#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
ACP2	53	hgsc.bcm.edu;ucsc.edu	37	11	47267291	47267291	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:47267291T>A	ENST00000256997.3	-	4	508	c.392A>T	c.(391-393)aAc>aTc	p.N131I	ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000527256.1_Missense_Mutation_p.N99I|ACP2_ENST00000533929.1_Missense_Mutation_p.N103I|ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000530453.1_Missense_Mutation_p.N131I|ACP2_ENST00000444355.2_Missense_Mutation_p.N131I|ACP2_ENST00000529444.1_Missense_Mutation_p.N131I	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	131					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GATGTTCGGGTTGAAGCGCTG	0.592																																					Melanoma(90;262 1440 11488 44828 48531)												0													108.0	97.0	101.0					11																	47267291		2201	4298	6499	SO:0001583	missense	53			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.392A>T	11.37:g.47267291T>A	ENSP00000256997:p.Asn131Ile	Somatic		WXS	Illumina HiSeq	Phase_I	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295636	0.81025	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000540414;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.79	5.79	0.91817	.	0.275515	0.44483	D	0.000442	T	0.59715	0.2214	M	0.88105	2.93	0.80722	D	1	D;D;D;P;D;D	0.76494	0.999;0.984;0.966;0.938;0.98;0.984	D;D;D;P;D;D	0.73380	0.979;0.98;0.934;0.898;0.921;0.953	T	0.67221	-0.5725	10	0.87932	D	0	.	11.2031	0.48754	0.0:0.0711:0.0:0.9289	.	131;131;99;103;121;131	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;F5H1S6;P11117	.;.;.;.;.;PPAL_HUMAN	I	131;131;99;121;103;131;131;131	ENSP00000256997:N131I;ENSP00000436658:N131I;ENSP00000432205:N99I;ENSP00000432439:N103I;ENSP00000436487:N131I;ENSP00000434205:N131I;ENSP00000414911:N131I	ENSP00000256997:N131I	N	-	2	0	ACP2	47223867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.025000	0.49681	2.208000	0.71279	0.533000	0.62120	AAC		0.592	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2		NM_001610	
IGHJ6	28475	broad.mit.edu	37	14	106331329	106331329	+	RNA	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr14:106331329C>A	ENST00000390560.2	-	0	0				IGHD7-27_ENST00000439842.1_RNA|IGHJ3_ENST00000463911.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA					immunoglobulin heavy joining 6																		TCAGGCCAGACCCAGGCCGGC	0.677																																																	0																																												8755			J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106331329C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	SNP	ENST00000390560.2	37																																																																																					0.677	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1		NG_001019	
AKR1B1	231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134143812	134143812	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:134143812C>T	ENST00000285930.4	-	1	82	c.3G>A	c.(1-3)atG>atA	p.M1I	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	1					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)	p.M1I(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	GACGGCTTGCCATGGCTGCTG	0.692											OREG0018334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											30.0	23.0	26.0					7																	134143812		2202	4297	6499	SO:0001582	initiator_codon_variant	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.3G>A	7.37:g.134143812C>T	ENSP00000285930:p.Met1Ile	Somatic	1608	WXS	Illumina HiSeq	Phase_I	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439036	0.63067	.	.	ENSG00000085662	ENST00000285930	T	0.18657	2.2	5.35	5.35	0.76521	.	0.075342	0.85682	D	0.000000	T	0.45256	0.1333	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42531	-0.9446	9	0.87932	D	0	.	11.5249	0.50573	0.0:0.9184:0.0:0.0816	.	1	P15121	ALDR_HUMAN	I	1	ENSP00000285930:M1I	ENSP00000285930:M1I	M	-	3	0	AKR1B1	133794352	1.000000	0.71417	0.993000	0.49108	0.032000	0.12392	6.493000	0.73658	2.518000	0.84900	0.561000	0.74099	ATG		0.692	AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2		NM_001628	Missense_Mutation
AMZ2	51321	broad.mit.edu;hgsc.bcm.edu	37	17	66251944	66251944	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr17:66251944C>A	ENST00000359904.3	+	6	1986	c.854C>A	c.(853-855)cCt>cAt	p.P285H	AMZ2_ENST00000577985.1_Missense_Mutation_p.P285H|AMZ2_ENST00000359783.4_Missense_Mutation_p.P227H|AMZ2_ENST00000577866.1_Missense_Mutation_p.P285H|AMZ2_ENST00000392720.2_Missense_Mutation_p.P285H|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.P285H	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	285							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P227H(1)|p.P285H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GACCGGCGCCCTCTAAACCTT	0.498																																																	2	Substitution - Missense(2)	kidney(2)											77.0	73.0	75.0					17																	66251944		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.854C>A	17.37:g.66251944C>A	ENSP00000352976:p.Pro285His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540317	0.65085	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.72942	-0.7;-0.7;-0.7	3.64	2.63	0.31362	.	0.077420	0.50627	N	0.000104	D	0.85164	0.5634	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86800	0.1991	10	0.87932	D	0	-13.898	10.4937	0.44764	0.1955:0.8045:0.0:0.0	.	227;285	A6NLD9;Q86W34	.;AMZ2_HUMAN	H	285;227;285	ENSP00000352976:P285H;ENSP00000352831:P227H;ENSP00000376481:P285H	ENSP00000352831:P227H	P	+	2	0	AMZ2	63763539	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	6.355000	0.73041	1.050000	0.40346	0.467000	0.42956	CCT		0.498	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1		NM_016627	
ANKK1	255239	broad.mit.edu	37	11	113270770	113270770	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:113270770G>T	ENST00000303941.3	+	8	2173	c.2079G>T	c.(2077-2079)tgG>tgT	p.W693C		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	693							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.W693C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGGTGGGCTGGACACCCGCCC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											34.0	41.0	38.0					11																	113270770		2041	4173	6214	SO:0001583	missense	255239			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2079G>T	11.37:g.113270770G>T	ENSP00000306678:p.Trp693Cys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	8.430	0.848292	0.17034	.	.	ENSG00000170209	ENST00000303941	T	0.64438	-0.1	4.42	3.48	0.39840	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000043	T	0.74772	0.3760	M	0.70108	2.13	0.52099	D	0.999948	D	0.76494	0.999	D	0.66847	0.947	T	0.74680	-0.3584	10	0.38643	T	0.18	-2.458	13.3847	0.60789	0.0:0.1593:0.8407:0.0	.	693	Q8NFD2	ANKK1_HUMAN	C	693	ENSP00000306678:W693C	ENSP00000306678:W693C	W	+	3	0	ANKK1	112775980	1.000000	0.71417	0.994000	0.49952	0.162000	0.22319	2.133000	0.42093	1.053000	0.40415	0.514000	0.50259	TGG		0.632	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1		NM_178510	
ANKRD26P1	124149	broad.mit.edu	37	16	46533886	46533886	+	RNA	DEL	T	T	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:46533886delT	ENST00000571006.1	-	0	1028							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TTATACAATCTTTTTTTTATG	0.264																																																	0																																												124149			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46533886delT		Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000571006.1	37																																																																																					0.264	ANKRD26P1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437932.1		NR_026556	
ATE1	11101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	123683801	123683801	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:123683801G>A	ENST00000224652.6	-	2	235	c.150C>T	c.(148-150)ctC>ctT	p.L50L	ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000540606.1_Silent_p.L43L|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000369043.3_Silent_p.L50L	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	50					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.L50L(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTCGGTCTATGAGATCCTGAT	0.393																																																	2	Substitution - coding silent(2)	kidney(2)											201.0	183.0	190.0					10																	123683801		2203	4300	6503	SO:0001819	synonymous_variant	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.150C>T	10.37:g.123683801G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343538	0.24339	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.96	-7.01	0.01594	.	.	.	.	.	T	0.53351	0.1791	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58803	-0.7572	4	.	.	.	-18.4773	11.6326	0.51185	0.2135:0.2064:0.5801:0.0	.	.	.	.	Y	47	.	.	H	-	1	0	ATE1	123673791	0.003000	0.15002	0.766000	0.31476	0.991000	0.79684	-1.794000	0.01753	-1.427000	0.01992	-0.302000	0.09304	CAT		0.393	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001001976	
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113464970	113464970	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:113464970C>T	ENST00000487903.1	+	5	459	c.371C>T	c.(370-372)gCc>gTc	p.A124V	ATP11A_ENST00000375645.3_Missense_Mutation_p.A124V|ATP11A_ENST00000375630.2_Missense_Mutation_p.A124V|ATP11A_ENST00000283558.8_Missense_Mutation_p.A124V			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	124					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A124V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCAGACAATGCCATGAACCAG	0.483																																																	2	Substitution - Missense(2)	kidney(2)											146.0	129.0	135.0					13																	113464970		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.371C>T	13.37:g.113464970C>T	ENSP00000420387:p.Ala124Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.659097|3.659097	0.67586|0.67586	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.90324|.	-2.65;-2.65;-2.65;-2.65|.	4.83|4.83	4.83|4.83	0.62350|0.62350	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.057087|.	0.64402|.	D|.	0.000001|.	T|T	0.49355|0.49355	0.1552|0.1552	N|N	0.16201|0.16201	0.385|0.385	0.45914|0.45914	D|D	0.998758|0.998758	B;B|.	0.22346|.	0.068;0.038|.	B;B|.	0.26614|.	0.071;0.071|.	T|T	0.45338|0.45338	-0.9268|-0.9268	10|5	0.52906|.	T|.	0.07|.	.|.	17.0821|17.0821	0.86601|0.86601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124;124|.	E9PEJ6;P98196|.	.;AT11A_HUMAN|.	V|S	124|99	ENSP00000420387:A124V;ENSP00000364781:A124V;ENSP00000364796:A124V;ENSP00000283558:A124V|.	ENSP00000283558:A124V|.	A|P	+|+	2|1	0|0	ATP11A|ATP11A	112512971|112512971	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.930000|0.930000	0.56654|0.56654	3.613000|3.613000	0.54152|0.54152	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.483	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205	
BOD1L1	259282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	13601273	13601274	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:13601273_13601274delAG	ENST00000040738.5	-	10	7385_7386	c.7250_7251delCT	c.(7249-7251)tctfs	p.S2417fs		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2417						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTGCCCTGCAGAGGGCTTGTG	0.584																																																	0																																										SO:0001589	frameshift_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7250_7251delCT	4.37:g.13601275_13601276delAG	ENSP00000040738:p.Ser2417fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Frame_Shift_Del	DEL	ENST00000040738.5	37	CCDS3411.2																																																																																				0.584	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1		NM_148894	
BRD1	23774	broad.mit.edu;hgsc.bcm.edu	37	22	50187904	50187904	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr22:50187904C>T	ENST00000216267.8	-	6	2623	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S	BRD1_ENST00000457780.2_Missense_Mutation_p.G713S|BRD1_ENST00000542442.1_Missense_Mutation_p.G401S|BRD1_ENST00000404034.1_Missense_Mutation_p.G713S|BRD1_ENST00000342989.5_Missense_Mutation_p.G308S|BRD1_ENST00000404760.1_Missense_Mutation_p.G713S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	713					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.G308S(1)|p.G713S(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTCCAGGCCCAGGTGGGCT	0.597																																																	2	Substitution - Missense(2)	kidney(2)											62.0	66.0	65.0					22																	50187904		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2137G>A	22.37:g.50187904C>T	ENSP00000216267:p.Gly713Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	7.624	0.677490	0.14841	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.25250	2.75;2.75;2.79;2.62;1.81;2.26	5.4	-3.46	0.04767	.	0.623994	0.18309	N	0.145173	T	0.03136	0.0092	N	0.00246	-1.78	0.23430	N	0.997696	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.39502	-0.9611	10	0.02654	T	1	.	1.9391	0.03342	0.162:0.3498:0.096:0.3921	.	713;308;713;713	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	713;713;713;713;401;308;173	ENSP00000216267:G713S;ENSP00000384076:G713S;ENSP00000385858:G713S;ENSP00000410042:G713S;ENSP00000437514:G401S;ENSP00000345886:G308S	ENSP00000216267:G713S	G	-	1	0	BRD1	48573908	0.992000	0.36948	0.508000	0.27688	0.964000	0.63967	0.448000	0.21726	-0.125000	0.11703	-0.136000	0.14681	GGC		0.597	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1		NM_014577	
BRD4	23476	hgsc.bcm.edu;ucsc.edu	37	19	15376312	15376314	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	GAC	GAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:15376312_15376314delGAC	ENST00000263377.2	-	5	921_923	c.700_702delGTC	c.(700-702)gtcdel	p.V234del	BRD4_ENST00000360016.5_In_Frame_Del_p.V234del|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_In_Frame_Del_p.V234del	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	234					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CAGGGGTCTGGACGATGAGGTCC	0.695			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0																																										SO:0001651	inframe_deletion	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.700_702delGTC	19.37:g.15376312_15376314delGAC	ENSP00000263377:p.Val234del	Somatic		WXS	Illumina HiSeq	Phase_I	O60433|Q4G0X8|Q86YS8|Q96PD3	In_Frame_Del	DEL	ENST00000263377.2	37	CCDS12328.1																																																																																				0.695	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243	
BRD4	23476	hgsc.bcm.edu	37	19	15376316	15376316	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:15376316A>T	ENST00000263377.2	-	5	919	c.698T>A	c.(697-699)aTc>aAc	p.I233N	BRD4_ENST00000360016.5_Missense_Mutation_p.I233N|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.I233N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	233					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTCTGGACGATGAGGTCCGG	0.687			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													98.0	109.0	105.0					19																	15376316		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.698T>A	19.37:g.15376316A>T	ENSP00000263377:p.Ile233Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740220	0.69304	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.29655	1.56;3.27;3.25	5.28	4.27	0.50696	.	0.000000	0.64402	D	0.000008	T	0.46444	0.1393	L	0.54323	1.7	0.35785	D	0.821971	B;D;B	0.60575	0.003;0.988;0.023	B;D;B	0.72338	0.001;0.977;0.01	T	0.53613	-0.8414	10	0.35671	T	0.21	-19.2362	10.3682	0.44038	0.9208:0.0:0.0792:0.0	.	233;233;233	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	233	ENSP00000263377:I233N;ENSP00000360901:I233N;ENSP00000353112:I233N	ENSP00000263377:I233N	I	-	2	0	BRD4	15237316	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.268000	0.65536	0.952000	0.37798	0.379000	0.24179	ATC		0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		NM_058243	
BRD9	65980	broad.mit.edu;hgsc.bcm.edu	37	5	891953	891953	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:891953G>A	ENST00000467963.1	-	2	235	c.69C>T	c.(67-69)ccC>ccT	p.P23P	BRD9_ENST00000435709.2_5'UTR|BRD9_ENST00000388890.4_5'Flank|BRD9_ENST00000323510.4_5'Flank|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000483173.1_5'UTR	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	23					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.P23P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCTTCTCCAGGGGCTTGTCGG	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	64.0	66.0					5																	891953		692	1591	2283	SO:0001819	synonymous_variant	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.69C>T	5.37:g.891953G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	CCDS34127.2																																																																																				0.557	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1		NM_023924	
ELMSAN1	91748	broad.mit.edu	37	14	74205845	74205845	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr14:74205845G>A	ENST00000286523.5	-	2	1649	c.867C>T	c.(865-867)ggC>ggT	p.G289G	ELMSAN1_ENST00000394071.2_Silent_p.G289G|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	289	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G289G(1)									CTGGCTGCAGGCCAAAGTCCT	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											28.0	29.0	29.0					14																	74205845		2203	4300	6503	SO:0001819	synonymous_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.867C>T	14.37:g.74205845G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	CCDS9819.1																																																																																				0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278	
CACNB2	783	hgsc.bcm.edu	37	10	18827236	18827237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:18827236_18827237insC	ENST00000324631.7	+	13	1490_1491	c.1430_1431insC	c.(1429-1434)agccgtfs	p.R478fs	CACNB2_ENST00000377329.4_Frame_Shift_Ins_p.R424fs|CACNB2_ENST00000377315.4_Frame_Shift_Ins_p.R430fs|CACNB2_ENST00000377331.2_Frame_Shift_Ins_p.R426fs|CACNB2_ENST00000377319.3_Frame_Shift_Ins_p.R385fs|CACNB2_ENST00000282343.8_Frame_Shift_Ins_p.R450fs|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Frame_Shift_Ins_p.R228fs|CACNB2_ENST00000396576.2_Frame_Shift_Ins_p.R423fs|CACNB2_ENST00000352115.6_Frame_Shift_Ins_p.R454fs	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	478					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTCCTTAGCCGTACATTAG	0.495																																																	0																																										SO:0001589	frameshift_variant	783			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1432dupC	10.37:g.18827238_18827238dupC	ENSP00000320025:p.Arg478fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Frame_Shift_Ins	INS	ENST00000324631.7	37	CCDS7125.1																																																																																				0.495	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2		NM_000724	
CAD	790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27456649	27456649	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:27456649C>T	ENST00000403525.1	+	20	3327	c.3183C>T	c.(3181-3183)gtC>gtT	p.V1061V	CAD_ENST00000264705.4_Silent_p.V1124V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.V1124V(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGTGGTCATCTCCAAGT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	55.0	54.0					2																	27456649		2203	4300	6503	SO:0001819	synonymous_variant	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3183C>T	2.37:g.27456649C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37																																																																																					0.587	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			
CCAR1	55749	broad.mit.edu;ucsc.edu	37	10	70502139	70502139	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:70502139G>T	ENST00000265872.6	+	6	450	c.331G>T	c.(331-333)Gtt>Ttt	p.V111F	CCAR1_ENST00000543719.1_Missense_Mutation_p.V96F|CCAR1_ENST00000535016.1_Missense_Mutation_p.V96F	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	111					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.V111F(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATAGCCAGCTGTTGCACTGCC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											129.0	109.0	116.0					10																	70502139		2203	4300	6503	SO:0001583	missense	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.331G>T	10.37:g.70502139G>T	ENSP00000265872:p.Val111Phe	Somatic		WXS	Illumina GAIIx	Phase_I	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437692	0.83885	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225	T;T;T;T;T	0.30714	1.52;1.53;1.53;1.54;1.7	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.68765	0.899;0.96	T	0.41324	-0.9515	10	0.72032	D	0.01	-17.4968	20.1086	0.97902	0.0:0.0:1.0:0.0	.	96;111	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	F	111;111;96;111;96;96;85	ENSP00000265872:V111F;ENSP00000441820:V96F;ENSP00000445254:V96F;ENSP00000439252:V96F;ENSP00000438610:V85F	ENSP00000265872:V111F	V	+	1	0	CCAR1	70172145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.733000	0.84916	2.756000	0.94617	0.563000	0.77884	GTT		0.378	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2		NM_018237	
CAMK2G	818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75574945	75574945	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:75574945A>G	ENST00000351293.3	-	18	1373	c.1316T>C	c.(1315-1317)aTt>aCt	p.I439T	CAMK2G_ENST00000322635.3_Missense_Mutation_p.I471T|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I500T|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I473T|RP11-574K11.5_ENST00000434147.1_RNA|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I477T|CAMK2G_ENST00000423381.1_Missense_Mutation_p.I532T|CAMK2G_ENST00000372765.1_Missense_Mutation_p.I460T	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	502					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.I439T(1)|p.I500T(1)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GTCCTCCCCAATCACGTGGAC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											160.0	130.0	141.0					10																	75574945		2203	4300	6503	SO:0001583	missense	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.1316T>C	10.37:g.75574945A>G	ENSP00000277853:p.Ile439Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700799	0.88924	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.51	5.51	0.81932	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.61703	1.905	0.80722	D	1	P;P;P;P;D;P;P	0.56035	0.883;0.835;0.566;0.925;0.974;0.809;0.935	P;B;B;P;P;B;P	0.60949	0.749;0.373;0.419;0.864;0.881;0.287;0.811	T	0.63395	-0.6647	10	0.87932	D	0	.	15.6466	0.77061	1.0:0.0:0.0:0.0	.	473;532;439;462;502;471;500	Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;KCC2G_HUMAN;.;.	T	439;471;532;502;500;477;397;473;460	ENSP00000277853:I439T;ENSP00000315599:I471T;ENSP00000410298:I532T;ENSP00000319060:I500T;ENSP00000378243:I477T;ENSP00000393784:I397T;ENSP00000307082:I473T;ENSP00000361851:I460T	ENSP00000307082:I473T	I	-	2	0	CAMK2G	75244951	1.000000	0.71417	0.504000	0.27639	0.999000	0.98932	8.962000	0.93254	2.088000	0.63022	0.533000	0.62120	ATT		0.612	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169	
CCDC9	26093	broad.mit.edu	37	19	47763878	47763878	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:47763878delG	ENST00000221922.6	+	5	466	c.244delG	c.(244-246)gggfs	p.G82fs		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	82							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGTCTCCTGGGACCCCTCG	0.701																																																	0													28.0	31.0	30.0					19																	47763878		1964	4053	6017	SO:0001589	frameshift_variant	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.244delG	19.37:g.47763878delG	ENSP00000221922:p.Gly82fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000221922.6	37	CCDS12698.1																																																																																				0.701	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1		NM_015603	
CDHR5	53841	hgsc.bcm.edu	37	11	618106	618106	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:618106C>T	ENST00000358353.3	-	15	2288	c.1966G>A	c.(1966-1968)Ggc>Agc	p.G656S	CDHR5_ENST00000349570.7_Missense_Mutation_p.G462S|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000348655.6_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.G656S			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	656					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCCGAGGGGCCGCCACCTGGC	0.652																																																	0													64.0	57.0	59.0					11																	618106		2201	4299	6500	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1966G>A	11.37:g.618106C>T	ENSP00000351118:p.Gly656Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	0.887	-0.726733	0.03158	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.57907	0.37;0.37;0.9	1.87	-0.231	0.13086	.	4.336540	0.00817	N	0.001557	T	0.40247	0.1109	L	0.40543	1.245	0.09310	N	1	P;P;P	0.44241	0.706;0.829;0.706	B;B;B	0.36959	0.132;0.237;0.132	T	0.28996	-1.0026	10	0.13853	T	0.58	1.1837	7.5176	0.27610	0.0:0.4676:0.5324:0.0	.	650;462;656	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	S	656;656;462	ENSP00000380676:G656S;ENSP00000351118:G656S;ENSP00000345726:G462S	ENSP00000345726:G462S	G	-	1	0	CDHR5	608106	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.782000	0.01772	-0.049000	0.13379	-0.264000	0.10439	GGC		0.652	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924	
CLSPN	63967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36214086	36214086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:36214086delT	ENST00000318121.3	-	13	2449	c.2392delA	c.(2392-2394)agtfs	p.S798fs	CLSPN_ENST00000251195.5_Frame_Shift_Del_p.S798fs|CLSPN_ENST00000520551.1_Frame_Shift_Del_p.S745fs|CLSPN_ENST00000373220.3_Frame_Shift_Del_p.S734fs	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	798					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGAAAAAACTGGTCCCACGG	0.483																																																	0													128.0	128.0	128.0					1																	36214086		2203	4300	6503	SO:0001589	frameshift_variant	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2392delA	1.37:g.36214086delT	ENSP00000312995:p.Ser798fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Del	DEL	ENST00000318121.3	37	CCDS396.1																																																																																				0.483	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1		NM_022111	
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130394072	130394072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:130394072delC	ENST00000358511.6	+	36	6654	c.6623delC	c.(6622-6624)accfs	p.T2208fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.T2208fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2208	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTAAAGCTACCCTCAAAGAA	0.313																																																	0													55.0	48.0	50.0					3																	130394072		1827	4079	5906	SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6623delC	3.37:g.130394072delC	ENSP00000351310:p.Thr2208fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.313	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CORO2B	10391	broad.mit.edu;hgsc.bcm.edu	37	15	69003112	69003112	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:69003112C>T	ENST00000566799.1	+	4	404	c.375C>T	c.(373-375)aaC>aaT	p.N125N	CORO2B_ENST00000540068.1_Silent_p.N120N|CORO2B_ENST00000261861.5_Silent_p.N120N|CORO2B_ENST00000543950.1_Silent_p.N120N			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	125					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.N125N(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGAAGCGGAACATGACGGAGG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											36.0	32.0	33.0					15																	69003112		2199	4297	6496	SO:0001819	synonymous_variant	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.375C>T	15.37:g.69003112C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																				0.657	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006091	
CPLX2	10814	broad.mit.edu	37	5	175306022	175306022	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:175306022G>C	ENST00000359546.4	+	4	786	c.143G>C	c.(142-144)cGt>cCt	p.R48P	CPLX2_ENST00000393745.3_Missense_Mutation_p.R48P|CPLX2_ENST00000512824.1_Missense_Mutation_p.R48P|CPLX2_ENST00000515094.1_Missense_Mutation_p.R48P	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	48	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)		p.R48P(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			gaggaggagCGTAAGGCCAAG	0.692																																																	2	Substitution - Missense(2)	kidney(2)											18.0	17.0	18.0					5																	175306022		2198	4299	6497	SO:0001583	missense	10814			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.143G>C	5.37:g.175306022G>C	ENSP00000352544:p.Arg48Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Missense_Mutation	SNP	ENST00000359546.4	37	CCDS4396.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.461785	0.84425	.	.	ENSG00000145920	ENST00000359546;ENST00000509837;ENST00000393745;ENST00000512824;ENST00000393746;ENST00000514150;ENST00000502265;ENST00000515094	.	.	.	4.32	3.43	0.39272	.	0.000000	0.85682	U	0.000000	T	0.72391	0.3454	M	0.90595	3.13	0.80722	D	1	P	0.35208	0.49	B	0.42959	0.403	T	0.76231	-0.3035	9	0.87932	D	0	-13.2129	11.1153	0.48256	0.0:0.0:0.8137:0.1863	.	48	Q6PUV4	CPLX2_HUMAN	P	48	.	ENSP00000352544:R48P	R	+	2	0	CPLX2	175238628	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.950000	0.93019	0.995000	0.38917	0.457000	0.33378	CGT		0.692	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253157.2			
CRIPAK	285464	hgsc.bcm.edu	37	4	1389101	1389101	+	Missense_Mutation	SNP	A	A	G	rs71614971	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:1389101A>G	ENST00000324803.4	+	1	3762	c.802A>G	c.(802-804)Agt>Ggt	p.S268G		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	268					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGCCCGCCT	0.692													A|||	1001	0.19988	0.1293	0.2795	5008	,	,		12141	0.0526		0.3529	False		,,,				2504	0.2331																0								A	GLY/SER	618,3788		43,532,1628	140.0	129.0	132.0		802	-1.6	0.0	4	dbSNP_130	132	3204,5392		611,1982,1705	no	missense	CRIPAK	NM_175918.3	56	654,2514,3333	GG,GA,AA		37.2732,14.0263,29.3955	benign	268/447	1389101	3822,9180	2203	4298	6501	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.802A>G	4.37:g.1389101A>G	ENSP00000323978:p.Ser268Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	448	0.20512820512820512	61	0.12398373983739837	96	0.26519337016574585	38	0.06643356643356643	253	0.3337730870712401	-	1.677	-0.507416	0.04231	0.140263	0.372732	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.21734	1.99	0.815	-1.63	0.08345	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.12630	0.006	B	0.04013	0.001	T	0.47129	-0.9141	8	0.20519	T	0.43	.	2.8991	0.05700	0.2283:0.0:0.4427:0.329	.	268	Q8N1N5	CRPAK_HUMAN	G	268;210	ENSP00000323978:S268G	ENSP00000323978:S268G	S	+	1	0	CRIPAK	1379101	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.535000	0.02210	-1.564000	0.01678	-0.530000	0.04314	AGT		0.692	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
DLX6	1750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	96639202	96639202	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:96639202C>T	ENST00000518156.2	+	3	1155	c.725C>T	c.(724-726)gCg>gTg	p.A242V	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Missense_Mutation_p.A214V|DLX6_ENST00000555308.1_Missense_Mutation_p.A114V			P56179	DLX6_HUMAN	distal-less homeobox 6	124					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A214V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CAGGGCTCGGCGGCCCTGTCG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											38.0	42.0	41.0					7																	96639202		2129	4261	6390	SO:0001583	missense	1750				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.725C>T	7.37:g.96639202C>T	ENSP00000428480:p.Ala242Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739326	0.30774	.	.	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.92149	-2.98;-2.9;-2.95	5.76	4.83	0.62350	.	0.199331	0.56097	D	0.000040	D	0.86896	0.6043	L	0.28115	0.83	0.49389	D	0.999789	B	0.20780	0.048	B	0.23275	0.045	T	0.82188	-0.0581	10	0.30078	T	0.28	-10.4313	16.2866	0.82724	0.0:0.8677:0.1323:0.0	.	214	P56179-2	.	V	242;214;114	ENSP00000428480:A242V;ENSP00000007660:A214V;ENSP00000451635:A114V	ENSP00000007660:A214V	A	+	2	0	DLX6	96477138	1.000000	0.71417	0.714000	0.30535	0.040000	0.13550	4.480000	0.60243	2.732000	0.93576	0.655000	0.94253	GCG		0.577	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4		NM_005222	
DNAJC3	5611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	96361504	96361504	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:96361504G>A	ENST00000602402.1	+	2	223	c.106G>A	c.(106-108)Gat>Aat	p.D36N	DNAJC3_ENST00000376795.6_Missense_Mutation_p.D36N	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	36					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.D36N(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGTAAATGCAGATGTTGAGAA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											125.0	114.0	118.0					13																	96361504		2203	4300	6503	SO:0001583	missense	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.106G>A	13.37:g.96361504G>A	ENSP00000473631:p.Asp36Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398077	0.62177	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.295750	0.42420	D	0.000719	T	0.59972	0.2233	L	0.42245	1.32	0.50039	D	0.99984	B;B	0.22604	0.072;0.072	B;B	0.26517	0.07;0.07	T	0.55263	-0.8168	9	0.52906	T	0.07	-7.904	19.0962	0.93253	0.0:0.0:1.0:0.0	.	36;36	A8KA82;Q13217	.;DNJC3_HUMAN	N	36	.	ENSP00000365991:D36N	D	+	1	0	DNAJC3	95159505	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.361000	0.66092	2.818000	0.97014	0.655000	0.94253	GAT		0.323	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			
AGO2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141545588	141545588	+	Silent	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr8:141545588C>A	ENST00000220592.5	-	17	2362	c.2250G>T	c.(2248-2250)ctG>ctT	p.L750L	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	750	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.L750L(1)									CGTGACTACACAGGTAGAAGT	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											246.0	183.0	205.0					8																	141545588		2203	4300	6503	SO:0001819	synonymous_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2250G>T	8.37:g.141545588C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	CCDS6380.1																																																																																				0.557	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			
EPHX1	2052	broad.mit.edu;ucsc.edu	37	1	226030115	226030115	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:226030115A>G	ENST00000366837.4	+	7	1176	c.980A>G	c.(979-981)gAg>gGg	p.E327G	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.E327G	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	327					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.E327G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TATATTCTAGAGAAGTTTTCC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											124.0	135.0	131.0					1																	226030115		2203	4300	6503	SO:0001583	missense	2052			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.980A>G	1.37:g.226030115A>G	ENSP00000355802:p.Glu327Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913371	0.92178	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.22945	1.93;1.93	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70673	-0.4807	10	0.87932	D	0	-15.5744	15.3501	0.74376	1.0:0.0:0.0:0.0	.	327	P07099	HYEP_HUMAN	G	327	ENSP00000272167:E327G;ENSP00000355802:E327G	ENSP00000272167:E327G	E	+	2	0	EPHX1	224096738	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.187000	0.94912	2.082000	0.62665	0.459000	0.35465	GAG		0.592	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1		NM_000120	
EPPK1	83481	hgsc.bcm.edu	37	8	144940666	144940666	+	Silent	SNP	G	G	A	rs368004220		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr8:144940666G>A	ENST00000525985.1	-	2	6827	c.6756C>T	c.(6754-6756)ggC>ggT	p.G2252G				P58107	EPIPL_HUMAN	epiplakin 1	2252						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCAGCACGCCCTTCCACA	0.711																																																	0								G		1,4367		0,1,2183	55.0	52.0	53.0		6756	1.8	0.9	8		53	14,8508		0,14,4247	no	coding-synonymous	EPPK1	NM_031308.1		0,15,6430	AA,AG,GG		0.1643,0.0229,0.1164		2252/2420	144940666	15,12875	2184	4261	6445	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6756C>T	8.37:g.144940666G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.711	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308	
FCGR3A	2214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161595993	161595993	+	Intron	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:161595993C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Silent_p.R173R|FCGR3B_ENST00000531221.1_Silent_p.R209R|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000294800.3_Silent_p.R173R|FCGR2B_ENST00000403078.3_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R173R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAACAAGCCCCCTGCAGAAGT	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	114.0	111.0					1																	161595993		2200	4300	6500	SO:0001627	intron_variant	2215			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+4164G>A	1.37:g.161595993C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37		.	.	.	.	.	.	.	.	.	.	-	4.634	0.117934	0.08881	.	.	ENSG00000162747	ENST00000421702	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.07548	0.0190	.	.	.	0.25913	N	0.983211	.	.	.	.	.	.	T	0.34279	-0.9835	4	.	.	.	.	2.0161	0.03498	0.2576:0.3787:0.0:0.3637	.	.	.	.	R	194	.	.	G	-	1	0	FCGR3B	159862617	0.002000	0.14202	0.728000	0.30774	0.087000	0.18053	-0.841000	0.04359	-0.036000	0.13669	-0.515000	0.04445	GGG		0.463	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000569	
FN3K	64122	broad.mit.edu;ucsc.edu	37	17	80706748	80706748	+	Silent	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr17:80706748T>C	ENST00000300784.7	+	5	548	c.486T>C	c.(484-486)gaT>gaC	p.D162D		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	162					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)	p.D162D(1)		central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGTGGCAGGATGACTGGCCGA	0.577																																					Melanoma(10;391 597 14592 32548 32749)												1	Substitution - coding silent(1)	kidney(1)											71.0	69.0	70.0					17																	80706748		2203	4300	6503	SO:0001819	synonymous_variant	64122			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.486T>C	17.37:g.80706748T>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000300784.7	37	CCDS11818.1																																																																																				0.577	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1		NM_022158	
FOSB	2354	broad.mit.edu	37	19	45974531	45974531	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:45974531G>A	ENST00000353609.3	+	3	1119	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	FOSB_ENST00000592436.1_Missense_Mutation_p.R176Q|FOSB_ENST00000586615.1_Missense_Mutation_p.R127Q|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_Missense_Mutation_p.R127Q|FOSB_ENST00000417353.2_Intron|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.R137Q|FOSB_ENST00000590335.1_3'UTR|FOSB_ENST00000585836.1_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	176	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R176Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGGAACCGGCGGAGGGAGCTG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											46.0	33.0	37.0					19																	45974531		2172	4254	6426	SO:0001583	missense	2354				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.527G>A	19.37:g.45974531G>A	ENSP00000245919:p.Arg176Gln	Somatic		WXS	Illumina GAIIx	Phase_I	A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524158	0.96431	.	.	ENSG00000125740	ENST00000353609;ENST00000455928	T	0.56776	0.44	4.51	4.51	0.55191	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.75703	-0.3225	10	0.87932	D	0	-2.9587	14.7514	0.69528	0.0:0.0:1.0:0.0	.	137;176	A8VJF0;P53539	.;FOSB_HUMAN	Q	176	ENSP00000245919:R176Q	ENSP00000245919:R176Q	R	+	2	0	FOSB	50666371	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.214000	0.95140	2.349000	0.79799	0.561000	0.74099	CGG		0.622	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1		NM_006732	
LYPLA2	11313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24124241	24124241	+	IGR	SNP	C	C	G	rs374106365		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:24124241C>G	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Missense_Mutation_p.G158R	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.G158R(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TTGGACTTGCCGTAAGGGTTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											78.0	75.0	76.0					1																	24124241		2203	4300	6503	SO:0001628	intergenic_variant	2582			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124241C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z4Z2	Missense_Mutation	SNP	ENST00000374514.3	37	CCDS241.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778885	0.90195	.	.	ENSG00000117308	ENST00000374498;ENST00000374497;ENST00000429356;ENST00000418277;ENST00000425913;ENST00000445705	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	4.72	4.72	0.59763	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99851	4.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99771	1.1024	10	0.87932	D	0	-16.8659	17.4675	0.87637	0.0:1.0:0.0:0.0	.	84;94;158;158	B3KQ39;E9PH43;Q38G75;Q14376	.;.;.;GALE_HUMAN	R	94;158;94;94;158;158	ENSP00000363621:G158R;ENSP00000398585:G94R;ENSP00000414719:G94R;ENSP00000393359:G158R;ENSP00000398257:G158R	ENSP00000363621:G158R	G	-	1	0	GALE	23996828	1.000000	0.71417	0.959000	0.39883	0.945000	0.59286	7.265000	0.78442	2.457000	0.83068	0.655000	0.94253	GGC		0.592	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			
GPR26	2849	broad.mit.edu;ucsc.edu	37	10	125447555	125447555	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:125447555G>A	ENST00000284674.1	+	3	946	c.893G>A	c.(892-894)cGa>cAa	p.R298Q		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	298					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R298Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCCTTACTGCGACACCAGTAC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											84.0	74.0	77.0					10																	125447555		2203	4300	6503	SO:0001583	missense	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.893G>A	10.37:g.125447555G>A	ENSP00000284674:p.Arg298Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241727	0.95272	.	.	ENSG00000154478	ENST00000284674	T	0.37235	1.21	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000005	T	0.45498	0.1345	L	0.58810	1.83	0.80722	D	1	D	0.60160	0.987	P	0.47299	0.543	T	0.42531	-0.9446	10	0.51188	T	0.08	-4.1452	19.5704	0.95409	0.0:0.0:1.0:0.0	.	298	Q8NDV2	GPR26_HUMAN	Q	298	ENSP00000284674:R298Q	ENSP00000284674:R298Q	R	+	2	0	GPR26	125437545	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.350000	0.97070	2.603000	0.88011	0.585000	0.79938	CGA		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			
GPR98	84059	broad.mit.edu;hgsc.bcm.edu	37	5	90149227	90149227	+	Silent	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:90149227A>G	ENST00000405460.2	+	80	17427	c.17331A>G	c.(17329-17331)ctA>ctG	p.L5777L	GPR98_ENST00000425867.2_Silent_p.L1438L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5777					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L5777L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGAGGCTACTGGATGTCC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	69.0	70.0					5																	90149227		1870	4100	5970	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17331A>G	5.37:g.90149227A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1																																																																																				0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119	
HADHB	3032	broad.mit.edu;ucsc.edu	37	2	26502013	26502013	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:26502013T>C	ENST00000317799.5	+	9	745	c.641T>C	c.(640-642)gTt>gCt	p.V214A	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.V192A|HADHB_ENST00000537713.1_Missense_Mutation_p.V199A	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	214					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)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|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)|poly(A) RNA binding (GO:0044822)	p.V214A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCCTGCGGTTTCTGAGTTC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											89.0	88.0	89.0					2																	26502013		2203	4300	6503	SO:0001583	missense	3032				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.641T>C	2.37:g.26502013T>C	ENSP00000325136:p.Val214Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	ENST00000317799.5	37	CCDS1722.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957904	0.73902	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822	D;D;D	0.87412	-2.25;-2.25;-2.25	5.69	5.69	0.88448	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.68728	2.09	0.80722	D	1	D;D;D	0.65815	0.994;0.961;0.995	D;P;D	0.68353	0.928;0.852;0.957	D	0.92857	0.6302	10	0.72032	D	0.01	-25.0495	15.0712	0.72040	0.0:0.0:0.0:1.0	.	199;192;214	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	A	214;199;192	ENSP00000325136:V214A;ENSP00000444295:V199A;ENSP00000442665:V192A	ENSP00000325136:V214A	V	+	2	0	HADHB	26355517	1.000000	0.71417	0.724000	0.30704	0.351000	0.29236	7.685000	0.84117	2.291000	0.77112	0.533000	0.62120	GTT		0.507	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2		NM_000183	
HIRIP3	8479	broad.mit.edu;hgsc.bcm.edu	37	16	30006455	30006455	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:30006455C>T	ENST00000279392.3	-	3	1100	c.270G>A	c.(268-270)gaG>gaA	p.E90E	INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Silent_p.E90E|INO80E_ENST00000567705.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	90					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.E90E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						ACCTTTTTCTCTCCGGGTCGC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	153.0	155.0					16																	30006455		2197	4300	6497	SO:0001819	synonymous_variant	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.270G>A	16.37:g.30006455C>T		Somatic		WXS	Illumina HiSeq	Phase_I	H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	CCDS10664.1																																																																																				0.557	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2		NM_003609	
IPO13	9670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44422057	44422057	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:44422057C>T	ENST00000372343.3	+	3	1549	c.887C>T	c.(886-888)gCa>gTa	p.A296V	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	296					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A296V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCGGCAGGCAGTGCAGAAT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											71.0	66.0	68.0					1																	44422057		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.887C>T	1.37:g.44422057C>T	ENSP00000361418:p.Ala296Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528643	0.85706	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.51	4.59	0.56863	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.76377	-0.2981	9	0.48119	T	0.1	-4.5085	14.7122	0.69241	0.0:0.9291:0.0:0.0709	.	296	O94829	IPO13_HUMAN	V	296	.	ENSP00000361418:A296V	A	+	2	0	IPO13	44194644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.039000	0.70972	2.606000	0.88127	0.511000	0.50034	GCA		0.587	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652	
IVL	3713	hgsc.bcm.edu	37	1	152882772	152882801	+	In_Frame_Del	DEL	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	-	rs267598044|rs61731348|rs12035307|rs541736259|rs11205135|rs11205136	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	GAGCAGCAGGAGGGACAGCTGAAGCACCCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:152882772_152882801delGAGCAGCAGGAGGGACAGCTGAAGCACCCG	ENST00000368764.3	+	2	563_592	c.499_528delGAGCAGCAGGAGGGACAGCTGAAGCACCCG	c.(499-528)gagcagcaggagggacagctgaagcacccgdel	p.EQQEGQLKHP167del	IVL_ENST00000392667.2_In_Frame_Del_p.EQQEGQLKHP21del			P07476	INVO_HUMAN	involucrin	167	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.G171V(2)|p.P176P(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gaagcacctagagcagcaggagggacagctgaagcacccggagcagcagg	0.617																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	lung(2)|ovary(1)								22,4244		0,22,2111						-4.0	0.0			32	161,8093		2,157,3968	no	coding	IVL	NM_005547.2		2,179,6079	A1A1,A1R,RR		1.9506,0.5157,1.4617				183,12337				SO:0001651	inframe_deletion	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.499_528delGAGCAGCAGGAGGGACAGCTGAAGCACCCG	1.37:g.152882772_152882801delGAGCAGCAGGAGGGACAGCTGAAGCACCCG	ENSP00000357753:p.Glu167_Pro176del	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7P4	In_Frame_Del	DEL	ENST00000368764.3	37	CCDS1030.1																																																																																				0.617	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1		NM_005547	
SZT2	23334	broad.mit.edu	37	1	43880873	43880873	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:43880873delC	ENST00000562955.1	+	5	619	c.619delC	c.(619-621)cccfs	p.P207fs		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	207					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCAGTACGATCCCCAGAGCCA	0.547											OREG0013431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													53.0	45.0	48.0					1																	43880873		876	1991	2867	SO:0001589	frameshift_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.619delC	1.37:g.43880873delC	ENSP00000457168:p.Pro207fs	Somatic	919	WXS	Illumina GAIIx	Phase_I	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	ENST00000562955.1	37	CCDS30694.2																																																																																				0.547	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		NM_015284	
KIAA1024	23251	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79748707	79748707	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:79748707T>A	ENST00000305428.3	+	2	293	c.218T>A	c.(217-219)gTg>gAg	p.V73E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	73						integral component of membrane (GO:0016021)		p.V73E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AAATGCACTGTGAATAACCAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											90.0	86.0	87.0					15																	79748707		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.218T>A	15.37:g.79748707T>A	ENSP00000307461:p.Val73Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.631728	0.29068	.	.	ENSG00000169330	ENST00000305428	T	0.35605	1.3	5.88	-2.51	0.06365	.	0.441905	0.26026	N	0.026786	T	0.26846	0.0657	L	0.60455	1.87	0.09310	N	1	B	0.23735	0.09	B	0.24974	0.057	T	0.17653	-1.0362	9	.	.	.	.	6.1727	0.20427	0.0:0.2511:0.354:0.3949	.	73	Q9UPX6	K1024_HUMAN	E	73	ENSP00000307461:V73E	.	V	+	2	0	KIAA1024	77535762	0.497000	0.26067	0.000000	0.03702	0.985000	0.73830	0.646000	0.24797	-0.738000	0.04817	-0.332000	0.08345	GTG		0.468	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		NM_015206	
KRTAP10-10	353333	hgsc.bcm.edu	37	21	46057625	46057625	+	Silent	SNP	T	T	C	rs66931310|rs56249559|rs55677560	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr21:46057625T>C	ENST00000380095.1	+	1	353	c.291T>C	c.(289-291)ccT>ccC	p.P97P	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						gctgtgtgcctgtctgctgtg	0.622																																																	0													82.0	79.0	80.0					21																	46057625		2132	4094	6226	SO:0001819	synonymous_variant	353333			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.291T>C	21.37:g.46057625T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000380095.1	37	CCDS33585.1																																																																																				0.622	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1		NM_181688	
LARP1	23367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	154181675	154181676	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:154181675_154181676delTT	ENST00000336314.4	+	11	1618_1619	c.1594_1595delTT	c.(1594-1596)tttfs	p.F532fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	609					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATTTTCTGTTTGACGAGGAG	0.515																																																	0																																										SO:0001589	frameshift_variant	23367			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1594_1595delTT	5.37:g.154181675_154181676delTT	ENSP00000336721:p.Phe532fs	Somatic		WXS	Illumina HiSeq	Phase_I	O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	CCDS4328.1																																																																																				0.515	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		NM_033551	
MANSC4	100287284	broad.mit.edu;ucsc.edu	37	12	27916081	27916081	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr12:27916081A>T	ENST00000381273.3	-	3	612	c.613T>A	c.(613-615)Tcc>Acc	p.S205T		NM_001146221.1	NP_001139693.1	A6NHS7	MANS4_HUMAN	MANSC domain containing 4	205						integral component of membrane (GO:0016021)		p.S205T(2)		kidney(1)	1						TCATTCAGGGAAGTAAATCTT	0.378																																																	2	Substitution - Missense(2)	kidney(2)											213.0	171.0	184.0					12																	27916081		692	1591	2283	SO:0001583	missense	0				CCDS53770.1	12p11.22	2011-05-05			ENSG00000205693	ENSG00000205693			40023	protein-coding gene	gene with protein product							Standard	NM_001146221		Approved		uc010sjs.1	A6NHS7	OTTHUMG00000169216	ENST00000381273.3:c.613T>A	12.37:g.27916081A>T	ENSP00000370673:p.Ser205Thr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000381273.3	37	CCDS53770.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723002	0.30503	.	.	ENSG00000205693	ENST00000381273	T	0.47177	0.85	5.7	0.257	0.15574	.	0.367176	0.23891	N	0.043546	T	0.30135	0.0755	L	0.50333	1.59	0.09310	N	1	P	0.39665	0.682	B	0.32149	0.141	T	0.14254	-1.0479	10	0.22109	T	0.4	-10.9566	5.9478	0.19229	0.3234:0.5619:0.1148:0.0	.	205	A6NHS7	MANS4_HUMAN	T	205	ENSP00000370673:S205T	ENSP00000370673:S205T	S	-	1	0	MANSC4	27807348	0.012000	0.17670	0.007000	0.13788	0.572000	0.35998	0.529000	0.23019	0.404000	0.25506	-0.323000	0.08544	TCC		0.378	MANSC4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000402902.1			
LSP1	4046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1908764	1908764	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:1908764G>T	ENST00000311604.3	+	10	1166	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	LSP1_ENST00000405957.2_Missense_Mutation_p.V269L|LSP1_ENST00000406638.2_Missense_Mutation_p.V269L|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.V459L	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	331					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.V331L(1)|p.V269L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GTATGAGAAGGTGCTTGTGGA	0.587																																																	2	Substitution - Missense(2)	kidney(2)											97.0	96.0	96.0					11																	1908764		2202	4299	6501	SO:0001583	missense	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.991G>T	11.37:g.1908764G>T	ENSP00000308383:p.Val331Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.286479	0.80803	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000406638	T;T;T;T	0.28895	1.68;1.59;1.7;1.7	4.48	4.48	0.54585	.	0.224693	0.21385	U	0.075418	T	0.43077	0.1231	L	0.32530	0.975	0.37805	D	0.927857	D;D	0.61697	0.99;0.979	P;P	0.62813	0.907;0.783	T	0.50734	-0.8793	10	0.72032	D	0.01	-25.2367	16.0896	0.81084	0.0:0.0:1.0:0.0	.	459;331	E9PFP3;P33241	.;LSP1_HUMAN	L	331;459;269;269	ENSP00000308383:V331L;ENSP00000371194:V459L;ENSP00000383932:V269L;ENSP00000384022:V269L	ENSP00000308383:V331L	V	+	1	0	LSP1	1865340	1.000000	0.71417	0.991000	0.47740	0.820000	0.46376	3.222000	0.51223	2.218000	0.71995	0.305000	0.20034	GTG		0.587	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3		NM_002339	
MAP7D3	79649	hgsc.bcm.edu	37	X	135328306	135328306	+	Splice_Site	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:135328306T>A	ENST00000316077.9	-	3	391	c.171A>T	c.(169-171)gtA>gtT	p.V57V	MAP7D3_ENST00000370661.1_Splice_Site_p.V57V|MAP7D3_ENST00000370663.5_Splice_Site_p.V39V	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	57					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATCCATCGATTACTAAAAAAA	0.308																																																	0													110.0	92.0	98.0					X																	135328306		1801	4063	5864	SO:0001630	splice_region_variant	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.170-1A>T	X.37:g.135328306T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	CCDS44004.1																																																																																				0.308	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			Silent
MELK	9833	broad.mit.edu	37	9	36665415	36665415	+	Silent	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr9:36665415A>G	ENST00000298048.2	+	14	1429	c.1245A>G	c.(1243-1245)acA>acG	p.T415T	MELK_ENST00000545008.1_Silent_p.T344T|MELK_ENST00000538311.1_Silent_p.T221T|MELK_ENST00000536860.1_Silent_p.T367T|MELK_ENST00000536329.1_Silent_p.T344T|MELK_ENST00000543751.1_Silent_p.T383T|MELK_ENST00000541717.1_Silent_p.T374T|MELK_ENST00000536987.1_Silent_p.T284T	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	415	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.T415T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TATGCAGAACACCTGCAAATA	0.348																																					Ovarian(82;980 1317 7225 14391 18624)												1	Substitution - coding silent(1)	kidney(1)											78.0	81.0	80.0					9																	36665415		2203	4299	6502	SO:0001819	synonymous_variant	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1245A>G	9.37:g.36665415A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	CCDS6606.1																																																																																				0.348	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3		NM_014791	
MID1	4281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	10427708	10427708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:10427708delC	ENST00000317552.4	-	8	1825	c.1425delG	c.(1423-1425)gagfs	p.E475fs	MID1_ENST00000380787.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380782.2_Frame_Shift_Del_p.E475fs|MID1_ENST00000380785.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000453318.2_Frame_Shift_Del_p.E475fs|MID1_ENST00000380780.1_Frame_Shift_Del_p.E475fs|MID1_ENST00000380779.1_Frame_Shift_Del_p.E475fs	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	475	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACTTCCCAGGCTCACTGCTGC	0.522																																																	0													164.0	130.0	142.0					X																	10427708		2203	4300	6503	SO:0001589	frameshift_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1425delG	X.37:g.10427708delC	ENSP00000312678:p.Glu475fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCG2|O75361|Q9BZX5	Frame_Shift_Del	DEL	ENST00000317552.4	37	CCDS14138.1																																																																																				0.522	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			
MRPL54	116541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3765311	3765311	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:3765311A>T	ENST00000330133.4	+	2	303	c.266A>T	c.(265-267)gAt>gTt	p.D89V		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	89						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.D89V(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAACCGGATGCTGAGTAC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											146.0	118.0	128.0					19																	3765311		2203	4300	6503	SO:0001583	missense	116541				CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.266A>T	19.37:g.3765311A>T	ENSP00000331849:p.Asp89Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000330133.4	37	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	A	7.190	0.591313	0.13812	.	.	ENSG00000183617	ENST00000330133	.	.	.	4.69	4.69	0.59074	.	0.331422	0.29126	N	0.013080	T	0.67401	0.2889	M	0.86268	2.805	0.25903	N	0.983326	D	0.59357	0.985	P	0.61070	0.883	T	0.64575	-0.6375	9	0.87932	D	0	-14.8692	12.0926	0.53736	1.0:0.0:0.0:0.0	.	89	Q6P161	RM54_HUMAN	V	89	.	ENSP00000331849:D89V	D	+	2	0	MRPL54	3716311	0.875000	0.30112	0.057000	0.19452	0.028000	0.11728	3.349000	0.52217	1.732000	0.51606	0.379000	0.24179	GAT		0.577	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1		NM_172251	
NANOS3	342977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13985689	13985689	+	5'Flank	SNP	G	G	A	rs373207013	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:13985689G>A	ENST00000397555.2	+	0	0				MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_5'Flank	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)						germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCCTGGGCACGTCCCCTCCCC	0.612													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16154	0.0		0.0	False		,,,				2504	0.0																0								G		1,3135		0,1,1567	54.0	56.0	55.0			-2.0	0.0	19		55	0,7164		0,0,3582	no	intergenic				0,1,5149	AA,AG,GG		0.0,0.0319,0.0097			13985689	1,10299	1568	3582	5150	SO:0001631	upstream_gene_variant	574457			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323			19.37:g.13985689G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	Q495E5	RNA	SNP	ENST00000397555.2	37																																																																																					0.612	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_292819	
MUC6	4588	hgsc.bcm.edu	37	11	1018093	1018094	+	Frame_Shift_Ins	INS	-	-	T	rs376177791|rs372288551		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:1018093_1018094insT	ENST00000421673.2	-	31	4757_4758	c.4707_4708insA	c.(4705-4710)ccaccafs	p.P1570fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1570	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGTGGTGGTGGCCTGCTGC	0.574																																																	0																																										SO:0001589	frameshift_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4708dupA	11.37:g.1018094_1018094dupT	ENSP00000406861:p.Pro1570fs	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	CCDS44513.1																																																																																				0.574	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
NNT	23530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	43702815	43702815	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:43702815C>A	ENST00000264663.5	+	21	3309	c.3088C>A	c.(3088-3090)Ctt>Att	p.L1030I	NNT_ENST00000512996.2_Missense_Mutation_p.L899I|NNT_ENST00000344920.4_Missense_Mutation_p.L1030I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1030					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.L1030I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CATGCCAGTCCTTGAGGTCTG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											78.0	73.0	75.0					5																	43702815		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3088C>A	5.37:g.43702815C>A	ENSP00000264663:p.Leu1030Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809776	0.70797	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.93366	-3.21;-3.21;-3.21	5.95	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	L	0.54863	1.705	0.53005	D	0.999964	D	0.65815	0.995	D	0.74348	0.983	D	0.93650	0.6972	10	0.33940	T	0.23	-14.0263	15.7667	0.78131	0.0:0.9234:0.0:0.0766	.	1030	Q13423	NNTM_HUMAN	I	545;1030;1030;899	ENSP00000264663:L1030I;ENSP00000343873:L1030I;ENSP00000426343:L899I	ENSP00000264663:L1030I	L	+	1	0	NNT	43738572	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	3.758000	0.55220	2.824000	0.97209	0.655000	0.94253	CTT		0.363	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977	
OR10H3	26532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15852604	15852604	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:15852604C>T	ENST00000305892.1	+	1	402	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N134N(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGCATTACAACATGCTAATGA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											225.0	180.0	195.0					19																	15852604		2203	4300	6503	SO:0001819	synonymous_variant	26532				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.402C>T	19.37:g.15852604C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	CCDS12334.1																																																																																				0.517	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			
OCEL1	79629	broad.mit.edu;hgsc.bcm.edu	37	19	17338790	17338790	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:17338790C>G	ENST00000215061.4	+	4	638	c.594C>G	c.(592-594)agC>agG	p.S198R	OCEL1_ENST00000597836.1_Missense_Mutation_p.S142R|OCEL1_ENST00000601529.1_Intron	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	198								p.S198R(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CCCTGCTGAGCTCCCTGCCCC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											60.0	57.0	58.0					19																	17338790		2203	4300	6503	SO:0001583	missense	79629			BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.594C>G	19.37:g.17338790C>G	ENSP00000215061:p.Ser198Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000215061.4	37	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	C	1.263	-0.615162	0.03663	.	.	ENSG00000099330	ENST00000215061	T	0.21932	1.98	4.52	0.862	0.19056	Occludin/RNA polymerase II elongation factor, ELL domain (1);	1.645480	0.03028	N	0.151728	T	0.13329	0.0323	N	0.20401	0.57	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.22626	-1.0211	10	0.31617	T	0.26	-9.5826	2.8251	0.05483	0.1784:0.5279:0.188:0.1057	.	198	Q9H607	OCEL1_HUMAN	R	198	ENSP00000215061:S198R	ENSP00000215061:S198R	S	+	3	2	OCEL1	17199790	0.000000	0.05858	0.050000	0.19076	0.012000	0.07955	0.105000	0.15333	0.459000	0.27016	0.561000	0.74099	AGC		0.647	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1		NM_024578	
OR7E91P	79315	broad.mit.edu	37	2	71256242	71256242	+	RNA	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:71256242T>C	ENST00000434990.1	-	0	61																											AATGTGCTTCTTCCTCTCCAA	0.572																																																	0																																												79315																															2.37:g.71256242T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000434990.1	37																																																																																					0.572	AC007040.8-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000332235.4			
OSBPL9	114883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52249639	52249639	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:52249639T>A	ENST00000428468.1	+	18	1568	c.1566T>A	c.(1564-1566)caT>caA	p.H522Q	OSBPL9_ENST00000453295.1_Missense_Mutation_p.H505Q|OSBPL9_ENST00000447887.1_Missense_Mutation_p.H532Q|OSBPL9_ENST00000531828.1_Missense_Mutation_p.H357Q|OSBPL9_ENST00000361556.5_Missense_Mutation_p.H412Q|OSBPL9_ENST00000462759.1_Missense_Mutation_p.H344Q|OSBPL9_ENST00000371714.1_Missense_Mutation_p.H509Q|OSBPL9_ENST00000530544.1_Missense_Mutation_p.H441Q|OSBPL9_ENST00000435686.2_Missense_Mutation_p.H357Q|OSBPL9_ENST00000486942.1_Missense_Mutation_p.H344Q|OSBPL9_ENST00000337809.4_Missense_Mutation_p.H527Q|OSBPL9_ENST00000371710.3_Missense_Mutation_p.H540Q			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	522					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.H532Q(2)|p.H412Q(1)|p.H522Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCAATGCTCATATCTGGACCA	0.378																																																	4	Substitution - Missense(4)	kidney(4)											93.0	92.0	92.0					1																	52249639		2203	4300	6503	SO:0001583	missense	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1566T>A	1.37:g.52249639T>A	ENSP00000407168:p.His522Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937529	0.73557	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.24	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.89917	0.987;0.999;0.999;0.998;1.0	D;D;D;D;D	0.75484	0.985;0.986;0.979;0.979;0.984	T	0.57493	-0.7802	10	0.87932	D	0	-14.1619	6.2221	0.20687	0.0:0.372:0.0:0.628	.	505;412;538;522;527	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	Q	509;540;527;532;357;522;505;441;357;412;344;344	ENSP00000360779:H509Q;ENSP00000360775:H540Q;ENSP00000337265:H527Q;ENSP00000412733:H532Q;ENSP00000402646:H357Q;ENSP00000407168:H522Q;ENSP00000413263:H505Q;ENSP00000433675:H441Q;ENSP00000433083:H357Q;ENSP00000354970:H412Q;ENSP00000433279:H344Q;ENSP00000431980:H344Q	ENSP00000337265:H527Q	H	+	3	2	OSBPL9	52022227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.617000	0.36943	1.022000	0.39626	0.454000	0.30748	CAT		0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			
PAPD5	64282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50261849	50261849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:50261849C>T	ENST00000561678.1	+	10	1599	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	PAPD5_ENST00000436909.3_Nonsense_Mutation_p.Q619*|PAPD5_ENST00000357464.3_Nonsense_Mutation_p.Q540*|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	493	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.Q619*(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGTCCTCTCAGGCAGTTGG	0.488																																																	1	Substitution - Nonsense(1)	kidney(1)											97.0	94.0	95.0					16																	50261849		1938	4148	6086	SO:0001587	stop_gained	64282			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1525C>T	16.37:g.50261849C>T	ENSP00000455837:p.Gln509*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DV38|Q9NW67|Q9Y6C0	Nonsense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	C	38	6.945051	0.97952	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	.	.	.	6.17	6.17	0.99709	.	0.544685	0.21364	N	0.075753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	619;540	.	ENSP00000350054:Q540X	Q	+	1	0	PAPD5	48819350	1.000000	0.71417	0.936000	0.37596	0.990000	0.78478	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	CAG		0.488	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1		NM_022447	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52677265	52677265	+	Splice_Site	DEL	G	G	-	rs374515597		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:52677265delG	ENST00000296302.7	-	9	995	c.994delC	c.(994-996)cgt>gt	p.R332fs	PBRM1_ENST00000409057.1_Splice_Site_p.R332fs|PBRM1_ENST00000409767.1_Splice_Site_p.R332fs|PBRM1_ENST00000410007.1_Splice_Site_p.R332fs|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000409114.3_Splice_Site_p.R332fs|PBRM1_ENST00000337303.4_Splice_Site_p.R332fs|PBRM1_ENST00000394830.3_Splice_Site_p.R332fs			Q86U86	PB1_HUMAN	polybromo 1	332					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)			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)		TTTTCTCACCGGTAATACTTG	0.443			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													166.0	158.0	161.0					3																	52677265		2203	4300	6503	SO:0001630	splice_region_variant	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.995+1C>-	3.37:g.52677265delG		Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Frame_Shift_Del
PBXIP1	57326	broad.mit.edu;hgsc.bcm.edu	37	1	154920626	154920626	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:154920626C>T	ENST00000368463.3	-	6	697	c.626G>A	c.(625-627)gGg>gAg	p.G209E	PBXIP1_ENST00000542459.1_Missense_Mutation_p.G54E|PBXIP1_ENST00000539880.1_Missense_Mutation_p.G36E|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368460.3_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.G180E	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	209					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.G209E(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGGAGGACCCCCAGGCCAAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											57.0	49.0	52.0					1																	154920626		2202	4300	6502	SO:0001583	missense	57326			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.626G>A	1.37:g.154920626C>T	ENSP00000357448:p.Gly209Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465343	0.63513	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000542459	T;T;T;T	0.61274	0.12;0.3;0.8;0.66	4.64	4.64	0.57946	.	0.154812	0.39759	N	0.001268	T	0.69450	0.3112	M	0.71581	2.175	0.42374	D	0.992465	D	0.89917	1.0	D	0.97110	1.0	T	0.73895	-0.3838	10	0.87932	D	0	-29.9244	15.0333	0.71725	0.0:1.0:0.0:0.0	.	209	Q96AQ6	PBIP1_HUMAN	E	180;209;209;36;54	ENSP00000357450:G180E;ENSP00000357448:G209E;ENSP00000440142:G36E;ENSP00000438584:G54E	ENSP00000295523:G209E	G	-	2	0	PBXIP1	153187250	0.976000	0.34144	0.983000	0.44433	0.530000	0.34684	2.755000	0.47540	2.390000	0.81377	0.563000	0.77884	GGG		0.627	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1		NM_020524	
PDCD2L	84306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34904640	34904640	+	Splice_Site	SNP	A	A	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:34904640A>C	ENST00000246535.3	+	5	733		c.e5-1		PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like						cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.?(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTCTGTTTTTAGCCTTCCTAA	0.313																																																	1	Unknown(1)	kidney(1)											73.0	75.0	74.0					19																	34904640		2203	4300	6503	SO:0001630	splice_region_variant	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.687-1A>C	19.37:g.34904640A>C		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000246535.3	37	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	A	7.920	0.738277	0.15574	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.37	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2064	0.43116	0.8326:0.1674:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDCD2L	39596480	1.000000	0.71417	0.156000	0.22583	0.049000	0.14656	3.472000	0.53114	0.846000	0.35142	0.482000	0.46254	.		0.313	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3		NM_032346	Intron
PIGQ	9091	hgsc.bcm.edu	37	16	633353	633354	+	Missense_Mutation	DNP	TG	TG	CA	rs112194445|rs710924|rs710925|rs71391136	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:633353_633354TG>CA	ENST00000026218.5	+	10	2090_2091	c.2002_2003TG>CA	c.(2002-2004)TGt>CAt	p.C668H	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	668			C -> R (in dbSNP:rs710924).|C -> Y (in dbSNP:rs710925).		C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.C668R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCACCCTGTGTACCCAGGTC	0.693																																																	1	Substitution - Missense(1)	prostate(1)																																								SO:0001583	missense	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	Exception_encountered	16.37:g.633353_633354delinsCA	ENSP00000026218:p.Cys668His	Somatic		WXS	Illumina HiSeq	Phase_I	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	CCDS10411.1																																																																																				0.693	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2		NM_004204	
POLE2	5427	broad.mit.edu;ucsc.edu	37	14	50136257	50136257	+	Silent	SNP	G	G	A	rs139370609	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr14:50136257G>A	ENST00000216367.5	-	6	576	c.477C>T	c.(475-477)agC>agT	p.S159S	POLE2_ENST00000554396.1_Silent_p.S159S|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000539565.2_Silent_p.S133S	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	159					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.S159S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	ATTTGCTTCCGCTTTCATCAG	0.348													G|||	13	0.00259585	0.0098	0.0	5008	,	,		16922	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G	,,	29,4377	35.2+/-66.4	0,29,2174	86.0	84.0	85.0		399,477,477	-7.9	0.3	14	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	POLE2	NM_001197330.1,NM_001197331.1,NM_002692.3	,,	0,30,6473	AA,AG,GG		0.0116,0.6582,0.2307	,,	133/502,159/503,159/528	50136257	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	5427			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.477C>T	14.37:g.50136257G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	ENST00000216367.5	37	CCDS32073.1																																																																																				0.348	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1		NM_002692	
POLR3C	10623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145597524	145597524	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:145597524C>T	ENST00000334163.3	-	10	1220	c.1060G>A	c.(1060-1062)Gta>Ata	p.V354I	POLR3C_ENST00000471254.1_5'Flank|POLR3C_ENST00000369294.1_Missense_Mutation_p.V354I	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	354					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V354I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTCTCCTGTACGACGGACTCC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											141.0	120.0	127.0					1																	145597524		2203	4300	6503	SO:0001583	missense	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1060G>A	1.37:g.145597524C>T	ENSP00000334564:p.Val354Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240327	0.39598	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.52754	0.65;0.75	5.76	-0.49	0.12049	.	0.180272	0.48286	N	0.000192	T	0.11153	0.0272	L	0.31578	0.945	0.39238	D	0.963809	B;B;B	0.16166	0.016;0.013;0.01	B;B;B	0.14023	0.003;0.006;0.01	T	0.27468	-1.0073	10	0.07482	T	0.82	-6.2956	8.7912	0.34852	0.0:0.5053:0.0:0.4947	.	354;354;354	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	I	354	ENSP00000334564:V354I;ENSP00000358300:V354I	ENSP00000334564:V354I	V	-	1	0	POLR3C	144308881	0.994000	0.37717	0.051000	0.19133	0.800000	0.45204	2.728000	0.47319	-0.255000	0.09486	-0.136000	0.14681	GTA		0.448	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1		NM_006468	
POT1	25913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	124503402	124503402	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:124503402A>T	ENST00000357628.3	-	8	1145		c.e8+1		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAAAATATGTACCTTTAGAAG	0.368																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												2	Unknown(2)	kidney(2)											69.0	70.0	70.0					7																	124503402		2203	4299	6502	SO:0001630	splice_region_variant	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.546+1T>A	7.37:g.124503402A>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Splice_Site	SNP	ENST00000357628.3	37	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.731772	0.48939	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2026	0.65714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POT1	124290638	1.000000	0.71417	0.938000	0.37757	0.664000	0.39144	7.145000	0.77365	1.941000	0.56285	0.528000	0.53228	.		0.368	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			Intron
POTEH	23784	hgsc.bcm.edu	37	22	16287868	16287869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr22:16287868_16287869insC	ENST00000343518.6	-	1	68_69	c.17_18insG	c.(16-18)ggtfs	p.G6fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	6										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGGCATTGAACCAGCCTCAGC	0.584																																																	0																																										SO:0001589	frameshift_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.18dupG	22.37:g.16287870_16287870dupC	ENSP00000340610:p.Gly6fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Ins	INS	ENST00000343518.6	37	CCDS46658.1																																																																																				0.584	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4		NM_001136213	
PSTPIP2	9050	broad.mit.edu;hgsc.bcm.edu	37	18	43572169	43572169	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr18:43572169C>A	ENST00000409746.5	-	11	813		c.e11-1		RN7SKP26_ENST00000410247.1_RNA|PSTPIP2_ENST00000589328.1_Intron|PSTPIP2_ENST00000588801.1_Intron	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2							cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GTTCGTACATCTAATAAAAAA	0.423																																																	1	Unknown(1)	kidney(1)											56.0	53.0	54.0					18																	43572169		1567	3582	5149	SO:0001630	splice_region_variant	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.742-1G>T	18.37:g.43572169C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000409746.5	37	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029649	0.35797	.	.	ENSG00000152229	ENST00000409746	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.64	0.91392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSTPIP2	41826167	1.000000	0.71417	0.999000	0.59377	0.163000	0.22366	5.311000	0.65786	2.773000	0.95371	0.585000	0.79938	.		0.423	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			Intron
REEP2	51308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137776732	137776732	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:137776732C>T	ENST00000254901.5	+	2	182	c.60C>T	c.(58-60)gcC>gcT	p.A20A	REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Silent_p.A20A|REEP2_ENST00000506158.1_5'UTR	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	20					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.A20A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGTACCCAGCCTATTCTTCCT	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	87.0	91.0					5																	137776732		2203	4300	6503	SO:0001819	synonymous_variant	51308			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.60C>T	5.37:g.137776732C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561753	0.27915	.	.	ENSG00000132563	ENST00000512126	.	.	.	5.05	3.22	0.36961	.	.	.	.	.	T	0.60287	0.2257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57831	-0.7743	4	.	.	.	-8.1994	10.6924	0.45879	0.0:0.5667:0.3618:0.0715	.	.	.	.	L	58	.	.	P	+	2	0	REEP2	137804631	0.568000	0.26635	1.000000	0.80357	0.995000	0.86356	-0.219000	0.09228	1.260000	0.44134	0.561000	0.74099	CCT		0.577	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1		NM_016606	
RENBP	5973	broad.mit.edu;hgsc.bcm.edu	37	X	153205589	153205589	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:153205589A>G	ENST00000393700.3	-	9	1123	c.1043T>C	c.(1042-1044)cTc>cCc	p.L348P	RENBP_ENST00000369997.3_Missense_Mutation_p.L334P|RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	348					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.L348P(1)|p.L338P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TTGGTAGAAGAGGCGCAGCAG	0.607																																																	2	Substitution - Missense(2)	kidney(2)											125.0	89.0	101.0					X																	153205589		2203	4300	6503	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1043T>C	X.37:g.153205589A>G	ENSP00000377303:p.Leu348Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961353	0.34565	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T;T	0.32515	1.52;1.52;1.45	4.79	3.57	0.40892	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.277265	0.33670	N	0.004679	T	0.45895	0.1365	M	0.73962	2.25	0.39267	D	0.96432	D	0.76494	0.999	P	0.61592	0.891	T	0.42799	-0.9430	10	0.45353	T	0.12	-8.0936	5.7563	0.18174	0.6578:0.1727:0.0:0.1695	.	348	P51606	RENBP_HUMAN	P	348;334;27	ENSP00000377303:L348P;ENSP00000359014:L334P;ENSP00000409034:L27P	ENSP00000359014:L334P	L	-	2	0	RENBP	152858783	0.142000	0.22610	0.404000	0.26397	0.175000	0.22909	0.582000	0.23834	0.569000	0.29329	0.486000	0.48141	CTC		0.607	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3		NM_002910	
RSPRY1	89970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	57265167	57265167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:57265167delA	ENST00000537866.1	+	13	2338	c.1465delA	c.(1465-1467)atgfs	p.M489fs	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.M489fs			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	489						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCACCATCTATGAAATTTAG	0.368																																																	0													110.0	105.0	106.0					16																	57265167		2198	4300	6498	SO:0001589	frameshift_variant	89970			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1465delA	16.37:g.57265167delA	ENSP00000443176:p.Met489fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX21|Q8ND53	Frame_Shift_Del	DEL	ENST00000537866.1	37	CCDS10775.1																																																																																				0.368	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368	
RUNDC3A	10900	hgsc.bcm.edu	37	17	42393884	42393884	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr17:42393884A>T	ENST00000426726.3	+	9	1359	c.1085A>T	c.(1084-1086)tAc>tTc	p.Y362F	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.Y357F|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.Y362F	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	362					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCAAGCTCTACCGGAGGTAA	0.652																																					Pancreas(82;1061 1416 11136 20771 23901)												0													13.0	14.0	14.0					17																	42393884		1908	4118	6026	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.1085A>T	17.37:g.42393884A>T	ENSP00000410862:p.Tyr362Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	ENST00000426726.3	37	CCDS45698.1	.	.	.	.	.	.	.	.	.	.	a	14.73	2.621512	0.46736	.	.	ENSG00000108309	ENST00000426726;ENST00000225441	T;T	0.52295	0.67;0.67	5.42	3.13	0.36017	.	0.153933	0.45126	N	0.000381	T	0.32882	0.0844	N	0.25890	0.77	0.40201	D	0.977514	B;B;B;B	0.14012	0.002;0.009;0.009;0.009	B;B;B;B	0.16722	0.005;0.016;0.016;0.016	T	0.07158	-1.0787	10	0.33141	T	0.24	-14.4766	10.1744	0.42931	0.7354:0.0:0.0:0.2646	.	362;362;357;362	Q59EK9;Q59EK9-4;Q59EK9-2;Q59EK9-3	RUN3A_HUMAN;.;.;.	F	362	ENSP00000410862:Y362F;ENSP00000225441:Y362F	ENSP00000225441:Y362F	Y	+	2	0	RUNDC3A	39749410	1.000000	0.71417	0.937000	0.37676	0.960000	0.62799	2.203000	0.42752	0.319000	0.23209	0.374000	0.22700	TAC		0.652	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403173.2		NM_006695	
RUNX3	864	broad.mit.edu	37	1	25229102	25229102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:25229102delG	ENST00000308873.6	-	5	767	c.759delC	c.(757-759)cccfs	p.P253fs	RUNX3_ENST00000399916.1_Frame_Shift_Del_p.P267fs|RUNX3_ENST00000540420.1_Frame_Shift_Del_p.P160fs|RUNX3_ENST00000338888.3_Frame_Shift_Del_p.P267fs|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	253	Pro/Ser/Thr-rich.			P -> S (in Ref. 2; CAA56093). {ECO:0000305}.	axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TTGGCAGCGTGGGGAAGGAGC	0.647																																																	0													78.0	77.0	77.0					1																	25229102		2190	4288	6478	SO:0001589	frameshift_variant	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.759delC	1.37:g.25229102delG	ENSP00000308051:p.Pro253fs	Somatic		WXS	Illumina GAIIx	Phase_I	B1AJV5|Q12969|Q13760	Frame_Shift_Del	DEL	ENST00000308873.6	37	CCDS257.1																																																																																				0.647	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1		NM_004350	
SEMA4B	10509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90768565	90768565	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:90768565T>A	ENST00000411539.2	+	11	1717	c.1457T>A	c.(1456-1458)aTt>aAt	p.I486N	SEMA4B_ENST00000379122.3_Missense_Mutation_p.I481N|SEMA4B_ENST00000332496.6_Missense_Mutation_p.I486N	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	481	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)	p.I486N(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GTGCACATCATTGAGGAGCTG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											39.0	46.0	44.0					15																	90768565		2056	4175	6231	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1457T>A	15.37:g.90768565T>A	ENSP00000394720:p.Ile486Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	ENST00000411539.2	37	CCDS45347.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220811	0.58560	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.34275	1.37;1.37;1.37	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.051045	0.85682	D	0.000000	T	0.68559	0.3014	M	0.92970	3.365	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.997	T	0.77459	-0.2580	10	0.87932	D	0	.	14.5494	0.68054	0.0:0.0:0.0:1.0	.	481;486;481	Q9NPR2-2;Q2NL81;Q9NPR2	.;.;SEM4B_HUMAN	N	486;481;486	ENSP00000332204:I486N;ENSP00000368417:I481N;ENSP00000394720:I486N	ENSP00000332204:I486N	I	+	2	0	SEMA4B	88569569	1.000000	0.71417	0.195000	0.23364	0.097000	0.18754	7.872000	0.87187	2.047000	0.60756	0.459000	0.35465	ATT		0.637	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416810.1		NM_198925	
SLC15A4	121260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129293991	129293991	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr12:129293991G>A	ENST00000266771.5	-	4	1078	c.1039C>T	c.(1039-1041)Ctt>Ttt	p.L347F	SLC15A4_ENST00000544112.1_Missense_Mutation_p.L10F|SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	347					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.L347F(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CTCAAATGAAGACTCTGTAAA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											174.0	181.0	179.0					12																	129293991		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1039C>T	12.37:g.129293991G>A	ENSP00000266771:p.Leu347Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	G	30	5.049910	0.93740	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.04234	3.67;3.67;3.67	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	M	0.68317	2.08	0.80722	D	1	D	0.59767	0.986	D	0.67548	0.952	T	0.00006	-1.2512	10	0.54805	T	0.06	.	20.3128	0.98645	0.0:0.0:1.0:0.0	.	347	Q8N697	S15A4_HUMAN	F	347;10;47	ENSP00000266771:L347F;ENSP00000439946:L10F;ENSP00000365930:L47F	ENSP00000266771:L347F	L	-	1	0	SLC15A4	127859944	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.087000	0.76893	2.808000	0.96608	0.561000	0.74099	CTT		0.358	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1		NM_145648	
SLC15A4	121260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	129293993	129293993	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr12:129293993C>A	ENST00000266771.5	-	4	1076	c.1037G>T	c.(1036-1038)aGt>aTt	p.S346I	SLC15A4_ENST00000544112.1_Missense_Mutation_p.S9I|SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	346					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)	p.S346I(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		CAAATGAAGACTCTGTAAAAC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											173.0	180.0	178.0					12																	129293993		2203	4300	6503	SO:0001583	missense	121260			AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1037G>T	12.37:g.129293993C>A	ENSP00000266771:p.Ser346Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966180	0.92855	.	.	ENSG00000139370	ENST00000266771;ENST00000544112;ENST00000376740	T;T;T	0.59364	0.27;3.67;3.67	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.076378	0.85682	D	0.000000	T	0.75027	0.3794	M	0.67953	2.075	0.58432	D	0.999998	D	0.64830	0.994	D	0.63597	0.916	T	0.75725	-0.3217	10	0.87932	D	0	.	20.3128	0.98645	0.0:1.0:0.0:0.0	.	346	Q8N697	S15A4_HUMAN	I	346;9;46	ENSP00000266771:S346I;ENSP00000439946:S9I;ENSP00000365930:S46I	ENSP00000266771:S346I	S	-	2	0	SLC15A4	127859946	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.048000	0.76606	2.808000	0.96608	0.561000	0.74099	AGT		0.368	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1		NM_145648	
SLC30A10	55532	broad.mit.edu	37	1	220057507	220057507	+	IGR	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr1:220057507delC								RNA5SP76 (122290 upstream) : SLC30A10 (30098 downstream)																							gttggctcctcccccagctgc	0.547																																																	0																																										SO:0001628	intergenic_variant	55532																															1.37:g.220057507delC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.547									
SLC46A3	283537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29275084	29275084	+	3'UTR	SNP	T	T	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:29275084T>G	ENST00000266943.6	-	0	2305				SLC46A3_ENST00000475385.1_5'UTR|SLC46A3_ENST00000380814.4_Nonstop_Mutation_p.*464Y|RNU6-53P_ENST00000365367.1_RNA	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.*464Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAATAGCAGCTTAACAGGCTC	0.318																																																	1	Nonstop extension(1)	kidney(1)											80.0	69.0	72.0					13																	29275084		692	1590	2282	SO:0001624	3_prime_UTR_variant	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*550A>C	13.37:g.29275084T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	T	1.712	-0.498860	0.04291	.	.	ENSG00000139508	ENST00000380814	.	.	.	4.34	-1.77	0.07982	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8761	0.09058	0.5008:0.0996:0.0:0.3995	.	.	.	.	Y	464	.	.	X	-	3	2	SLC46A3	28173084	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.317000	0.19487	-0.023000	0.13963	0.533000	0.62120	TAA		0.318	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1		NM_181785	
SLC5A4	6527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32633231	32633231	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr22:32633231C>G	ENST00000266086.4	-	7	675	c.664G>C	c.(664-666)Gca>Cca	p.A222P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	222					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CATCACTTACCAAACCCCATG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											81.0	58.0	66.0					22																	32633231		2203	4300	6503	SO:0001630	splice_region_variant	6527			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.664+1G>C	22.37:g.32633231C>G		Somatic		WXS	Illumina HiSeq	Phase_I	O15279	Missense_Mutation	SNP	ENST00000266086.4	37	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.018176	0.75275	.	.	ENSG00000100191	ENST00000266086	D	0.89485	-2.52	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.94808	3.585	0.80722	D	1	D	0.53619	0.961	D	0.70227	0.968	D	0.96734	0.9541	9	.	.	.	.	15.2227	0.73327	0.0:1.0:0.0:0.0	.	222	Q9NY91	SC5A4_HUMAN	P	222	ENSP00000266086:A222P	.	A	-	1	0	SLC5A4	30963231	1.000000	0.71417	0.981000	0.43875	0.683000	0.39861	4.606000	0.61126	2.541000	0.85698	0.655000	0.94253	GCA		0.502	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1		NM_014227	Missense_Mutation
SLC7A6	9057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68328656	68328656	+	Silent	SNP	C	C	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:68328656C>A	ENST00000566454.1	+	9	1340	c.1071C>A	c.(1069-1071)tcC>tcA	p.S357S	SLC7A6_ENST00000219343.6_Silent_p.S357S	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6									p.S357S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		ACCTTCTGTCCATGATCCACA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											254.0	229.0	237.0					16																	68328656		2198	4300	6498	SO:0001819	synonymous_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1071C>A	16.37:g.68328656C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000566454.1	37	CCDS32470.1																																																																																				0.517	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432466.1		NM_003983	
SLC9C1	285335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	111923204	111923204	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:111923204A>C	ENST00000305815.5	-	17	2285	c.2033T>G	c.(2032-2034)tTc>tGc	p.F678C	SLC9C1_ENST00000487372.1_Missense_Mutation_p.F630C	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	678	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.F678C(1)									TGCTAACTCGAATATGTTCCA	0.294																																																	1	Substitution - Missense(1)	kidney(1)											132.0	132.0	132.0					3																	111923204		2202	4297	6499	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2033T>G	3.37:g.111923204A>C	ENSP00000306627:p.Phe678Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903123	0.33628	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	D;D	0.97850	-4.57;-4.57	5.58	5.58	0.84498	.	0.202328	0.35495	N	0.003178	D	0.98701	0.9564	M	0.89163	3.01	0.30038	N	0.812854	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.936	D	0.97053	0.9765	10	0.87932	D	0	.	12.1497	0.54044	1.0:0.0:0.0:0.0	.	630;678	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	C	678;630	ENSP00000306627:F678C;ENSP00000420688:F630C	ENSP00000306627:F678C	F	-	2	0	SLC9A10	113405894	1.000000	0.71417	0.253000	0.24343	0.012000	0.07955	4.712000	0.61888	2.114000	0.64651	0.379000	0.24179	TTC		0.294	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1		NM_183061	
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101592957	101592957	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:101592957G>C	ENST00000310954.6	-	8	1617	c.1331C>G	c.(1330-1332)tCa>tGa	p.S444*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.S444*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTGAATTTTGAAACAAGGAA	0.363																																																	1	Substitution - Nonsense(1)	kidney(1)											86.0	87.0	87.0					5																	101592957		2203	4300	6503	SO:0001587	stop_gained	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1331C>G	5.37:g.101592957G>C	ENSP00000309741:p.Ser444*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	41	8.626777	0.98890	.	.	ENSG00000173930	ENST00000310954	.	.	.	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9918	0.97368	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000309741:S444X	S	-	2	0	SLCO4C1	101620856	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.960000	0.76036	2.728000	0.93425	0.585000	0.79938	TCA		0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991	
SLITRK5	26050	broad.mit.edu;ucsc.edu	37	13	88329235	88329235	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:88329235T>C	ENST00000325089.6	+	2	1811	c.1592T>C	c.(1591-1593)cTc>cCc	p.L531P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.L290P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	531					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.L531P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGACCCTCCTCAGGCTAAAC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											67.0	69.0	68.0					13																	88329235		2203	4300	6503	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1592T>C	13.37:g.88329235T>C	ENSP00000366283:p.Leu531Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235834	0.22626	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58358	0.34;0.34	5.01	3.8	0.43715	.	0.262607	0.32578	N	0.005902	T	0.50188	0.1601	L	0.53671	1.685	0.58432	D	0.999992	B;B	0.23540	0.087;0.036	B;B	0.40602	0.334;0.233	T	0.41858	-0.9485	9	.	.	.	-15.1605	4.3141	0.10984	0.1767:0.0936:0.0:0.7297	.	290;531	B4DSH5;O94991	.;SLIK5_HUMAN	P	531;290	ENSP00000366283:L531P;ENSP00000442244:L290P	.	L	+	2	0	SLITRK5	87127236	0.094000	0.21725	0.998000	0.56505	0.995000	0.86356	1.910000	0.39927	0.719000	0.32188	0.459000	0.35465	CTC		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			
SLMAP	7871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57913033	57913033	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr3:57913033C>G	ENST00000428312.1	+	22	2499	c.2405C>G	c.(2404-2406)cCc>cGc	p.P802R	SLMAP_ENST00000442599.2_Missense_Mutation_p.P270R|SLMAP_ENST00000295951.3_Missense_Mutation_p.P785R|SLMAP_ENST00000449503.2_Missense_Mutation_p.P764R|SLMAP_ENST00000295952.3_Missense_Mutation_p.P785R|SLMAP_ENST00000495364.1_Missense_Mutation_p.P336R|SLMAP_ENST00000494088.1_3'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	802					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.P785R(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAACCCTGGCCCTGGATGCCC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											100.0	81.0	87.0					3																	57913033		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2405C>G	3.37:g.57913033C>G	ENSP00000398661:p.Pro802Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37		.	.	.	.	.	.	.	.	.	.	C	15.76	2.929809	0.52759	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364	T;T;T;T;T;T	0.44881	1.49;1.49;1.5;1.47;0.91;0.92	5.28	5.28	0.74379	.	0.443736	0.25897	N	0.027591	T	0.61602	0.2360	L	0.51422	1.61	0.80722	D	1	D;D;D;P	0.89917	0.986;0.999;1.0;0.774	P;D;D;B	0.85130	0.878;0.952;0.997;0.211	T	0.62599	-0.6820	10	0.66056	D	0.02	-5.2539	19.2726	0.94016	0.0:1.0:0.0:0.0	.	270;764;802;785	C9JPE6;Q14BN4-2;Q14BN4;Q14BN4-3	.;.;SLMAP_HUMAN;.	R	785;785;802;764;425;270;336	ENSP00000295951:P785R;ENSP00000295952:P785R;ENSP00000398661:P802R;ENSP00000412945:P764R;ENSP00000388978:P270R;ENSP00000419543:P336R	ENSP00000295951:P785R	P	+	2	0	SLMAP	57888073	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.993000	0.76245	2.619000	0.88677	0.655000	0.94253	CCC		0.517	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1		NM_007159	
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11113809	11113809	+	Silent	SNP	G	G	T	rs187681043		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:11113809G>T	ENST00000429416.3	+	13	2198	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	SMARCA4_ENST00000541122.2_Silent_p.L639L|SMARCA4_ENST00000358026.2_Silent_p.L639L|SMARCA4_ENST00000589677.1_Silent_p.L639L|SMARCA4_ENST00000444061.3_Silent_p.L639L|SMARCA4_ENST00000413806.3_Silent_p.L639L|SMARCA4_ENST00000590574.1_Silent_p.L639L|SMARCA4_ENST00000450717.3_Silent_p.L639L|SMARCA4_ENST00000344626.4_Silent_p.L639L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	639					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L639L(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGGCAGCTGGAGGCCTGGC	0.627			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	3	Substitution - coding silent(2)|Unknown(1)	kidney(2)|lung(1)											63.0	69.0	67.0					19																	11113809		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1917G>T	19.37:g.11113809G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1																																																																																				0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	
SNX8	29886	broad.mit.edu;ucsc.edu	37	7	2314823	2314823	+	Silent	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:2314823C>T	ENST00000222990.3	-	3	384	c.342G>A	c.(340-342)gtG>gtA	p.V114V		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	114	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.V114V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCTGGAAGACCACGAAGTCAT	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											197.0	176.0	183.0					7																	2314823		2203	4300	6503	SO:0001819	synonymous_variant	29886			AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.342G>A	7.37:g.2314823C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A4D207|Q96I67	Silent	SNP	ENST00000222990.3	37	CCDS5331.1																																																																																				0.562	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			
STC2	8614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	172745139	172745139	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr5:172745139A>G	ENST00000265087.4	-	4	1929	c.620T>C	c.(619-621)aTc>aCc	p.I207T	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	207					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.I207T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAGCTCAAGATGGAGCACAG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											58.0	51.0	53.0					5																	172745139		2203	4300	6503	SO:0001583	missense	8614			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.620T>C	5.37:g.172745139A>G	ENSP00000265087:p.Ile207Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000265087.4	37	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007213	0.54361	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.29	4.14	0.48551	.	0.045183	0.85682	D	0.000000	T	0.42245	0.1194	N	0.22421	0.69	0.41481	D	0.988166	B	0.27416	0.178	B	0.28709	0.093	T	0.41716	-0.9493	9	0.45353	T	0.12	-27.8827	10.4975	0.44785	0.9242:0.0:0.0758:0.0	.	207	O76061	STC2_HUMAN	T	207	.	ENSP00000265087:I207T	I	-	2	0	STC2	172677745	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.189000	0.58358	1.991000	0.58162	0.528000	0.53228	ATC		0.647	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1		NM_003714	
TANK	10010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	162091890	162091890	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr2:162091890C>T	ENST00000392749.2	+	8	1378	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	TANK_ENST00000402568.1_3'UTR|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.R406W|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_3'UTR|TANK_ENST00000259075.2_Missense_Mutation_p.S380L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	380					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S380L(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GACAGTGACTCGGTGGTACTA	0.418																																																	3	Substitution - Missense(3)	large_intestine(2)|kidney(1)											172.0	164.0	167.0					2																	162091890		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1139C>T	2.37:g.162091890C>T	ENSP00000376505:p.Ser380Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.058|5.058	0.196409|0.196409	0.09599|0.09599	.|.	.|.	ENSG00000136560|ENSG00000136560	ENST00000405852|ENST00000259075;ENST00000392749;ENST00000439442	T|T;T;T	0.35605|0.19806	1.3|2.12;2.12;2.18	5.63|5.63	4.38|4.38	0.52667|0.52667	.|.	.|0.153629	.|0.42294	.|N	.|0.000723	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.00960|0.00960	-1.095|-1.095	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.26985|0.26985	-1.0087|-1.0087	7|10	0.51188|0.02654	T|T	0.08|1	-4.8203|-4.8203	10.3619|10.3619	0.43998|0.43998	0.0:0.0855:0.0:0.9145|0.0:0.0855:0.0:0.9145	.|.	.|380	.|Q92844	.|TANK_HUMAN	W|L	406|380;380;153	ENSP00000385487:R406W|ENSP00000259075:S380L;ENSP00000376505:S380L;ENSP00000387439:S153L	ENSP00000385487:R406W|ENSP00000259075:S380L	R|S	+|+	1|2	2|0	TANK|TANK	161800136|161800136	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.864000|0.864000	0.49448|0.49448	2.765000|2.765000	0.47621|0.47621	0.845000|0.845000	0.35118|0.35118	-0.218000|-0.218000	0.12543|0.12543	CGG|TCG		0.418	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1		NM_133484	
TMEM133	83935	broad.mit.edu;ucsc.edu	37	11	100863191	100863191	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr11:100863191A>G	ENST00000303130.2	+	1	381	c.152A>G	c.(151-153)tAc>tGc	p.Y51C		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	51						integral component of membrane (GO:0016021)		p.Y51C(1)		kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTTGCCTCCTACCCTTTTTTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											137.0	135.0	135.0					11																	100863191		2203	4300	6503	SO:0001583	missense	83935			AF247167	CCDS8309.1	11q22.1	2006-03-09				ENSG00000170647			24033	protein-coding gene	gene with protein product						12477932	Standard	NM_032021		Approved	AD031	uc001pgf.3	Q9H2Q1		ENST00000303130.2:c.152A>G	11.37:g.100863191A>G	ENSP00000303999:p.Tyr51Cys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000303130.2	37	CCDS8309.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969962	0.34754	.	.	ENSG00000170647	ENST00000303130	.	.	.	3.89	-5.16	0.02857	.	.	.	.	.	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.18263	0.021	T	0.21245	-1.0251	8	0.87932	D	0	.	4.3547	0.11172	0.2191:0.0:0.2962:0.4847	.	51	Q9H2Q1	TM133_HUMAN	C	51	.	ENSP00000303999:Y51C	Y	+	2	0	TMEM133	100368401	0.000000	0.05858	0.000000	0.03702	0.546000	0.35178	-0.479000	0.06567	-1.098000	0.03038	0.533000	0.62120	TAC		0.398	TMEM133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395137.1		NM_032021	
TMPRSS11F	389208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68995527	68995527	+	Splice_Site	SNP	C	C	T	rs148740696		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:68995527C>T	ENST00000356291.2	-	1	71		c.e1+1			NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.?(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGAATACTTACGCGTACATCA	0.443																																																	2	Unknown(2)	endometrium(1)|kidney(1)											129.0	111.0	117.0					4																	68995527		2203	4300	6503	SO:0001630	splice_region_variant	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.11+1G>A	4.37:g.68995527C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780412	0.31502	.	.	ENSG00000198092	ENST00000356291	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2005	0.65699	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMPRSS11F	68678122	0.999000	0.42202	0.998000	0.56505	0.347000	0.29111	3.221000	0.51215	2.727000	0.93392	0.650000	0.86243	.		0.443	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1		NM_207407	Intron
TNNT1	7138	broad.mit.edu;hgsc.bcm.edu	37	19	55645562	55645562	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:55645562C>G	ENST00000588981.1	-	12	826	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	TNNT1_ENST00000536926.1_Intron|TNNT1_ENST00000587758.1_Intron|TNNT1_ENST00000587465.2_Intron|TNNT1_ENST00000291901.8_Intron|TNNT1_ENST00000356783.5_Intron|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000585321.2_Intron	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	208					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)	p.A208P(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGCAGCCAGGCAGACCGGGCC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											18.0	18.0	18.0					19																	55645562		2196	4292	6488	SO:0001583	missense	7138				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.622G>C	19.37:g.55645562C>G	ENSP00000467176:p.Ala208Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	c	9.212	1.031190	0.19590	.	.	ENSG00000105048	ENST00000291901	.	.	.	2.71	0.318	0.15867	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23404	-1.0189	8	0.28530	T	0.3	.	4.8648	0.13602	0.2474:0.5112:0.2414:0.0	.	208	P13805	TNNT1_HUMAN	P	208	.	ENSP00000291901:A208P	A	-	1	0	TNNT1	60337374	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	-0.376000	0.07465	0.164000	0.19529	0.443000	0.29094	GCC		0.622	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2		NM_003283	
TSPAN5	10098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	99407929	99407929	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr4:99407929C>T	ENST00000305798.3	-	3	641	c.239G>A	c.(238-240)tGc>tAc	p.C80Y	TSPAN5_ENST00000505184.1_Missense_Mutation_p.C9Y|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	80					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.C80Y(2)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CGCTCCAATGCACCCTGCAAA	0.483																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											165.0	153.0	157.0					4																	99407929		2203	4300	6503	SO:0001583	missense	10098				CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.239G>A	4.37:g.99407929C>T	ENSP00000307701:p.Cys80Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900871	0.52227	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.51	5.51	0.81932	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94095	0.8107	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.95137	0.8260	10	0.87932	D	0	.	19.614	0.95622	0.0:1.0:0.0:0.0	.	80	P62079	TSN5_HUMAN	Y	80;9;9;9	ENSP00000307701:C80Y;ENSP00000423916:C9Y;ENSP00000423504:C9Y;ENSP00000426248:C9Y	ENSP00000307701:C80Y	C	-	2	0	TSPAN5	99626952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.495000	0.81514	2.873000	0.98535	0.561000	0.74099	TGC		0.483	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2		NM_005723	
RP11-146E13.4	0	broad.mit.edu	37	14	19856672	19856672	+	lincRNA	SNP	C	C	A	rs373841669		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr14:19856672C>A	ENST00000548109.1	+	0	72																											TTTCTTCTTTCACTCTTCAGG	0.249																																																	0																																												0																															14.37:g.19856672C>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000548109.1	37																																																																																					0.249	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			
RP11-44F14.1	0	broad.mit.edu	37	16	53403273	53403273	+	RNA	DEL	A	A	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr16:53403273delA	ENST00000565421.1	-	0	1344																											actccatctcaaaaaaaaaag	0.438																																																	0																																												0																															16.37:g.53403273delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000565421.1	37																																																																																					0.438	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			
SLC25A1P5	642290	broad.mit.edu	37	19	28297113	28297113	+	RNA	DEL	T	T	-	rs77586400		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:28297113delT	ENST00000592806.1	+	0	163																											GGGATGCAGATTTTTTTTTTC	0.458																																																	0																																												0																															19.37:g.28297113delT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000592806.1	37																																																																																					0.458	LLNLF-65H9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000452876.1			
LOC100420587	100420587	broad.mit.edu	37	19	28927087	28927087	+	lincRNA	DEL	C	C	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr19:28927087delC	ENST00000592347.1	-	0	2320																											CTGTGCCCTTCCTCCAGTCTT	0.408																																																	0																																												0																															19.37:g.28927087delC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000592347.1	37																																																																																					0.408	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			
USP42	84132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6154957	6154957	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr7:6154957T>C	ENST00000306177.5	+	3	403	c.245T>C	c.(244-246)cTa>cCa	p.L82P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	82					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.L82P(1)|p.L210P(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCTAGCCCTAGGTGATGGC	0.408																																																	2	Substitution - Missense(2)	kidney(2)											113.0	104.0	107.0					7																	6154957		1867	4099	5966	SO:0001583	missense	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.245T>C	7.37:g.6154957T>C	ENSP00000301962:p.Leu82Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351546	0.24512	.	.	ENSG00000106346	ENST00000306177	T	0.15372	2.43	5.51	3.16	0.36331	.	0.478583	0.18699	N	0.133621	T	0.06188	0.0160	N	0.02368	-0.58	0.38739	D	0.953841	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.27365	-1.0076	10	0.23302	T	0.38	.	7.9276	0.29883	0.0:0.2145:0.0:0.7855	.	82;82	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	P	82	ENSP00000301962:L82P	ENSP00000301962:L82P	L	+	2	0	USP42	6121483	0.904000	0.30761	1.000000	0.80357	0.632000	0.37999	1.253000	0.32886	0.928000	0.37168	-0.256000	0.11100	CTA		0.408	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3		XM_166526	
VPS13A	23230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79936445	79936445	+	Silent	SNP	C	C	T	rs139782359		TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr9:79936445C>T	ENST00000360280.3	+	44	5873	c.5613C>T	c.(5611-5613)ttC>ttT	p.F1871F	VPS13A_ENST00000376636.3_Silent_p.F1832F|VPS13A_ENST00000376634.4_Silent_p.F1871F|VPS13A_ENST00000357409.5_Silent_p.F1871F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1871					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.F1871F(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGCTGACTTCGTAAAGGATC	0.343																																																	3	Substitution - coding silent(3)	kidney(3)						C	,,,	1,4405	2.1+/-5.4	0,1,2202	66.0	70.0	69.0		5496,5613,5613,5613	-0.3	0.0	9	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	1832/3136,1871/3070,1871/3096,1871/3175	79936445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5613C>T	9.37:g.79936445C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Silent	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.493135	0.01009	2.27E-4	0.0	ENSG00000197969	ENST00000419472	.	.	.	5.8	-0.354	0.12591	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31971	-0.9924	4	.	.	.	.	10.3589	0.43980	0.0:0.5544:0.0:0.4456	.	.	.	.	L	124	.	.	S	+	2	0	VPS13A	79126265	0.602000	0.26916	0.000000	0.03702	0.076000	0.17211	1.092000	0.30927	-0.348000	0.08286	0.460000	0.39030	TCG		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186	
ZKSCAN3	80317	hgsc.bcm.edu	37	6	28327609	28327635	+	In_Frame_Del	DEL	GGAGCAGATCCTGGAGCTGCTGGTGCT	GGAGCAGATCCTGGAGCTGCTGGTGCT	-	rs200907251|rs537641620|rs201695426	byFrequency	TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	GGAGCAGATCCTGGAGCTGCTGGTGCT	GGAGCAGATCCTGGAGCTGCTGGTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr6:28327609_28327635delGGAGCAGATCCTGGAGCTGCTGGTGCT	ENST00000377255.3	+	3	543_569	c.246_272delGGAGCAGATCCTGGAGCTGCTGGTGCT	c.(244-273)aaggagcagatcctggagctgctggtgctg>aag	p.EQILELLVL83del	ZKSCAN3_ENST00000252211.2_In_Frame_Del_p.EQILELLVL83del|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	83	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L89L(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGCACAGCAAGGAGCAGATCCTGGAGCTGCTGGTGCTGGAGCAGTTC	0.648														4	0.000798722	0.0	0.0	5008	,	,		19718	0.0		0.004	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)							,,	1,4255		0,1,2127					,,	3.7	1.0			37	18,8224		2,14,4105	no	coding,intron,coding	ZKSCAN3	NM_024493.3,NM_001242895.1,NM_001242894.1	,,	2,15,6232	A1A1,A1R,RR		0.2184,0.0235,0.152	,,	,,		19,12479				SO:0001651	inframe_deletion	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.246_272delGGAGCAGATCCTGGAGCTGCTGGTGCT	6.37:g.28327609_28327635delGGAGCAGATCCTGGAGCTGCTGGTGCT	ENSP00000366465:p.Glu83_Leu91del	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	In_Frame_Del	DEL	ENST00000377255.3	37	CCDS4650.1																																																																																				0.648	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3		NM_024493	
ZMAT1	84460	broad.mit.edu;hgsc.bcm.edu	37	X	101138801	101138810	+	Frame_Shift_Del	DEL	CCTGCTTGAT	CCTGCTTGAT	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	CCTGCTTGAT	CCTGCTTGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:101138801_101138810delCCTGCTTGAT	ENST00000372782.3	-	7	1636_1645	c.1589_1598delATCAAGCAGG	c.(1588-1599)catcaagcaggtfs	p.HQAG530fs	ZMAT1_ENST00000540921.1_Frame_Shift_Del_p.HQAG530fs|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Frame_Shift_Del_p.HQAG359fs	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	530						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTGTTTATGACCTGCTTGATGGTCAGCAGT	0.4																																																	0																																										SO:0001589	frameshift_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1589_1598delATCAAGCAGG	X.37:g.101138801_101138810delCCTGCTTGAT	ENSP00000361868:p.His530fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDS3|Q96JN6	Frame_Shift_Del	DEL	ENST00000372782.3	37	CCDS35348.1																																																																																				0.400	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			
ZMAT1	84460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101138798	101138799	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chrX:101138798_101138799delTG	ENST00000372782.3	-	7	1647_1648	c.1600_1601delCA	c.(1600-1602)catfs	p.H534fs	ZMAT1_ENST00000540921.1_Frame_Shift_Del_p.H534fs|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Frame_Shift_Del_p.H363fs	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTGTTTATGACCTGCTTGA	0.391																																																	0																																										SO:0001589	frameshift_variant	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1600_1601delCA	X.37:g.101138798_101138799delTG	ENSP00000361868:p.His534fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDS3|Q96JN6	Frame_Shift_Del	DEL	ENST00000372782.3	37	CCDS35348.1																																																																																				0.391	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			
ZMYM2	7750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20638656	20638656	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr13:20638656G>C	ENST00000382874.2	+	20	3293	c.3103G>C	c.(3103-3105)Gaa>Caa	p.E1035Q	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1035Q|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E1035Q	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1035					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.E1035Q(2)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAATATGAGGAACAGCCCAG	0.338																																																	2	Substitution - Missense(2)	kidney(2)											122.0	110.0	114.0					13																	20638656		1814	4078	5892	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3103G>C	13.37:g.20638656G>C	ENSP00000372327:p.Glu1035Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517460	0.64634	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.18960	2.18	5.52	5.52	0.82312	.	0.371645	0.32884	N	0.005534	T	0.16342	0.0393	L	0.34521	1.04	0.80722	D	1	P	0.43477	0.808	B	0.29785	0.107	T	0.02868	-1.1100	10	0.44086	T	0.13	-25.7202	19.8024	0.96513	0.0:0.0:1.0:0.0	.	1035	Q9UBW7	ZMYM2_HUMAN	Q	1035;1035;1033;1033;413	ENSP00000372322:E1035Q	ENSP00000372322:E1035Q	E	+	1	0	ZMYM2	19536656	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.103000	0.77014	2.752000	0.94435	0.655000	0.94253	GAA		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453	
ZNF236	7776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	74620408	74620408	+	Silent	SNP	G	G	A			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr18:74620408G>A	ENST00000253159.8	+	14	2622	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	ZNF236_ENST00000320610.9_Silent_p.T810T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	808					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T808T(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGCCGCAGACGGCAGAGGTGG	0.632																																																	2	Substitution - coding silent(2)	kidney(2)											53.0	60.0	58.0					18																	74620408		2108	4212	6320	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2424G>A	18.37:g.74620408G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTX9|Q9UL37	Silent	SNP	ENST00000253159.8	37	CCDS42447.1																																																																																				0.632	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126662823	126662823	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr10:126662823T>C	ENST00000359653.4	+	5	1654	c.1283T>C	c.(1282-1284)tTg>tCg	p.L428S		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	428	TRAF-binding.				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.L428S(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)		GCTACACGTTTGGACAGTCGA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											145.0	137.0	140.0					10																	126662823		2203	4300	6503	SO:0001583	missense	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.1283T>C	10.37:g.126662823T>C	ENSP00000352676:p.Leu428Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.914253	0.92178	.	.	ENSG00000019995	ENST00000359653	T	0.21932	1.98	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	M	0.66939	2.045	0.80722	D	1	D	0.59767	0.986	P	0.54312	0.748	T	0.13818	-1.0495	10	0.51188	T	0.08	-24.5709	16.0421	0.80691	0.0:0.0:0.0:1.0	.	428	Q9UGI0	ZRAN1_HUMAN	S	428	ENSP00000352676:L428S	ENSP00000352676:L428S	L	+	2	0	ZRANB1	126652813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.018000	0.88722	2.192000	0.70111	0.533000	0.62120	TTG		0.423	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580	
ZSCAN29	146050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43661269	43661269	+	Silent	SNP	T	T	C			TCGA-CZ-5453-01A-01D-1501-10	TCGA-CZ-5453-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	605079f6-2d6e-4c38-a214-b4c8875dd166	7f87fb18-2e76-4208-b76d-a3990c782aeb	g.chr15:43661269T>C	ENST00000396976.2	-	2	509	c.375A>G	c.(373-375)aaA>aaG	p.K125K	ZSCAN29_ENST00000396972.1_Silent_p.K125K|ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000568898.1_Silent_p.K124K|ZSCAN29_ENST00000562072.1_Silent_p.K124K|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	125					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K125K(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTGTGATGATTTCGGGGGTG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	97.0	97.0					15																	43661269		2201	4299	6500	SO:0001819	synonymous_variant	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.375A>G	15.37:g.43661269T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	CCDS10095.2																																																																																				0.522	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1		NM_152455	
