#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
SFRP4	6424	hgsc.bcm.edu	37	7	37955773	37955773	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:37955773G>C	ENST00000436072.2	-	1	744	c.367C>G	c.(367-369)Ctg>Gtg	p.L123V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	123	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCGCAGGCCAGGCTTTCGGGC	0.637																																																	0			7											56.0	51.0	53.0					7																	37955773		2203	4300	6503	37922298	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.367C>G	7.37:g.37955773G>C	ENSP00000410715:p.Leu123Val	Somatic		Capture	Illumina HiSeq	Phase_I	37922298	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810107	0.70797	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	D	0.83591	-1.74	4.28	4.28	0.50868	Frizzled domain (5);	0.082585	0.51477	D	0.000089	D	0.91703	0.7377	M	0.86343	2.81	0.44129	D	0.996912	D	0.89917	1.0	D	0.87578	0.998	D	0.92686	0.6162	10	0.52906	T	0.07	.	15.6407	0.76997	0.0:0.0:1.0:0.0	.	123	Q6FHJ7	SFRP4_HUMAN	V	123;120	ENSP00000410715:L123V	ENSP00000410715:L123V	L	-	1	2	SFRP4	37922298	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.297000	0.65704	2.205000	0.71048	0.650000	0.86243	CTG		SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
PSPH	5723	hgsc.bcm.edu	37	7	56079456	56079456	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:56079456T>C	ENST00000395471.3	-	8	1482	c.677A>G	c.(676-678)tAa>tGa	p.*226*	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Silent_p.*226*			P78330	SERB_HUMAN	phosphoserine phosphatase	0					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAATGGATGTTATTCTTCCAG	0.373																																																	0			7											108.0	90.0	96.0					7																	56079456		2203	4300	6503	56046950	SO:0001819	synonymous_variant	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.677A>G	7.37:g.56079456T>C		Somatic		Capture	Illumina HiSeq	Phase_I	56046950	B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	CCDS5522.1																																																																																				PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
EIF4H	7458	hgsc.bcm.edu	37	7	73609165	73609165	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:73609165T>C	ENST00000265753.8	+	6	703	c.564T>C	c.(562-564)ccT>ccC	p.P188P	EIF4H_ENST00000353999.6_Silent_p.P168P	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	188					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GAGATGGCCCTCCCCTCCGTG	0.617																																																	0			7											42.0	47.0	46.0					7																	73609165		2203	4300	6503	73247101	SO:0001819	synonymous_variant	7458				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.564T>C	7.37:g.73609165T>C		Somatic		Capture	Illumina HiSeq	Phase_I	73247101	A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	CCDS5564.1																																																																																				EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170	
CROT	54677	hgsc.bcm.edu	37	7	87011450	87011450	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:87011450A>G	ENST00000331536.3	+	12	1308	c.1123A>G	c.(1123-1125)Aaa>Gaa	p.K375E	CROT_ENST00000442291.1_Missense_Mutation_p.K375E|CROT_ENST00000419147.2_Missense_Mutation_p.K403E	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	375					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.K375E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGTGGATGAGAAAGTTTTAAA	0.318																																																	1	Substitution - Missense(1)	ovary(1)	7											68.0	69.0	68.0					7																	87011450		2203	4298	6501	86849386	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1123A>G	7.37:g.87011450A>G	ENSP00000331981:p.Lys375Glu	Somatic		Capture	Illumina HiSeq	Phase_I	86849386	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	9.246	1.039426	0.19669	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88586	-2.4;-2.4;-2.4	5.3	5.3	0.74995	.	0.095061	0.64402	D	0.000001	T	0.80813	0.4695	N	0.25647	0.755	0.49130	D	0.999753	B;B	0.21452	0.056;0.028	B;B	0.23419	0.046;0.013	T	0.74618	-0.3605	10	0.02654	T	1	-27.0211	15.5342	0.75990	1.0:0.0:0.0:0.0	.	403;375	E7EQF2;Q9UKG9	.;OCTC_HUMAN	E	403;375;375	ENSP00000413575:K403E;ENSP00000331981:K375E;ENSP00000411983:K375E	ENSP00000331981:K375E	K	+	1	0	CROT	86849386	1.000000	0.71417	0.992000	0.48379	0.386000	0.30323	6.767000	0.74975	2.134000	0.65973	0.383000	0.25322	AAA		CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
SRI	6717	hgsc.bcm.edu	37	7	87838725	87838725	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:87838725C>T	ENST00000265729.2	-	6	492	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	SRI_ENST00000394641.3_Missense_Mutation_p.R132Q|SRI_ENST00000431660.1_Missense_Mutation_p.R132Q|SRI_ENST00000490437.1_Missense_Mutation_p.R104Q|SRI_ENST00000419179.1_Missense_Mutation_p.R107Q	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	147	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					GGTGCTGTATCGTTTTGCAAT	0.428																																																	0			7											183.0	153.0	163.0					7																	87838725		2203	4300	6503	87676661	SO:0001583	missense	6717			M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.440G>A	7.37:g.87838725C>T	ENSP00000265729:p.Arg147Gln	Somatic		Capture	Illumina HiSeq	Phase_I	87676661	A8MTH6|B4DKK2|D6W5Q0	Missense_Mutation	SNP	ENST00000265729.2	37	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	C	37	6.048351	0.97236	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	T;T;T;T;T	0.71461	-0.57;0.85;-0.57;-0.57;-0.57	5.87	5.87	0.94306	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.86431	0.5931	M	0.82193	2.58	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.996;1.0;1.0;1.0	D	0.87242	0.2267	10	0.87932	D	0	.	20.1861	0.98216	0.0:1.0:0.0:0.0	.	132;107;104;132;147	B4DKK2;B4DHQ6;C9J0K6;A8MTH6;P30626	.;.;.;.;SORCN_HUMAN	Q	147;107;104;132;132	ENSP00000265729:R147Q;ENSP00000397609:R107Q;ENSP00000418512:R104Q;ENSP00000378137:R132Q;ENSP00000391148:R132Q	ENSP00000265729:R147Q	R	-	2	0	SRI	87676661	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.729000	0.84864	2.774000	0.95407	0.655000	0.94253	CGA		SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130	
CDK14	5218	hgsc.bcm.edu	37	7	90492574	90492574	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:90492574T>C	ENST00000380050.3	+	6	760	c.629T>C	c.(628-630)tTt>tCt	p.F210S	CDK14_ENST00000406263.1_Missense_Mutation_p.F164S|CDK14_ENST00000436577.2_Missense_Mutation_p.F81S|CDK14_ENST00000265741.3_Missense_Mutation_p.F192S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACACTTGTGTTTGAATATGTG	0.303																																					GBM(83;1228 1256 8311 16577 31299)												0			7											76.0	72.0	73.0					7																	90492574		2203	4299	6502	90330510	SO:0001583	missense	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.629T>C	7.37:g.90492574T>C	ENSP00000369390:p.Phe210Ser	Somatic		Capture	Illumina HiSeq	Phase_I	90330510	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.419806	0.83559	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	M	0.86864	2.845	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.996	D	0.85421	0.1143	10	0.87932	D	0	-17.2422	15.3825	0.74669	0.0:0.0:0.0:1.0	.	81;192;210	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	S	210;192;164;81	ENSP00000369390:F210S;ENSP00000265741:F192S;ENSP00000385034:F164S;ENSP00000398936:F81S	ENSP00000265741:F192S	F	+	2	0	CDK14	90330510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.028000	0.59812	0.528000	0.53228	TTT		CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	
TRIM56	81844	hgsc.bcm.edu	37	7	100730765	100730765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:100730765G>T	ENST00000306085.6	+	3	469	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	58					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGCTGCCCCGAGTGCCGCGA	0.677																																					Ovarian(89;1092 1379 22756 38989 39611)												0			7											36.0	46.0	43.0					7																	100730765		2125	4232	6357	100517485	SO:0001587	stop_gained	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.172G>T	7.37:g.100730765G>T	ENSP00000305161:p.Glu58*	Somatic		Capture	Illumina HiSeq	Phase_I	100517485	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Nonsense_Mutation	SNP	ENST00000306085.6	37	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308744	0.60305	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	.	.	.	3.95	3.95	0.45737	.	0.000000	0.45361	D	0.000363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.7795	0.52006	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000305161:E58X	E	+	1	0	TRIM56	100517485	0.990000	0.36364	0.925000	0.36789	0.013000	0.08279	2.188000	0.42612	2.478000	0.83669	0.655000	0.94253	GAG		TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
LAMB4	22798	hgsc.bcm.edu	37	7	107704330	107704330	+	Silent	SNP	G	G	T	rs538631774		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:107704330G>T	ENST00000388781.3	-	22	3020	c.2937C>A	c.(2935-2937)acC>acA	p.T979T	LAMB4_ENST00000205386.4_Silent_p.T979T|LAMB4_ENST00000388780.3_Silent_p.T979T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	979	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.T979T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACTCTGGATCGGTTACATCTA	0.502																																																	1	Substitution - coding silent(1)	large_intestine(1)	7											173.0	161.0	165.0					7																	107704330		2203	4300	6503	107491566	SO:0001819	synonymous_variant	22798			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2937C>A	7.37:g.107704330G>T		Somatic		Capture	Illumina HiSeq	Phase_I	107491566	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	CCDS34732.1																																																																																				LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
RNF148	378925	hgsc.bcm.edu	37	7	122342385	122342385	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:122342385A>T	ENST00000434824.1	-	1	636	c.420T>A	c.(418-420)ttT>ttA	p.F140L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	140	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GAGACATGGGAAATACTTTAC	0.448																																																	0			7											280.0	272.0	274.0					7																	122342385		1988	4165	6153	122129621	SO:0001583	missense	378925			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.420T>A	7.37:g.122342385A>T	ENSP00000388207:p.Phe140Leu	Somatic		Capture	Illumina HiSeq	Phase_I	122129621	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.227346	0.39399	.	.	ENSG00000235631	ENST00000434824	T	0.07114	3.22	4.95	1.23	0.21249	Protease-associated domain, PA (1);	.	.	.	.	T	0.07728	0.0194	L	0.39633	1.23	0.80722	D	1	B	0.20780	0.048	B	0.29440	0.102	T	0.28004	-1.0057	9	0.25106	T	0.35	.	8.7197	0.34434	0.6907:0.0:0.3093:0.0	.	140	Q8N7C7	RN148_HUMAN	L	140	ENSP00000388207:F140L	ENSP00000388207:F140L	F	-	3	2	RNF148	122129621	0.997000	0.39634	0.998000	0.56505	0.959000	0.62525	0.811000	0.27198	0.030000	0.15379	0.454000	0.30748	TTT		RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
FSCN3	29999	hgsc.bcm.edu	37	7	127235526	127235526	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:127235526A>G	ENST00000265825.5	+	2	529	c.310A>G	c.(310-312)Aag>Gag	p.K104E	FSCN3_ENST00000420086.2_5'UTR|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	104						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CCGGAACAGCAAGTGGACCCT	0.557																																																	0			7											155.0	116.0	129.0					7																	127235526		2203	4300	6503	127022762	SO:0001583	missense	29999				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.310A>G	7.37:g.127235526A>G	ENSP00000265825:p.Lys104Glu	Somatic		Capture	Illumina HiSeq	Phase_I	127022762	A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602463	0.66445	.	.	ENSG00000106328	ENST00000265825	T	0.24723	1.84	5.59	4.42	0.53409	Fascin domain (1);Actin cross-linking (1);	0.087565	0.49916	D	0.000132	T	0.32255	0.0823	L	0.57536	1.79	0.80722	D	1	P	0.40000	0.698	P	0.45753	0.492	T	0.06463	-1.0825	10	0.66056	D	0.02	-42.6881	9.9401	0.41576	0.8289:0.1711:0.0:0.0	.	104	Q9NQT6	FSCN3_HUMAN	E	104	ENSP00000265825:K104E	ENSP00000265825:K104E	K	+	1	0	FSCN3	127022762	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	2.088000	0.41663	1.038000	0.40049	0.533000	0.62120	AAG		FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369	
TNPO3	23534	hgsc.bcm.edu	37	7	128655105	128655105	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:128655105T>C	ENST00000265388.5	-	4	623	c.480A>G	c.(478-480)cgA>cgG	p.R160R	TNPO3_ENST00000471166.1_Silent_p.R160R|TNPO3_ENST00000471234.1_Silent_p.R160R|TNPO3_ENST00000393245.1_Silent_p.R160R|TNPO3_ENST00000482320.1_Silent_p.R94R			Q9Y5L0	TNPO3_HUMAN	transportin 3	160					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TAGCTCCAATTCGTAAGGAAC	0.378																																					Pancreas(147;583 2585 39696 52331)												0			7											114.0	105.0	108.0					7																	128655105		2203	4300	6503	128442341	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.480A>G	7.37:g.128655105T>C		Somatic		Capture	Illumina HiSeq	Phase_I	128442341	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	CCDS5809.1																																																																																				TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470	
KMT2C	58508	hgsc.bcm.edu	37	7	151859570	151859570	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:151859570T>C	ENST00000262189.6	-	43	11310	c.11092A>G	c.(11092-11094)Acg>Gcg	p.T3698A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T3698A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3698			T -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T3698S(1)									TTTGCATACGTCTGTTGATTT	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)	7											243.0	245.0	244.0					7																	151859570		2203	4300	6503	151490503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11092A>G	7.37:g.151859570T>C	ENSP00000262189:p.Thr3698Ala	Somatic		Capture	Illumina HiSeq	Phase_I	151490503	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.498|8.498	0.863573|0.863573	0.17250|0.17250	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|D;D;D	.|0.87809	.|-1.59;-1.61;-2.3	5.51|5.51	-3.92|-3.92	0.04155|0.04155	.|.	.|0.507408	.|0.16272	.|U	.|0.221726	T|T	0.71592|0.71592	0.3358|0.3358	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.55598|0.55598	-0.8116|-0.8116	5|10	.|0.31617	.|T	.|0.26	.|.	0.9915|0.9915	0.01458|0.01458	0.3754:0.2125:0.0953:0.3168|0.3754:0.2125:0.0953:0.3168	.|.	.|3698;2759;3698	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	G|A	1203|3698;3698;284	.|ENSP00000262189:T3698A;ENSP00000347325:T3698A;ENSP00000410411:T284A	.|ENSP00000262189:T3698A	D|T	-|-	2|1	0|0	MLL3|MLL3	151490503|151490503	0.061000|0.061000	0.20836|0.20836	0.000000|0.000000	0.03702|0.03702	0.007000|0.007000	0.05969|0.05969	0.167000|0.167000	0.16602|0.16602	-0.451000|-0.451000	0.07097|0.07097	-1.437000|-1.437000	0.01076|0.01076	GAC|ACG		KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
ANGPT4	51378	hgsc.bcm.edu	37	20	858965	858965	+	Silent	SNP	G	G	A	rs112090528	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr20:858965G>A	ENST00000381922.3	-	7	1161	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ANGPT4_ENST00000546022.1_Silent_p.F353F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	353	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGGTCTCCGAAGCCCTATA	0.632																																					Pancreas(181;481 2077 3259 31286 49856)												0			20						G		3,4403	6.2+/-15.9	0,3,2200	30.0	29.0	29.0		1059	0.6	1.0	20	dbSNP_132	29	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ANGPT4	NM_015985.2		0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384		353/504	858965	5,13001	2203	4300	6503	806965	SO:0001819	synonymous_variant	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1059C>T	20.37:g.858965G>A		Somatic		Capture	Illumina HiSeq	Phase_I	806965	B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	CCDS13009.1																																																																																				ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
PAK7	57144	hgsc.bcm.edu	37	20	9546754	9546754	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr20:9546754T>C	ENST00000378429.3	-	6	1814	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R	PAK7_ENST00000353224.5_Missense_Mutation_p.Q423R|PAK7_ENST00000378423.1_Missense_Mutation_p.Q423R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	423	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTGGAGGGCTGCTGGTCGGA	0.622																																																	0			20											57.0	58.0	58.0					20																	9546754		2203	4300	6503	9494754	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1268A>G	20.37:g.9546754T>C	ENSP00000367686:p.Gln423Arg	Somatic		Capture	Illumina HiSeq	Phase_I	9494754	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527991	0.64860	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.72725	-0.68;-0.68;-0.68	5.66	4.55	0.56014	.	0.109437	0.64402	D	0.000004	T	0.66307	0.2776	M	0.62723	1.935	0.58432	D	0.999995	B;B	0.18610	0.029;0.029	B;B	0.13407	0.009;0.009	T	0.60239	-0.7302	9	.	.	.	.	12.9957	0.58646	0.0:0.0:0.1348:0.8651	.	423;423	B0AZM9;Q9P286	.;PAK7_HUMAN	R	423;423;423;371	ENSP00000367686:Q423R;ENSP00000322957:Q423R;ENSP00000367679:Q423R	.	Q	-	2	0	PAK7	9494754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.907000	0.63300	0.949000	0.37715	0.477000	0.44152	CAG		PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
SLC13A3	64849	hgsc.bcm.edu	37	20	45221138	45221138	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr20:45221138G>A	ENST00000279027.4	-	6	843	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SLC13A3_ENST00000396360.1_Silent_p.F228F|SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000290317.5_Silent_p.F228F|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Silent_p.F228F|SLC13A3_ENST00000472148.1_Silent_p.F228F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	275					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACCAGGAGCCGAAATTCACCA	0.562																																																	0			20											137.0	104.0	115.0					20																	45221138		2203	4300	6503	44654545	SO:0001819	synonymous_variant	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.825C>T	20.37:g.45221138G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44654545	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460264	0.26248	.	.	ENSG00000158296	ENST00000450298	.	.	.	5.69	-5.52	0.02560	.	.	.	.	.	T	0.65626	0.2709	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67906	-0.5549	4	.	.	.	-29.6292	16.999	0.86376	0.8746:0.0:0.1254:0.0	.	.	.	.	W	105	.	.	R	-	1	2	SLC13A3	44654545	0.906000	0.30813	0.772000	0.31596	0.987000	0.75469	0.087000	0.14958	-0.899000	0.03901	-0.812000	0.03155	CGG		SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
GNAS	2778	hgsc.bcm.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	T	rs121913495		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr20:57484421G>T	ENST00000371085.3	+	8	1026	c.602G>T	c.(601-603)cGt>cTt	p.R201L	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844L|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187L|GNAS_ENST00000265620.7_Missense_Mutation_p.R186L|GNAS_ENST00000306090.10_Missense_Mutation_p.R187L|GNAS_ENST00000371102.4_Missense_Mutation_p.R830L|GNAS_ENST00000354359.7_Missense_Mutation_p.R202L|GNAS_ENST00000371075.3_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	20											80.0	78.0	79.0					20																	57484421		2203	4300	6503	56917816	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>T	20.37:g.57484421G>T	ENSP00000360126:p.Arg201Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56917816	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392054	0.95988	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.97;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.99;0.983;0.95;0.999	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	L	844;830;187;201;202;186;187	ENSP00000360141:R844L;ENSP00000360143:R830L;ENSP00000360136:R187L;ENSP00000360126:R201L;ENSP00000346328:R202L;ENSP00000265620:R186L;ENSP00000304472:R187L	ENSP00000265620:R186L	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516	
TAF4	6874	hgsc.bcm.edu	37	20	60589624	60589624	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr20:60589624G>A	ENST00000252996.4	-	2	1499	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	500					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGATCTGGACGGGAGGGGCAC	0.667																																																	0			20											49.0	43.0	45.0					20																	60589624		2203	4299	6502	60023019	SO:0001819	synonymous_variant	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1500C>T	20.37:g.60589624G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60023019	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	CCDS33500.1																																																																																				TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
EP300	2033	hgsc.bcm.edu	37	22	41569718	41569718	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr22:41569718A>G	ENST00000263253.7	+	29	5928	c.4709A>G	c.(4708-4710)aAa>aGa	p.K1570R	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1570	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AACAAGAAGAAACCCGGGATG	0.448			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22											153.0	161.0	158.0					22																	41569718		2203	4300	6503	39899664	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4709A>G	22.37:g.41569718A>G	ENSP00000263253:p.Lys1570Arg	Somatic		Capture	Illumina HiSeq	Phase_I	39899664	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341006	0.81911	.	.	ENSG00000100393	ENST00000263253	D	0.93659	-3.26	5.52	5.52	0.82312	.	0.000000	0.48767	D	0.000171	D	0.96713	0.8927	M	0.83692	2.655	0.46131	D	0.998889	D	0.76494	0.999	D	0.83275	0.996	D	0.96837	0.9615	10	0.51188	T	0.08	-13.6072	15.643	0.77020	1.0:0.0:0.0:0.0	.	1570	Q09472	EP300_HUMAN	R	1570	ENSP00000263253:K1570R	ENSP00000263253:K1570R	K	+	2	0	EP300	39899664	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.237000	0.95368	2.094000	0.63399	0.533000	0.62120	AAA		EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
SREBF2	6721	hgsc.bcm.edu	37	22	42293161	42293161	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr22:42293161C>T	ENST00000361204.4	+	14	2767	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	867					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAAGTCCGCCCTGGGTAAGC	0.567																																																	0			22											35.0	35.0	35.0					22																	42293161		2203	4300	6503	40623107	SO:0001819	synonymous_variant	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2601C>T	22.37:g.42293161C>T		Somatic		Capture	Illumina HiSeq	Phase_I	40623107	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																				SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
SMC1B	27127	hgsc.bcm.edu	37	22	45767392	45767392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr22:45767392G>A	ENST00000357450.4	-	14	2271	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R758*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	758			R -> Q (in dbSNP:rs9614653).		meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTTCGTTGTCGTTCCTTGATT	0.284																																																	0			22											102.0	92.0	95.0					22																	45767392		1814	4070	5884	44146056	SO:0001587	stop_gained	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2272C>T	22.37:g.45767392G>A	ENSP00000350036:p.Arg758*	Somatic		Capture	Illumina HiSeq	Phase_I	44146056	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Nonsense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	35	5.427948	0.96131	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.66	3.5	0.40072	.	0.228496	0.29995	N	0.010671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	6.2413	0.20793	0.0962:0.0:0.6123:0.2915	.	.	.	.	X	758	.	ENSP00000350036:R758X	R	-	1	2	SMC1B	44146056	0.960000	0.32886	0.966000	0.40874	0.311000	0.27955	2.622000	0.46427	1.394000	0.46624	0.655000	0.94253	CGA		SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
SLC25A21	89874	hgsc.bcm.edu	37	14	37154057	37154057	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:37154057A>G	ENST00000331299.5	-	8	1192	c.677T>C	c.(676-678)aTc>aCc	p.I226T	SLC25A21_ENST00000555449.1_Missense_Mutation_p.I226T	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	226					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATCAAAAGGGATGTTAATGAC	0.393																																																	0			14											138.0	132.0	134.0					14																	37154057		2203	4300	6503	36223808	SO:0001583	missense	89874			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.677T>C	14.37:g.37154057A>G	ENSP00000329452:p.Ile226Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36223808	A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	ENST00000331299.5	37	CCDS9663.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.356141	0.61293	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.76839	-1.05;-1.05	5.67	5.67	0.87782	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	N	0.16201	0.385	0.80722	D	1	P	0.50943	0.94	P	0.58391	0.838	T	0.68519	-0.5387	10	0.02654	T	1	-12.3715	16.1842	0.81939	1.0:0.0:0.0:0.0	.	226	Q9BQT8	ODC_HUMAN	T	226	ENSP00000451873:I226T;ENSP00000329452:I226T	ENSP00000329452:I226T	I	-	2	0	SLC25A21	36223808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.850000	0.92190	2.283000	0.76528	0.533000	0.62120	ATC		SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	
NID2	22795	hgsc.bcm.edu	37	14	52509009	52509009	+	Missense_Mutation	SNP	C	C	T	rs149213118	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:52509009C>T	ENST00000216286.5	-	7	1638	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	NID2_ENST00000541773.1_Missense_Mutation_p.V494M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	547	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTGAAGTGCACGGGTGTATGG	0.577																																																	0			14						C	MET/VAL	0,4406		0,0,2203	138.0	140.0	140.0		1639	5.3	0.9	14	dbSNP_134	140	3,8597	3.0+/-9.4	0,3,4297	no	missense	NID2	NM_007361.3	21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	547/1376	52509009	3,13003	2203	4300	6503	51578759	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1639G>A	14.37:g.52509009C>T	ENSP00000216286:p.Val547Met	Somatic		Capture	Illumina HiSeq	Phase_I	51578759	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225977	0.58668	0.0	3.49E-4	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.35973	1.28;1.28	6.17	5.29	0.74685	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.052456	0.85682	N	0.000000	T	0.63721	0.2535	M	0.84326	2.69	0.44409	D	0.997322	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;0.999	T	0.69903	-0.5019	10	0.72032	D	0.01	.	14.9824	0.71321	0.0:0.9317:0.0:0.0683	.	141;494;549;547	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	M	547;141;494;549	ENSP00000216286:V547M;ENSP00000443730:V494M	ENSP00000216286:V547M	V	-	1	0	NID2	51578759	1.000000	0.71417	0.909000	0.35828	0.007000	0.05969	4.641000	0.61375	1.620000	0.50308	0.655000	0.94253	GTG		NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
ZBTB1	22890	hgsc.bcm.edu	37	14	64989449	64989449	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:64989449C>G	ENST00000554015.1	+	4	1658	c.1227C>G	c.(1225-1227)aaC>aaG	p.N409K	ZBTB1_ENST00000394712.2_Missense_Mutation_p.N409K|ZBTB1_ENST00000358738.3_Missense_Mutation_p.N409K|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	409					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGCCCCCTAACAACAGCAGTC	0.423																																																	0			14											56.0	55.0	55.0					14																	64989449		2203	4300	6503	64059202	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1227C>G	14.37:g.64989449C>G	ENSP00000451000:p.Asn409Lys	Somatic		Capture	Illumina HiSeq	Phase_I	64059202	A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741754	0.15642	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.09163	3.01;3.6;3.01	5.91	4.02	0.46733	.	0.249755	0.34828	N	0.003647	T	0.06826	0.0174	N	0.24115	0.695	0.35662	D	0.812638	B;B	0.15473	0.013;0.008	B;B	0.16289	0.015;0.007	T	0.18178	-1.0345	10	0.06236	T	0.91	-15.3631	12.3647	0.55222	0.0:0.8578:0.0:0.1422	.	409;409	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	K	409	ENSP00000451000:N409K;ENSP00000351587:N409K;ENSP00000378201:N409K	ENSP00000351587:N409K	N	+	3	2	ZBTB1	64059202	0.663000	0.27448	0.951000	0.38953	0.983000	0.72400	1.243000	0.32767	0.760000	0.33108	0.655000	0.94253	AAC		ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1		
GPATCH2L	55668	hgsc.bcm.edu	37	14	76644340	76644340	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:76644340A>G	ENST00000261530.7	+	7	1128	c.1062A>G	c.(1060-1062)aaA>aaG	p.K354K	GPATCH2L_ENST00000312858.5_Intron|GPATCH2L_ENST00000553588.1_5'Flank	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	354								p.K354N(1)									GAAAGAATAAAGCGTTGGCTT	0.348																																																	1	Substitution - Missense(1)	ovary(1)	14											173.0	181.0	178.0					14																	76644340		2203	4300	6503	75714093	SO:0001819	synonymous_variant	55668			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1062A>G	14.37:g.76644340A>G		Somatic		Capture	Illumina HiSeq	Phase_I	75714093	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	37	CCDS9848.1																																																																																				GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
MOK	5891	hgsc.bcm.edu	37	14	102698923	102698923	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:102698923T>C	ENST00000361847.2	-	9	1046	c.815A>G	c.(814-816)gAg>gGg	p.E272G	MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Missense_Mutation_p.E38G|MOK_ENST00000517966.1_Missense_Mutation_p.R5G|MOK_ENST00000524370.1_Missense_Mutation_p.R5G|MOK_ENST00000522867.1_Missense_Mutation_p.R5G|MOK_ENST00000522874.1_Missense_Mutation_p.E271G|MOK_ENST00000522534.1_Missense_Mutation_p.R5G|MOK_ENST00000519058.1_Missense_Mutation_p.R5G|MOK_ENST00000561150.1_Missense_Mutation_p.R5G|MOK_ENST00000524214.1_Missense_Mutation_p.E242G|MOK_ENST00000523231.1_Missense_Mutation_p.R5G	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> D (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										GGCGATTCTCTCATCGGGATC	0.542																																																	0			14											149.0	151.0	150.0					14																	102698923		2203	4300	6503	101768676	SO:0001583	missense	5891			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.815A>G	14.37:g.102698923T>C	ENSP00000355304:p.Glu272Gly	Somatic		Capture	Illumina HiSeq	Phase_I	101768676	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	CCDS9971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.65|12.65	2.002688|2.002688	0.35320|0.35320	.|.	.|.	ENSG00000080823|ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214|ENST00000519058	T;T;T;T|.	0.67345|.	0.87;-0.26;-0.26;-0.26|.	5.5|5.5	3.12|3.12	0.35913|0.35913	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.308209|.	0.34178|.	N|.	0.004183|.	T|T	0.62270|0.62270	0.2414|0.2414	M|M	0.67625|0.67625	2.065|2.065	0.42157|0.42157	D|D	0.991586|0.991586	B;B|.	0.28026|.	0.198;0.122|.	B;B|.	0.31337|.	0.128;0.128|.	T|T	0.57590|0.57590	-0.7785|-0.7785	10|5	0.87932|.	D|.	0|.	-1.6855|-1.6855	8.632|8.632	0.33926|0.33926	0.1279:0.0:0.1342:0.7379|0.1279:0.0:0.1342:0.7379	.|.	242;272|.	E7ERR8;Q9UQ07|.	.;MOK_HUMAN|.	G|G	38;271;272;242|5	ENSP00000193029:E38G;ENSP00000429469:E271G;ENSP00000355304:E272G;ENSP00000428942:E242G|.	ENSP00000193029:E38G|.	E|R	-|-	2|1	0|2	RAGE|RAGE	101768676|101768676	1.000000|1.000000	0.71417|0.71417	0.045000|0.045000	0.18777|0.18777	0.943000|0.943000	0.58893|0.58893	4.530000|4.530000	0.60595|0.60595	0.379000|0.379000	0.24794|0.24794	0.379000|0.379000	0.24179|0.24179	GAG|AGA		MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3		
CKB	1152	hgsc.bcm.edu	37	14	103988688	103988688	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:103988688G>C	ENST00000348956.2	-	2	500	c.143C>G	c.(142-144)cCg>cGg	p.P48R	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	48	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GAAGCCGCTCGGCGTGCTCTT	0.726																																					Esophageal Squamous(186;2492 2823 49929 50127)												0			14											51.0	49.0	49.0					14																	103988688		2202	4299	6501	103058441	SO:0001583	missense	1152				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.143C>G	14.37:g.103988688G>C	ENSP00000299198:p.Pro48Arg	Somatic		Capture	Illumina HiSeq	Phase_I	103058441	A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	G	33	5.204135	0.95033	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878;ENST00000557530	T;T;T	0.64618	-0.11;-0.11;-0.11	4.24	4.24	0.50183	ATP:guanido phosphotransferase, N-terminal (4);	0.058300	0.64402	D	0.000001	T	0.81912	0.4923	M	0.91249	3.19	0.80722	D	1	D	0.61080	0.989	P	0.62649	0.905	D	0.87273	0.2287	10	0.87932	D	0	0.0112	16.853	0.85999	0.0:0.0:1.0:0.0	.	48	P12277	KCRB_HUMAN	R	48;48;48;19	ENSP00000299198:P48R;ENSP00000451904:P48R;ENSP00000451611:P19R	ENSP00000299198:P48R	P	-	2	0	CKB	103058441	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.053000	0.93860	2.203000	0.70933	0.306000	0.20318	CCG		CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1		
SLC1A6	6511	hgsc.bcm.edu	37	19	15067369	15067369	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr19:15067369A>T	ENST00000221742.3	-	6	1095	c.1088T>A	c.(1087-1089)tTc>tAc	p.F363Y	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.F299Y	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	363					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AGTGACGAGGAAGTAGATGAG	0.607																																																	0			19											180.0	141.0	154.0					19																	15067369		2203	4300	6503	14928369	SO:0001583	missense	6511				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1088T>A	19.37:g.15067369A>T	ENSP00000221742:p.Phe363Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	14928369	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	a	17.81	3.481251	0.63849	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.62941	-0.01;0.25	3.96	3.96	0.45880	.	0.159067	0.64402	D	0.000020	T	0.69672	0.3137	L	0.54863	1.705	0.80722	D	1	P;B	0.48589	0.912;0.402	P;B	0.59012	0.85;0.213	T	0.71517	-0.4569	10	0.56958	D	0.05	-16.2113	11.1006	0.48172	1.0:0.0:0.0:0.0	.	299;363	E7EV13;P48664	.;EAA4_HUMAN	Y	299;363	ENSP00000409386:F299Y;ENSP00000221742:F363Y	ENSP00000221742:F363Y	F	-	2	0	SLC1A6	14928369	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.907000	0.92634	1.805000	0.52779	0.482000	0.46254	TTC		SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
ZNF675	171392	hgsc.bcm.edu	37	19	23837045	23837045	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr19:23837045A>G	ENST00000359788.4	-	4	858	c.690T>C	c.(688-690)tgT>tgC	p.C230C	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CACATTCTTGACATTTGTAGA	0.308																																																	0			19											50.0	53.0	52.0					19																	23837045		2201	4296	6497	23628885	SO:0001819	synonymous_variant	171392				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.690T>C	19.37:g.23837045A>G		Somatic		Capture	Illumina HiSeq	Phase_I	23628885	Q8N211	Silent	SNP	ENST00000359788.4	37	CCDS32981.1																																																																																				ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
LRFN1	57622	hgsc.bcm.edu	37	19	39805292	39805292	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr19:39805292C>T	ENST00000248668.4	-	1	684	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	229						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGGAAGAGCCCGTCGGGCGGG	0.662																																																	0			19											23.0	28.0	26.0					19																	39805292		2113	4238	6351	44497132	SO:0001583	missense	57622			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.685G>A	19.37:g.39805292C>T	ENSP00000248668:p.Gly229Arg	Somatic		Capture	Illumina HiSeq	Phase_I	44497132	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008429	0.35415	.	.	ENSG00000128011	ENST00000248668	T	0.55234	0.53	4.3	4.3	0.51218	.	0.000000	0.42172	D	0.000751	T	0.28665	0.0710	N	0.08118	0	0.31115	N	0.709509	D	0.53619	0.961	B	0.40134	0.32	T	0.33650	-0.9860	10	0.59425	D	0.04	.	7.9909	0.30239	0.0:0.8896:0.0:0.1104	.	229	Q9P244	LRFN1_HUMAN	R	229	ENSP00000248668:G229R	ENSP00000248668:G229R	G	-	1	0	LRFN1	44497132	0.009000	0.17119	0.952000	0.39060	0.777000	0.43975	1.629000	0.37071	2.234000	0.73211	0.491000	0.48974	GGG		LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862	
LIG1	3978	hgsc.bcm.edu	37	19	48657140	48657140	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr19:48657140T>C	ENST00000263274.7	-	6	874	c.455A>G	c.(454-456)aAg>aGg	p.K152R	LIG1_ENST00000599165.1_Intron|LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.K122R	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|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)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ttcctcctccttcttcctctt	0.577								Nucleotide excision repair (NER)																																									0			19											196.0	113.0	141.0					19																	48657140		2203	4300	6503	53348952	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.455A>G	19.37:g.48657140T>C	ENSP00000263274:p.Lys152Arg	Somatic		Capture	Illumina HiSeq	Phase_I	53348952	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.386	0.439422	0.12104	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	2.94	0.34122	.	0.866238	0.10215	N	0.701604	T	0.48714	0.1515	L	0.54323	1.7	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.28839	-1.0031	10	0.18710	T	0.47	-18.4584	7.3918	0.26913	0.0:0.0:0.2229:0.7771	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	R	152;184;122	ENSP00000263274:K152R;ENSP00000442841:K122R	ENSP00000263274:K152R	K	-	2	0	LIG1	53348952	0.292000	0.24362	0.892000	0.35008	0.244000	0.25665	1.067000	0.30616	0.837000	0.34925	0.496000	0.49642	AAG		LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
NKX2-6	137814	hgsc.bcm.edu	37	8	23560084	23560084	+	Silent	SNP	G	G	A	rs61749320	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:23560084G>A	ENST00000325017.3	-	2	785	c.786C>T	c.(784-786)ggC>ggT	p.G262G	NKX2-6_ENST00000418222.1_Silent_p.G180G	NM_001136271.2	NP_001129743.2	A6NCS4	NKX26_HUMAN	NK2 homeobox 6	262					atrial cardiac muscle cell development (GO:0055014)|cell differentiation (GO:0030154)|digestive tract development (GO:0048565)|embryonic heart tube development (GO:0035050)|hypothalamus development (GO:0021854)|negative regulation of apoptotic process (GO:0043066)|pericardium development (GO:0060039)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCGAGGGCGCGCCCGCGTAGC	0.701																																																	0			8											11.0	18.0	16.0					8																	23560084		688	1590	2278	23616029	SO:0001819	synonymous_variant	137814			CN272646		8p21.2	2012-03-09	2011-06-01			ENSG00000180053		"""Homeoboxes / ANTP class : NKL subclass"""	32940	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	611770	"""NK2 transcription factor related, locus 6 (Drosophila)"""			15649947	Standard	NM_001136271		Approved	CSX2, NKX4-2	uc011kzy.3	A6NCS4		ENST00000325017.3:c.786C>T	8.37:g.23560084G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23616029		Silent	SNP	ENST00000325017.3	37																																																																																					NKX2-6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376057.4	NM_001136271	
HOOK3	84376	hgsc.bcm.edu	37	8	42814397	42814397	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:42814397A>G	ENST00000307602.4	+	8	755	c.555A>G	c.(553-555)ctA>ctG	p.L185L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	185					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.L185L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAGAGGAACTAAATGAAGCTT	0.343			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - coding silent(1)	ovary(1)	8											106.0	106.0	106.0					8																	42814397		2203	4300	6503	42933554	SO:0001819	synonymous_variant	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.555A>G	8.37:g.42814397A>G		Somatic		Capture	Illumina HiSeq	Phase_I	42933554	D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	37	CCDS6139.1																																																																																				HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
RB1CC1	9821	hgsc.bcm.edu	37	8	53570340	53570340	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:53570340T>C	ENST00000025008.5	-	15	2572	c.2049A>G	c.(2047-2049)gcA>gcG	p.A683A	RB1CC1_ENST00000539297.1_Silent_p.A683A|RB1CC1_ENST00000435644.2_Silent_p.A683A|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	683					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AGGGACAAACTGCAGGACATA	0.423																																					GBM(180;1701 2102 13475 42023 52570)												0			8											98.0	99.0	99.0					8																	53570340		2203	4300	6503	53732893	SO:0001819	synonymous_variant	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2049A>G	8.37:g.53570340T>C		Somatic		Capture	Illumina HiSeq	Phase_I	53732893	Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	CCDS34892.1																																																																																				RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
ASPH	444	hgsc.bcm.edu	37	8	62430095	62430095	+	Silent	SNP	G	G	A	rs554349058		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:62430095G>A	ENST00000379454.4	-	24	2305	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N	ASPH_ENST00000541428.1_Silent_p.N677N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	706					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACTTGGTCTCGTTGGCACATC	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20083	0.0		0.0	False		,,,				2504	0.0																0			8											174.0	124.0	141.0					8																	62430095		2203	4300	6503	62592649	SO:0001819	synonymous_variant	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2118C>T	8.37:g.62430095G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62592649	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	ENST00000379454.4	37	CCDS34898.1																																																																																				ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318	
PLEKHF2	79666	hgsc.bcm.edu	37	8	96166992	96166992	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:96166992T>C	ENST00000315367.3	+	2	961	c.720T>C	c.(718-720)gaT>gaC	p.D240D	PLEKHF2_ENST00000519516.1_Silent_p.D240D	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	240					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					ATATGTCTGATGATGATGACG	0.438																																																	0			8											77.0	74.0	75.0					8																	96166992		2203	4300	6503	96236168	SO:0001819	synonymous_variant	79666			AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.720T>C	8.37:g.96166992T>C		Somatic		Capture	Illumina HiSeq	Phase_I	96236168		Silent	SNP	ENST00000315367.3	37	CCDS6267.1																																																																																				PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613	
EIF3E	3646	hgsc.bcm.edu	37	8	109240604	109240604	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:109240604A>G	ENST00000220849.5	-	7	676	c.614T>C	c.(613-615)cTt>cCt	p.L205P	RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519030.1_Missense_Mutation_p.L112P|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E									p.L205H(1)	EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGAGACTGAAGTGGAGAACT	0.348																																					GBM(15;360 410 8460 34179 52246)												1	Substitution - Missense(1)	ovary(1)	8											74.0	74.0	74.0					8																	109240604		2203	4300	6503	109309780	SO:0001583	missense	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.614T>C	8.37:g.109240604A>G	ENSP00000220849:p.Leu205Pro	Somatic		Capture	Illumina HiSeq	Phase_I	109309780		Missense_Mutation	SNP	ENST00000220849.5	37	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.403034	0.83230	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.50277	0.75;0.75;0.75	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	T	0.79902	-0.1607	10	0.87932	D	0	-11.5618	15.9153	0.79512	1.0:0.0:0.0:0.0	.	205;205	B2R806;P60228	.;EIF3E_HUMAN	P	205;112;78	ENSP00000220849:L205P;ENSP00000428796:L112P;ENSP00000430839:L78P	ENSP00000220849:L205P	L	-	2	0	EIF3E	109309780	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.287000	0.95975	2.213000	0.71641	0.477000	0.44152	CTT		EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568	
MFN2	9927	hgsc.bcm.edu	37	1	12065963	12065963	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:12065963G>A	ENST00000235329.5	+	15	2013	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	MFN2_ENST00000444836.1_Missense_Mutation_p.R564Q	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	564					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AACAGCCGTCGGGCCTTGATG	0.552																																																	0			1											97.0	94.0	95.0					1																	12065963		2203	4300	6503	11988550	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1691G>A	1.37:g.12065963G>A	ENSP00000235329:p.Arg564Gln	Somatic		Capture	Illumina HiSeq	Phase_I	11988550	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958166	0.92726	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	T;T	0.69435	-0.4;-0.4	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	L	0.60455	1.87	0.80722	D	1	P	0.52463	0.953	P	0.47786	0.557	T	0.64356	-0.6427	10	0.18710	T	0.47	-31.8458	17.3618	0.87353	0.0:0.0:1.0:0.0	.	564	O95140	MFN2_HUMAN	Q	564;564;262	ENSP00000416338:R564Q;ENSP00000235329:R564Q	ENSP00000235329:R564Q	R	+	2	0	MFN2	11988550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.166000	0.94766	2.656000	0.90262	0.561000	0.74099	CGG		MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	
USP48	84196	hgsc.bcm.edu	37	1	22021624	22021624	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:22021624T>C	ENST00000308271.9	-	23	3466	c.2818A>G	c.(2818-2820)Aaa>Gaa	p.K940E	USP48_ENST00000400301.1_Intron|USP48_ENST00000529637.1_Missense_Mutation_p.K952E|USP48_ENST00000374732.3_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	940	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCACGAACTTTTCTATGTCGC	0.378																																																	0			1											162.0	154.0	157.0					1																	22021624		2203	4299	6502	21894211	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2818A>G	1.37:g.22021624T>C	ENSP00000309262:p.Lys940Glu	Somatic		Capture	Illumina HiSeq	Phase_I	21894211	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146896	0.77888	.	.	ENSG00000090686	ENST00000308271;ENST00000529637	T;T	0.05996	3.36;3.37	5.95	5.95	0.96441	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	M	0.62723	1.935	0.80722	D	1	D;B;D;P	0.67145	0.993;0.204;0.996;0.9	D;B;D;B	0.76071	0.953;0.075;0.987;0.344	T	0.00184	-1.1944	10	0.42905	T	0.14	.	15.2477	0.73517	0.0:0.0:0.0:1.0	.	952;940;65;940	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5	.;.;.;UBP48_HUMAN	E	940;952	ENSP00000309262:K940E;ENSP00000431949:K952E	ENSP00000309262:K940E	K	-	1	0	USP48	21894211	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.734000	0.74801	2.279000	0.76181	0.533000	0.62120	AAA		USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
KHDRBS1	10657	hgsc.bcm.edu	37	1	32504197	32504197	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:32504197A>G	ENST00000327300.7	+	7	1319	c.1152A>G	c.(1150-1152)gaA>gaG	p.E384E	KHDRBS1_ENST00000492989.1_Silent_p.E345E|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAGGCTACGAAGGCTATTACA	0.403																																					Ovarian(173;401 1982 12359 31110 42403)												0			1											132.0	116.0	122.0					1																	32504197		2203	4300	6503	32276784	SO:0001819	synonymous_variant	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1152A>G	1.37:g.32504197A>G		Somatic		Capture	Illumina HiSeq	Phase_I	32276784		Silent	SNP	ENST00000327300.7	37	CCDS350.1																																																																																				KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559	
DMAP1	55929	hgsc.bcm.edu	37	1	44684098	44684098	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:44684098G>A	ENST00000372289.2	+	4	772	c.509G>A	c.(508-510)cGt>cAt	p.R170H	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.R170H|DMAP1_ENST00000361745.6_Missense_Mutation_p.R170H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	170	SANT.				chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TTTGACCTGCGTTTTGTTGTT	0.522											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			1											166.0	138.0	147.0					1																	44684098		2203	4300	6503	44456685	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.509G>A	1.37:g.44684098G>A	ENSP00000361363:p.Arg170His	Somatic	925	Capture	Illumina HiSeq	Phase_I	44456685	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429903	0.96131	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	.	.	.	5.26	5.26	0.73747	SANT domain, DNA binding (1);	0.050298	0.85682	D	0.000000	D	0.83635	0.5297	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.85183	0.1005	9	0.62326	D	0.03	-12.9847	19.0611	0.93093	0.0:0.0:1.0:0.0	.	160;170	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	H	170;170;196;170;196;170;170;131	.	ENSP00000312697:R170H	R	+	2	0	DMAP1	44456685	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.735000	0.93741	0.655000	0.94253	CGT		DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100	
IL12RB2	3595	hgsc.bcm.edu	37	1	67795363	67795363	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:67795363T>C	ENST00000262345.1	+	6	1398	c.758T>C	c.(757-759)cTg>cCg	p.L253P	IL12RB2_ENST00000544434.1_Missense_Mutation_p.L253P|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L253P|IL12RB2_ENST00000371000.1_Missense_Mutation_p.L253P	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGACTGGTACTGCTTAATCGA	0.418																																																	0			1											141.0	134.0	136.0					1																	67795363		2203	4300	6503	67567951	SO:0001583	missense	3595			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.758T>C	1.37:g.67795363T>C	ENSP00000262345:p.Leu253Pro	Somatic		Capture	Illumina HiSeq	Phase_I	67567951	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343756	0.41498	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.2	3.99	0.46301	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.301510	0.04683	N	0.412781	T	0.57460	0.2055	L	0.45228	1.405	0.51233	D	0.999914	D;D;D;D	0.71674	0.966;0.998;0.98;0.976	P;P;P;P	0.62560	0.641;0.904;0.731;0.454	T	0.55010	-0.8207	10	0.62326	D	0.03	-3.8341	8.6662	0.34123	0.0:0.0:0.1928:0.8072	.	253;253;253;253	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	P	253	ENSP00000262345:L253P;ENSP00000360039:L253P;ENSP00000445276:L253P;ENSP00000442443:L253P	ENSP00000262345:L253P	L	+	2	0	IL12RB2	67567951	0.014000	0.17966	0.902000	0.35471	0.361000	0.29550	0.722000	0.25925	2.093000	0.63338	0.459000	0.35465	CTG		IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
AK5	26289	hgsc.bcm.edu	37	1	77876727	77876727	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:77876727A>T	ENST00000354567.2	+	7	1216	c.953A>T	c.(952-954)aAg>aTg	p.K318M	AK5_ENST00000344720.5_Missense_Mutation_p.K292M	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	318					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTTGACAACAAGTTATTTCCA	0.463																																																	0			1											136.0	110.0	119.0					1																	77876727		2203	4300	6503	77649315	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.953A>T	1.37:g.77876727A>T	ENSP00000346577:p.Lys318Met	Somatic		Capture	Illumina HiSeq	Phase_I	77649315	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.882271	0.72294	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.72505	-0.64;-0.66	4.92	4.92	0.64577	.	0.120286	0.56097	D	0.000039	T	0.67211	0.2869	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.67635	-0.5620	10	0.33940	T	0.23	-4.9288	13.9557	0.64147	1.0:0.0:0.0:0.0	.	318	Q9Y6K8	KAD5_HUMAN	M	318;292	ENSP00000346577:K318M;ENSP00000341430:K292M	ENSP00000341430:K292M	K	+	2	0	AK5	77649315	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.618000	0.61211	2.199000	0.70637	0.533000	0.62120	AAG		AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
SORT1	6272	hgsc.bcm.edu	37	1	109897063	109897063	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:109897063G>A	ENST00000256637.6	-	5	692	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	SORT1_ENST00000538502.1_Missense_Mutation_p.L76F|SORT1_ENST00000482236.1_5'Flank	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	212					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAAAAGGGAGATCTGTTTGC	0.418																																																	0			1											153.0	146.0	148.0					1																	109897063		2203	4300	6503	109698586	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.634C>T	1.37:g.109897063G>A	ENSP00000256637:p.Leu212Phe	Somatic		Capture	Illumina HiSeq	Phase_I	109698586	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411288	0.83340	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.39997	1.05;1.05	5.11	5.11	0.69529	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.69823	2.125	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.81914	0.982;0.995	T	0.61013	-0.7148	10	0.59425	D	0.04	-13.6701	17.6652	0.88201	0.0:0.0:1.0:0.0	.	76;212	B4DWI3;Q99523	.;SORT_HUMAN	F	212;76	ENSP00000256637:L212F;ENSP00000438597:L76F	ENSP00000256637:L212F	L	-	1	0	SORT1	109698586	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.952000	0.63618	2.515000	0.84797	0.655000	0.94253	CTC		SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959	
SMG7	9887	hgsc.bcm.edu	37	1	183502837	183502837	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:183502837T>C	ENST00000347615.2	+	10	1152	c.1033T>C	c.(1033-1035)Tgt>Cgt	p.C345R	SMG7_ENST00000507469.1_Missense_Mutation_p.C345R|SMG7_ENST00000456731.2_Missense_Mutation_p.C303R|SMG7_ENST00000508461.1_Missense_Mutation_p.C303R|SMG7_ENST00000367537.3_Missense_Mutation_p.C374R|SMG7_ENST00000515829.2_Missense_Mutation_p.C345R	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	345					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCTGTGCAAGTGTCCTCTACA	0.413																																																	0			1											77.0	79.0	78.0					1																	183502837		2203	4300	6503	181769460	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1033T>C	1.37:g.183502837T>C	ENSP00000340766:p.Cys345Arg	Somatic		Capture	Illumina HiSeq	Phase_I	181769460	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849936	0.32699	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.6	5.6	0.85130	.	0.179903	0.53938	D	0.000044	T	0.16599	0.0399	N	0.17345	0.48	0.80722	D	1	B;B;B;B;B;B	0.13145	0.002;0.002;0.001;0.001;0.002;0.007	B;B;B;B;B;B	0.13407	0.009;0.006;0.003;0.003;0.004;0.008	T	0.08659	-1.0711	10	0.11485	T	0.65	-0.1554	15.7929	0.78380	0.0:0.0:0.0:1.0	.	303;374;303;345;345;345	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	R	303;374;303;303;345;345;345	ENSP00000407629:C303R;ENSP00000356507:C374R;ENSP00000426915:C303R;ENSP00000388390:C303R;ENSP00000340766:C345R;ENSP00000425133:C345R;ENSP00000421358:C345R	ENSP00000340766:C345R	C	+	1	0	SMG7	181769460	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.524000	0.60552	2.123000	0.65237	0.533000	0.62120	TGT		SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
CDC73	79577	hgsc.bcm.edu	37	1	193094254	193094254	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:193094254A>G	ENST00000367435.3	+	2	328	c.144A>G	c.(142-144)gaA>gaG	p.E48E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	48					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CTGGAAAGGAAGGCCAACCCA	0.363																																																	0			1											132.0	130.0	130.0					1																	193094254		2203	4300	6503	191360877	SO:0001819	synonymous_variant	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.144A>G	1.37:g.193094254A>G		Somatic		Capture	Illumina HiSeq	Phase_I	191360877	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP	ENST00000367435.3	37	CCDS1382.1																																																																																				CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
ASPM	259266	hgsc.bcm.edu	37	1	197111702	197111702	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:197111702G>A	ENST00000367409.4	-	3	1936	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N	ASPM_ENST00000294732.7_Silent_p.N560N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	560					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGTTACCTCGTTTTTATAAC	0.323																																																	0			1											99.0	106.0	104.0					1																	197111702		2203	4300	6503	195378325	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1680C>T	1.37:g.197111702G>A		Somatic		Capture	Illumina HiSeq	Phase_I	195378325	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
CR1	1378	hgsc.bcm.edu	37	1	207790003	207790003	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:207790003A>G	ENST00000367049.4	+	41	6745	c.6745A>G	c.(6745-6747)Ata>Gta	p.I2249V	CR1_ENST00000367052.1_Missense_Mutation_p.I1799V|CR1_ENST00000400960.2_Missense_Mutation_p.I1799V|CR1_ENST00000367051.1_Missense_Mutation_p.I1799V|CR1_ENST00000367053.1_Missense_Mutation_p.I1799V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1799					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.I1804V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGAAAAGAAATATCTTACGC	0.473																																																	1	Substitution - Missense(1)	ovary(1)	1											135.0	130.0	131.0					1																	207790003		1891	4111	6002	205856626	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6745A>G	1.37:g.207790003A>G	ENSP00000356016:p.Ile2249Val	Somatic		Capture	Illumina HiSeq	Phase_I	205856626	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.958013	0.00049	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.15	-8.3	0.01005	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.24470	0.0593	N	0.00801	-1.175	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.17098	0.001;0.017	T	0.50759	-0.8790	9	0.02654	T	1	.	23.1927	0.99980	0.1514:0.0:0.8486:0.0	rs55770942	1799;2249	P17927;E9PDY4	CR1_HUMAN;.	V	1799;1799;1799;1799;2249	ENSP00000356019:I1799V;ENSP00000356018:I1799V;ENSP00000356020:I1799V;ENSP00000383744:I1799V;ENSP00000356016:I2249V	ENSP00000356016:I2249V	I	+	1	0	CR1	205856626	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-2.738000	0.00800	-2.855000	0.00329	-1.192000	0.01694	ATA		CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
RYR2	6262	hgsc.bcm.edu	37	1	237777661	237777661	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:237777661A>G	ENST00000366574.2	+	37	5550	c.5233A>G	c.(5233-5235)Aaa>Gaa	p.K1745E	RYR2_ENST00000542537.1_Missense_Mutation_p.K1729E|RYR2_ENST00000360064.6_Missense_Mutation_p.K1743E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1745	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGAACAAAAAACACGGCCT	0.517																																																	0			1											65.0	65.0	65.0					1																	237777661		2048	4201	6249	235844284	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5233A>G	1.37:g.237777661A>G	ENSP00000355533:p.Lys1745Glu	Somatic		Capture	Illumina HiSeq	Phase_I	235844284	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255930	0.22965	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73363	-0.74;-0.74;-0.74	5.43	4.26	0.50523	.	0.000000	0.64402	D	0.000006	T	0.58623	0.2135	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48163	-0.9059	10	0.11794	T	0.64	.	10.2702	0.43479	0.9155:0.0:0.0845:0.0	.	1745	Q92736	RYR2_HUMAN	E	1745;1743;1729	ENSP00000355533:K1745E;ENSP00000353174:K1743E;ENSP00000443798:K1729E	ENSP00000353174:K1743E	K	+	1	0	RYR2	235844284	1.000000	0.71417	0.940000	0.37924	0.850000	0.48378	4.224000	0.58593	0.851000	0.35264	0.528000	0.53228	AAA		RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
FH	2271	hgsc.bcm.edu	37	1	241663880	241663880	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:241663880A>G	ENST00000366560.3	-	9	1285	c.1247T>C	c.(1246-1248)gTg>gCg	p.V416A		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	416					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGAGTGTAACACATTTTTAAT	0.428			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)		yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		"""E, M"""	0			1											66.0	64.0	64.0					1																	241663880		2203	4300	6503	239730503	SO:0001583	missense	3949	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1247T>C	1.37:g.241663880A>G	ENSP00000355518:p.Val416Ala	Somatic		Capture	Illumina HiSeq	Phase_I	239730503	B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796993	0.70567	.	.	ENSG00000091483	ENST00000366560	D	0.92099	-2.97	5.71	5.71	0.89125	L-Aspartase-like (1);	0.120226	0.56097	D	0.000028	D	0.93592	0.7954	M	0.87381	2.88	0.80722	D	1	P	0.39696	0.683	B	0.42112	0.376	D	0.94248	0.7491	10	0.87932	D	0	-2.1797	13.9333	0.64010	1.0:0.0:0.0:0.0	.	416	P07954	FUMH_HUMAN	A	416	ENSP00000355518:V416A	ENSP00000355518:V416A	V	-	2	0	FH	239730503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.059000	0.76684	2.178000	0.69098	0.533000	0.62120	GTG		FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143	
OR52E4	390081	hgsc.bcm.edu	37	11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453																																																	1	Substitution - Missense(1)	lung(1)	11											154.0	140.0	145.0					11																	5906021		2201	4296	6497	5862597	SO:0001583	missense	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.499C>T	11.37:g.5906021C>T	ENSP00000321426:p.Arg167Cys	Somatic		Capture	Illumina HiSeq	Phase_I	5862597	Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661888	0.47572	.	.	ENSG00000180974	ENST00000316987	T	0.00188	8.59	5.15	0.874	0.19124	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000210	T	0.00468	0.0015	M	0.86953	2.85	0.09310	N	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.44817	-0.9303	10	0.87932	D	0	.	5.7145	0.17952	0.4898:0.3415:0.0:0.1687	.	167	Q8NGH9	O52E4_HUMAN	C	167	ENSP00000321426:R167C	ENSP00000321426:R167C	R	+	1	0	OR52E4	5862597	0.000000	0.05858	0.016000	0.15963	0.913000	0.54294	-0.034000	0.12225	-0.017000	0.14103	0.643000	0.83706	CGT		OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
METTL15	196074	hgsc.bcm.edu	37	11	28135031	28135031	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:28135031T>C	ENST00000407364.3	+	3	502	c.150T>C	c.(148-150)gaT>gaC	p.D50D	METTL15_ENST00000379199.2_Silent_p.D50D|METTL15_ENST00000342303.5_Silent_p.D50D|METTL15_ENST00000406787.3_Silent_p.D50D|METTL15_ENST00000303459.6_Silent_p.D50D|METTL15_ENST00000403099.1_Silent_p.D50D			A6NJ78	MET15_HUMAN	methyltransferase like 15	50							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCAAACAGATCAAACTCAAG	0.383																																																	0			11											52.0	60.0	57.0					11																	28135031		2202	4299	6501	28091607	SO:0001819	synonymous_variant	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.150T>C	11.37:g.28135031T>C		Somatic		Capture	Illumina HiSeq	Phase_I	28091607	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Silent	SNP	ENST00000407364.3	37	CCDS44559.1																																																																																				METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636	
OR4S2	219431	hgsc.bcm.edu	37	11	55418738	55418738	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:55418738G>A	ENST00000312422.2	+	1	359	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GCCTATGATCGTTATGTGGCT	0.428																																																	0			11											205.0	173.0	184.0					11																	55418738		2181	4039	6220	55175314	SO:0001583	missense	219431			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.359G>A	11.37:g.55418738G>A	ENSP00000310337:p.Arg120His	Somatic		Capture	Illumina HiSeq	Phase_I	55175314	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757293	0.49468	.	.	ENSG00000174982	ENST00000312422	T	0.77489	-1.1	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000150	T	0.81564	0.4849	M	0.86420	2.815	0.47511	D	0.99944	B	0.21452	0.056	B	0.16289	0.015	T	0.80471	-0.1368	10	0.59425	D	0.04	.	17.6575	0.88182	0.0:0.0:1.0:0.0	.	120	Q8NH73	OR4S2_HUMAN	H	120	ENSP00000310337:R120H	ENSP00000310337:R120H	R	+	2	0	OR4S2	55175314	0.998000	0.40836	0.986000	0.45419	0.323000	0.28346	6.549000	0.73900	2.512000	0.84698	0.549000	0.68633	CGT		OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
P2RX3	5024	hgsc.bcm.edu	37	11	57118272	57118272	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:57118272G>A	ENST00000263314.2	+	8	776	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	248					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CTGGGTGTGCGACTTGGACAA	0.597																																																	0			11											90.0	75.0	80.0					11																	57118272		2201	4296	6497	56874848	SO:0001583	missense	5024			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.742G>A	11.37:g.57118272G>A	ENSP00000263314:p.Asp248Asn	Somatic		Capture	Illumina HiSeq	Phase_I	56874848	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739924	0.69304	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.05649	3.41	5.83	5.83	0.93111	.	0.049050	0.85682	D	0.000000	T	0.05364	0.0142	N	0.16790	0.44	0.80722	D	1	P	0.34892	0.474	B	0.36567	0.228	T	0.49011	-0.8983	10	0.09338	T	0.73	-37.9877	17.0318	0.86463	0.0:0.0:1.0:0.0	.	248	P56373	P2RX3_HUMAN	N	248	ENSP00000263314:D248N	ENSP00000263314:D248N	D	+	1	0	P2RX3	56874848	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	5.315000	0.65810	2.761000	0.94854	0.650000	0.86243	GAC		P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559	
RTN3	10313	hgsc.bcm.edu	37	11	63523611	63523611	+	Missense_Mutation	SNP	G	G	A	rs140229299	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:63523611G>A	ENST00000377819.5	+	8	3176	c.3022G>A	c.(3022-3024)Gcc>Acc	p.A1008T	RTN3_ENST00000537981.1_Missense_Mutation_p.A212T|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Missense_Mutation_p.A231T|RTN3_ENST00000540798.1_Missense_Mutation_p.A896T|RTN3_ENST00000354497.4_Silent_p.S126S|RTN3_ENST00000339997.4_Missense_Mutation_p.A989T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1008	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A989T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGTTGGCATCGCCCGAGATCA	0.408																																																	1	Substitution - Missense(1)	ovary(1)	11						G	THR/ALA,THR/ALA,THR/ALA,	0,4402		0,0,2201	202.0	176.0	185.0		634,2965,691,	4.4	1.0	11	dbSNP_134	185	3,8593	3.0+/-9.4	0,3,4295	yes	missense,missense,missense,intron	RTN3	NM_006054.2,NM_201428.1,NM_201429.1,NM_201430.1	58,58,58,	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,	212/237,989/1014,231/256,	63523611	3,12995	2201	4298	6499	63280187	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3022G>A	11.37:g.63523611G>A	ENSP00000367050:p.Ala1008Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63280187	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701249	0.88924	0.0	3.49E-4	ENSG00000133318	ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.28	4.36	0.52297	.	0.400023	0.26680	N	0.023041	T	0.56352	0.1979	L	0.53249	1.67	0.23923	N	0.996458	D;D;D;D;D	0.65815	0.991;0.987;0.988;0.984;0.995	P;P;P;P;P	0.57101	0.79;0.813;0.75;0.667;0.682	T	0.51474	-0.8701	10	0.66056	D	0.02	-0.6239	11.4294	0.50032	0.088:0.0:0.912:0.0	.	896;1008;212;989;231	F5H774;O95197;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.	T	231;1008;989;896;212	ENSP00000348279:A231T;ENSP00000367050:A1008T;ENSP00000344106:A989T;ENSP00000442733:A896T;ENSP00000440874:A212T	ENSP00000344106:A989T	A	+	1	0	RTN3	63280187	0.920000	0.31207	0.964000	0.40570	0.992000	0.81027	4.841000	0.62824	1.233000	0.43693	0.555000	0.69702	GCC		RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
GPR152	390212	hgsc.bcm.edu	37	11	67219092	67219092	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:67219092C>T	ENST00000312457.2	-	1	1108	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	368						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGTGGGATCCGATCGTGGCT	0.617																																					Pancreas(102;800 1581 2723 7382 33622)												0			11											51.0	47.0	49.0					11																	67219092		2200	4295	6495	66975668	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1104G>A	11.37:g.67219092C>T		Somatic		Capture	Illumina HiSeq	Phase_I	66975668	Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1		
CHRDL2	25884	hgsc.bcm.edu	37	11	74424489	74424489	+	Silent	SNP	C	C	T	rs555934347		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:74424489C>T	ENST00000376332.3	-	3	727	c.231G>A	c.(229-231)ccG>ccA	p.P77P	CHRDL2_ENST00000263671.5_Silent_p.P77P|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	77	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AGTGGACAGGCGGACAGTGGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19171	0.0		0.0	False		,,,				2504	0.001																0			11											103.0	88.0	93.0					11																	74424489		2200	4293	6493	74102137	SO:0001819	synonymous_variant	25884			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.231G>A	11.37:g.74424489C>T		Somatic		Capture	Illumina HiSeq	Phase_I	74102137	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Silent	SNP	ENST00000376332.3	37																																																																																					CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
CLNS1A	1207	hgsc.bcm.edu	37	11	77333633	77333633	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:77333633C>A	ENST00000525428.1	-	5	648	c.558G>T	c.(556-558)gaG>gaT	p.E186D	CLNS1A_ENST00000263309.3_Missense_Mutation_p.E152D|CLNS1A_ENST00000528364.1_Missense_Mutation_p.E186D|CLNS1A_ENST00000525064.1_Intron|CLNS1A_ENST00000532069.1_Missense_Mutation_p.E116D	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	186					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTTCTAATCTCTCCAGTGTGG	0.433																																																	0			11											130.0	112.0	118.0					11																	77333633		2200	4292	6492	77011281	SO:0001583	missense	1207			U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.558G>T	11.37:g.77333633C>A	ENSP00000433919:p.Glu186Asp	Somatic		Capture	Illumina HiSeq	Phase_I	77011281	B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Missense_Mutation	SNP	ENST00000525428.1	37	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411149	0.83340	.	.	ENSG00000074201	ENST00000525428;ENST00000263309;ENST00000532069;ENST00000528364	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	4.9	4.9	0.64082	.	0.048315	0.85682	D	0.000000	D	0.98112	0.9377	M	0.66939	2.045	0.53005	D	0.99996	B;D	0.62365	0.217;0.991	B;P	0.55508	0.121;0.777	D	0.97805	1.0247	10	0.19147	T	0.46	-10.2334	18.4196	0.90586	0.0:1.0:0.0:0.0	.	116;186	E9PMI6;P54105	.;ICLN_HUMAN	D	186;152;116;186	ENSP00000433919:E186D;ENSP00000263309:E152D;ENSP00000434963:E116D;ENSP00000434311:E186D	ENSP00000263309:E152D	E	-	3	2	CLNS1A	77011281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.419000	0.82065	0.655000	0.94253	GAG		CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293	
ME3	10873	hgsc.bcm.edu	37	11	86152477	86152477	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:86152477G>A	ENST00000393324.3	-	14	1912	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	ME3_ENST00000543262.1_Silent_p.L553L|ME3_ENST00000359636.2_Silent_p.L553L|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	553					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.L553L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				ACGCGTAGTCGAGAACCTAGA	0.493																																																	1	Substitution - coding silent(1)	ovary(1)	11											159.0	149.0	152.0					11																	86152477		2202	4299	6501	85830125	SO:0001819	synonymous_variant	56110			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1659C>T	11.37:g.86152477G>A		Somatic		Capture	Illumina HiSeq	Phase_I	85830125	B7Z6V0|Q8TBJ0	Silent	SNP	ENST00000393324.3	37	CCDS8277.1																																																																																				ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2		
CNTN5	53942	hgsc.bcm.edu	37	11	100211914	100211914	+	Missense_Mutation	SNP	G	G	A	rs201638465		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:100211914G>A	ENST00000524871.1	+	23	3297	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929K|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATTAGCCAACGAATCTGAAGT	0.433																																																	0			11											139.0	137.0	137.0					11																	100211914		1866	4109	5975	99717124	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3007G>A	11.37:g.100211914G>A	ENSP00000435637:p.Glu1003Lys	Somatic		Capture	Illumina HiSeq	Phase_I	99717124	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703237	0.88924	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.74523	-0.3637	9	.	.	.	.	18.288	0.90120	0.0:0.0:1.0:0.0	.	929;1003	O94779-2;O94779	.;CNTN5_HUMAN	K	1003;1003;929;1003	ENSP00000436185:E1003K;ENSP00000435637:E1003K;ENSP00000393229:E929K;ENSP00000279463:E1003K	.	E	+	1	0	CNTN5	99717124	1.000000	0.71417	0.978000	0.43139	0.872000	0.50106	8.972000	0.93424	2.566000	0.86566	0.655000	0.94253	GAA		CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
MMP27	64066	hgsc.bcm.edu	37	11	102564712	102564712	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:102564712A>G	ENST00000260229.4	-	8	1209	c.1118T>C	c.(1117-1119)gTg>gCg	p.V373A		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	373					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V373E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TATTTTCTTCACACGTCCTGG	0.418																																																	1	Substitution - Missense(1)	ovary(1)	11											150.0	142.0	145.0					11																	102564712		2203	4299	6502	102069922	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1118T>C	11.37:g.102564712A>G	ENSP00000260229:p.Val373Ala	Somatic		Capture	Illumina HiSeq	Phase_I	102069922	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453162	0.63290	.	.	ENSG00000137675	ENST00000260229	T	0.15372	2.43	4.79	3.64	0.41730	Hemopexin/matrixin (2);	0.287996	0.24532	N	0.037706	T	0.40473	0.1118	M	0.85299	2.745	0.44432	D	0.997355	D	0.56035	0.974	P	0.62089	0.898	T	0.41610	-0.9499	10	0.72032	D	0.01	.	10.6059	0.45394	0.9123:0.0:0.0877:0.0	.	373	Q9H306	MMP27_HUMAN	A	373	ENSP00000260229:V373A	ENSP00000260229:V373A	V	-	2	0	MMP27	102069922	0.934000	0.31675	0.994000	0.49952	0.493000	0.33554	6.909000	0.75735	1.996000	0.58369	0.533000	0.62120	GTG		MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
MMP8	4317	hgsc.bcm.edu	37	11	102593393	102593393	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:102593393T>C	ENST00000236826.3	-	2	212	c.114A>G	c.(112-114)gaA>gaG	p.E38E		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	38					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GGTAGAACTTTTCCAGGTAGT	0.423																																																	0			11											88.0	86.0	87.0					11																	102593393		2203	4298	6501	102098603	SO:0001819	synonymous_variant	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.114A>G	11.37:g.102593393T>C		Somatic		Capture	Illumina HiSeq	Phase_I	102098603	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	T	8.001	0.755376	0.15846	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.99	2.14	0.27477	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.23048	-1.0199	4	.	.	.	.	5.7122	0.17941	0.1148:0.2987:0.0:0.5865	.	.	.	.	E	14	.	.	K	-	1	0	MMP8	102098603	0.000000	0.05858	0.076000	0.20297	0.985000	0.73830	-1.055000	0.03493	0.094000	0.17404	0.533000	0.62120	AAA		MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	
ATM	472	hgsc.bcm.edu	37	11	108106551	108106551	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:108106551A>G	ENST00000452508.2	+	6	675	c.486A>G	c.(484-486)caA>caG	p.Q162Q	ATM_ENST00000278616.4_Silent_p.Q162Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	162					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TATCTCAGCAACAGTGGTTAG	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											233.0	234.0	234.0					11																	108106551		2201	4298	6499	107611761	SO:0001819	synonymous_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.486A>G	11.37:g.108106551A>G		Somatic		Capture	Illumina HiSeq	Phase_I	107611761	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
DNAH8	1769	hgsc.bcm.edu	37	6	38773335	38773335	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:38773335A>G	ENST00000359357.3	+	21	2716	c.2462A>G	c.(2461-2463)gAg>gGg	p.E821G	DNAH8_ENST00000449981.2_Missense_Mutation_p.E1038G|DNAH8_ENST00000441566.1_Missense_Mutation_p.E821G			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	821					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGTGAATGAGTTTGATACT	0.313																																																	0			6											97.0	94.0	95.0					6																	38773335		2203	4300	6503	38881313	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2462A>G	6.37:g.38773335A>G	ENSP00000352312:p.Glu821Gly	Somatic		Capture	Illumina HiSeq	Phase_I	38881313	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	A	9.509	1.105201	0.20632	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26223	1.78;1.78;1.75	5.45	4.26	0.50523	.	1.086810	0.06911	N	0.807661	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.38520	-0.9657	10	0.23302	T	0.38	.	9.7228	0.40313	0.8454:0.0:0.0:0.1546	.	821	Q96JB1	DYH8_HUMAN	G	1026;1026;821;821	ENSP00000333363:E1026G;ENSP00000352312:E821G;ENSP00000402294:E821G	ENSP00000333363:E1026G	E	+	2	0	DNAH8	38881313	0.799000	0.28903	0.008000	0.14137	0.200000	0.23975	2.658000	0.46733	0.975000	0.38392	0.533000	0.62120	GAG		DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
GPR115	221393	hgsc.bcm.edu	37	6	47682172	47682172	+	Silent	SNP	C	C	T	rs367867105		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:47682172C>T	ENST00000283303.2	+	6	1449	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Silent_p.T454T|GPR115_ENST00000327753.3_Silent_p.T397T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	397					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AATCGATGACCGACAAAGTTC	0.483																																					GBM(22;431 510 9010 26644 32828)												0			6						C		0,4406		0,0,2203	154.0	119.0	131.0		1191	-10.5	0.0	6		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR115	NM_153838.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		397/696	47682172	1,13005	2203	4300	6503	47790131	SO:0001819	synonymous_variant	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1191C>T	6.37:g.47682172C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47790131	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	CCDS4922.2																																																																																				GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838	
SLC35D3	340146	hgsc.bcm.edu	37	6	137245445	137245445	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:137245445G>A	ENST00000331858.4	+	2	1027	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	288					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)		p.V288M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TGCCGGCGTGGTGGTGAACAC	0.592																																																	1	Substitution - Missense(1)	central_nervous_system(1)	6											75.0	69.0	71.0					6																	137245445		2203	4300	6503	137287138	SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.862G>A	6.37:g.137245445G>A	ENSP00000333591:p.Val288Met	Somatic		Capture	Illumina HiSeq	Phase_I	137287138	B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036939	0.75617	.	.	ENSG00000182747	ENST00000331858	T	0.66099	-0.19	5.68	5.68	0.88126	Domain of unknown function DUF250 (1);	0.064498	0.64402	D	0.000010	T	0.70552	0.3237	L	0.55481	1.735	0.53005	D	0.999965	D	0.65815	0.995	D	0.65323	0.934	T	0.68887	-0.5290	10	0.48119	T	0.1	-22.3154	19.7951	0.96477	0.0:0.0:1.0:0.0	.	288	Q5M8T2	S35D3_HUMAN	M	288	ENSP00000333591:V288M	ENSP00000333591:V288M	V	+	1	0	SLC35D3	137287138	1.000000	0.71417	0.986000	0.45419	0.917000	0.54804	9.765000	0.98953	2.698000	0.92095	0.561000	0.74099	GTG		SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017	
TNFAIP3	7128	hgsc.bcm.edu	37	6	138200294	138200294	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:138200294T>C	ENST00000237289.4	+	7	1778	c.1712T>C	c.(1711-1713)gTc>gCc	p.V571A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	571	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCGCGGCTCGTCCGGAGCCCC	0.637			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)	6											55.0	60.0	58.0					6																	138200294		2203	4300	6503	138241987	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1712T>C	6.37:g.138200294T>C	ENSP00000237289:p.Val571Ala	Somatic		Capture	Illumina HiSeq	Phase_I	138241987	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	T	1.273	-0.612529	0.03690	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.21031	2.03	5.84	-1.59	0.08453	.	1.311420	0.04429	N	0.368847	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39542	-0.9609	10	0.22706	T	0.39	-21.4622	6.2662	0.20928	0.0:0.3595:0.2674:0.3731	.	571	P21580	TNAP3_HUMAN	A	571	ENSP00000237289:V571A	ENSP00000237289:V571A	V	+	2	0	TNFAIP3	138241987	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.047000	0.14056	-0.093000	0.12396	-1.235000	0.01560	GTC		TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		
UST	10090	hgsc.bcm.edu	37	6	149285594	149285594	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:149285594C>T	ENST00000367463.4	+	5	679	c.576C>T	c.(574-576)gtC>gtT	p.V192V	RP11-162J8.2_ENST00000413845.1_RNA	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	192					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GAGACCCCGTCAACCGGTTCT	0.498																																																	0			6											104.0	95.0	98.0					6																	149285594		2203	4300	6503	149327287	SO:0001819	synonymous_variant	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.576C>T	6.37:g.149285594C>T		Somatic		Capture	Illumina HiSeq	Phase_I	149327287	B2RCX6	Silent	SNP	ENST00000367463.4	37	CCDS5213.1																																																																																				UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	
SYNE1	23345	hgsc.bcm.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)																																							2	Substitution - Missense(2)	large_intestine(2)	6											173.0	149.0	157.0					6																	152462343		2203	4300	6503	152504036	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25241C>T	6.37:g.152462343G>A	ENSP00000356224:p.Thr8414Met	Somatic		Capture	Illumina HiSeq	Phase_I	152504036	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654955	0.47467	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.56611	0.54;4.6;1.45;0.53;0.45;0.53;0.66;2.56;1.61;4.6	5.84	3.13	0.36017	.	0.113562	0.39759	N	0.001275	T	0.57504	0.2058	M	0.70595	2.14	0.40467	D	0.980307	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.918	P;P;D;D;B	0.68621	0.855;0.855;0.959;0.912;0.39	T	0.60193	-0.7311	10	0.48119	T	0.1	.	11.5613	0.50778	0.1857:0.0:0.8143:0.0	.	8414;8414;8366;8366;616	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8414;569;1060;8366;8414;8366;8026;2938;599;594;1359;592	ENSP00000356224:T8414M;ENSP00000441052:T569M;ENSP00000356226:T1060M;ENSP00000396024:T8366M;ENSP00000265368:T8414M;ENSP00000390975:T8366M;ENSP00000341887:T8026M;ENSP00000349276:T2938M;ENSP00000356220:T1359M;ENSP00000346701:T592M	ENSP00000265368:T8414M	T	-	2	0	SYNE1	152504036	1.000000	0.71417	0.886000	0.34754	0.287000	0.27160	3.615000	0.54167	0.391000	0.25143	-1.008000	0.02478	ACG		SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TP53	7157	hgsc.bcm.edu	37	17	7576918	7576918	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:7576918T>C	ENST00000269305.4	-	9	1117	c.928A>G	c.(928-930)Aac>Gac	p.N310D	TP53_ENST00000455263.2_Missense_Mutation_p.N310D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.N310D|TP53_ENST00000359597.4_Missense_Mutation_p.N310D|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.N310D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	310	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		N -> I (in a sporadic cancer; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(3)|p.A307fs*34(1)|p.N310fs*27(1)|p.N310L(1)|p.P309fs*26(1)|p.L308fs*15(1)|p.L308fs*31(1)|p.N310D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGGTGTTGTTGGGCAGTGCT	0.488		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	18	Whole gene deletion(8)|Deletion - Frameshift(4)|Unknown(3)|Substitution - Missense(2)|Insertion - Frameshift(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|large_intestine(1)|stomach(1)|lung(1)|oesophagus(1)|liver(1)	17											135.0	122.0	126.0					17																	7576918		2203	4300	6503	7517643	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.928A>G	17.37:g.7576918T>C	ENSP00000269305:p.Asn310Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7517643	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	8.971	0.972950	0.18736	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99722	-5.72;-5.46;-5.72;-5.72;-5.46;-6.53	5.16	4.08	0.47627	.	2.455720	0.01918	N	0.040315	D	0.98213	0.9409	N	0.16743	0.435	0.09310	N	0.999992	B;B;B;B	0.20988	0.007;0.05;0.0;0.004	B;B;B;B	0.20767	0.026;0.031;0.0;0.012	D	0.98036	1.0379	10	0.11794	T	0.64	-12.5551	8.9375	0.35708	0.0:0.0:0.2035:0.7965	.	310;310;310;310	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	D	310;310;310;310;310;299;178	ENSP00000352610:N310D;ENSP00000269305:N310D;ENSP00000398846:N310D;ENSP00000391127:N310D;ENSP00000391478:N310D;ENSP00000425104:N178D	ENSP00000269305:N310D	N	-	1	0	TP53	7517643	0.005000	0.15991	0.079000	0.20413	0.230000	0.25150	0.172000	0.16704	0.985000	0.38656	0.459000	0.35465	AAC		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ATAD5	79915	hgsc.bcm.edu	37	17	29161960	29161960	+	Missense_Mutation	SNP	G	G	T	rs60663953|rs80170526|rs398102309|rs72427574	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:29161960G>T	ENST00000321990.4	+	2	1239	c.861G>T	c.(859-861)atG>atT	p.M287I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	287					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACTCTACAATGTCAATTTGTG	0.348																																																	0			17											40.0	40.0	40.0					17																	29161960		2195	4274	6469	26186086	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.861G>T	17.37:g.29161960G>T	ENSP00000313171:p.Met287Ile	Somatic		Capture	Illumina HiSeq	Phase_I	26186086	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	5.215	0.225221	0.09916	.	.	ENSG00000176208	ENST00000321990	T	0.18810	2.19	5.61	0.154	0.14901	.	1.134440	0.06347	N	0.709245	T	0.15435	0.0372	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33445	-0.9868	10	0.45353	T	0.12	.	6.4897	0.22109	0.3734:0.0:0.5153:0.1114	.	287;287	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	I	287	ENSP00000313171:M287I	ENSP00000313171:M287I	M	+	3	0	ATAD5	26186086	0.003000	0.15002	0.005000	0.12908	0.767000	0.43475	0.774000	0.26675	-0.077000	0.12752	0.655000	0.94253	ATG		ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
ERBB2	2064	hgsc.bcm.edu	37	17	37879794	37879794	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:37879794G>T	ENST00000269571.5	+	18	2248	c.2089G>T	c.(2089-2091)Gtg>Ttg	p.V697L	ERBB2_ENST00000584601.1_Missense_Mutation_p.V667L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V667L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V667L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V697L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V682L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V421L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	697					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACCCCAGCTGGTGGAGCCGCT	0.672		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0			17											36.0	39.0	38.0					17																	37879794		2202	4299	6501	35133320	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2089G>T	17.37:g.37879794G>T	ENSP00000269571:p.Val697Leu	Somatic		Capture	Illumina HiSeq	Phase_I	35133320	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304268	0.60305	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75938	-0.98;-0.98;-0.97;-0.98;-0.98	4.97	4.97	0.65823	.	.	.	.	.	D	0.83695	0.5310	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.84356	0.0535	9	0.51188	T	0.08	.	17.8613	0.88781	0.0:0.0:1.0:0.0	.	421;682;697	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	667;682;421;697;667	ENSP00000385185:V667L;ENSP00000446466:V682L;ENSP00000404047:V421L;ENSP00000269571:V697L;ENSP00000443562:V667L	ENSP00000269571:V697L	V	+	1	0	ERBB2	35133320	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.996000	0.88334	2.317000	0.78254	0.561000	0.74099	GTG		ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
CDC6	990	hgsc.bcm.edu	37	17	38447589	38447589	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:38447589A>G	ENST00000209728.4	+	3	929	c.458A>G	c.(457-459)gAa>gGa	p.E153G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	153					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTCAAGCAAGAAGGTTTGTTC	0.408																																																	0			17											84.0	87.0	86.0					17																	38447589		2203	4300	6503	35701115	SO:0001583	missense	990			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.458A>G	17.37:g.38447589A>G	ENSP00000209728:p.Glu153Gly	Somatic		Capture	Illumina HiSeq	Phase_I	35701115	Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.712008	0.48517	.	.	ENSG00000094804	ENST00000209728	T	0.53640	0.61	5.86	4.76	0.60689	.	0.253355	0.45126	D	0.000395	T	0.43366	0.1244	L	0.59436	1.845	0.45464	D	0.998435	B	0.19073	0.033	B	0.13407	0.009	T	0.25572	-1.0128	10	0.26408	T	0.33	-2.1609	12.3968	0.55389	0.8592:0.1408:0.0:0.0	.	153	Q99741	CDC6_HUMAN	G	153	ENSP00000209728:E153G	ENSP00000209728:E153G	E	+	2	0	CDC6	35701115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.682000	0.54656	1.101000	0.41535	0.528000	0.53228	GAA		CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		
USP25	29761	hgsc.bcm.edu	37	21	17250153	17250153	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr21:17250153A>G	ENST00000285679.6	+	23	3207	c.2838A>G	c.(2836-2838)ggA>ggG	p.G946G	USP25_ENST00000351097.5_Silent_p.G341G|USP25_ENST00000400183.2_Silent_p.G1016G|USP25_ENST00000285681.2_Silent_p.G978G	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	946					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCGAATCTGGAGAGGATCGAG	0.328																																																	0			21											92.0	93.0	93.0					21																	17250153		2203	4300	6503	16172024	SO:0001819	synonymous_variant	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2838A>G	21.37:g.17250153A>G		Somatic		Capture	Illumina HiSeq	Phase_I	16172024	C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	CCDS33515.1																																																																																				USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
APP	351	hgsc.bcm.edu	37	21	27484438	27484438	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr21:27484438A>G	ENST00000346798.3	-	2	116	c.83T>C	c.(82-84)cTg>cCg	p.L28P	APP_ENST00000357903.3_Missense_Mutation_p.L28P|APP_ENST00000440126.3_Missense_Mutation_p.L23P|APP_ENST00000439274.2_Intron|APP_ENST00000348990.5_Missense_Mutation_p.L28P|APP_ENST00000358918.3_Missense_Mutation_p.L28P|APP_ENST00000448388.2_5'UTR|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_Intron|APP_ENST00000359726.3_Missense_Mutation_p.L28P	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	28					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTCAGCCAGCAGGCCAGCATT	0.488																																																	0			21											119.0	106.0	111.0					21																	27484438		2203	4300	6503	26406309	SO:0001583	missense	351			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.83T>C	21.37:g.27484438A>G	ENSP00000284981:p.Leu28Pro	Somatic		Capture	Illumina HiSeq	Phase_I	26406309	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318766	0.81469	.	.	ENSG00000142192	ENST00000346798;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000440126	D;D;D;D;D;D	0.96427	-2.05;-4.01;-2.07;-1.91;-4.01;-2.09	5.44	5.44	0.79542	Amyloidogenic glycoprotein, heparin-binding (1);Amyloidogenic glycoprotein, extracellular (1);	0.000000	0.64402	D	0.000001	D	0.97476	0.9174	M	0.61703	1.905	0.80722	D	1	D;B;D;D;D	0.89917	1.0;0.111;0.999;0.996;0.998	D;B;D;D;D	0.91635	0.999;0.086;0.985;0.968;0.988	D	0.97603	1.0124	10	0.46703	T	0.11	-15.0248	15.1534	0.72720	1.0:0.0:0.0:0.0	.	28;23;28;28;28	P05067-2;B4DII8;P05067-4;P05067-8;P05067	.;.;.;.;A4_HUMAN	P	28;28;28;28;28;23	ENSP00000284981:L28P;ENSP00000345463:L28P;ENSP00000350578:L28P;ENSP00000351796:L28P;ENSP00000352760:L28P;ENSP00000387483:L23P	ENSP00000284981:L28P	L	-	2	0	APP	26406309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.051000	0.76627	2.047000	0.60756	0.533000	0.62120	CTG		APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484	
KRTAP8-1	337879	hgsc.bcm.edu	37	21	32185378	32185378	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr21:32185378T>C	ENST00000329621.4	-	1	192	c.161A>G	c.(160-162)tAc>tGc	p.Y54C		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	54	12 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						GTATCTCCTGTAGCCGAAAGC	0.562																																																	0			21											87.0	82.0	83.0					21																	32185378		2203	4300	6503	31107249	SO:0001583	missense	337879			AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"""Keratin associated proteins"""	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.161A>G	21.37:g.32185378T>C	ENSP00000332805:p.Tyr54Cys	Somatic		Capture	Illumina HiSeq	Phase_I	31107249	Q3LI57	Missense_Mutation	SNP	ENST00000329621.4	37	CCDS13607.1	.	.	.	.	.	.	.	.	.	.	T	3.877	-0.026674	0.07589	.	.	ENSG00000183640	ENST00000329621	T	0.15718	2.4	5.56	4.39	0.52855	.	0.000000	0.46442	D	0.000295	T	0.36744	0.0978	.	.	.	0.36452	D	0.866163	D	0.89917	1.0	D	0.81914	0.995	T	0.39272	-0.9622	9	0.42905	T	0.14	-1.0634	9.0834	0.36565	0.1633:0.0:0.0:0.8367	.	54	Q8IUC2	KRA81_HUMAN	C	54	ENSP00000332805:Y54C	ENSP00000332805:Y54C	Y	-	2	0	KRTAP8-1	31107249	0.950000	0.32346	0.968000	0.41197	0.209000	0.24338	0.223000	0.17719	1.020000	0.39573	-0.336000	0.08194	TAC		KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1		
CACNA1H	8912	hgsc.bcm.edu	37	16	1260600	1260600	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:1260600C>T	ENST00000348261.5	+	20	4235	c.3987C>T	c.(3985-3987)agC>agT	p.S1329S	CACNA1H_ENST00000565831.1_Silent_p.S1329S|CACNA1H_ENST00000358590.4_Silent_p.S1329S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1329					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCTTCCTCAGCGTCTCCAATT	0.672																																																	0			16											32.0	36.0	35.0					16																	1260600		1998	4163	6161	1200601	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3987C>T	16.37:g.1260600C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1200601	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
SLX4	84464	hgsc.bcm.edu	37	16	3647924	3647924	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:3647924C>T	ENST00000294008.3	-	6	1880	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	414	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGCCTCGTCCACCTTCCGC	0.597								Direct reversal of damage																																									0			16											84.0	80.0	81.0					16																	3647924		2197	4300	6497	3587925	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1240G>A	16.37:g.3647924C>T	ENSP00000294008:p.Asp414Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3587925	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	0.108	-1.142433	0.01728	.	.	ENSG00000188827	ENST00000294008	T	0.20200	2.09	3.63	-2.32	0.06745	.	1.541050	0.03830	N	0.268953	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23726	-1.0180	10	0.10902	T	0.67	.	3.4271	0.07414	0.1819:0.3515:0.0:0.4666	.	414	Q8IY92	SLX4_HUMAN	N	414	ENSP00000294008:D414N	ENSP00000294008:D414N	D	-	1	0	SLX4	3587925	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.936000	0.03946	-0.117000	0.11872	0.655000	0.94253	GAC		SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
THUMPD1	55623	hgsc.bcm.edu	37	16	20753048	20753048	+	Missense_Mutation	SNP	G	G	A	rs368837394		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:20753048G>A	ENST00000381337.2	-	1	358	c.14C>T	c.(13-15)gCc>gTc	p.A5V	THUMPD1_ENST00000431224.2_Missense_Mutation_p.A91V|AC004381.7_ENST00000565498.1_RNA|THUMPD1_ENST00000396083.2_Missense_Mutation_p.A5V	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	5							poly(A) RNA binding (GO:0044822)			NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						AGTCTGCTGGGCAGGGGCCGC	0.662																																																	0			16						G	VAL/ALA	0,4370		0,0,2185	8.0	9.0	8.0		14	-6.4	0.0	16		8	1,8581		0,1,4290	no	missense	THUMPD1	NM_017736.3	64	0,1,6475	AA,AG,GG		0.0117,0.0,0.0077	benign	5/354	20753048	1,12951	2185	4291	6476	20660549	SO:0001583	missense	55623			BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.14C>T	16.37:g.20753048G>A	ENSP00000370741:p.Ala5Val	Somatic		Capture	Illumina HiSeq	Phase_I	20660549	Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	G	6.050	0.377633	0.11466	0.0	1.17E-4	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.50813	0.94;0.73;0.94	5.61	-6.39	0.01951	.	0.702261	0.13356	N	0.394037	T	0.32466	0.0830	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31138	-0.9954	10	0.19147	T	0.46	.	13.2025	0.59776	0.1594:0.1232:0.7174:0.0	.	5	Q9NXG2	THUM1_HUMAN	V	5;91;5	ENSP00000370741:A5V;ENSP00000392282:A91V;ENSP00000379392:A5V	ENSP00000370741:A5V	A	-	2	0	THUMPD1	20660549	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.166000	0.09954	-0.754000	0.04715	-0.837000	0.03062	GCC		THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736	
ZKSCAN2	342357	hgsc.bcm.edu	37	16	25251325	25251325	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:25251325G>A	ENST00000328086.7	-	7	3519	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	906					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458																																																	0			16											97.0	84.0	89.0					16																	25251325		2197	4300	6497	25158826	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2716C>T	16.37:g.25251325G>A	ENSP00000331626:p.Arg906Trp	Somatic		Capture	Illumina HiSeq	Phase_I	25158826	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725457	0.30593	.	.	ENSG00000155592	ENST00000328086	T	0.18810	2.19	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.438734	0.20673	N	0.087800	T	0.39937	0.1097	M	0.87682	2.9	0.26774	N	0.969735	D;D	0.67145	0.993;0.996	P;P	0.51101	0.545;0.659	T	0.47114	-0.9142	10	0.48119	T	0.1	-5.7995	12.3085	0.54915	0.0:0.1697:0.8303:0.0	.	702;906	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	W	906	ENSP00000331626:R906W	ENSP00000331626:R906W	R	-	1	2	ZKSCAN2	25158826	0.905000	0.30787	0.563000	0.28383	0.023000	0.10783	1.766000	0.38491	2.824000	0.97209	0.655000	0.94253	CGG		ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
LCAT	3931	hgsc.bcm.edu	37	16	67977993	67977993	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:67977993G>A	ENST00000264005.5	-	1	41	c.12C>T	c.(10-12)ccC>ccT	p.P4P	SLC12A4_ENST00000422611.2_3'UTR|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	4					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ATGGGGAGCCGGGCGGCCCCA	0.687																																																	0			16											10.0	11.0	11.0					16																	67977993		1926	3788	5714	66535494	SO:0001819	synonymous_variant	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.12C>T	16.37:g.67977993G>A		Somatic		Capture	Illumina HiSeq	Phase_I	66535494	Q53XQ3	Silent	SNP	ENST00000264005.5	37	CCDS10854.1																																																																																				LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		
CDH1	999	hgsc.bcm.edu	37	16	68772219	68772219	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:68772219A>G	ENST00000261769.5	+	2	259	c.68A>G	c.(67-69)cAg>cGg	p.Q23R	CDH1_ENST00000422392.2_Missense_Mutation_p.Q23R	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	23					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.V17fs*1(3)|p.?(2)|p.W20fs*7(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGGCTCTGCCAGGAGCCGGAG	0.677			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	6	Deletion - Frameshift(4)|Unknown(2)	breast(6)	16											14.0	17.0	16.0					16																	68772219		1773	3321	5094	67329720	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.68A>G	16.37:g.68772219A>G	ENSP00000261769:p.Gln23Arg	Somatic		Capture	Illumina HiSeq	Phase_I	67329720	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	5.625	0.300043	0.10622	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53857	0.6;0.61	4.76	2.42	0.29668	Cadherin-like (1);	0.000000	0.34652	N	0.003783	T	0.40145	0.1105	L	0.57536	1.79	0.21579	N	0.999631	B;B	0.26400	0.148;0.148	B;B	0.22601	0.04;0.04	T	0.22347	-1.0219	10	0.16420	T	0.52	.	5.2451	0.15493	0.6334:0.1873:0.0:0.1793	.	23;23	Q9UII8;P12830	.;CADH1_HUMAN	R	23	ENSP00000261769:Q23R;ENSP00000414946:Q23R	ENSP00000261769:Q23R	Q	+	2	0	CDH1	67329720	1.000000	0.71417	0.960000	0.40013	0.249000	0.25844	2.121000	0.41977	0.283000	0.22279	0.460000	0.39030	CAG		CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
CNTNAP4	85445	hgsc.bcm.edu	37	16	76556103	76556103	+	Missense_Mutation	SNP	G	G	A	rs376451733		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:76556103G>A	ENST00000476707.1	+	16	2852	c.2713G>A	c.(2713-2715)Gcc>Acc	p.A905T	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A901T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A829T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A853T			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	902	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GACACAGCCCGCCCCCGCTGA	0.488																																																	0			16						G	THR/ALA,THR/ALA	0,4084		0,0,2042	77.0	81.0	79.0		2703,2485	4.9	0.3	16		79	1,8409		0,1,4204	no	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	58,58	0,1,6246	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	902/1309,829/1236	76556103	1,12493	2042	4205	6247	75113604	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2713G>A	16.37:g.76556103G>A	ENSP00000417628:p.Ala905Thr	Somatic		Capture	Illumina HiSeq	Phase_I	75113604	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	G	9.330	1.060285	0.19987	0.0	1.19E-4	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.41396	D	0.000887	T	0.41351	0.1155	.	.	.	0.43421	D	0.995579	P;P;B	0.45240	0.854;0.582;0.426	B;B;B	0.42738	0.396;0.13;0.102	T	0.15867	-1.0422	9	0.31617	T	0.26	.	11.9643	0.53025	0.0795:0.0:0.9205:0.0	.	829;905;902	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	T	901;853;829;905	ENSP00000306893:A901T;ENSP00000439733:A853T;ENSP00000418741:A829T;ENSP00000417628:A905T	ENSP00000306893:A901T	A	+	1	0	CNTNAP4	75113604	1.000000	0.71417	0.274000	0.24659	0.010000	0.07245	5.481000	0.66826	2.678000	0.91216	0.655000	0.94253	GCC		CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
ESCO1	114799	hgsc.bcm.edu	37	18	19144171	19144171	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr18:19144171A>T	ENST00000269214.5	-	7	2751	c.1814T>A	c.(1813-1815)tTg>tAg	p.L605*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	605					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TACTATAATCAACTGTTTTTC	0.328																																																	0			18											112.0	104.0	107.0					18																	19144171		2202	4298	6500	17398169	SO:0001587	stop_gained	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1814T>A	18.37:g.19144171A>T	ENSP00000269214:p.Leu605*	Somatic		Capture	Illumina HiSeq	Phase_I	17398169	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	A	46	12.759586	0.99694	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	4.78	4.78	0.61160	.	0.222293	0.31061	N	0.008335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6669	8.511	0.33217	0.9121:0.0:0.0879:0.0	.	.	.	.	X	605	.	ENSP00000269214:L605X	L	-	2	0	ESCO1	17398169	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.068000	0.57534	1.922000	0.55676	0.533000	0.62120	TTG		ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
KIAA1328	57536	hgsc.bcm.edu	37	18	34647215	34647215	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr18:34647215T>C	ENST00000280020.5	+	7	961	c.939T>C	c.(937-939)gaT>gaC	p.D313D	KIAA1328_ENST00000435985.2_Silent_p.D29D|KIAA1328_ENST00000586135.1_Silent_p.D29D|KIAA1328_ENST00000543923.1_Silent_p.D205D|KIAA1328_ENST00000591619.1_Silent_p.D309D|KIAA1328_ENST00000586501.1_Silent_p.D29D	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	313										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTGCTGCAGATCGTGTTCATG	0.458																																																	0			18											111.0	106.0	108.0					18																	34647215		2097	4217	6314	32901213	SO:0001819	synonymous_variant	57536			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.939T>C	18.37:g.34647215T>C		Somatic		Capture	Illumina HiSeq	Phase_I	32901213	Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	CCDS45855.1																																																																																				KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776	
EPG5	57724	hgsc.bcm.edu	37	18	43450590	43450590	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr18:43450590C>A	ENST00000282041.5	-	36	6201	c.6167G>T	c.(6166-6168)cGg>cTg	p.R2056L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2056			R -> W (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R2056Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGGCAGTTTCCGGTACGTGCT	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)	18											106.0	107.0	107.0					18																	43450590		1993	4170	6163	41704588	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6167G>T	18.37:g.43450590C>A	ENSP00000282041:p.Arg2056Leu	Somatic		Capture	Illumina HiSeq	Phase_I	41704588	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123745	0.20959	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.08458	3.09	6.03	-12.1	0.00011	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.31946	0.138	T	0.55854	-0.8075	9	0.08179	T	0.78	-0.1748	29.0522	0.99999	0.0:0.8579:0.0:0.1421	.	2056	Q9HCE0	EPG5_HUMAN	L	2056;931	ENSP00000282041:R2056L	ENSP00000282041:R2056L	R	-	2	0	EPG5	41704588	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.613000	0.02059	-2.940000	0.00297	-0.880000	0.02959	CGG		EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
SMAD4	4089	hgsc.bcm.edu	37	18	48575670	48575670	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr18:48575670T>C	ENST00000342988.3	+	4	968	c.430T>C	c.(430-432)Tca>Cca	p.S144P	SMAD4_ENST00000588745.1_Missense_Mutation_p.S144P|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.S144P|SMAD4_ENST00000398417.2_Missense_Mutation_p.S144P	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTAAGATCTCTCAGGATTAAC	0.294																																																	40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	18	GRCh37	CD064639	SMAD4	D							183.0	164.0	171.0					18																	48575670		2202	4298	6500	46829668	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.430T>C	18.37:g.48575670T>C	ENSP00000341551:p.Ser144Pro	Somatic		Capture	Illumina HiSeq	Phase_I	46829668	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364470	0.82463	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;D;D	0.97731	-1.18;-4.51;-4.51	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	M	0.64170	1.965	0.51482	D	0.99992	D	0.55605	0.972	P	0.52386	0.697	D	0.97417	1.0006	10	0.46703	T	0.11	.	15.3535	0.74409	0.0:0.0:0.0:1.0	.	144	Q13485	SMAD4_HUMAN	P	144	ENSP00000409551:S144P;ENSP00000341551:S144P;ENSP00000381452:S144P	ENSP00000341551:S144P	S	+	1	0	SMAD4	46829668	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.017000	0.64047	2.267000	0.75376	0.477000	0.44152	TCA		SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SMAD4	4089	hgsc.bcm.edu	37	18	48591866	48591866	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr18:48591866A>G	ENST00000342988.3	+	9	1567	c.1029A>G	c.(1027-1029)tcA>tcG	p.S343S	SMAD4_ENST00000588745.1_Silent_p.S247S|SMAD4_ENST00000398417.2_Silent_p.S343S	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	343	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.F339_S343del(2)|p.?(2)|p.S344fs*41(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGGTTCCTTCAAGCTGCCCTA	0.433																																																	41	Whole gene deletion(36)|Deletion - In frame(2)|Unknown(2)|Insertion - Frameshift(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18											257.0	220.0	232.0					18																	48591866		2203	4300	6503	46845864	SO:0001819	synonymous_variant	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1029A>G	18.37:g.48591866A>G		Somatic		Capture	Illumina HiSeq	Phase_I	46845864	A8K405	Silent	SNP	ENST00000342988.3	37	CCDS11950.1																																																																																				SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
IL17RC	84818	hgsc.bcm.edu	37	3	9970142	9970142	+	Missense_Mutation	SNP	C	C	T	rs151311782		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:9970142C>T	ENST00000295981.3	+	11	1462	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	IL17RC_ENST00000413608.1_Missense_Mutation_p.P344L|IL17RC_ENST00000455057.1_Missense_Mutation_p.P329L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.P344L|IL17RC_ENST00000416074.2_Missense_Mutation_p.P200L|IL17RC_ENST00000383812.4_Missense_Mutation_p.P329L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	415					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGGTCCCACCGCTTTCCTGG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15542	0.001		0.0	False		,,,				2504	0.0																0			3						C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	52.0	61.0	58.0		1031,1031,986,986,1031,1244	1.7	0.0	3	dbSNP_134	58	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	98,98,98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	344/708,344/691,329/689,329/706,344/721,415/792	9970142	1,13005	2203	4300	6503	9945142	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1244C>T	3.37:g.9970142C>T	ENSP00000295981:p.Pro415Leu	Somatic		Capture	Illumina HiSeq	Phase_I	9945142	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559297	0.27827	2.27E-4	0.0	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.0	1.73	0.24493	.	0.415062	0.20560	N	0.089932	T	0.31482	0.0798	M	0.61703	1.905	0.09310	N	0.999999	B;D;B;B;D;D;B;D;D	0.89917	0.095;0.999;0.033;0.033;1.0;1.0;0.055;1.0;1.0	B;P;B;B;D;D;B;D;D	0.87578	0.029;0.876;0.005;0.005;0.933;0.933;0.011;0.998;0.97	T	0.04454	-1.0950	10	0.72032	D	0.01	-14.4235	4.6959	0.12804	0.3697:0.5191:0.0:0.1112	.	329;200;329;344;344;344;329;415;344	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	L	329;304;415;319;344;200;329;344	ENSP00000373323:P329L;ENSP00000414609:P304L;ENSP00000295981:P415L;ENSP00000401128:P319L;ENSP00000384969:P344L;ENSP00000395315:P200L;ENSP00000407894:P329L;ENSP00000396064:P344L	ENSP00000295981:P415L	P	+	2	0	IL17RC	9945142	0.000000	0.05858	0.010000	0.14722	0.017000	0.09413	-0.075000	0.11431	0.511000	0.28236	-0.378000	0.06908	CCG		IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732	
VHL	7428	hgsc.bcm.edu	37	3	10191594	10191594	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:10191594A>G	ENST00000256474.2	+	3	1427	c.587A>G	c.(586-588)aAa>aGa	p.K196R	VHL_ENST00000345392.2_Missense_Mutation_p.K155R|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	196					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.K196fs*18(2)|p.P192fs*3(1)|p.N193fs*>16(1)|p.K196fs*4(1)|p.K196fs*17(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATGTGCAGAAAGACCTGGAG	0.498		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	6	Deletion - Frameshift(6)	kidney(6)	3											72.0	65.0	68.0					3																	10191594		2203	4300	6503	10166594	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.587A>G	3.37:g.10191594A>G	ENSP00000256474:p.Lys196Arg	Somatic		Capture	Illumina HiSeq	Phase_I	10166594	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785064	0.90282	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99815	-6.9;-6.9	4.97	4.97	0.65823	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.170647	0.50627	D	0.000101	D	0.99518	0.9828	L	0.41236	1.265	0.37190	D	0.90387	D;D	0.64830	0.994;0.983	D;P	0.63703	0.917;0.775	D	0.98306	1.0521	10	0.44086	T	0.13	-2.7872	12.9354	0.58311	1.0:0.0:0.0:0.0	.	155;196	P40337-2;P40337	.;VHL_HUMAN	R	196;155;114	ENSP00000256474:K196R;ENSP00000344757:K155R	ENSP00000256474:K196R	K	+	2	0	VHL	10166594	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	3.954000	0.56708	2.209000	0.71365	0.533000	0.62120	AAA		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
FGD5	152273	hgsc.bcm.edu	37	3	14861729	14861729	+	Missense_Mutation	SNP	C	C	T	rs374659688		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:14861729C>T	ENST00000285046.5	+	1	1261	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	FGD5_ENST00000543601.1_Missense_Mutation_p.A143V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	384					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGCTGCGTGCGGAGGAGAAC	0.602																																																	0			3						C	VAL/ALA	0,3858		0,0,1929	36.0	39.0	38.0		1151	-0.1	0.0	3		38	1,8273		0,1,4136	no	missense	FGD5	NM_152536.3	64	0,1,6065	TT,TC,CC		0.0121,0.0,0.0082	benign	384/1463	14861729	1,12131	1929	4137	6066	14836733	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1151C>T	3.37:g.14861729C>T	ENSP00000285046:p.Ala384Val	Somatic		Capture	Illumina HiSeq	Phase_I	14836733	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	8.526	0.869910	0.17322	0.0	1.21E-4	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.74947	-0.89;-0.74	4.52	-0.0954	0.13641	.	1.151570	0.06481	N	0.732823	T	0.50633	0.1627	N	0.11560	0.145	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.04013	0.001;0.001	T	0.28681	-1.0036	10	0.18276	T	0.48	-2.3995	4.6679	0.12675	0.1779:0.4198:0.0:0.4022	.	143;384	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	V	384;143	ENSP00000285046:A384V;ENSP00000445949:A143V	ENSP00000285046:A384V	A	+	2	0	FGD5	14836733	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.925000	0.03992	0.037000	0.15575	0.491000	0.48974	GCG		FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
FGD5	152273	hgsc.bcm.edu	37	3	14862025	14862025	+	Missense_Mutation	SNP	C	C	T	rs560710091		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:14862025C>T	ENST00000285046.5	+	1	1557	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	FGD5_ENST00000543601.1_Missense_Mutation_p.R242W	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	483					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACGAGGGTCCGGCCCCACTC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.001		0.0	False		,,,				2504	0.0																0			3											43.0	48.0	46.0					3																	14862025		1964	4138	6102	14837029	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1447C>T	3.37:g.14862025C>T	ENSP00000285046:p.Arg483Trp	Somatic		Capture	Illumina HiSeq	Phase_I	14837029	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541270	0.27563	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	D;T	0.82344	-1.6;-1.37	4.86	2.96	0.34315	.	0.000000	0.49916	D	0.000123	T	0.78355	0.4270	M	0.73598	2.24	0.44918	D	0.997937	P;P	0.50066	0.707;0.931	B;B	0.38428	0.102;0.273	T	0.76061	-0.3097	10	0.87932	D	0	-17.4118	7.1843	0.25791	0.5161:0.3989:0.0:0.085	.	242;483	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	W	483;242	ENSP00000285046:R483W;ENSP00000445949:R242W	ENSP00000285046:R483W	R	+	1	2	FGD5	14837029	0.995000	0.38212	0.526000	0.27913	0.025000	0.11179	0.681000	0.25320	0.401000	0.25424	0.650000	0.86243	CGG		FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
KCNH8	131096	hgsc.bcm.edu	37	3	19436738	19436738	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:19436738C>T	ENST00000328405.2	+	7	1378	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	KCNH8_ENST00000537696.1_Missense_Mutation_p.A12V|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	371					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CACTGGATGGCGTGTATCTGG	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)												0			3											174.0	148.0	157.0					3																	19436738		2203	4300	6503	19411742	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1112C>T	3.37:g.19436738C>T	ENSP00000328813:p.Ala371Val	Somatic		Capture	Illumina HiSeq	Phase_I	19411742	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661999	0.96734	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.98666	-5.06;1.36	5.79	5.79	0.91817	Ion transport (1);	0.000000	0.31358	U	0.007786	D	0.99363	0.9776	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99004	1.0812	9	.	.	.	.	20.0326	0.97545	0.0:1.0:0.0:0.0	.	12;371;371	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	V	371;12	ENSP00000328813:A371V;ENSP00000446294:A12V	.	A	+	2	0	KCNH8	19411742	1.000000	0.71417	0.985000	0.45067	0.923000	0.55619	7.818000	0.86416	2.732000	0.93576	0.557000	0.71058	GCG		KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266114	41266114	+	Silent	SNP	T	T	C	rs121913416		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:41266114T>C	ENST00000349496.5	+	3	391	c.111T>C	c.(109-111)tcT>tcC	p.S37S	CTNNB1_ENST00000405570.1_Silent_p.S37S|CTNNB1_ENST00000396185.3_Silent_p.S37S|CTNNB1_ENST00000453024.1_Silent_p.S30S|CTNNB1_ENST00000396183.3_Silent_p.S37S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S37S(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.S37_A39>S(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GAATCCATTCTGGTGCCACTA	0.498		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	132	Deletion - In frame(102)|Complex - deletion inframe(19)|Unknown(7)|Deletion - Frameshift(3)|Substitution - coding silent(1)	liver(98)|large_intestine(19)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|kidney(1)	3											92.0	78.0	82.0					3																	41266114		2203	4300	6503	41241118	SO:0001819	synonymous_variant	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.111T>C	3.37:g.41266114T>C		Somatic		Capture	Illumina HiSeq	Phase_I	41241118	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																				CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266142	41266142	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:41266142A>G	ENST00000349496.5	+	3	419	c.139A>G	c.(139-141)Agt>Ggt	p.S47G	CTNNB1_ENST00000405570.1_Missense_Mutation_p.S47G|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S47G|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S40G|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S47G	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	47					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.L46_S47del(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S47G(1)|p.H24_M131del(1)|p.S47C(1)|p.A21_A80del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCCTTCTCTGAGTGGTAAAGG	0.498		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	124	Deletion - In frame(95)|Complex - deletion inframe(20)|Unknown(7)|Substitution - Missense(2)	liver(89)|large_intestine(16)|stomach(7)|adrenal_gland(3)|soft_tissue(2)|small_intestine(2)|skin(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	3											81.0	72.0	75.0					3																	41266142		2203	4300	6503	41241146	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.139A>G	3.37:g.41266142A>G	ENSP00000344456:p.Ser47Gly	Somatic		Capture	Illumina HiSeq	Phase_I	41241146	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752623	0.69533	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	L	0.59436	1.845	0.80722	D	1	B	0.23442	0.085	B	0.25291	0.059	T	0.48080	-0.9066	10	0.87932	D	0	-16.8827	16.3453	0.83126	1.0:0.0:0.0:0.0	.	47	P35222	CTNB1_HUMAN	G	40;47;47;47;47;40;47;47;47	ENSP00000400508:S40G;ENSP00000385604:S47G;ENSP00000412219:S47G;ENSP00000379486:S47G;ENSP00000344456:S47G;ENSP00000411226:S40G;ENSP00000379488:S47G;ENSP00000409302:S47G;ENSP00000401599:S47G	ENSP00000344456:S47G	S	+	1	0	CTNNB1	41241146	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	AGT		CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
PLA1A	51365	hgsc.bcm.edu	37	3	119327670	119327670	+	Missense_Mutation	SNP	G	G	A	rs61733987	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:119327670G>A	ENST00000273371.4	+	3	401	c.329G>A	c.(328-330)cGt>cAt	p.R110H	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.R94H|PLA1A_ENST00000495992.1_Missense_Mutation_p.R110H	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	110			R -> H (in dbSNP:rs61733987). {ECO:0000269|PubMed:12436198}.		lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCCTTCTGCGTGCAACGAAT	0.438													G|||	77	0.0153754	0.0091	0.0288	5008	,	,		21644	0.002		0.0239	False		,,,				2504	0.0194																0			3						G	HIS/ARG,,HIS/ARG	40,4366	43.8+/-77.6	1,38,2164	180.0	179.0	179.0		329,,329	-7.8	0.0	3	dbSNP_129	179	258,8342	100.6+/-161.9	6,246,4048	yes	missense,utr-5,missense	PLA1A	NM_001206960.1,NM_001206961.1,NM_015900.3	29,,29	7,284,6212	AA,AG,GG		3.0,0.9079,2.2913	possibly-damaging,,possibly-damaging	110/441,,110/457	119327670	298,12708	2203	4300	6503	120810360	SO:0001583	missense	51365			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.329G>A	3.37:g.119327670G>A	ENSP00000273371:p.Arg110His	Somatic		Capture	Illumina HiSeq	Phase_I	120810360	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	CCDS2991.1	35	0.016025641025641024	4	0.008130081300813009	12	0.03314917127071823	0	0.0	19	0.025065963060686015	G	1.976	-0.435335	0.04669	0.009079	0.03	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91295	-2.71;-2.82;-2.71	5.17	-7.8	0.01214	Lipase, N-terminal (1);	0.896444	0.09888	N	0.742779	T	0.69351	0.3101	L	0.54863	1.705	0.18873	N	0.999985	B;B	0.19583	0.037;0.003	B;B	0.11329	0.006;0.004	T	0.61773	-0.6994	10	0.37606	T	0.19	-0.1671	11.6367	0.51209	0.679:0.0:0.2269:0.0941	rs61733987	110;110	Q53H76-3;Q53H76	.;PLA1A_HUMAN	H	110;110;94	ENSP00000273371:R110H;ENSP00000417326:R110H;ENSP00000418793:R94H	ENSP00000273371:R110H	R	+	2	0	PLA1A	120810360	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.684000	0.05173	-2.554000	0.00477	-1.325000	0.01285	CGT		PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
GOLGB1	2804	hgsc.bcm.edu	37	3	121416549	121416549	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:121416549T>C	ENST00000340645.5	-	13	2931	c.2806A>G	c.(2806-2808)Aat>Gat	p.N936D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.N941D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	936					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GATAATAAATTTAGCTGTTCT	0.363																																																	0			3											87.0	97.0	93.0					3																	121416549		2203	4298	6501	122899239	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2806A>G	3.37:g.121416549T>C	ENSP00000341848:p.Asn936Asp	Somatic		Capture	Illumina HiSeq	Phase_I	122899239	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022651	0.35701	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.24350	2.45;2.45;1.86	5.35	5.35	0.76521	.	0.167956	0.42294	D	0.000725	T	0.27384	0.0672	L	0.47716	1.5	0.31180	N	0.702217	P;P;P;P;P	0.49559	0.571;0.925;0.873;0.925;0.629	B;P;B;P;B	0.47162	0.229;0.54;0.291;0.54;0.213	T	0.10917	-1.0609	10	0.13853	T	0.58	.	13.3329	0.60500	0.0:0.0:0.0:1.0	.	861;900;941;941;936	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	D	936;941;900;748	ENSP00000341848:N936D;ENSP00000377275:N941D;ENSP00000418231:N900D	ENSP00000341848:N936D	N	-	1	0	GOLGB1	122899239	0.860000	0.29831	0.994000	0.49952	0.972000	0.66771	3.547000	0.53663	2.244000	0.73946	0.533000	0.62120	AAT		GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
ERICH6	131831	hgsc.bcm.edu	37	3	150403601	150403601	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:150403601C>T	ENST00000295910.6	-	6	763	c.711G>A	c.(709-711)acG>acA	p.T237T	FAM194A_ENST00000491361.1_Silent_p.T91T	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGCTGGGTAACGTTCTTAGAG	0.373																																																	0			3											120.0	112.0	115.0					3																	150403601		2203	4300	6503	151886291	SO:0001819	synonymous_variant	0																														ENST00000295910.6:c.711G>A	3.37:g.150403601C>T		Somatic		Capture	Illumina HiSeq	Phase_I	151886291		Silent	SNP	ENST00000295910.6	37	CCDS3151.2																																																																																				FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1		
EHHADH	1962	hgsc.bcm.edu	37	3	184910746	184910746	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:184910746C>T	ENST00000231887.3	-	7	1515	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Silent_p.V384V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	480	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.V480V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTCGATTCCCCACAAATCCAA	0.413																																																	1	Substitution - coding silent(1)	ovary(1)	3											108.0	109.0	109.0					3																	184910746		2203	4300	6503	186393440	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1440G>A	3.37:g.184910746C>T		Somatic		Capture	Illumina HiSeq	Phase_I	186393440	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	ENST00000231887.3	37	CCDS33901.1																																																																																				EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
KRT85	3891	hgsc.bcm.edu	37	12	52761098	52761098	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr12:52761098C>T	ENST00000257901.3	-	1	167	c.92G>A	c.(91-93)cGc>cAc	p.R31H	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	31	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GATGCAGCAGCGGTTGCCAGT	0.672																																																	0			12											27.0	29.0	28.0					12																	52761098		2203	4300	6503	51047365	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.92G>A	12.37:g.52761098C>T	ENSP00000257901:p.Arg31His	Somatic		Capture	Illumina HiSeq	Phase_I	51047365	Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995596	0.35226	.	.	ENSG00000135443	ENST00000257901	D	0.82893	-1.66	4.63	4.63	0.57726	.	0.000000	0.56097	D	0.000029	T	0.77212	0.4097	L	0.38953	1.18	0.80722	D	1	B	0.14438	0.01	B	0.15052	0.012	T	0.71626	-0.4536	10	0.30854	T	0.27	.	18.0305	0.89282	0.0:1.0:0.0:0.0	.	31	P78386	KRT85_HUMAN	H	31	ENSP00000257901:R31H	ENSP00000257901:R31H	R	-	2	0	KRT85	51047365	0.265000	0.24102	1.000000	0.80357	0.950000	0.60333	2.165000	0.42396	2.548000	0.85928	0.561000	0.74099	CGC		KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283	
UTP20	27340	hgsc.bcm.edu	37	12	101745882	101745882	+	Missense_Mutation	SNP	A	A	G	rs140657361	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr12:101745882A>G	ENST00000261637.4	+	39	5108	c.4934A>G	c.(4933-4935)aAa>aGa	p.K1645R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1645			K -> I (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.K1645I(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCCATTTGCAAACATCTCTCT	0.363																																																	1	Substitution - Missense(1)	breast(1)	12											141.0	138.0	139.0					12																	101745882		2203	4300	6503	100270013	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4934A>G	12.37:g.101745882A>G	ENSP00000261637:p.Lys1645Arg	Somatic		Capture	Illumina HiSeq	Phase_I	100270013	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	6.509	0.462068	0.12342	.	.	ENSG00000120800	ENST00000261637	T	0.63913	-0.07	5.84	-4.48	0.03515	Armadillo-type fold (1);	0.385429	0.30219	N	0.010136	T	0.22322	0.0538	N	0.00972	-1.085	0.23454	N	0.997649	B	0.02656	0.0	B	0.01281	0.0	T	0.42189	-0.9466	10	0.06365	T	0.9	-5.1064	12.194	0.54286	0.2276:0.1101:0.6623:0.0	.	1645	O75691	UTP20_HUMAN	R	1645	ENSP00000261637:K1645R	ENSP00000261637:K1645R	K	+	2	0	UTP20	100270013	0.481000	0.25941	0.965000	0.40720	0.953000	0.61014	0.551000	0.23361	-0.341000	0.08376	-0.250000	0.11733	AAA		UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
CRY1	1407	hgsc.bcm.edu	37	12	107393837	107393837	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr12:107393837T>C	ENST00000008527.5	-	6	1575	c.708A>G	c.(706-708)agA>agG	p.R236R		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	236					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.R236R(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCATTCGAGGTCTTTCAAAAT	0.353																																																	1	Substitution - coding silent(1)	ovary(1)	12											73.0	74.0	74.0					12																	107393837		2203	4300	6503	105917967	SO:0001819	synonymous_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.708A>G	12.37:g.107393837T>C		Somatic		Capture	Illumina HiSeq	Phase_I	105917967		Silent	SNP	ENST00000008527.5	37	CCDS9112.1																																																																																				CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
TMEM132C	92293	hgsc.bcm.edu	37	12	129190736	129190736	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr12:129190736G>A	ENST00000435159.2	+	9	3223	c.3223G>A	c.(3223-3225)Gtc>Atc	p.V1075I	TMEM132C_ENST00000315208.8_Missense_Mutation_p.V691I|TMEM132C_ENST00000537538.1_Missense_Mutation_p.V460I	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	1075						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GAACTCCATCGTCAGCAGCAA	0.542																																																	0			12											60.0	60.0	60.0					12																	129190736		692	1591	2283	127756689	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.3223G>A	12.37:g.129190736G>A	ENSP00000410852:p.Val1075Ile	Somatic		Capture	Illumina HiSeq	Phase_I	127756689	Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37		.	.	.	.	.	.	.	.	.	.	G	7.249	0.602881	0.13939	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.09630	3.77;3.42;2.96	4.19	-0.382	0.12481	.	0.849158	0.09856	N	0.746873	T	0.05181	0.0138	N	0.04636	-0.2	0.09310	N	0.999997	B	0.23316	0.083	B	0.14578	0.011	T	0.41179	-0.9523	10	0.31617	T	0.26	.	11.9154	0.52763	0.1191:0.3423:0.5386:0.0	.	1075	Q8N3T6	T132C_HUMAN	I	1075;691;460	ENSP00000410852:V1075I;ENSP00000324458:V691I;ENSP00000438477:V460I	ENSP00000324458:V691I	V	+	1	0	TMEM132C	127756689	0.993000	0.37304	0.695000	0.30226	0.343000	0.28985	1.021000	0.30040	0.104000	0.17725	-0.304000	0.09214	GTC		TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062	
LRRC57	255252	hgsc.bcm.edu	37	15	42839667	42839667	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:42839667T>C	ENST00000323443.2	-	3	651	c.284A>G	c.(283-285)aAt>aGt	p.N95S	LRRC57_ENST00000397130.3_Missense_Mutation_p.N95S|LRRC57_ENST00000563454.1_Missense_Mutation_p.N95S|HAUS2_ENST00000568876.1_5'Flank|HAUS2_ENST00000260372.3_5'Flank|HAUS2_ENST00000568846.2_5'Flank			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	95						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TCTAAGGTGATTGTTGTTTAG	0.448																																																	0			15											93.0	87.0	89.0					15																	42839667		2203	4299	6502	40626959	SO:0001583	missense	255252			AK094891	CCDS10089.1	15q15.1	2006-02-13			ENSG00000180979	ENSG00000180979			26719	protein-coding gene	gene with protein product							Standard	NM_153260		Approved	FLJ36812	uc001zqc.3	Q8N9N7	OTTHUMG00000130679	ENST00000323443.2:c.284A>G	15.37:g.42839667T>C	ENSP00000326817:p.Asn95Ser	Somatic		Capture	Illumina HiSeq	Phase_I	40626959	Q7Z2Z6|Q8N1T6	Missense_Mutation	SNP	ENST00000323443.2	37	CCDS10089.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146713	0.77888	.	.	ENSG00000180979	ENST00000323443;ENST00000397130	T;T	0.72615	-0.67;-0.67	5.63	4.44	0.53790	.	0.042164	0.85682	D	0.000000	T	0.80093	0.4560	M	0.85777	2.775	0.80722	D	1	P	0.52692	0.955	P	0.52424	0.698	D	0.84036	0.0362	10	0.87932	D	0	.	12.6822	0.56928	0.0:0.0:0.1374:0.8626	.	95	Q8N9N7	LRC57_HUMAN	S	95	ENSP00000326817:N95S;ENSP00000380319:N95S	ENSP00000326817:N95S	N	-	2	0	LRRC57	40626959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.791000	0.69045	2.281000	0.76405	0.533000	0.62120	AAT		LRRC57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253174.1	NM_153260	
MYO5C	55930	hgsc.bcm.edu	37	15	52517287	52517287	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:52517287T>C	ENST00000261839.7	-	27	3511	c.3350A>G	c.(3349-3351)gAa>gGa	p.E1117G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1117						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTTACATCTTCAATGTCATA	0.318																																																	0			15											138.0	121.0	127.0					15																	52517287		1848	4092	5940	50304579	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3350A>G	15.37:g.52517287T>C	ENSP00000261839:p.Glu1117Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50304579	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.531660	0.45073	.	.	ENSG00000128833	ENST00000261839	T	0.17691	2.26	5.89	4.75	0.60458	.	0.185758	0.44688	D	0.000427	T	0.12689	0.0308	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04522	-1.0945	10	0.41790	T	0.15	.	12.5123	0.56013	0.0:0.0:0.2631:0.7369	.	1117	Q9NQX4	MYO5C_HUMAN	G	1117	ENSP00000261839:E1117G	ENSP00000261839:E1117G	E	-	2	0	MYO5C	50304579	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.258000	0.51507	1.021000	0.39600	0.533000	0.62120	GAA		MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
TBC1D21	161514	hgsc.bcm.edu	37	15	74178503	74178503	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:74178503G>A	ENST00000300504.2	+	7	747	c.664G>A	c.(664-666)Gct>Act	p.A222T	TBC1D21_ENST00000562056.1_Missense_Mutation_p.A185T|TBC1D21_ENST00000535547.2_Missense_Mutation_p.A186T	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	222	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.A222P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCCCGTGTTTGCTGAGCACCT	0.592																																																	1	Substitution - Missense(1)	ovary(1)	15											186.0	128.0	148.0					15																	74178503		2198	4297	6495	71965556	SO:0001583	missense	161514			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.664G>A	15.37:g.74178503G>A	ENSP00000300504:p.Ala222Thr	Somatic		Capture	Illumina HiSeq	Phase_I	71965556	B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957521	0.53400	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.22743	1.94;1.94	4.78	4.78	0.61160	Rab-GAP/TBC domain (5);	0.000000	0.52532	D	0.000078	T	0.19565	0.0470	L	0.29908	0.895	0.39627	D	0.97012	P;B	0.40398	0.716;0.124	B;B	0.44133	0.442;0.19	T	0.04347	-1.0958	10	0.24483	T	0.36	.	13.6457	0.62279	0.0:0.0:1.0:0.0	.	186;222	B9A6M2;Q8IYX1	.;TBC21_HUMAN	T	222;186	ENSP00000300504:A222T;ENSP00000439325:A186T	ENSP00000300504:A222T	A	+	1	0	TBC1D21	71965556	1.000000	0.71417	0.987000	0.45799	0.820000	0.46376	1.798000	0.38814	2.371000	0.80710	0.536000	0.68110	GCT		TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356	
SCAPER	49855	hgsc.bcm.edu	37	15	77057314	77057314	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:77057314T>C	ENST00000563290.1	-	14	1808	c.1713A>G	c.(1711-1713)aaA>aaG	p.K571K	SCAPER_ENST00000538941.2_Silent_p.K325K|SCAPER_ENST00000324767.7_Silent_p.K571K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	571	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTTCTAACAATTTCTGAAGCT	0.343																																																	0			15											79.0	69.0	72.0					15																	77057314		1794	4054	5848	74844369	SO:0001819	synonymous_variant	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1713A>G	15.37:g.77057314T>C		Somatic		Capture	Illumina HiSeq	Phase_I	74844369	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	CCDS53962.1																																																																																				SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
IQGAP1	8826	hgsc.bcm.edu	37	15	91017007	91017007	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:91017007T>C	ENST00000268182.5	+	20	2534	c.2410T>C	c.(2410-2412)Tcc>Ccc	p.S804P	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S232P	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	804	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTACCTGCGCTCCCACAAAGA	0.433																																																	0			15											95.0	84.0	88.0					15																	91017007		2198	4298	6496	88818011	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2410T>C	15.37:g.91017007T>C	ENSP00000268182:p.Ser804Pro	Somatic		Capture	Illumina HiSeq	Phase_I	88818011	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148181	0.37923	.	.	ENSG00000140575	ENST00000268182	D	0.95238	-3.65	5.91	0.468	0.16732	.	0.298649	0.32357	N	0.006218	D	0.89354	0.6691	L	0.27053	0.805	0.28569	N	0.910734	B	0.26744	0.158	B	0.27262	0.078	T	0.78342	-0.2241	10	0.31617	T	0.26	-5.5698	16.4491	0.83973	0.0:0.0:0.7237:0.2762	.	804	P46940	IQGA1_HUMAN	P	804	ENSP00000268182:S804P	ENSP00000268182:S804P	S	+	1	0	IQGAP1	88818011	1.000000	0.71417	0.981000	0.43875	0.634000	0.38068	3.279000	0.51670	0.096000	0.17463	0.533000	0.62120	TCC		IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
IQGAP1	8826	hgsc.bcm.edu	37	15	91026787	91026787	+	Silent	SNP	C	C	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:91026787C>A	ENST00000268182.5	+	29	3874	c.3750C>A	c.(3748-3750)atC>atA	p.I1250I	IQGAP1_ENST00000560738.1_Silent_p.I678I	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1250	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ACTTAAGCATCATTAATGAAT	0.423																																																	0			15											81.0	76.0	78.0					15																	91026787		2198	4298	6496	88827791	SO:0001819	synonymous_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3750C>A	15.37:g.91026787C>A		Somatic		Capture	Illumina HiSeq	Phase_I	88827791	A7MBM3	Silent	SNP	ENST00000268182.5	37	CCDS10362.1																																																																																				IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
LRRK1	79705	hgsc.bcm.edu	37	15	101566295	101566295	+	Silent	SNP	C	C	T	rs370178353		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr15:101566295C>T	ENST00000388948.3	+	17	2717	c.2358C>T	c.(2356-2358)tcC>tcT	p.S786S	LRRK1_ENST00000284395.5_Silent_p.S783S	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTCCCCCTCCGGCTCCAGGG	0.597																																																	0			15						T		1,4205		0,1,2102	65.0	74.0	71.0		2358	-9.4	0.0	15		71	0,8444		0,0,4222	no	coding-synonymous	LRRK1	NM_024652.3		0,1,6324	TT,TC,CC		0.0,0.0238,0.0079		786/2016	101566295	1,12649	2103	4222	6325	99383818	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2358C>T	15.37:g.101566295C>T		Somatic		Capture	Illumina HiSeq	Phase_I	99383818		Silent	SNP	ENST00000388948.3	37	CCDS42086.1																																																																																				LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
TLR8	51311	hgsc.bcm.edu	37	X	12938160	12938160	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:12938160C>T	ENST00000218032.6	+	2	1088	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TLR8_ENST00000311912.5_Missense_Mutation_p.T352M	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	334					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GCATTTTTAACGATGCTGCCC	0.368																																																	0			X											68.0	71.0	70.0					X																	12938160		2200	4294	6494	12848081	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1001C>T	X.37:g.12938160C>T	ENSP00000218032:p.Thr334Met	Somatic		Capture	Illumina HiSeq	Phase_I	12848081	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	7.186	0.590625	0.13812	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00995	5.46;5.46	5.29	2.52	0.30459	.	0.183248	0.26297	N	0.025182	T	0.02888	0.0086	M	0.80508	2.5	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.58577	0.841;0.841	T	0.38001	-0.9681	10	0.36615	T	0.2	.	4.1868	0.10402	0.2246:0.4626:0.0:0.3127	.	334;352	Q9NR97;D1CS70	TLR8_HUMAN;.	M	334;352	ENSP00000218032:T334M;ENSP00000312082:T352M	ENSP00000218032:T334M	T	+	2	0	TLR8	12848081	0.000000	0.05858	0.030000	0.17652	0.151000	0.21798	-0.613000	0.05610	0.542000	0.28846	-0.192000	0.12808	ACG		TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
SYTL5	94122	hgsc.bcm.edu	37	X	37893211	37893211	+	Silent	SNP	C	C	T	rs73632432	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:37893211C>T	ENST00000357972.5	+	2	615	c.69C>T	c.(67-69)ggC>ggT	p.G23G	SYTL5_ENST00000456733.2_Silent_p.G23G|SYTL5_ENST00000297875.2_Silent_p.G23G|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	23	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGATCCTGGGCGTCCTAAAGA	0.373													c|||	14	0.00370861	0.0106	0.0	3775	,	,		15299	0.0		0.0	False		,,,				2504	0.0																0			X						T	,,	43,3790		0,32,11,1599,560	76.0	68.0	70.0		69,69,69	0.5	1.0	X	dbSNP_130	70	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	SYTL5	NM_001163334.1,NM_001163335.1,NM_138780.2	,,	0,32,11,4027,2432	TT,TC,T,CC,C		0.0,1.1218,0.4072	,,	23/753,23/731,23/731	37893211	43,10518	2202	4300	6502	37778155	SO:0001819	synonymous_variant	94122				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.69C>T	X.37:g.37893211C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37778155	A2RRF2	Silent	SNP	ENST00000357972.5	37	CCDS14244.1																																																																																				SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
WDR13	64743	hgsc.bcm.edu	37	X	48457274	48457274	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:48457274G>A	ENST00000218056.5	+	2	716	c.211G>A	c.(211-213)Gag>Aag	p.E71K	WDR13_ENST00000376729.5_Missense_Mutation_p.E71K|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	71						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCCCCTCTCCGAGCCAGGCAG	0.672																																																	0			X											24.0	19.0	21.0					X																	48457274		2203	4296	6499	48342218	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.211G>A	X.37:g.48457274G>A	ENSP00000218056:p.Glu71Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48342218	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800191	0.70567	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.73789	-0.78;-0.78	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.65498	2.005	0.58432	D	0.999999	P	0.50710	0.938	B	0.32465	0.146	T	0.66492	-0.5910	10	0.16896	T	0.51	-11.6698	13.6403	0.62246	0.0:0.0:1.0:0.0	.	71	Q9H1Z4	WDR13_HUMAN	K	71	ENSP00000365919:E71K;ENSP00000218056:E71K	ENSP00000218056:E71K	E	+	1	0	WDR13	48342218	1.000000	0.71417	0.774000	0.31636	0.955000	0.61496	8.822000	0.92013	2.081000	0.62600	0.523000	0.50628	GAG		WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2		
WNK3	65267	hgsc.bcm.edu	37	X	54265376	54265376	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:54265376T>C	ENST00000375159.2	-	17	3807	c.3808A>G	c.(3808-3810)Act>Gct	p.T1270A	WNK3_ENST00000375169.3_Intron|WNK3_ENST00000354646.2_Missense_Mutation_p.T1270A			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1270					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AATTTGCGAGTCCAGGATTTC	0.453																																																	0			X											80.0	70.0	73.0					X																	54265376		2203	4300	6503	54282101	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3808A>G	X.37:g.54265376T>C	ENSP00000364301:p.Thr1270Ala	Somatic		Capture	Illumina HiSeq	Phase_I	54282101	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810068	0.32053	.	.	ENSG00000196632	ENST00000354646;ENST00000375159	T;T	0.74002	-0.8;-0.8	5.02	5.02	0.67125	.	0.126294	0.34986	N	0.003534	T	0.55497	0.1924	N	0.19112	0.55	0.30162	N	0.802128	B	0.23891	0.093	B	0.21917	0.037	T	0.50972	-0.8764	10	0.19147	T	0.46	-9.9764	7.7853	0.29089	0.0:0.0976:0.0:0.9024	.	1270	Q9BYP7	WNK3_HUMAN	A	1270	ENSP00000346667:T1270A;ENSP00000364301:T1270A	ENSP00000346667:T1270A	T	-	1	0	WNK3	54282101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.208000	0.65203	1.672000	0.50884	0.437000	0.28790	ACT		WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
SLC16A2	6567	hgsc.bcm.edu	37	X	73751291	73751291	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:73751291A>G	ENST00000587091.1	+	6	1700	c.1523A>G	c.(1522-1524)gAg>gGg	p.E508G	SLC16A2_ENST00000276033.5_Missense_Mutation_p.E582G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	508					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTCAAGAAAGAGCAGAGAGAT	0.547																																																	0			X											106.0	92.0	97.0					X																	73751291		2203	4300	6503	73668016	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1523A>G	X.37:g.73751291A>G	ENSP00000465734:p.Glu508Gly	Somatic		Capture	Illumina HiSeq	Phase_I	73668016	Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008991	0.35415	.	.	ENSG00000147100	ENST00000276033	T	0.11712	2.75	5.3	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775103	0.12099	N	0.499630	T	0.07728	0.0194	N	0.17082	0.46	0.30984	N	0.722118	B	0.12013	0.005	B	0.15052	0.012	T	0.05903	-1.0857	10	0.45353	T	0.12	.	9.7488	0.40464	0.9179:0.0:0.0821:0.0	.	508	P36021	MOT8_HUMAN	G	582	ENSP00000276033:E582G	ENSP00000276033:E582G	E	+	2	0	SLC16A2	73668016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.510000	0.60455	1.770000	0.52166	0.430000	0.28490	GAG		SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		
TENM1	10178	hgsc.bcm.edu	37	X	124029955	124029955	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:124029955T>C	ENST00000371130.3	-	2	416	c.353A>G	c.(352-354)gAc>gGc	p.D118G	TENM1_ENST00000422452.2_Missense_Mutation_p.D118G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	118	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TAGTGCATGGTCAGGTGAGGC	0.502																																																	0			X											277.0	225.0	242.0					X																	124029955		2203	4300	6503	123857636	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.353A>G	X.37:g.124029955T>C	ENSP00000360171:p.Asp118Gly	Somatic		Capture	Illumina HiSeq	Phase_I	123857636	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665041	0.47677	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.30714	1.52;1.52	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.240686	0.33309	N	0.005054	T	0.25082	0.0609	N	0.22421	0.69	0.44789	D	0.997792	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.22152	0.038;0.038;0.038	T	0.04178	-1.0971	10	0.72032	D	0.01	.	14.9145	0.70785	0.0:0.0:0.0:1.0	.	118;118;118	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	118	ENSP00000360171:D118G;ENSP00000403954:D118G	ENSP00000360171:D118G	D	-	2	0	ODZ1	123857636	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	3.853000	0.55941	1.972000	0.57404	0.486000	0.48141	GAC		TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
GPR112	139378	hgsc.bcm.edu	37	X	135427606	135427606	+	Missense_Mutation	SNP	C	C	T	rs151008495	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:135427606C>T	ENST00000394143.1	+	6	2032	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	GPR112_ENST00000412101.1_Missense_Mutation_p.R376C|GPR112_ENST00000394141.1_Missense_Mutation_p.R376C|GPR112_ENST00000370652.1_Missense_Mutation_p.R581C|GPR112_ENST00000287534.4_Missense_Mutation_p.R518C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	581					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAAGCTACACGTACAGCCTT	0.428																																																	0			X							CYS/ARG	2,3833		0,2,0,1630,571	105.0	84.0	91.0		1741	-3.5	0.0	X	dbSNP_134	91	7,6721		0,5,2,2423,1870	yes	missense	GPR112	NM_153834.3	180	0,7,2,4053,2441	TT,TC,T,CC,C		0.104,0.0522,0.0852	benign	581/3081	135427606	9,10554	2203	4300	6503	135255272	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1741C>T	X.37:g.135427606C>T	ENSP00000377699:p.Arg581Cys	Somatic		Capture	Illumina HiSeq	Phase_I	135255272	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	8.639	0.895545	0.17686	5.22E-4	0.00104	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32023	1.5;1.5;1.47;1.61;1.47	3.56	-3.46	0.04767	.	.	.	.	.	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	P;B;B	0.39748	0.686;0.067;0.277	B;B;B	0.17098	0.017;0.004;0.005	T	0.16100	-1.0414	9	0.54805	T	0.06	.	3.2266	0.06734	0.3175:0.2416:0.0:0.4409	.	518;376;581	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	581;581;376;518;376	ENSP00000377699:R581C;ENSP00000359686:R581C;ENSP00000416526:R376C;ENSP00000287534:R518C;ENSP00000377697:R376C	ENSP00000287534:R518C	R	+	1	0	GPR112	135255272	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.616000	0.05591	-0.924000	0.03780	-0.613000	0.04052	CGT		GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
SLITRK2	84631	hgsc.bcm.edu	37	X	144905479	144905479	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:144905479A>G	ENST00000370490.1	+	1	5791	c.1536A>G	c.(1534-1536)aaA>aaG	p.K512K	SLITRK2_ENST00000428560.2_Silent_p.K512K|SLITRK2_ENST00000434188.2_Silent_p.K512K|SLITRK2_ENST00000413937.2_Silent_p.K512K|SLITRK2_ENST00000447897.2_Silent_p.K512K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	512					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.K512N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCGTGAAAGGGGTTCTGG	0.507																																																	1	Substitution - Missense(1)	ovary(1)	X											73.0	77.0	76.0					X																	144905479		2203	4300	6503	144713171	SO:0001819	synonymous_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1536A>G	X.37:g.144905479A>G		Somatic		Capture	Illumina HiSeq	Phase_I	144713171	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	CCDS14680.1																																																																																				SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
F8	2157	hgsc.bcm.edu	37	X	154159114	154159114	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:154159114G>A	ENST00000360256.4	-	14	3151	c.2951C>T	c.(2950-2952)tCg>tTg	p.S984L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	984	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCTGTTGACGATACATTTTT	0.363																																																	0			X											71.0	70.0	71.0					X																	154159114		2203	4299	6502	153812308	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2951C>T	X.37:g.154159114G>A	ENSP00000353393:p.Ser984Leu	Somatic		Capture	Illumina HiSeq	Phase_I	153812308	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.242647	0.00022	.	.	ENSG00000185010	ENST00000360256	D	0.99214	-5.57	5.07	-6.94	0.01633	.	1.487810	0.04065	N	0.307122	D	0.94978	0.8375	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.93750	0.7058	10	0.18710	T	0.47	-0.0037	11.0531	0.47903	0.242:0.111:0.647:0.0	.	984	P00451	FA8_HUMAN	L	984	ENSP00000353393:S984L	ENSP00000353393:S984L	S	-	2	0	F8	153812308	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.104000	0.10923	-2.125000	0.00821	-3.173000	0.00056	TCG		F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
AFAP1	60312	hgsc.bcm.edu	37	4	7776610	7776610	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr4:7776610C>G	ENST00000360265.4	-	13	1900	c.1666G>C	c.(1666-1668)Ggc>Cgc	p.G556R	AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.G556R|AFAP1_ENST00000420658.1_Missense_Mutation_p.G640R|AFAP1_ENST00000382543.3_Missense_Mutation_p.G640R|AFAP1-AS1_ENST00000608442.1_RNA			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	556						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CGGTTCTTGCCATACTTGTAC	0.493																																																	0			4											96.0	104.0	102.0					4																	7776610		2203	4300	6503	7827510	SO:0001583	missense	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1666G>C	4.37:g.7776610C>G	ENSP00000353402:p.Gly556Arg	Somatic		Capture	Illumina HiSeq	Phase_I	7827510	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595452	0.86953	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.87547	2.89	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77381	-0.2609	10	0.72032	D	0.01	-39.0433	17.4991	0.87727	0.0:1.0:0.0:0.0	.	640;556	E9PDT7;Q8N556	.;AFAP1_HUMAN	R	556;640;556;640	ENSP00000353402:G556R;ENSP00000410689:G640R;ENSP00000351245:G556R;ENSP00000371983:G640R	ENSP00000351245:G556R	G	-	1	0	AFAP1	7827510	1.000000	0.71417	0.976000	0.42696	0.947000	0.59692	6.735000	0.74806	2.108000	0.64289	0.655000	0.94253	GGC		AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
PRKG2	5593	hgsc.bcm.edu	37	4	82065433	82065433	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr4:82065433T>C	ENST00000395578.1	-	10	1322	c.1206A>G	c.(1204-1206)gaA>gaG	p.E402E	PRKG2_ENST00000418486.2_Silent_p.E402E|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.E402E			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	402					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CCACATATCCTTCAAGGTATT	0.408																																																	0			4											173.0	160.0	164.0					4																	82065433		2203	4300	6503	82284457	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1206A>G	4.37:g.82065433T>C		Somatic		Capture	Illumina HiSeq	Phase_I	82284457	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																				PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
HPSE	10855	hgsc.bcm.edu	37	4	84231914	84231914	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr4:84231914A>G	ENST00000405413.2	-	6	939	c.803T>C	c.(802-804)gTt>gCt	p.V268A	HPSE_ENST00000512196.1_Missense_Mutation_p.V268A|HPSE_ENST00000513463.1_Missense_Mutation_p.V210A|HPSE_ENST00000311412.5_Missense_Mutation_p.V268A	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	268					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	AGGCTGACCAACATCAGGACC	0.388																																																	0			4											208.0	201.0	203.0					4																	84231914		2203	4300	6503	84450938	SO:0001583	missense	10855			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.803T>C	4.37:g.84231914A>G	ENSP00000384262:p.Val268Ala	Somatic		Capture	Illumina HiSeq	Phase_I	84450938	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.848191	0.71603	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.11	5.11	0.69529	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.643383	0.16294	N	0.220767	T	0.49440	0.1557	L	0.56769	1.78	0.40041	D	0.975656	P;P;D	0.56746	0.892;0.95;0.977	B;P;P	0.54270	0.389;0.716;0.747	T	0.49890	-0.8891	10	0.49607	T	0.09	-2.178	14.7198	0.69297	1.0:0.0:0.0:0.0	.	268;210;268	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	A	268;268;268;210	ENSP00000308107:V268A;ENSP00000384262:V268A;ENSP00000423265:V268A;ENSP00000421365:V210A	ENSP00000308107:V268A	V	-	2	0	HPSE	84450938	0.886000	0.30341	0.292000	0.24919	0.927000	0.56198	8.002000	0.88514	2.143000	0.66587	0.477000	0.44152	GTT		HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665	
ANK2	287	hgsc.bcm.edu	37	4	114279170	114279170	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr4:114279170C>T	ENST00000357077.4	+	38	9449	c.9396C>T	c.(9394-9396)ttC>ttT	p.F3132F	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.F3099F|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3132					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCACTTTTTCCAAATTGGTC	0.448																																																	0			4											41.0	45.0	44.0					4																	114279170		2202	4299	6501	114498619	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9396C>T	4.37:g.114279170C>T		Somatic		Capture	Illumina HiSeq	Phase_I	114498619	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
FBXW7	55294	hgsc.bcm.edu	37	4	153258969	153258969	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr4:153258969T>C	ENST00000281708.4	-	5	2075	c.846A>G	c.(844-846)tcA>tcG	p.S282S	RP11-461L13.2_ENST00000605147.1_RNA|FBXW7_ENST00000263981.5_Silent_p.S202S|FBXW7_ENST00000393956.3_Silent_p.S106S|FBXW7_ENST00000603841.1_Silent_p.S282S|FBXW7_ENST00000296555.5_Silent_p.S164S|FBXW7_ENST00000603548.1_Silent_p.S282S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	282	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TAGGGAGCAATGAAATGAAGT	0.338			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											171.0	166.0	168.0					4																	153258969		2203	4300	6503	153478419	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.846A>G	4.37:g.153258969T>C		Somatic		Capture	Illumina HiSeq	Phase_I	153478419	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FAT1	2195	hgsc.bcm.edu	37	4	187630478	187630478	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr4:187630478G>A	ENST00000441802.2	-	2	713	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	168	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACTCTTGCGATACTGGTCC	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0			4											183.0	190.0	188.0					4																	187630478		2173	4280	6453	187867472	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.504C>T	4.37:g.187630478G>A		Somatic		Capture	Illumina HiSeq	Phase_I	187867472		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
GLI2	2736	hgsc.bcm.edu	37	2	121736047	121736047	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:121736047A>G	ENST00000452319.1	+	10	1466	c.1406A>G	c.(1405-1407)gAg>gGg	p.E469G	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.E141G|GLI2_ENST00000361492.4_Missense_Mutation_p.E469G					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GAGAAGAAGGAGTTTGTGTGC	0.642																																																	0			2											152.0	147.0	149.0					2																	121736047		2203	4300	6503	121452517	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1406A>G	2.37:g.121736047A>G	ENSP00000390436:p.Glu469Gly	Somatic		Capture	Illumina HiSeq	Phase_I	121452517		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760512	0.69763	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91521	-2.86;-2.86;-2.86	4.03	4.03	0.46877	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.114584	0.64402	D	0.000017	D	0.94085	0.8104	M	0.72479	2.2	0.58432	D	0.999997	P;D;P;P;B	0.71674	0.514;0.998;0.589;0.891;0.195	B;D;B;B;B	0.70935	0.058;0.971;0.042;0.385;0.049	D	0.94675	0.7860	10	0.87932	D	0	.	13.398	0.60865	1.0:0.0:0.0:0.0	.	469;452;124;124;141	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	G	469;469;141	ENSP00000390436:E469G;ENSP00000354586:E469G;ENSP00000312694:E141G	ENSP00000312694:E141G	E	+	2	0	GLI2	121452517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.036000	0.93758	1.823000	0.53134	0.402000	0.26972	GAG		GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
AMER3	205147	hgsc.bcm.edu	37	2	131520172	131520172	+	Missense_Mutation	SNP	C	C	T	rs139544644		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:131520172C>T	ENST00000423981.1	+	2	637	c.527C>T	c.(526-528)tCg>tTg	p.S176L	AMER3_ENST00000321420.4_Missense_Mutation_p.S176L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	176					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GACTTGGCCTCGCTGGCGGCC	0.642																																																	0			2						C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4401	2.1+/-5.4	0,1,2200	47.0	51.0	50.0		527,527,527,527	4.0	0.0	2	dbSNP_134	50	0,8586		0,0,4293	no	missense,missense,missense,missense	FAM123C	NM_001105193.1,NM_001105194.1,NM_001105195.1,NM_152698.2	145,145,145,145	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	176/862,176/862,176/862,176/862	131520172	1,12987	2201	4293	6494	131236642	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.527C>T	2.37:g.131520172C>T	ENSP00000392700:p.Ser176Leu	Somatic		Capture	Illumina HiSeq	Phase_I	131236642	B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.203645	0.00296	2.27E-4	0.0	ENSG00000178171	ENST00000321420;ENST00000458606;ENST00000423981	T;T	0.44083	0.93;0.93	5.09	3.97	0.46021	.	1.118290	0.06631	N	0.759122	T	0.27349	0.0671	L	0.29908	0.895	0.09310	N	1	P	0.38767	0.646	B	0.35655	0.207	T	0.07404	-1.0774	10	0.02654	T	1	.	9.0084	0.36127	0.0:0.8595:0.0:0.1405	.	176	Q8N944	F123C_HUMAN	L	176	ENSP00000314914:S176L;ENSP00000392700:S176L	ENSP00000314914:S176L	S	+	2	0	FAM123C	131236642	0.006000	0.16342	0.022000	0.16811	0.004000	0.04260	2.074000	0.41529	2.536000	0.85505	0.561000	0.74099	TCG		AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
SCN3A	6328	hgsc.bcm.edu	37	2	166012311	166012311	+	Silent	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:166012311T>C	ENST00000360093.3	-	10	1625	c.1134A>G	c.(1132-1134)cgA>cgG	p.R378R	SCN3A_ENST00000283254.7_Silent_p.R378R|SCN3A_ENST00000409101.3_Silent_p.R378R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	378					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGTCATGAGTCGAAATAGAG	0.408																																																	0			2											107.0	103.0	104.0					2																	166012311		2203	4300	6503	165720557	SO:0001819	synonymous_variant	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1134A>G	2.37:g.166012311T>C		Somatic		Capture	Illumina HiSeq	Phase_I	165720557	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
HOXD10	3236	hgsc.bcm.edu	37	2	176981954	176981954	+	Silent	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:176981954C>T	ENST00000249501.4	+	1	648	c.393C>T	c.(391-393)taC>taT	p.Y131Y	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	131					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TCCCTTCGTACCAGAGGCTGG	0.517																																																	0			2											139.0	156.0	150.0					2																	176981954		2203	4300	6503	176690200	SO:0001819	synonymous_variant	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.393C>T	2.37:g.176981954C>T		Somatic		Capture	Illumina HiSeq	Phase_I	176690200	Q6NT10	Silent	SNP	ENST00000249501.4	37	CCDS2266.1																																																																																				HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2		
HOXD10	3236	hgsc.bcm.edu	37	2	176981956	176981956	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:176981956A>T	ENST00000249501.4	+	1	650	c.395A>T	c.(394-396)cAg>cTg	p.Q132L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	132					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTTCGTACCAGAGGCTGGTC	0.517																																																	0			2											137.0	154.0	148.0					2																	176981956		2203	4300	6503	176690202	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.395A>T	2.37:g.176981956A>T	ENSP00000249501:p.Gln132Leu	Somatic		Capture	Illumina HiSeq	Phase_I	176690202	Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153677	0.38021	.	.	ENSG00000128710	ENST00000249501	T	0.31247	1.5	5.99	5.99	0.97316	.	0.107337	0.64402	D	0.000003	T	0.36771	0.0979	M	0.68317	2.08	0.45035	D	0.998051	B	0.11235	0.004	B	0.14578	0.011	T	0.10847	-1.0612	10	0.54805	T	0.06	.	16.4892	0.84195	1.0:0.0:0.0:0.0	.	132	P28358	HXD10_HUMAN	L	132	ENSP00000249501:Q132L	ENSP00000249501:Q132L	Q	+	2	0	HOXD10	176690202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.608000	0.74168	2.296000	0.77279	0.533000	0.62120	CAG		HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2		
FN1	2335	hgsc.bcm.edu	37	2	216251569	216251569	+	Silent	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:216251569G>A	ENST00000359671.1	-	27	4447	c.4182C>T	c.(4180-4182)ccC>ccT	p.P1394P	FN1_ENST00000357009.2_Silent_p.P1394P|FN1_ENST00000323926.6_Silent_p.P1485P|FN1_ENST00000432072.2_Silent_p.P1485P|FN1_ENST00000356005.4_Silent_p.P1394P|FN1_ENST00000354785.4_Silent_p.P1485P|FN1_ENST00000357867.4_Silent_p.P1394P|FN1_ENST00000336916.4_Silent_p.P1394P|FN1_ENST00000346544.3_Silent_p.P1394P|FN1_ENST00000421182.1_Silent_p.P1394P|FN1_ENST00000345488.5_Silent_p.P1394P|FN1_ENST00000443816.1_Silent_p.P1394P|FN1_ENST00000446046.1_Silent_p.P1394P			P02751	FINC_HUMAN	fibronectin 1	1394	Cell-attachment.|Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGAAGTGCTCGGGATGATGGC	0.532																																																	0			2											91.0	82.0	85.0					2																	216251569		2203	4300	6503	215959814	SO:0001819	synonymous_variant	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4182C>T	2.37:g.216251569G>A		Somatic		Capture	Illumina HiSeq	Phase_I	215959814	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
SPEG	10290	hgsc.bcm.edu	37	2	220355198	220355198	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:220355198G>A	ENST00000312358.7	+	37	9121	c.8989G>A	c.(8989-8991)Gtg>Atg	p.V2997M	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2997	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCCAAGATCGTGCCCTATGC	0.667																																																	0			2											41.0	48.0	46.0					2																	220355198		2125	4226	6351	220063442	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8989G>A	2.37:g.220355198G>A	ENSP00000311684:p.Val2997Met	Somatic		Capture	Illumina HiSeq	Phase_I	220063442	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027249	0.54683	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.41400	1.0	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.36778	N	0.002408	T	0.46889	0.1416	N	0.20574	0.59	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.49908	-0.8889	10	0.87932	D	0	.	10.9133	0.47120	0.0868:0.0:0.9132:0.0	.	2997	Q15772	SPEG_HUMAN	M	2997	ENSP00000311684:V2997M	ENSP00000265327:V2997M	V	+	1	0	SPEG	220063442	0.998000	0.40836	0.982000	0.44146	0.986000	0.74619	2.609000	0.46317	2.417000	0.82017	0.591000	0.81541	GTG		SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
UGT1A5	54579	hgsc.bcm.edu	37	2	234622413	234622413	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:234622413G>A	ENST00000373414.3	+	1	776	c.776G>A	c.(775-777)gGg>gAg	p.G259E	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.G259E|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	259			G -> R (in dbSNP:rs3892170).			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CTGTTCCGAGGGGACTTTGTG	0.522																																																	0			2											152.0	159.0	157.0					2																	234622413		2203	4299	6502	234287152	SO:0001583	missense	54579			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.776G>A	2.37:g.234622413G>A	ENSP00000362513:p.Gly259Glu	Somatic		Capture	Illumina HiSeq	Phase_I	234287152	B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.933817	0.02340	.	.	ENSG00000240224	ENST00000373414	T	0.61510	0.1	4.73	-2.87	0.05700	.	1.728100	0.02944	N	0.140911	T	0.46639	0.1403	L	0.51914	1.62	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.012;0.012	T	0.25257	-1.0137	10	0.52906	T	0.07	.	0.5971	0.00738	0.3505:0.1945:0.2579:0.197	.	259;259	Q5DSZ9;P35504	.;UD15_HUMAN	E	259	ENSP00000362513:G259E	ENSP00000362513:G259E	G	+	2	0	UGT1A5	234287152	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.561000	0.00921	-0.427000	0.07350	-2.205000	0.00302	GGG		UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078	
HJURP	55355	hgsc.bcm.edu	37	2	234750096	234750096	+	Missense_Mutation	SNP	C	C	T	rs546977139		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:234750096C>T	ENST00000411486.2	-	8	1395	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.E390K|HJURP_ENST00000441687.1_Missense_Mutation_p.E359K	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	444					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.E444K(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AGGCAATATTCCCGATGAAGC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17779	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	ovary(1)	2											98.0	98.0	98.0					2																	234750096		2203	4300	6503	234414835	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1330G>A	2.37:g.234750096C>T	ENSP00000414109:p.Glu444Lys	Somatic		Capture	Illumina HiSeq	Phase_I	234414835	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777771	0.49786	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.35	0.601	0.17529	Holliday junction regulator protein family C-terminal repeat (1);	0.674446	0.14356	N	0.324774	T	0.49081	0.1536	L	0.61218	1.895	0.09310	N	1	B;B;B	0.32862	0.336;0.15;0.387	B;B;B	0.31016	0.044;0.044;0.123	T	0.45454	-0.9260	10	0.87932	D	0	-14.6442	6.5845	0.22612	0.0:0.6012:0.0:0.3988	.	359;390;444	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	K	444;390;359;359	ENSP00000414109:E444K;ENSP00000407208:E390K;ENSP00000401944:E359K;ENSP00000393253:E359K	ENSP00000414109:E444K	E	-	1	0	HJURP	234414835	0.005000	0.15991	0.002000	0.10522	0.007000	0.05969	0.565000	0.23578	0.093000	0.17368	-0.793000	0.03317	GAA		HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410	
KANK1	23189	hgsc.bcm.edu	37	9	738304	738304	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr9:738304T>C	ENST00000382303.1	+	12	4005	c.3353T>C	c.(3352-3354)cTc>cCc	p.L1118P	KANK1_ENST00000382297.2_Missense_Mutation_p.L1118P|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.L960P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1118					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGAACACCCTCCAGCACGAG	0.498																																																	0			9											77.0	57.0	64.0					9																	738304		2203	4300	6503	728304	SO:0001583	missense	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3353T>C	9.37:g.738304T>C	ENSP00000371740:p.Leu1118Pro	Somatic		Capture	Illumina HiSeq	Phase_I	728304	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532102	0.85812	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.42513	0.97;0.97;1.02	5.73	5.73	0.89815	.	0.138628	0.32314	N	0.006273	T	0.56262	0.1973	L	0.48642	1.525	0.80722	D	1	P;D;D	0.58620	0.947;0.983;0.972	P;P;P	0.61800	0.894;0.732;0.804	T	0.58470	-0.7631	10	0.87932	D	0	13.4839	16.3265	0.82983	0.0:0.0:0.0:1.0	.	164;30;1118	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	P	1118;164;1118;960;96;30	ENSP00000371740:L1118P;ENSP00000371734:L1118P;ENSP00000371730:L960P	ENSP00000371723:L30P	L	+	2	0	KANK1	728304	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.608000	0.82898	2.313000	0.78055	0.455000	0.32223	CTC		KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
MPDZ	8777	hgsc.bcm.edu	37	9	13119559	13119559	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr9:13119559A>G	ENST00000319217.7	-	39	5568	c.5321T>C	c.(5320-5322)aTg>aCg	p.M1774T	MPDZ_ENST00000538841.1_Missense_Mutation_p.M633T|MPDZ_ENST00000381022.2_Missense_Mutation_p.M1774T|MPDZ_ENST00000541093.1_Missense_Mutation_p.M8T|MPDZ_ENST00000541718.1_Missense_Mutation_p.M1774T|MPDZ_ENST00000447879.1_Missense_Mutation_p.M1741T|MPDZ_ENST00000381015.4_Missense_Mutation_p.M1774T|MPDZ_ENST00000536827.1_Missense_Mutation_p.M1741T|MPDZ_ENST00000546205.1_Missense_Mutation_p.M1788T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1774	PDZ 11. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCCATTCACCATTAATATCTG	0.418																																																	0			9											154.0	151.0	152.0					9																	13119559		1904	4136	6040	13109559	SO:0001583	missense	84708			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5321T>C	9.37:g.13119559A>G	ENSP00000320006:p.Met1774Thr	Somatic		Capture	Illumina HiSeq	Phase_I	13109559	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	A	1.163	-0.643222	0.03531	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.72;1.72;1.02;1.72;1.02;1.02;1.72;1.02;1.02;1.02	6.03	-1.03	0.10102	PDZ/DHR/GLGF (4);	0.339838	0.25138	N	0.032848	T	0.19167	0.0460	N	0.12182	0.205	0.29713	N	0.83923	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.002;0.002;0.001;0.001	T	0.20405	-1.0276	10	0.18276	T	0.48	.	8.367	0.32393	0.4261:0.1196:0.4543:0.0	.	1741;633;479;1741;1654;1774;1774;467	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	T	1774;1774;1774;315;8;710;633;1741;1741;1774;1654;1788	ENSP00000320006:M1774T;ENSP00000439807:M1774T;ENSP00000370410:M1774T;ENSP00000415964:M315T;ENSP00000445259:M8T;ENSP00000444230:M710T;ENSP00000444717:M633T;ENSP00000444151:M1741T;ENSP00000415208:M1741T;ENSP00000370403:M1774T;ENSP00000446358:M1788T	ENSP00000320006:M1774T	M	-	2	0	MPDZ	13109559	0.919000	0.31177	0.244000	0.24202	0.351000	0.29236	1.915000	0.39976	-0.422000	0.07405	-0.313000	0.08912	ATG		MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
TOPORS	10210	hgsc.bcm.edu	37	9	32543970	32543970	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr9:32543970T>C	ENST00000360538.2	-	3	669	c.553A>G	c.(553-555)Aca>Gca	p.T185A	TOPORS_ENST00000379858.1_Missense_Mutation_p.T120A	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	185	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTCCCTTGTCAGAGTTGTA	0.463																																																	0			9											135.0	116.0	122.0					9																	32543970		2203	4300	6503	32533970	SO:0001583	missense	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.553A>G	9.37:g.32543970T>C	ENSP00000353735:p.Thr185Ala	Somatic		Capture	Illumina HiSeq	Phase_I	32533970	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316678	0.40996	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18657	2.2;2.21	5.21	5.21	0.72293	.	0.000000	0.47455	D	0.000234	T	0.31638	0.0803	L	0.55481	1.735	0.39957	D	0.974616	D	0.58620	0.983	P	0.51016	0.656	T	0.11084	-1.0602	10	0.62326	D	0.03	-15.1247	14.3756	0.66874	0.0:0.0:0.0:1.0	.	185	Q9NS56	TOPRS_HUMAN	A	185;120	ENSP00000353735:T185A;ENSP00000369187:T120A	ENSP00000353735:T185A	T	-	1	0	TOPORS	32533970	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	7.610000	0.82949	2.092000	0.63282	0.460000	0.39030	ACA		TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
PTCH1	5727	hgsc.bcm.edu	37	9	98248027	98248027	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr9:98248027A>G	ENST00000331920.6	-	3	823	c.524T>C	c.(523-525)cTc>cCc	p.L175P	PTCH1_ENST00000430669.2_Missense_Mutation_p.L109P|PTCH1_ENST00000421141.1_Missense_Mutation_p.L24P|PTCH1_ENST00000468211.2_Missense_Mutation_p.L109P|PTCH1_ENST00000437951.1_Missense_Mutation_p.L109P|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000429896.2_Missense_Mutation_p.L24P|PTCH1_ENST00000418258.1_Missense_Mutation_p.L24P|PTCH1_ENST00000375274.2_Missense_Mutation_p.L174P	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	175			L -> P (in BCNS; sporadic BCC). {ECO:0000269|PubMed:8658145}.		brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGTTGTAGGAGCGCTTCTGT	0.507																																																	0			9											193.0	199.0	197.0					9																	98248027		2203	4300	6503	97287848	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.524T>C	9.37:g.98248027A>G	ENSP00000332353:p.Leu175Pro	Somatic		Capture	Illumina HiSeq	Phase_I	97287848	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.041598	0.55003	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;T	0.97553	-2.21;-4.36;-4.19;-4.19;-4.36;-4.19;-4.43;-3.05;-3.05;-3.05;-3.05;-2.21;0.77	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.99564	1.0969	10	0.87932	D	0	-28.3253	16.2449	0.82437	1.0:0.0:0.0:0.0	.	109;174;175	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	P	175;109;24;24;109;24;174;24;24;24;24;109;24	ENSP00000332353:L175P;ENSP00000389744:L109P;ENSP00000399981:L24P;ENSP00000396135:L24P;ENSP00000410287:L109P;ENSP00000414823:L24P;ENSP00000364423:L174P;ENSP00000447797:L24P;ENSP00000447008:L24P;ENSP00000447878:L24P;ENSP00000448843:L24P;ENSP00000449745:L109P;ENSP00000450131:L24P	ENSP00000332353:L175P	L	-	2	0	PTCH1	97287848	1.000000	0.71417	0.409000	0.26459	0.020000	0.10135	8.962000	0.93254	2.241000	0.73720	0.482000	0.46254	CTC		PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
OR1J2	26740	hgsc.bcm.edu	37	9	125273262	125273262	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr9:125273262T>C	ENST00000335302.5	+	1	182	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCCATGTACTTCTTCCTCAGC	0.517																																																	0			9											268.0	206.0	227.0					9																	125273262		2203	4300	6503	124313083	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.182T>C	9.37:g.125273262T>C	ENSP00000335575:p.Phe61Ser	Somatic		Capture	Illumina HiSeq	Phase_I	124313083	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694793	0.88830	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.00557	6.62	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37012	U	0.002285	T	0.02929	0.0087	M	0.91612	3.225	0.32759	N	0.505352	D	0.57899	0.981	D	0.67231	0.95	T	0.01702	-1.1292	10	0.72032	D	0.01	.	13.9092	0.63855	0.0:0.0:0.0:1.0	.	61	Q8NGS2	OR1J2_HUMAN	S	61	ENSP00000335575:F61S	ENSP00000335575:F61S	F	+	2	0	OR1J2	124313083	0.362000	0.24980	1.000000	0.80357	0.991000	0.79684	2.606000	0.46291	2.132000	0.65825	0.529000	0.55759	TTC		OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1		
ZMYM2	7750	hgsc.bcm.edu	37	13	20638636	20638636	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr13:20638636T>C	ENST00000382874.2	+	20	3273	c.3083T>C	c.(3082-3084)gTt>gCt	p.V1028A	ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1028A|ZMYM2_ENST00000382869.3_Missense_Mutation_p.V1028A	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1028					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)			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)		TTACCACCTGTTTTTGGCGAA	0.338																																																	0			13											118.0	108.0	111.0					13																	20638636		1821	4087	5908	19536636	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.3083T>C	13.37:g.20638636T>C	ENSP00000372327:p.Val1028Ala	Somatic		Capture	Illumina HiSeq	Phase_I	19536636	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.483847	0.26598	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.17691	2.26	5.52	4.32	0.51571	.	0.107103	0.64402	D	0.000006	T	0.12732	0.0309	L	0.43152	1.355	0.80722	D	1	B	0.32781	0.384	B	0.26517	0.07	T	0.05582	-1.0876	10	0.11182	T	0.66	-17.314	12.1044	0.53803	0.1288:0.0:0.0:0.8712	.	1028	Q9UBW7	ZMYM2_HUMAN	A	1028;1028;1026;1026;406	ENSP00000372322:V1028A	ENSP00000372322:V1028A	V	+	2	0	ZMYM2	19536636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.789000	0.69029	0.997000	0.38969	0.533000	0.62120	GTT		ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
NALCN	259232	hgsc.bcm.edu	37	13	101759859	101759859	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr13:101759859A>G	ENST00000251127.6	-	22	2639	c.2558T>C	c.(2557-2559)gTg>gCg	p.V853A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	853					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCTCGGACCACCACCCGGCA	0.498																																																	0			13											129.0	112.0	118.0					13																	101759859		2203	4300	6503	100557860	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2558T>C	13.37:g.101759859A>G	ENSP00000251127:p.Val853Ala	Somatic		Capture	Illumina HiSeq	Phase_I	100557860	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993415	0.74703	.	.	ENSG00000102452	ENST00000251127	D	0.97688	-4.49	5.61	5.61	0.85477	.	0.116529	0.64402	D	0.000017	D	0.93488	0.7922	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.18263	0.021	D	0.90318	0.4342	10	0.72032	D	0.01	.	15.8226	0.78667	1.0:0.0:0.0:0.0	.	853	Q8IZF0	NALCN_HUMAN	A	853	ENSP00000251127:V853A	ENSP00000251127:V853A	V	-	2	0	NALCN	100557860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.233000	0.95337	2.126000	0.65437	0.528000	0.53228	GTG		NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
SPAG6	9576	hgsc.bcm.edu	37	10	22657452	22657452	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:22657452T>C	ENST00000376624.3	+	4	459	c.317T>C	c.(316-318)gTg>gCg	p.V106A	SPAG6_ENST00000538630.1_Missense_Mutation_p.V81A|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376603.2_Missense_Mutation_p.V182A|SPAG6_ENST00000313311.6_Missense_Mutation_p.V106A|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	106			V -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCTGCCTTTGTGTTACGAGCA	0.418																																																	0			10											104.0	97.0	99.0					10																	22657452		2203	4300	6503	22697458	SO:0001583	missense	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.317T>C	10.37:g.22657452T>C	ENSP00000365811:p.Val106Ala	Somatic		Capture	Illumina HiSeq	Phase_I	22697458	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	T	32	5.169334	0.94768	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311;ENST00000435326	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;1.24	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.052283	0.85682	D	0.000000	T	0.76557	0.4004	M	0.88310	2.945	0.80722	D	1	P;P;D;P	0.55172	0.795;0.812;0.97;0.89	P;P;P;P	0.57152	0.539;0.551;0.814;0.539	T	0.81484	-0.0912	10	0.62326	D	0.03	-22.2157	15.9771	0.80076	0.0:0.0:0.0:1.0	.	81;182;106;106	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	A	106;182;81;106;182	ENSP00000365811:V106A;ENSP00000365788:V182A;ENSP00000441325:V81A;ENSP00000323599:V106A;ENSP00000406594:V182A	ENSP00000323599:V106A	V	+	2	0	SPAG6	22697458	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.665000	0.83852	2.165000	0.68154	0.533000	0.62120	GTG		SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
ZEB1	6935	hgsc.bcm.edu	37	10	31812949	31812949	+	Missense_Mutation	SNP	G	G	A	rs35653460		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:31812949G>A	ENST00000320985.10	+	8	2800	c.2690G>A	c.(2689-2691)cGg>cAg	p.R897Q	ZEB1_ENST00000542815.3_Missense_Mutation_p.R830Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.R877Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.R898Q|ZEB1_ENST00000446923.2_Missense_Mutation_p.R881Q			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	897					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R897Q(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAGAAAATGCGGAAGACAGAA	0.373																																					Ovarian(40;423 959 14296 36701 49589)												1	Substitution - Missense(1)	large_intestine(1)	10						G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	111.0	111.0		2642,2630,2639,2489,2693,2690	4.8	1.0	10	dbSNP_126	111	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	ZEB1	NM_001128128.2,NM_001174093.1,NM_001174094.1,NM_001174095.1,NM_001174096.1,NM_030751.5	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	881/1109,877/1105,880/1108,830/1058,898/1126,897/1125	31812949	1,13005	2203	4300	6503	31852955	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2690G>A	10.37:g.31812949G>A	ENSP00000319248:p.Arg897Gln	Somatic		Capture	Illumina HiSeq	Phase_I	31852955	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833834	0.71258	2.27E-4	0.0	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.72	4.8	0.61643	.	0.369405	0.21055	N	0.080939	T	0.14184	0.0343	L	0.27053	0.805	0.37448	D	0.91469	D;P;P;P;P	0.69078	0.997;0.913;0.574;0.913;0.913	D;B;B;B;B	0.64144	0.922;0.174;0.068;0.129;0.089	T	0.12811	-1.0533	10	0.41790	T	0.15	-12.9237	10.1047	0.42526	0.071:0.1383:0.7907:0.0	rs35653460	830;881;877;898;897	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	Q	679;897;898;892;830;897;877;788;881	ENSP00000444282:R679Q;ENSP00000354487:R898Q;ENSP00000444891:R830Q;ENSP00000319248:R897Q;ENSP00000391612:R881Q	ENSP00000319248:R897Q	R	+	2	0	ZEB1	31852955	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.665000	0.68052	1.410000	0.46936	0.585000	0.79938	CGG		ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43678937	43678937	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:43678937G>A	ENST00000374466.3	+	8	1911	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	526					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAGGAAATAGAGACGCATCT	0.463																																																	0			10											104.0	100.0	101.0					10																	43678937		2203	4300	6503	42998943	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1576G>A	10.37:g.43678937G>A	ENSP00000363590:p.Glu526Lys	Somatic		Capture	Illumina HiSeq	Phase_I	42998943	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814143	0.96975	.	.	ENSG00000169826	ENST00000374466	T	0.24538	1.85	5.87	5.87	0.94306	.	0.088022	0.85682	D	0.000000	T	0.53174	0.1780	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.32613	-0.9900	10	0.30854	T	0.27	-18.2922	20.5827	0.99408	0.0:0.0:1.0:0.0	.	526	Q8N6G5	CGAT2_HUMAN	K	526	ENSP00000363590:E526K	ENSP00000363590:E526K	E	+	1	0	CSGALNACT2	42998943	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.434000	0.80377	2.941000	0.99782	0.655000	0.94253	GAG		CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
PTEN	5728	hgsc.bcm.edu	37	10	89717639	89717639	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:89717639G>A	ENST00000371953.3	+	7	2021	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	222	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGCTAAAGGTGAAGATATA	0.418		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	49	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)	10											139.0	121.0	127.0					10																	89717639		2203	4300	6503	89707619	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.664G>A	10.37:g.89717639G>A	ENSP00000361021:p.Val222Met	Somatic		Capture	Illumina HiSeq	Phase_I	89707619	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936685	0.92458	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.67	5.67	0.87782	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91161	0.4961	9	.	.	.	-2.0154	19.7712	0.96366	0.0:0.0:1.0:0.0	.	222	P60484	PTEN_HUMAN	M	222	ENSP00000361021:V222M	.	V	+	1	0	PTEN	89707619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.677000	0.91161	0.585000	0.79938	GTG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SLK	9748	hgsc.bcm.edu	37	10	105762748	105762748	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:105762748A>G	ENST00000369755.3	+	9	2357	c.1812A>G	c.(1810-1812)gaA>gaG	p.E604E	SLK_ENST00000335753.4_Silent_p.E604E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	604	Glu-rich.		E -> Q (in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CTATTAAAGAAATAGTTGAAA	0.378																																					NSCLC(111;540 1651 1927 4474 17706)												0			10											35.0	37.0	36.0					10																	105762748		2203	4300	6503	105752738	SO:0001819	synonymous_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1812A>G	10.37:g.105762748A>G		Somatic		Capture	Illumina HiSeq	Phase_I	105752738	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	ENST00000369755.3	37	CCDS7553.1																																																																																				SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
VWA2	340706	hgsc.bcm.edu	37	10	116032537	116032537	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:116032537T>C	ENST00000392982.3	+	6	660	c.410T>C	c.(409-411)cTt>cCt	p.L137P	VWA2_ENST00000603594.1_Missense_Mutation_p.L137P			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	137	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.		L -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)	p.L137R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGAAATACCTTCTGCACAGA	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)	10											112.0	109.0	110.0					10																	116032537		2203	4300	6503	116022527	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.410T>C	10.37:g.116032537T>C	ENSP00000376708:p.Leu137Pro	Somatic		Capture	Illumina HiSeq	Phase_I	116022527	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	T	14.42	2.530212	0.45073	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83837	-1.77	4.83	3.67	0.42095	von Willebrand factor, type A (3);	0.341394	0.27323	N	0.019887	D	0.90099	0.6907	M	0.87547	2.89	0.53005	D	0.999964	D;D	0.69078	0.997;0.996	D;D	0.67103	0.949;0.914	D	0.88651	0.3182	10	0.48119	T	0.1	.	9.2493	0.37545	0.1612:0.0:0.0:0.8388	.	137;137	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	P	137	ENSP00000376708:L137P	ENSP00000298715:L137P	L	+	2	0	VWA2	116022527	1.000000	0.71417	0.998000	0.56505	0.371000	0.29859	5.402000	0.66332	0.656000	0.30886	0.533000	0.62120	CTT		VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496	
FASTKD3	79072	hgsc.bcm.edu	37	5	7867093	7867093	+	Silent	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:7867093A>G	ENST00000264669.5	-	2	1240	c.1104T>C	c.(1102-1104)ccT>ccC	p.P368P	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	368					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.P368P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGACAACTTCAGGATCCAACG	0.458																																																	1	Substitution - coding silent(1)	ovary(1)	5											72.0	71.0	72.0					5																	7867093		2203	4300	6503	7920093	SO:0001819	synonymous_variant	79072			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1104T>C	5.37:g.7867093A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7920093	Q9BVD3	Silent	SNP	ENST00000264669.5	37	CCDS3873.1																																																																																				FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
UGT3A2	167127	hgsc.bcm.edu	37	5	36035970	36035970	+	Missense_Mutation	SNP	C	C	T	rs200458466		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:36035970C>T	ENST00000282507.3	-	7	1503	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	UGT3A2_ENST00000545528.1_Missense_Mutation_p.A166T|UGT3A2_ENST00000513300.1_Missense_Mutation_p.A434T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGCGTCGCGCCCCCTGTC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16335	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)	5											50.0	45.0	46.0					5																	36035970		2203	4300	6503	36071727	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1402G>A	5.37:g.36035970C>T	ENSP00000282507:p.Ala468Thr	Somatic		Capture	Illumina HiSeq	Phase_I	36071727	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574251	0.28092	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.71579	-0.58;-0.58;-0.25	2.74	1.84	0.25277	.	0.364632	0.19685	U	0.108411	T	0.74535	0.3729	M	0.74258	2.255	0.09310	N	1	D;D	0.67145	0.978;0.996	P;P	0.55577	0.74;0.779	T	0.64672	-0.6352	10	0.87932	D	0	.	4.8123	0.13349	0.217:0.6619:0.0:0.1211	.	434;468	E9PFK7;Q3SY77	.;UD3A2_HUMAN	T	468;434;166	ENSP00000282507:A468T;ENSP00000427404:A434T;ENSP00000445367:A166T	ENSP00000282507:A468T	A	-	1	0	UGT3A2	36071727	0.003000	0.15002	0.003000	0.11579	0.000000	0.00434	1.274000	0.33132	0.689000	0.31550	-0.309000	0.09137	GCG		UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
F2RL2	2151	hgsc.bcm.edu	37	5	75913456	75913456	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:75913456A>C	ENST00000296641.4	-	2	1279	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.F337C|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	359					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGACATGAGAAAATAAAGGAA	0.363																																																	0			5											103.0	101.0	102.0					5																	75913456		2203	4300	6503	75949212	SO:0001583	missense	2151			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.1076T>G	5.37:g.75913456A>C	ENSP00000296641:p.Phe359Cys	Somatic		Capture	Illumina HiSeq	Phase_I	75949212	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724010	0.48728	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.37584	1.19;1.19	5.0	2.49	0.30216	.	0.126185	0.56097	D	0.000038	T	0.27765	0.0683	L	0.45352	1.415	0.39048	D	0.960264	B	0.26547	0.152	B	0.24269	0.052	T	0.08166	-1.0735	10	0.48119	T	0.1	-12.3456	8.3495	0.32295	0.7307:0.1379:0.0:0.1314	.	359	O00254	PAR3_HUMAN	C	359;337	ENSP00000296641:F359C;ENSP00000426703:F337C	ENSP00000296641:F359C	F	-	2	0	F2RL2	75949212	1.000000	0.71417	0.989000	0.46669	0.945000	0.59286	3.386000	0.52492	0.295000	0.22570	0.460000	0.39030	TTT		F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3		
RASGRF2	5924	hgsc.bcm.edu	37	5	80390708	80390708	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:80390708A>T	ENST00000265080.4	+	12	1719	c.1652A>T	c.(1651-1653)gAt>gTt	p.D551V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	551	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGGCACCTGGATTTTAAAATA	0.458																																																	0			5											118.0	121.0	120.0					5																	80390708		2203	4300	6503	80426464	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1652A>T	5.37:g.80390708A>T	ENSP00000265080:p.Asp551Val	Somatic		Capture	Illumina HiSeq	Phase_I	80426464	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861162	0.91433	.	.	ENSG00000113319	ENST00000265080	T	0.25912	1.77	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.78801	2.425	0.80722	D	1	D	0.63046	0.992	P	0.59056	0.851	T	0.53982	-0.8361	10	0.87932	D	0	.	16.0219	0.80503	1.0:0.0:0.0:0.0	.	551	O14827	RGRF2_HUMAN	V	551	ENSP00000265080:D551V	ENSP00000265080:D551V	D	+	2	0	RASGRF2	80426464	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	8.920000	0.92779	2.267000	0.75376	0.528000	0.53228	GAT		RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
APC	324	hgsc.bcm.edu	37	5	112179182	112179182	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:112179182T>C	ENST00000457016.1	+	16	8271	c.7891T>C	c.(7891-7893)Tcc>Ccc	p.S2631P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S2631P|APC_ENST00000508376.2_Missense_Mutation_p.S2631P			P25054	APC_HUMAN	adenomatous polyposis coli	2631	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAGACCGTTTCCTCAGGTGC	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											92.0	102.0	99.0					5																	112179182		2202	4298	6500	112207081	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7891T>C	5.37:g.112179182T>C	ENSP00000413133:p.Ser2631Pro	Somatic		Capture	Illumina HiSeq	Phase_I	112207081	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.362344	0.24684	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89552	-2.53;-2.53;-2.53	6.17	6.17	0.99709	.	0.304311	0.34853	N	0.003624	D	0.90013	0.6882	N	0.24115	0.695	0.41624	D	0.988984	D;D	0.71674	0.998;0.995	D;D	0.75484	0.986;0.979	D	0.89353	0.3662	9	.	.	.	-2.3313	15.3933	0.74767	0.0:0.0:0.0:1.0	.	2633;2631	Q4LE70;P25054	.;APC_HUMAN	P	2631	ENSP00000413133:S2631P;ENSP00000257430:S2631P;ENSP00000427089:S2631P	.	S	+	1	0	APC	112207081	0.990000	0.36364	0.998000	0.56505	0.843000	0.47879	2.087000	0.41653	2.371000	0.80710	0.533000	0.62120	TCC		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CCDC112	153733	hgsc.bcm.edu	37	5	114611077	114611077	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:114611077C>T	ENST00000512261.1	-	7	921	c.505G>A	c.(505-507)Gat>Aat	p.D169N	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Missense_Mutation_p.D252N|CCDC112_ENST00000506442.1_Missense_Mutation_p.D169N|CCDC112_ENST00000395557.4_Missense_Mutation_p.D169N			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	169										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGATCATAATCATCCCAGGCA	0.403																																																	0			5											141.0	141.0	141.0					5																	114611077		2202	4300	6502	114638976	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.505G>A	5.37:g.114611077C>T	ENSP00000423712:p.Asp169Asn	Somatic		Capture	Illumina HiSeq	Phase_I	114638976	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568977	0.65765	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21361	2.01;2.19;2.2;2.19	5.96	5.08	0.68730	.	0.299407	0.40818	N	0.001016	T	0.27559	0.0677	L	0.59436	1.845	0.25538	N	0.987201	B;B;P	0.37276	0.328;0.328;0.589	B;B;B	0.39258	0.232;0.232;0.295	T	0.14448	-1.0472	10	0.66056	D	0.02	-9.1493	16.3735	0.83374	0.133:0.867:0.0:0.0	.	169;252;169	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	N	252;169;169;169	ENSP00000368931:D252N;ENSP00000423712:D169N;ENSP00000424876:D169N;ENSP00000378925:D169N	ENSP00000368931:D252N	D	-	1	0	CCDC112	114638976	1.000000	0.71417	0.862000	0.33874	0.995000	0.86356	1.994000	0.40757	1.475000	0.48197	0.655000	0.94253	GAT		CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
RAD50	10111	hgsc.bcm.edu	37	5	131976422	131976422	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:131976422G>T	ENST00000265335.6	+	24	4064	c.3677G>T	c.(3676-3678)gGc>gTc	p.G1226V	RAD50_ENST00000378823.3_Missense_Mutation_p.G1087V|AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000458509.1_RNA			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1226	Ala/Asp-rich (DA-box).				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAACTGTGGCATCATTGCC	0.483								Homologous recombination																																									0			5											253.0	219.0	230.0					5																	131976422		2203	4300	6503	132004321	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3677G>T	5.37:g.131976422G>T	ENSP00000265335:p.Gly1226Val	Somatic		Capture	Illumina HiSeq	Phase_I	132004321	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324717|5.324717	0.95708|0.95708	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335|ENST00000455677	T;T|.	0.03663|.	3.85;3.85|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.053054|.	0.85682|.	N|.	0.000000|.	T|T	0.58004|0.58004	0.2092|0.2092	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.48055|0.48055	-0.9068|-0.9068	10|5	0.87932|.	D|.	0|.	-10.0375|-10.0375	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1226|.	Q92878|.	RAD50_HUMAN|.	V|C	1087;1226|104	ENSP00000368100:G1087V;ENSP00000265335:G1226V|.	ENSP00000265335:G1226V|.	G|W	+|+	2|3	0|0	RAD50|RAD50	132004321|132004321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.209000|9.209000	0.95087|0.95087	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGC|TGG		RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
GABRP	2568	hgsc.bcm.edu	37	5	170239185	170239185	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr5:170239185C>T	ENST00000518525.1	+	11	1710	c.1246C>T	c.(1246-1248)Cac>Tac	p.H416Y	GABRP_ENST00000265294.4_Missense_Mutation_p.H416Y|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	416			H -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TAATGTTGATCACTATTCCAA	0.348																																																	0			5											120.0	110.0	114.0					5																	170239185		2203	4300	6503	170171763	SO:0001583	missense	2568			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1246C>T	5.37:g.170239185C>T	ENSP00000430100:p.His416Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	170171763	A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549247	0.45383	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	T;T	0.81415	-1.49;-1.49	5.74	4.87	0.63330	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.234387	0.41396	D	0.000893	T	0.66499	0.2795	N	0.08118	0	0.23063	N	0.998356	B	0.16166	0.016	B	0.12837	0.008	T	0.61686	-0.7012	10	0.87932	D	0	.	15.8208	0.78644	0.1372:0.8628:0.0:0.0	.	416	O00591	GBRP_HUMAN	Y	416	ENSP00000430100:H416Y;ENSP00000265294:H416Y	ENSP00000265294:H416Y	H	+	1	0	GABRP	170171763	0.179000	0.23135	0.996000	0.52242	0.874000	0.50279	1.600000	0.36762	1.402000	0.46780	0.655000	0.94253	CAC		GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
NF2	4771	hgsc.bcm.edu	37	22	30038189	30038189	+	Splice_Site	SNP	A	A	G			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr22:30038189A>G	ENST00000338641.4	+	4	804		c.e4-1		NF2_ENST00000353887.4_Splice_Site|NF2_ENST00000397789.3_Splice_Site|NF2_ENST00000361452.4_Splice_Site|NF2_ENST00000403435.1_Splice_Site|NF2_ENST00000361166.4_Splice_Site|NF2_ENST00000403999.3_Splice_Site|NF2_ENST00000413209.2_Splice_Site|NF2_ENST00000334961.7_Splice_Site|NF2_ENST00000361676.4_Splice_Site|NF2_ENST00000347330.5_Splice_Site	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)						actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(5)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGCTCCTTTCAGGTAAAGAAG	0.507			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	5	Unknown(5)	soft_tissue(2)|meninges(1)|large_intestine(1)|stomach(1)	22											87.0	81.0	83.0					22																	30038189		2203	4300	6503	28368189	SO:0001630	splice_region_variant	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.364-1A>G	22.37:g.30038189A>G		Somatic		Capture	Illumina HiSeq	Phase_I	28368189	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Splice_Site	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625773	0.87560	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5249	0.75894	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF2	28368189	1.000000	0.71417	0.993000	0.49108	0.979000	0.70002	9.136000	0.94489	2.075000	0.62263	0.533000	0.62120	.		NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	Intron
FBLIM1	54751	hgsc.bcm.edu	37	1	16091648	16091649	+	Frame_Shift_Ins	INS	-	-	G	rs201442626		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:16091648_16091649insG	ENST00000375766.3	+	3	810_811	c.170_171insG	c.(169-174)gcggggfs	p.AG57fs	FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AG57fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AG57fs|FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AG57fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AG57fs	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	57	Filamin-binding.|Intrinsically disordered.|Pro-rich.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.A57A(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCTGGCTTGGCGGGGAGGCCCA	0.673																																																	1	Substitution - coding silent(1)	lung(1)	1																																								15964236	SO:0001589	frameshift_variant	54751				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.174dupG	1.37:g.16091652_16091652dupG	ENSP00000364921:p.Ala57fs	Somatic		Capture	Illumina HiSeq	Phase_I	15964235	B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Frame_Shift_Ins	INS	ENST00000375766.3	37	CCDS163.1																																																																																				FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215	
SEMA6C	10500	hgsc.bcm.edu	37	1	151112455	151112456	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:151112455_151112456insC	ENST00000341697.3	-	4	1920_1921	c.229_230insG	c.(229-231)gccfs	p.A77fs				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	77	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTTTACCGGGCAGCCACTAGC	0.569																																																	0			1																																								149379080	SO:0001589	frameshift_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.230dupG	1.37:g.151112456_151112456dupC	ENSP00000344148:p.Ala77fs	Somatic		Capture	Illumina HiSeq	Phase_I	149379079	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Frame_Shift_Ins	INS	ENST00000341697.3	37	CCDS984.1																																																																																				SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913	
RPTN	126638	hgsc.bcm.edu	37	1	152129066	152129101	+	In_Frame_Del	DEL	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	-	rs369805852|rs78544048|rs375710188|rs368770198|rs200003389|rs117596468|rs76015112|rs199889562	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	TGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENST00000316073.3	-	3	538_573	c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	c.(472-510)catggtcagtctgagaaacaagacagagattcccaccac>cac	p.158_170HGQSEKQDRDSHH>H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	158	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.G159_H170delGQSEKQDRDSHH(1)|p.S168>?(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGGCTGACTGTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCATGGTGGGAAT	0.492																																																	2	Complex(1)|Deletion - In frame(1)	stomach(1)|skin(1)	1																																								150395725	SO:0001651	inframe_deletion	126638			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.474_509delTGGTCAGTCTGAGAAACAAGACAGAGATTCCCACCA	1.37:g.152129066_152129101delTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA	ENSP00000317895:p.His158_His169del	Somatic		Capture	Illumina HiSeq	Phase_I	150395690	B7ZBZ3	In_Frame_Del	DEL	ENST00000316073.3	37	CCDS41397.1																																																																																				RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
EPRS	2058	hgsc.bcm.edu	37	1	220152937	220152955	+	Frame_Shift_Del	DEL	TAAATGATGTGATGTTCCT	TAAATGATGTGATGTTCCT	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TAAATGATGTGATGTTCCT	TAAATGATGTGATGTTCCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:220152937_220152955delTAAATGATGTGATGTTCCT	ENST00000366923.3	-	27	3983_4001	c.3714_3732delAGGAACATCACATCATTTA	c.(3712-3732)ggaggaacatcacatcatttafs	p.GGTSHHL1238fs		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1238	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.G1239A(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	AATTCTGCCCTAAATGATGTGATGTTCCTCCCTAAAATA	0.352																																																	1	Substitution - Missense(1)	lung(1)	1																																								218219578	SO:0001589	frameshift_variant	2058			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3714_3732delAGGAACATCACATCATTTA	1.37:g.220152937_220152955delTAAATGATGTGATGTTCCT	ENSP00000355890:p.Gly1238fs	Somatic		Capture	Illumina HiSeq	Phase_I	218219560	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Frame_Shift_Del	DEL	ENST00000366923.3	37	CCDS31027.1																																																																																				EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del	Somatic		Capture	Illumina HiSeq	Phase_I	238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
TNFAIP6	7130	hgsc.bcm.edu	37	2	152236046	152236046	+	Stop_Codon_Del	DEL	A	A	-	rs71403164|rs35060021	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr2:152236046delA	ENST00000243347.3	+	0	908					NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AGCCACTTATAAAAAAAAAAA	0.289													|||unknown(HR)	2457	0.490615	0.4425	0.4207	5008	,	,		15615	0.5208		0.5189	False		,,,				2504	0.545																0			2											20.0	21.0	21.0					2																	152236046		2160	4277	6437	151944292	SO:0001567	stop_retained_variant	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	Exception_encountered	2.37:g.152236046delA		Somatic		Capture	Illumina HiSeq	Phase_I	151944292	Q53TI7|Q8WWI9	Frame_Shift_Del	DEL	ENST00000243347.3	37	CCDS2193.1																																																																																				TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
XRN1	54464	hgsc.bcm.edu	37	3	142144096	142144098	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TGG	TGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:142144096_142144098delTGG	ENST00000264951.4	-	5	710_712	c.593_595delCCA	c.(592-597)accaga>aga	p.T198del	XRN1_ENST00000392981.2_In_Frame_Del_p.T198del|XRN1_ENST00000544157.1_Intron|XRN1_ENST00000463916.1_In_Frame_Del_p.T198del	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	198					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGACAGTGTCTGGTGTTTGGATC	0.300																																																	0			3																																								143626788	SO:0001651	inframe_deletion	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.593_595delCCA	3.37:g.142144096_142144098delTGG	ENSP00000264951:p.Thr198del	Somatic		Capture	Illumina HiSeq	Phase_I	143626786	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	In_Frame_Del	DEL	ENST00000264951.4	37	CCDS3123.1																																																																																				XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
MUC4	4585	hgsc.bcm.edu	37	3	195515367	195515414	+	In_Frame_Del	DEL	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	-	rs369312980|rs547775645|rs201510137|rs200193644|rs531942134|rs13060431|rs200400545|rs71180964|rs199583597|rs55868431|rs55803325|rs550428312|rs199702053|rs13065584	byFrequency	TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	GGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr3:195515367_195515414delGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	ENST00000463781.3	-	2	3496_3543	c.3037_3084delAGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACC	c.(3037-3084)agcccttcctcagtatccacaggtcacaccacccctcttcctgtcaccdel	p.SPSSVSTGHTTPLPVT1013del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.SPSSVSTGHTTPLPVT1013del|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	448	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1013_T1028delSPSSVSTGHTTPLPVT(4)|p.S1013G(2)|p.T1022A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCTGGTGACAGGA	0.573																																																	8	Substitution - Missense(4)|Deletion - In frame(4)	stomach(6)|prostate(2)	3																																								196999809	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3037_3084delAGCCCTTCCTCAGTATCCACAGGTCACACCACCCCTCTTCCTGTCACC	3.37:g.195515367_195515414delGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATACTGAGGAAGGGCT	ENSP00000417498:p.Ser1013_Thr1028del	Somatic		Capture	Illumina HiSeq	Phase_I	196999762	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
IP6K3	117283	hgsc.bcm.edu	37	6	33694526	33694535	+	Frame_Shift_Del	DEL	GGTACTCGGA	GGTACTCGGA	-	rs576578939		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	GGTACTCGGA	GGTACTCGGA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr6:33694526_33694535delGGTACTCGGA	ENST00000293756.4	-	4	888_897	c.562_571delTCCGAGTACC	c.(562-573)tccgagtacccafs	p.SEYP188fs	IP6K3_ENST00000451316.1_Frame_Shift_Del_p.SEYP188fs	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	188					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						TTGTTCTCTGGGTACTCGGAGCACAGGCGG	0.610																																																	0			6																																								33802513	SO:0001589	frameshift_variant	117283			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.562_571delTCCGAGTACC	6.37:g.33694526_33694535delGGTACTCGGA	ENSP00000293756:p.Ser188fs	Somatic		Capture	Illumina HiSeq	Phase_I	33802504	Q96MQ9	Frame_Shift_Del	DEL	ENST00000293756.4	37	CCDS34435.1																																																																																				IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111	
TMEM184A	202915	hgsc.bcm.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																																	0			7																																								1553180	SO:0001652	inframe_insertion	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup	Somatic		Capture	Illumina HiSeq	Phase_I	1553179	Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	CCDS43537.1																																																																																				TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689	
RP1L1	94137	hgsc.bcm.edu	37	8	10467681	10467683	+	In_Frame_Del	DEL	TCC	TCC	-	rs386722181		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TCC	TCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr8:10467681_10467683delTCC	ENST00000382483.3	-	4	4148_4150	c.3925_3927delGGA	c.(3925-3927)ggadel	p.G1309del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1326	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ctccttctgttccttcttTAGTT	0.488																																																	0			8																																								10505093	SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3925_3927delGGA	8.37:g.10467681_10467683delTCC	ENSP00000371923:p.Gly1309del	Somatic		Capture	Illumina HiSeq	Phase_I	10505091	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
PDSS1	23590	hgsc.bcm.edu	37	10	27024245	27024247	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TTC	TTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:27024245_27024247delTTC	ENST00000376215.5	+	9	961_963	c.908_910delTTC	c.(907-912)tttcag>tag	p.303_304FQ>*	PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_Intron	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	303					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GGAATAGCTTTTCAGGTTAGTAT	0.429																																																	0			10																																								27064253	SO:0001651	inframe_deletion	23590			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.908_910delTTC	10.37:g.27024245_27024247delTTC	ENSP00000365388:p.Phe303_Gln304delins*	Somatic		Capture	Illumina HiSeq	Phase_I	27064251	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	In_Frame_Del	DEL	ENST00000376215.5	37	CCDS31168.1																																																																																				PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		
PDSS1	23590	hgsc.bcm.edu	37	10	27024250	27024251	+	Splice_Site	DEL	GT	GT	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	GT	GT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:27024250_27024251delGT	ENST00000376215.5	+	9	965		c.e9+1		PDSS1_ENST00000470978.1_Splice_Site|PDSS1_ENST00000376203.5_Intron	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AGCTTTTCAGGTTAGTATGCTT	0.426																																																	0			10																																								27064257	SO:0001630	splice_region_variant	23590			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.912+1GT>-	10.37:g.27024250_27024251delGT		Somatic		Capture	Illumina HiSeq	Phase_I	27064256	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Frame_Shift_Del	DEL	ENST00000376215.5	37	CCDS31168.1																																																																																				PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1		Intron
LIPM	340654	hgsc.bcm.edu	37	10	90580212	90580217	+	In_Frame_Del	DEL	AGGAGG	AGGAGG	-	rs547618888		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	AGGAGG	AGGAGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr10:90580212_90580217delAGGAGG	ENST00000404743.4	+	9	1393_1398	c.1226_1231delAGGAGG	c.(1225-1233)caggaggag>cag	p.EE410del	ANKRD22_ENST00000476963.1_5'Flank|LIPM_ENST00000539337.1_In_Frame_Del_p.EE370del	NM_001128215.1	NP_001121687.1	Q5VYY2	LIPM_HUMAN	lipase, family member M	410					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						CTGATGCAGCAGGAGGAGACCAACCT	0.500																																																	0			10																																								90570197	SO:0001651	inframe_deletion	340654				CCDS44457.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000173239	ENSG00000173239			23455	protein-coding gene	gene with protein product		613923	"""lipase-like, ab-hydrolase domain containing 3"""	LIPL3			Standard	NM_001128215		Approved	bA304I5.1	uc009xtm.1	Q5VYY2	OTTHUMG00000018698	ENST00000404743.4:c.1226_1231delAGGAGG	10.37:g.90580212_90580217delAGGAGG	ENSP00000383901:p.Glu410_Glu411del	Somatic		Capture	Illumina HiSeq	Phase_I	90570192	A6PVS3|B2RXK7|B5MCR3	In_Frame_Del	DEL	ENST00000404743.4	37	CCDS44457.1																																																																																				LIPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049261.3	XM_291663	
CREB3L1	90993	hgsc.bcm.edu	37	11	46329480	46329481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:46329480_46329481insC	ENST00000529193.1	+	3	896_897	c.445_446insC	c.(445-447)gccfs	p.A149fs	CREB3L1_ENST00000288400.3_Frame_Shift_Ins_p.A149fs			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	149	Poly-Ala.				regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCCATGGCTGCCGCGGCCGCC	0.683			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0			11																																								46286057	SO:0001589	frameshift_variant	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.447dupC	11.37:g.46329482_46329482dupC	ENSP00000434939:p.Ala149fs	Somatic		Capture	Illumina HiSeq	Phase_I	46286056	Q8N2D5|Q96CP0	Frame_Shift_Ins	INS	ENST00000529193.1	37	CCDS53620.1																																																																																				CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854	
NDUFS8	4728	hgsc.bcm.edu	37	11	67795378	67795379	+	5'Flank	INS	-	-	C	rs11436139|rs397801590|rs58238184		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:67795378_67795379insC	ENST00000313468.5	+	0	0				RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000007633.8_Splice_Site|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000539229.1_Splice_Site|NDUFS8_ENST00000528492.1_5'Flank|ALDH3B1_ENST00000342456.6_Splice_Site|ALDH3B1_ENST00000434449.1_3'UTR	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGCCATGGAGGCCAAGGCTGCA	0.703													CCC|CC|CCC|deletion	5007	0.9998	0.9992	1.0	5008	,	,		16547	1.0		1.0	False		,,,				2504	1.0				Colon(116;1205 2770 20054)												0			11							,,	4124,30		2052,20,5					,,	-1.9	0.2		dbSNP_120	21	8086,22		4038,10,6	no	frameshift,frameshift,frameshift	ALDH3B1	NM_001161473.1,NM_001030010.1,NM_000694.2	,,	6090,30,11	A1A1,A1R,RR		0.2713,0.7222,0.4241	,,	,,		12210,52				67551955	SO:0001631	upstream_gene_variant	221			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331		11.37:g.67795380_67795380dupC	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	67551954	B2RB86|Q0VDA8	Frame_Shift_Ins	INS	ENST00000313468.5	37	CCDS8176.1																																																																																				NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496	
B3GNT6	192134	hgsc.bcm.edu	37	11	76751542	76751542	+	Frame_Shift_Del	DEL	T	T	-	rs11292198		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:76751542delT	ENST00000533140.1	+	2	1085	c.947delT	c.(946-948)cttfs	p.L316fs	B3GNT6_ENST00000354301.5_Splice_Site_p.L316fs|B3GNT6_ENST00000421061.1_Intron			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						GGCATGTGTCTTGGAGCGCGC	0.741													T|TT|T|insertion	5008	1.0	1.0	1.0	5008	,	,		12582	1.0		1.0	False		,,,				2504	1.0																0			11											1.0	1.0	1.0					11																	76751542		431	917	1348	76429190	SO:0001589	frameshift_variant	192134			AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.947delT	11.37:g.76751542delT	ENSP00000435352:p.Leu316fs	Somatic		Capture	Illumina HiSeq	Phase_I	76429190	Q4TTN0	Frame_Shift_Del	DEL	ENST00000533140.1	37	CCDS53681.1																																																																																				B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706	
CASP5	838	hgsc.bcm.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)	11							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	104383251	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs	Somatic		Capture	Illumina HiSeq	Phase_I	104383251	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
KLHDC2	23588	hgsc.bcm.edu	37	14	50245175	50245175	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr14:50245175delA	ENST00000298307.5	+	6	1457	c.596delA	c.(595-597)gatfs	p.D199fs	KLHDC2_ENST00000554589.1_Frame_Shift_Del_p.D199fs|KLHDC2_ENST00000557247.1_Frame_Shift_Del_p.D199fs	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	199						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					CATATTTTAGATACTGAAACA	0.348																																																	0			14											46.0	50.0	49.0					14																	50245175		2203	4298	6501	49314925	SO:0001589	frameshift_variant	23588			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.596delA	14.37:g.50245175delA	ENSP00000298307:p.Asp199fs	Somatic		Capture	Illumina HiSeq	Phase_I	49314925	B3KPF9|Q6IAF0|Q86TY9	Frame_Shift_Del	DEL	ENST00000298307.5	37	CCDS9693.1																																																																																				KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		
SRCAP	10847	hgsc.bcm.edu	37	16	30733516	30733525	+	Frame_Shift_Del	DEL	ACCTCTCACC	ACCTCTCACC	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	ACCTCTCACC	ACCTCTCACC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:30733516_30733525delACCTCTCACC	ENST00000262518.4	+	22	4000_4009	c.3615_3624delACCTCTCACC	c.(3613-3624)aaacctctcaccfs	p.KPLT1205fs	SRCAP_ENST00000344771.4_Frame_Shift_Del_p.KPLT1109fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.KPLT1205fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1205	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGGGAAGCAAACCTCTCACCTTCCAAATCC	0.571																																																	0			16																																								30641026	SO:0001589	frameshift_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3615_3624delACCTCTCACC	16.37:g.30733516_30733525delACCTCTCACC	ENSP00000262518:p.Lys1205fs	Somatic		Capture	Illumina HiSeq	Phase_I	30641017	B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	ENST00000262518.4	37	CCDS10689.2																																																																																				SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
CDH15	1013	hgsc.bcm.edu	37	16	89259992	89259992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr16:89259992delA	ENST00000289746.2	+	12	2035	c.1970delA	c.(1969-1971)caafs	p.Q657fs		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	657					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TACGATGAGCAAGGAGGCGGG	0.662																																																	0			16											22.0	20.0	21.0					16																	89259992		2176	4286	6462	87787493	SO:0001589	frameshift_variant	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1970delA	16.37:g.89259992delA	ENSP00000289746:p.Gln657fs	Somatic		Capture	Illumina HiSeq	Phase_I	87787493		Frame_Shift_Del	DEL	ENST00000289746.2	37	CCDS10976.1																																																																																				CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
SLC35G6	643664	hgsc.bcm.edu	37	17	7385827	7385840	+	Frame_Shift_Del	DEL	CTGGACTCTGGACA	CTGGACTCTGGACA	-	rs372476896|rs548321934		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	CTGGACTCTGGACA	CTGGACTCTGGACA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:7385827_7385840delCTGGACTCTGGACA	ENST00000412468.2	+	2	639_652	c.524_537delCTGGACTCTGGACA	c.(523-537)cctggactctggacafs	p.PGLWT175fs	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|ZBTB4_ENST00000380599.4_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	175						integral component of membrane (GO:0016021)											ATTGTGGGACCTGGACTCTGGACACTACAGGAGG	0.603																																																	0			17																																								7326564	SO:0001589	frameshift_variant	643664				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.524_537delCTGGACTCTGGACA	17.37:g.7385827_7385840delCTGGACTCTGGACA	ENSP00000396523:p.Pro175fs	Somatic		Capture	Illumina HiSeq	Phase_I	7326551		Frame_Shift_Del	DEL	ENST00000412468.2	37	CCDS45603.1																																																																																				SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614	
TP53	7157	hgsc.bcm.edu	37	17	7578436	7578439	+	Frame_Shift_Del	DEL	TGCT	TGCT	-			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TGCT	TGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:7578436_7578439delTGCT	ENST00000269305.4	-	5	680_683	c.491_494delAGCA	c.(490-495)aagcagfs	p.KQ164fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.KQ164fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.KQ164fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KQ164fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.KQ164fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.KQ164fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	164	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q165*(24)|p.0?(8)|p.K164N(6)|p.K164M(4)|p.Q165L(3)|p.Q165R(2)|p.Q165P(2)|p.K164K(2)|p.K164fs*5(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Q165E(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.Q165fs*16(1)|p.K164fs*17(1)|p.Q165fs*4(1)|p.Q165del(1)|p.K164R(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCTGTGACTGCTTGTAGATGGC	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	72	Substitution - Nonsense(24)|Substitution - Missense(21)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(2)|Substitution - coding silent(2)|Insertion - In frame(1)	oesophagus(15)|breast(11)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|lung(5)|upper_aerodigestive_tract(4)|stomach(4)|soft_tissue(4)|central_nervous_system(4)|bone(4)|salivary_gland(2)|pancreas(2)|urinary_tract(1)|skin(1)|prostate(1)	17																																								7519164	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.491_494delAGCA	17.37:g.7578436_7578439delTGCT	ENSP00000269305:p.Lys164fs	Somatic		Capture	Illumina HiSeq	Phase_I	7519161	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
OTOP3	347741	hgsc.bcm.edu	37	17	72938094	72938095	+	In_Frame_Ins	INS	-	-	TCT			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr17:72938094_72938095insTCT	ENST00000328801.4	+	3	589_590	c.589_590insTCT	c.(589-591)gtc>gTCTtc	p.198_199insF		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	198			S -> P (in dbSNP:rs1542752).			integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCTGGACCTTGTCTTCTCTGTC	0.559																																																	0			17																																								70449690	SO:0001652	inframe_insertion	347741			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.593_595dupTCT	17.37:g.72938098_72938100dupTCT	ENSP00000328090:p.Phe198_Phe198dup	Somatic		Capture	Illumina HiSeq	Phase_I	70449689		In_Frame_Ins	INS	ENST00000328801.4	37	CCDS11709.1																																																																																				OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
DSCAM	1826	hgsc.bcm.edu	37	21	41423988	41424001	+	Frame_Shift_Del	DEL	TGCCTCTCCAAAGT	TGCCTCTCCAAAGT	-	rs374542622		TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	TGCCTCTCCAAAGT	TGCCTCTCCAAAGT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr21:41423988_41424001delTGCCTCTCCAAAGT	ENST00000400454.1	-	30	5546_5559	c.5069_5082delACTTTGGAGAGGCA	c.(5068-5082)gactttggagaggcafs	p.DFGEA1690fs		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1690					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1690A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTGCTTAGCTGCCTCTCCAAAGTCAGCATCCGT	0.547																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	ovary(1)	21																																								40345871	SO:0001589	frameshift_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5069_5082delACTTTGGAGAGGCA	21.37:g.41423988_41424001delTGCCTCTCCAAAGT	ENSP00000383303:p.Asp1690fs	Somatic		Capture	Illumina HiSeq	Phase_I	40345858	O60468	Frame_Shift_Del	DEL	ENST00000400454.1	37	CCDS42929.1																																																																																				DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
PES1	23481	hgsc.bcm.edu	37	22	30974933	30974934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chr22:30974933_30974934insC	ENST00000405677.1	-	16	2099_2100	c.1156_1157insG	c.(1156-1158)gccfs	p.A386fs	PES1_ENST00000402281.1_Frame_Shift_Ins_p.A386fs|PES1_ENST00000335214.6_Frame_Shift_Ins_p.A520fs|PES1_ENST00000354694.7_Frame_Shift_Ins_p.A525fs|PES1_ENST00000402284.3_Frame_Shift_Ins_p.A508fs	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CTCCTCCTGGGCCAGCCGCTGC	0.574																																																	0			22																																								29304934	SO:0001589	frameshift_variant	23481			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1157dupG	22.37:g.30974935_30974935dupC	ENSP00000385654:p.Ala386fs	Somatic		Capture	Illumina HiSeq	Phase_I	29304933		Frame_Shift_Ins	INS	ENST00000405677.1	37																																																																																					PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303	
ATP7A	538	hgsc.bcm.edu	37	X	77284798	77284799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AG-3732-01A-11D-1657-10	TCGA-AG-3732-11A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a627bd7-6de9-42dd-8e31-7a1985e9d9a3	7c5a47b4-4ea6-42cc-8e3f-8150c231f796	g.chrX:77284798_77284799insA	ENST00000341514.6	+	15	3123_3124	c.2968_2969insA	c.(2968-2970)caafs	p.Q990fs	ATP7A_ENST00000343533.5_Frame_Shift_Ins_p.Q912fs|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	990					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTTGCTTTCCAAGCCTCTATC	0.431																																																	0			X																																								77171455	SO:0001589	frameshift_variant	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2970dupA	X.37:g.77284800_77284800dupA	ENSP00000345728:p.Gln990fs	Somatic		Capture	Illumina HiSeq	Phase_I	77171454	B1AT72|O00227|O00745|Q9BYY8	Frame_Shift_Ins	INS	ENST00000341514.6	37	CCDS35339.1																																																																																				ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
