790830	0.998000	0.40836	0.062000	0.19696	0.188000	0.23474	4.143000	0.58051	1.442000	0.47568	0.591000	0.81541	GCG		0.522	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1		NM_003473	
TMCO6	55374	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140024201	140024201	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr5:140024201A>G	ENST00000394671.3	+	11	1345	c.1244A>G	c.(1243-1245)tAc>tGc	p.Y415C	TMCO6_ENST00000537378.1_Missense_Mutation_p.Y175C|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.Y421C	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	415					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.Y415C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCTGCTTACTGCCAGCGG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											142.0	135.0	137.0					5																	140024201		1919	4136	6055	SO:0001583	missense	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1244A>G	5.37:g.140024201A>G	ENSP00000378166:p.Tyr415Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321726	0.81580	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.66995	-0.24;-0.24;-0.24	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.75488	0.3856	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.76629	-0.2889	10	0.54805	T	0.06	-8.803	16.227	0.82300	1.0:0.0:0.0:0.0	.	421;415	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	C	415;175;421	ENSP00000378166:Y415C;ENSP00000444474:Y175C;ENSP00000252100:Y421C	ENSP00000252100:Y421C	Y	+	2	0	TMCO6	140004385	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.328000	0.59253	2.302000	0.77476	0.533000	0.62120	TAC		0.488	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2		NM_018502	
TMIGD2	126259	hgsc.bcm.edu	37	19	4294602	4294603	+	Frame_Shift_Ins	INS	-	-	G	rs370727587	byFrequency	TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr19:4294602_4294603insG	ENST00000301272.2	-	4	568_569	c.523_524insC	c.(523-525)cgcfs	p.R175fs	TMIGD2_ENST00000600114.1_Frame_Shift_Ins_p.R55fs|TMIGD2_ENST00000595645.1_Frame_Shift_Ins_p.R175fs|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	175					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGCGGCGGCCCCAGAAC	0.624																																																	0																																										SO:0001589	frameshift_variant	126259			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.524dupC	19.37:g.4294604_4294604dupG	ENSP00000301272:p.Arg175fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UW59	Frame_Shift_Ins	INS	ENST00000301272.2	37	CCDS12126.1																																																																																				0.624	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1		NM_144615	
TPTE2	93492	broad.mit.edu;hgsc.bcm.edu	37	13	20024477	20024477	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr13:20024477T>G	ENST00000400230.2	-	12	854	c.810A>C	c.(808-810)agA>agC	p.R270S	TPTE2_ENST00000400103.2_Missense_Mutation_p.R159S|TPTE2_ENST00000382977.4_Missense_Mutation_p.R270S|TPTE2_ENST00000382975.4_Missense_Mutation_p.R230S|TPTE2_ENST00000390680.2_Missense_Mutation_p.R193S|TPTE2_ENST00000457266.2_Missense_Mutation_p.R159S|TPTE2_ENST00000382978.1_Missense_Mutation_p.R230S|TPTE2_ENST00000255310.6_Missense_Mutation_p.R193S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	270	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R193S(1)|p.R270S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GATCATAAGCTCTTTCACCTA	0.299																																																	2	Substitution - Missense(2)	kidney(2)											42.0	48.0	46.0					13																	20024477		2193	4261	6454	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.810A>C	13.37:g.20024477T>G	ENSP00000383089:p.Arg270Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	8.903	0.956846	0.18507	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	2.76	0.256	0.15567	Phosphatase tensin type (1);	0.160143	0.53938	D	0.000049	T	0.36386	0.0965	M	0.88241	2.94	0.29845	N	0.828939	P;P;P	0.42941	0.474;0.501;0.794	B;B;B	0.41764	0.261;0.139;0.366	T	0.37957	-0.9683	9	.	.	.	-6.0508	5.9468	0.19223	0.0:0.2576:0.0:0.7424	.	159;193;270	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	230;159;270;193;193;270;230;159;270;139	ENSP00000372438:R230S;ENSP00000382974:R159S;ENSP00000383089:R270S;ENSP00000255310:R193S;ENSP00000375098:R193S;ENSP00000372437:R270S;ENSP00000372435:R230S;ENSP00000442218:R159S	.	R	-	3	2	TPTE2	18922477	1.000000	0.71417	0.083000	0.20561	0.035000	0.12851	2.545000	0.45769	0.062000	0.16340	-0.540000	0.04249	AGA		0.299	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254	
VEZF1	7716	broad.mit.edu;hgsc.bcm.edu	37	17	56060482	56060482	+	Silent	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:56060482C>T	ENST00000581208.1	-	2	346	c.306G>A	c.(304-306)gtG>gtA	p.V102V	VEZF1_ENST00000584396.1_Silent_p.V93V	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	102					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V102V(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TTGGCCGGGACACCAACTTGA	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	99.0	99.0					17																	56060482		2203	4300	6503	SO:0001819	synonymous_variant	7716			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.306G>A	17.37:g.56060482C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000581208.1	37	CCDS32687.1																																																																																				0.537	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			
WDR92	116143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	68371743	68371743	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr2:68371743G>T	ENST00000295121.6	-	3	505	c.389C>A	c.(388-390)cCt>cAt	p.P130H	WDR92_ENST00000406245.2_Missense_Mutation_p.P29H|WDR92_ENST00000409164.1_Missense_Mutation_p.P130H|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	130					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)	p.P130H(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAATTTCAGGTGCTCCTTC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											134.0	133.0	133.0					2																	68371743		2203	4300	6503	SO:0001583	missense	116143			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.389C>A	2.37:g.68371743G>T	ENSP00000295121:p.Pro130His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823778	0.90873	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.61274	0.12;0.12;0.12	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.77465	0.4134	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75252	-0.3383	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	130	Q96MX6	WDR92_HUMAN	H	130;29;130	ENSP00000295121:P130H;ENSP00000384518:P29H;ENSP00000386746:P130H	ENSP00000295121:P130H	P	-	2	0	WDR92	68225247	1.000000	0.71417	0.898000	0.35279	0.956000	0.61745	7.603000	0.82811	2.937000	0.99478	0.650000	0.86243	CCT		0.398	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2		NM_138458	
ZFYVE16	9765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79769670	79769670	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr5:79769670T>A	ENST00000338008.5	+	16	4465	c.4285T>A	c.(4285-4287)Tgt>Agt	p.C1429S	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.C1429S|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.C1429S	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1429					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.C1429S(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GATTGTAAAATGTACCGAGGT	0.333																																					Melanoma(150;1452 1854 16018 17851 37292)												1	Substitution - Missense(1)	kidney(1)											58.0	62.0	61.0					5																	79769670		2203	4298	6501	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4285T>A	5.37:g.79769670T>A	ENSP00000337159:p.Cys1429Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772769	0.69992	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.38887	1.11;1.11;1.11	5.97	5.97	0.96955	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000007	T	0.62829	0.2460	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.63046	0.991;0.992	D;D	0.72338	0.909;0.977	T	0.65504	-0.6152	10	0.72032	D	0.01	-11.6822	14.6833	0.69033	0.0:0.0:0.0:1.0	.	239;1429	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	S	1429	ENSP00000337159:C1429S;ENSP00000423663:C1429S;ENSP00000426848:C1429S	ENSP00000337159:C1429S	C	+	1	0	ZFYVE16	79805426	1.000000	0.71417	0.998000	0.56505	0.490000	0.33462	6.680000	0.74518	2.285000	0.76669	0.477000	0.44152	TGT		0.333	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2		NM_014733	
ZRANB1	54764	hgsc.bcm.edu	37	10	126673560	126673561	+	Stop_Codon_Ins	INS	-	-	A	rs74898717|rs76372220|rs535580590|rs112752280	byFrequency	TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:126673560_126673561insA	ENST00000359653.4	+	0	2497_2498					NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.*709fs?(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GAAGATGAATGAAAAAAAAAAT	0.45													|||unknown(HR)	330	0.0658946	0.0469	0.1715	5008	,	,		20362	0.0129		0.1004	False		,,,				2504	0.0358																1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001567	stop_retained_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.2134dupA	10.37:g.126673570_126673570dupA		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Ins	INS	ENST00000359653.4	37	CCDS7642.1																																																																																				0.450	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580	
ABCA10	10349	broad.mit.edu	37	17	67189255	67189255	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr17:67189255C>G	ENST00000269081.4	-	16	2685	c.1776G>C	c.(1774-1776)ttG>ttC	p.L592F	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	592	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L592F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AATCACCAGCCAAGATGTCAG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											102.0	96.0	98.0					17																	67189255		2203	4300	6503	SO:0001583	missense	10349			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1776G>C	17.37:g.67189255C>G	ENSP00000269081:p.Leu592Phe	Somatic		WXS	Illumina GAIIx	Phase_I	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739611	0.49045	.	.	ENSG00000154263	ENST00000269081	T	0.80566	-1.39	3.45	-6.85	0.01681	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.84727	0.5536	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84558	0.0648	9	0.87932	D	0	.	7.4806	0.27402	0.5722:0.2604:0.0:0.1673	.	592;592	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	F	592	ENSP00000269081:L592F	ENSP00000269081:L592F	L	-	3	2	ABCA10	64700850	0.000000	0.05858	0.067000	0.19924	0.986000	0.74619	-6.017000	0.00085	-0.994000	0.03463	0.563000	0.77884	TTG		0.393	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282	
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329																0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																					0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1		NR_026752.1	
FCGBP	8857	broad.mit.edu	37	19	40398046	40398046	+	Silent	SNP	A	A	G			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr19:40398046A>G	ENST00000221347.6	-	14	6928	c.6921T>C	c.(6919-6921)tgT>tgC	p.C2307C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2307						extracellular vesicular exosome (GO:0070062)		p.C2307C(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACTGCAGGACAGAGGCCTC	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											25.0	27.0	26.0					19																	40398046		2117	3799	5916	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6921T>C	19.37:g.40398046A>G		Somatic		WXS	Illumina GAIIx	Phase_I	O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890	
LDB3	11155	broad.mit.edu	37	10	88466360	88466360	+	Silent	SNP	A	A	C			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr10:88466360A>C	ENST00000361373.4	+	7	990	c.969A>C	c.(967-969)ccA>ccC	p.P323P	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000352360.5_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3									p.P323P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCCAGCCACCTGCTGCTG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	66.0	64.0					10																	88466360		2203	4293	6496	SO:0001819	synonymous_variant	11155			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.969A>C	10.37:g.88466360A>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000361373.4	37	CCDS7377.1																																																																																				0.667	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			
Unknown	0	broad.mit.edu	37	9	66499888	66499888	+	IGR	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr9:66499888C>T								RP11-262H14.1 (30578 upstream) : RP11-262H14.7 (17317 downstream)																							GTGACCATCGCCATGTACATG	0.562																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499888C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.562									
Unknown	0	broad.mit.edu	37	9	66499904	66499904	+	IGR	SNP	C	C	T	rs372946348		TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr9:66499904C>T								RP11-262H14.1 (30594 upstream) : RP11-262H14.7 (17301 downstream)																							ACATGAAGGGCGGGTAACCTG	0.542																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499904C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP		37																																																																																				0	0.542									
MAML2	84441	broad.mit.edu	37	11	96074938	96074938	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5200-01A-01D-1429-08	TCGA-BP-5200-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73d194ce-21db-4b63-9636-d5f4bcbe56de	b801e629-c6f9-454c-a3e5-7fd57f8b1b0b	g.chr11:96074938C>T	ENST00000524717.1	-	1	1406	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	41					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R41Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GATCCGAGCCCGGAGGCGCTC	0.662			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											18.0	20.0	19.0					11																	96074938		2039	4196	6235	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.122G>A	11.37:g.96074938C>T	ENSP00000434552:p.Arg41Gln	Somatic	1317	WXS	Illumina GAIIx	Phase_I	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230548	0.79688	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.71698	-0.59;-0.59	4.78	4.78	0.61160	Neurogenic mastermind-like, N-terminal (1);	.	.	.	.	T	0.81216	0.4776	L	0.54323	1.7	0.36252	D	0.853961	D	0.89917	1.0	D	0.87578	0.998	D	0.85975	0.1479	9	0.62326	D	0.03	.	16.6146	0.84903	0.0:1.0:0.0:0.0	.	41	Q8IZL2	MAML2_HUMAN	Q	41	ENSP00000434552:R41Q;ENSP00000412394:R41Q	ENSP00000412394:R41Q	R	-	2	0	MAML2	95714586	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.193000	0.72075	2.225000	0.72522	0.561000	0.74099	CGG		0.662	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			
