#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVarCov_SOL	i_Transcript_Id	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_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
UBE3A	7337	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	25599825	25599825	+	Frame_Shift_Del	DEL	A	A	-			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:25599825delA	ENST00000397954.2	-	8	2138	c.2139delT	c.(2137-2139)tttfs	p.F713fs	UBE3A_ENST00000428984.2_Frame_Shift_Del_p.F690fs|UBE3A_ENST00000566215.1_Frame_Shift_Del_p.F690fs|UBE3A_ENST00000438097.1_Frame_Shift_Del_p.F690fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Frame_Shift_Del_p.F710fs			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	713					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AAAGATTGACAAATTCCTGTA	0.318																																					p.V714fs		.											.	.	.	0			c.2140delG						.						34.0	35.0	34.0					15																	25599825		2200	4294	6494	SO:0001589	frameshift_variant	7337	exon11			ATTGACAAATTCC	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2139delT	15.37:g.25599825delA	ENSP00000381045:p.Phe713fs	Somatic	115	0		WXS	Illumina HiSeq	.	70	17	NM_000462	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Frame_Shift_Del	DEL	ENST00000397954.2	37	CCDS45192.1																																																																																			.		0.318	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
UBA5	79876	hgsc.bcm.edu	37	3	132395425	132395426	+	3'UTR	INS	-	-	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:132395425_132395426insA	ENST00000356232.4	+	0	2342_2343				UBA5_ENST00000473651.1_3'UTR|UBA5_ENST00000264991.4_3'UTR|UBA5_ENST00000493720.2_Intron|UBA5_ENST00000494238.2_3'UTR	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5						protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCTTGAAATTAAAAAAAAATT	0.312																																					.		.											.	.	.	0			.						.																																			SO:0001624	3_prime_UTR_variant	79876	.			TGAAATTAAAAAA	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.*56->A	3.37:g.132395434_132395434dupA		Somatic	15	0		WXS	Illumina HiSeq	.	24	11	.	A6NJL3|D3DNC8|Q96ST1	RNA	INS	ENST00000356232.4	37	CCDS3076.1																																																																																			.		0.312	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818	
TTC3	7267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	38460547	38460547	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr21:38460547A>G	ENST00000399017.2	+	4	2986	c.239A>G	c.(238-240)gAt>gGt	p.D80G	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.D80G|TTC3_ENST00000354749.2_Missense_Mutation_p.D80G|TTC3_ENST00000399010.1_Missense_Mutation_p.D80G	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	80					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTCCTGCAAGATTATTGCGAT	0.338																																					p.D80G	Ovarian(38;194 1649 35661)	.											.	.	.	0			c.A239G						.						84.0	75.0	78.0					21																	38460547		2203	4300	6503	SO:0001583	missense	7267	exon4			TGCAAGATTATTG	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.239A>G	21.37:g.38460547A>G	ENSP00000381981:p.Asp80Gly	Somatic	27	0		WXS	Illumina HiSeq	.	32	10	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878199	0.51801	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.52295	2.5;0.67;2.5;2.81;2.81;2.81	4.82	4.82	0.62117	.	0.233723	0.29300	N	0.012558	T	0.45357	0.1338	L	0.56769	1.78	0.80722	D	1	B	0.18741	0.03	B	0.18561	0.022	T	0.47611	-0.9104	10	0.87932	D	0	-8.7404	12.1989	0.54313	1.0:0.0:0.0:0.0	.	80	P53804	TTC3_HUMAN	G	80	ENSP00000403943:D80G;ENSP00000408456:D80G;ENSP00000391891:D80G;ENSP00000347889:D80G;ENSP00000381981:D80G;ENSP00000346791:D80G	ENSP00000346791:D80G	D	+	2	0	TTC3	37382417	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.023000	0.64084	1.911000	0.55334	0.455000	0.32223	GAT	.		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
PPCS	79717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	42925444	42925444	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:42925444G>C	ENST00000372561.3	+	3	790	c.783G>C	c.(781-783)gaG>gaC	p.E261D	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Missense_Mutation_p.E88D|PPCS_ENST00000455780.1_Missense_Mutation_p.E88D|PPCS_ENST00000372556.3_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	261					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTTGAGTCACGACAGT	0.408																																					p.E261D		.											.	.	.	0			c.G783C						.						125.0	118.0	121.0					1																	42925444		1871	4105	5976	SO:0001583	missense	79717	exon3			CCTTGAGTCACGA	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.783G>C	1.37:g.42925444G>C	ENSP00000361642:p.Glu261Asp	Somatic	90	0		WXS	Illumina HiSeq	.	92	16	NM_024664	Q3KQT2|Q5VVM0	Missense_Mutation	SNP	ENST00000372561.3	37	CCDS41311.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651509	0.29336	.	.	ENSG00000127125	ENST00000372562;ENST00000455780;ENST00000372561	.	.	.	6.01	1.39	0.22231	DNA/pantothenate metabolism flavoprotein, C-terminal (3);	0.140265	0.64402	N	0.000005	T	0.21347	0.0514	N	0.10945	0.07	0.33310	D	0.565991	B	0.09022	0.002	B	0.15870	0.014	T	0.10382	-1.0632	9	0.20046	T	0.44	-7.2022	4.0835	0.09937	0.1943:0.0:0.3015:0.5042	.	261	Q9HAB8	PPCS_HUMAN	D	88;88;261	.	ENSP00000361642:E261D	E	+	3	2	PPCS	42698031	0.890000	0.30428	0.999000	0.59377	0.993000	0.82548	-0.010000	0.12743	0.382000	0.24878	-0.157000	0.13467	GAG	.		0.408	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664	
TPTE2P5	100616668	hgsc.bcm.edu	37	13	41438382	41438382	+	IGR	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:41438382A>G								TPTE2P5 (9255 upstream) : SUGT1P3 (47640 downstream)																							GGCAATAGCTAGAAAAAATAG	0.294																																					.		.											.	.	.	0			.						.																																			SO:0001628	intergenic_variant	100616668	.			ATAGCTAGAAAAA																													13.37:g.41438382A>G		Somatic	53	0		WXS	Illumina HiSeq	.	46	6	.		RNA	SNP		37																																																																																				.	0	0.294								
DLG2	1740	hgsc.bcm.edu	37	11	84865696	84865696	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:84865696C>A	ENST00000376104.2	-	5	498		c.e5-1		DLG2_ENST00000543673.1_Splice_Site	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCTGTAAGCTAAAATAAAA	0.274																																					.		.											DLG2_ENST00000376104,NS,carcinoma,0,1	DLG2_ENST00000376104	0	1	Unknown(1)	endometrium(1)	c.187-1G>T						.						73.0	61.0	65.0					11																	84865696		1354	3052	4406	SO:0001630	splice_region_variant	1740	exon6			TGTAAGCTAAAAT	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.187-1G>T	11.37:g.84865696C>A		Somatic	20	0		WXS	Illumina HiSeq	.	19	2	NM_001142699	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Splice_Site	SNP	ENST00000376104.2	37	CCDS44690.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039525	0.35989	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6096	0.62068	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG2	84543344	0.985000	0.35326	0.921000	0.36526	0.395000	0.30598	3.296000	0.51802	2.601000	0.87937	0.563000	0.77884	.	.		0.274	DLG2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259245.3	NM_001364	Intron
ZNF609	23060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	64968453	64968453	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:64968453C>A	ENST00000326648.3	+	4	3528	c.3400C>A	c.(3400-3402)Cag>Aag	p.Q1134K		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1134						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGTACCGACAGGTAACTGT	0.517																																					p.Q1134K		.											.	.	.	0			c.C3400A						.						49.0	54.0	53.0					15																	64968453		2121	4238	6359	SO:0001583	missense	23060	exon4			TACCGACAGGTAA	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3400C>A	15.37:g.64968453C>A	ENSP00000316527:p.Gln1134Lys	Somatic	45	0		WXS	Illumina HiSeq	.	35	12	NM_015042	Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305652	0.95601	.	.	ENSG00000180357	ENST00000326648	T	0.55760	0.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.64404	1.975	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.68864	-0.5296	10	0.41790	T	0.15	-13.1949	19.1573	0.93516	0.0:1.0:0.0:0.0	.	1134	O15014	ZN609_HUMAN	K	1134	ENSP00000316527:Q1134K	ENSP00000316527:Q1134K	Q	+	1	0	ZNF609	62755506	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.453000	0.80700	2.520000	0.84964	0.655000	0.94253	CAG	.		0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
SAA3P	6290	hgsc.bcm.edu	37	11	18134705	18134705	+	RNA	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:18134705C>T	ENST00000534768.1	-	0	276					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						CTGATCACTTCTGTAGCCCAG	0.473																																					.		.											SAA3P,NS,carcinoma,0,1	SAA3P	0	0			.						.																																					6290	.			TCACTTCTGTAGC	S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18134705C>T		Somatic	54	0		WXS	Illumina HiSeq	.	39	2	.		RNA	SNP	ENST00000534768.1	37																																																																																				.		0.473	SAA3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000389765.1		
NOL9	79707	hgsc.bcm.edu	37	1	6609749	6609749	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:6609749C>T	ENST00000377705.5	-	3	658	c.626G>A	c.(625-627)cGt>cAt	p.R209H		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	209					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CATCGACCAACGCCTGTCATC	0.423																																					p.R209H		.											NOL9,NS,carcinoma,0,2	NOL9	0	0			c.G626A						.						116.0	109.0	112.0					1																	6609749		2203	4300	6503	SO:0001583	missense	79707	exon3			GACCAACGCCTGT	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.626G>A	1.37:g.6609749C>T	ENSP00000366934:p.Arg209His	Somatic	38	0		WXS	Illumina HiSeq	.	30	2	NM_024654	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295477	0.05532	.	.	ENSG00000162408	ENST00000377705	T	0.18502	2.21	5.74	-5.24	0.02789	.	1.369990	0.04223	N	0.333918	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	1	P	0.48162	0.906	B	0.30572	0.117	T	0.39272	-0.9622	10	0.15499	T	0.54	-6.1423	1.5806	0.02633	0.128:0.1956:0.3267:0.3497	.	209	Q5SY16	NOL9_HUMAN	H	209	ENSP00000366934:R209H	ENSP00000366934:R209H	R	-	2	0	NOL9	6532336	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.227000	0.09126	-0.463000	0.06973	-0.192000	0.12808	CGT	.		0.423	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	
TDG	6996	hgsc.bcm.edu	37	12	104374675	104374675	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:104374675G>A	ENST00000392872.3	+	4	647	c.413G>A	c.(412-414)gGc>gAc	p.G138D	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.G134D	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	138					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTATAGATTGGCATAAACCCG	0.358								Base excision repair (BER), DNA glycosylases																													p.G138D		.											.	.	.	0			c.G413A						.						153.0	149.0	151.0					12																	104374675		2203	4300	6503	SO:0001583	missense	6996	exon4			AGATTGGCATAAA	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.413G>A	12.37:g.104374675G>A	ENSP00000376611:p.Gly138Asp	Somatic	98	0		WXS	Illumina HiSeq	.	79	4	NM_003211	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836676	0.91117	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.71	4.71	0.59529	Uracil-DNA glycosylase-like (3);	0.050714	0.85682	D	0.000000	D	0.95373	0.8498	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96304	0.9223	10	0.87932	D	0	-15.1194	18.0272	0.89272	0.0:0.0:1.0:0.0	.	138;138	B2R848;Q13569	.;TDG_HUMAN	D	138;113;134;138	ENSP00000376611:G138D;ENSP00000390167:G113D;ENSP00000266775:G134D;ENSP00000439825:G138D	ENSP00000266775:G134D	G	+	2	0	TDG	102898805	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.657000	0.83745	2.328000	0.79073	0.557000	0.71058	GGC	.		0.358	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		
MTM1	4534	hgsc.bcm.edu	37	X	149814336	149814336	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:149814336G>A	ENST00000370396.2	+	9	913	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	MTM1_ENST00000542741.1_Missense_Mutation_p.A192T|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.A172T|MTM1_ENST00000413012.2_Missense_Mutation_p.A250T	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGTGGCCAACAAGGT	0.378																																					p.A287T		.											.	.	.	0			c.G859A						.						95.0	81.0	86.0					X																	149814336		2203	4300	6503	SO:0001583	missense	4534	exon9			GCAGTGGCCAACA	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.859G>A	X.37:g.149814336G>A	ENSP00000359423:p.Ala287Thr	Somatic	49	0		WXS	Illumina HiSeq	.	45	3	NM_000252	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041720	0.75732	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.78	5.78	0.91487	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.049572	0.85682	D	0.000000	D	0.93400	0.7895	M	0.64676	1.99	0.80722	D	1	P;B	0.41214	0.742;0.092	P;B	0.53689	0.732;0.191	D	0.91797	0.5448	10	0.33141	T	0.24	.	19.0341	0.92970	0.0:0.0:1.0:0.0	.	250;287	B7Z491;Q13496	.;MTM1_HUMAN	T	287;192;172;250	ENSP00000359423:A287T;ENSP00000444015:A192T;ENSP00000439784:A172T;ENSP00000389157:A250T	ENSP00000359423:A287T	A	+	1	0	MTM1	149564994	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.822000	0.99363	2.444000	0.82710	0.594000	0.82650	GCC	.		0.378	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
COL8A2	1296	hgsc.bcm.edu;bcgsc.ca	37	1	36565684	36565684	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:36565684G>T	ENST00000397799.1	-	3	384	c.160C>A	c.(160-162)Ccg>Acg	p.P54T	COL8A2_ENST00000303143.4_Missense_Mutation_p.P54T|COL8A2_ENST00000481785.1_Intron			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	54	Nonhelical region (NC2).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGAAGGGCGGTCCCACAGGT	0.682											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P54T		.											.	.	.	0			c.C160A						.						62.0	61.0	61.0					1																	36565684		2203	4300	6503	SO:0001583	missense	1296	exon1			AGGGCGGTCCCAC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.160C>A	1.37:g.36565684G>T	ENSP00000380901:p.Pro54Thr	Somatic	54	0	863	WXS	Illumina HiSeq	.	49	4	NM_005202	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649381	0.67358	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000373172	D;D	0.91011	-2.77;-2.77	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	L	0.28740	0.885	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86637	0.1889	10	0.09843	T	0.71	.	14.8616	0.70387	0.0:0.0:1.0:0.0	.	54	P25067	CO8A2_HUMAN	T	54	ENSP00000305913:P54T;ENSP00000380901:P54T	ENSP00000305913:P54T	P	-	1	0	COL8A2	36338271	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.551000	0.90678	2.282000	0.76494	0.491000	0.48974	CCG	.		0.682	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202	
C1orf27	54953	hgsc.bcm.edu	37	1	186357525	186357525	+	Intron	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:186357525T>C	ENST00000287859.6	+	5	455				C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27							integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AACACTCATCTTTTTTTTTCA	0.308																																					.		.											.	.	.	0			.						.						17.0	15.0	16.0					1																	186357525		1744	3944	5688	SO:0001627	intron_variant	100302192	.			CTCATCTTTTTTT	BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.331-49T>C	1.37:g.186357525T>C		Somatic	45	0		WXS	Illumina HiSeq	.	47	4	.	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	RNA	SNP	ENST00000287859.6	37	CCDS53448.1																																																																																			.		0.308	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847	
SERPINB13	5275	hgsc.bcm.edu	37	18	61260205	61260205	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:61260205G>T	ENST00000344731.5	+	5	574	c.472G>T	c.(472-474)Gaa>Taa	p.E158*	SERPINB13_ENST00000269489.5_Splice_Site_p.E158*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	158					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E158*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAAACAAATGGTAGAGTATG	0.363																																					p.E158X		.											SERPINB13,NS,carcinoma,0,1	SERPINB13	0	1	Substitution - Nonsense(1)	lung(1)	c.G472T						.						93.0	102.0	99.0					18																	61260205		2202	4300	6502	SO:0001630	splice_region_variant	5275	exon5			ACAAATGGTAGAG	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.472+1G>T	18.37:g.61260205G>T		Somatic	49	0		WXS	Illumina HiSeq	.	40	2	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222472	0.95139	.	.	ENSG00000197641	ENST00000269489;ENST00000344731	.	.	.	5.63	5.63	0.86233	.	2.041630	0.01921	N	0.040503	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0307	0.92955	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	.	E	+	1	0	SERPINB13	59411185	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.279000	0.65597	2.812000	0.96745	0.555000	0.69702	GAA	.		0.363	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	Nonsense_Mutation
YOD1	55432	hgsc.bcm.edu;bcgsc.ca	37	1	207223000	207223000	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:207223000C>A	ENST00000315927.4	-	2	458	c.412G>T	c.(412-414)Gct>Tct	p.A138S	YOD1_ENST00000367084.1_Missense_Mutation_p.A94S|YOD1_ENST00000391927.1_Missense_Mutation_p.A94S|PFKFB2_ENST00000411990.2_Intron	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	138					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TAACTAGAAGCACCACGTTTA	0.453																																					p.A138S		.											.	.	.	0			c.G412T						.						63.0	54.0	57.0					1																	207223000		2203	4300	6503	SO:0001583	missense	55432	exon2			TAGAAGCACCACG		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.412G>T	1.37:g.207223000C>A	ENSP00000326813:p.Ala138Ser	Somatic	81	0		WXS	Illumina HiSeq	.	94	5	NM_018566	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	C	6.237	0.411921	0.11812	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	5.83	5.83	0.93111	.	0.343097	0.30611	N	0.009257	T	0.30479	0.0766	L	0.44542	1.39	0.80722	D	1	P;P	0.44734	0.763;0.842	B;B	0.33392	0.163;0.13	T	0.09400	-1.0676	9	0.14252	T	0.57	-4.1157	8.0002	0.30293	0.0:0.7506:0.163:0.0864	.	94;138	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	S	94;138;94	.	ENSP00000326813:A138S	A	-	1	0	YOD1	205289623	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.428000	0.52792	2.756000	0.94617	0.655000	0.94253	GCT	.		0.453	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566	
PSG5	5673	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	43674291	43674291	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:43674291C>T	ENST00000366175.3	-	5	1095		c.e5-1		PSG5_ENST00000407356.1_Splice_Site|PSG5_ENST00000407568.1_Splice_Site|PSG5_ENST00000599812.1_Splice_Site|PSG5_ENST00000342951.6_Splice_Site			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCTGAAGGAGCTGTCATGGAA	0.423																																					.		.											.	.	.	0			c.965-1G>A						.						126.0	122.0	123.0					19																	43674291		2202	4295	6497	SO:0001630	splice_region_variant	5673	exon6			AAGGAGCTGTCAT		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.965-1G>A	19.37:g.43674291C>T		Somatic	60	0		WXS	Illumina HiSeq	.	62	5	NM_002781	Q15239|Q96QJ1|Q9UQ75	Splice_Site	SNP	ENST00000366175.3	37	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	c	3.216	-0.160506	0.06502	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951	.	.	.	1.63	0.527	0.17084	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0084	0.09611	0.0:0.7639:0.0:0.2361	.	.	.	.	.	-1	.	.	.	-	.	.	PSG5	48366131	0.044000	0.20184	0.010000	0.14722	0.040000	0.13550	0.266000	0.18534	0.247000	0.21414	0.184000	0.17185	.	.		0.423	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	Intron
CFI	3426	hgsc.bcm.edu	37	4	110663684	110663684	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:110663684G>A	ENST00000394634.2	-	12	1704	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y	CFI_ENST00000394635.3_Silent_p.Y507Y|CFI_ENST00000512148.1_Silent_p.Y492Y	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	499	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y499Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AACGATTTCCGTAAAACTTAG	0.358																																					p.Y499Y		.											CFI,colon,NS,0,1	CFI	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497T						.						122.0	115.0	118.0					4																	110663684		2202	4299	6501	SO:0001819	synonymous_variant	3426	exon12			ATTTCCGTAAAAC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1497C>T	4.37:g.110663684G>A		Somatic	63	0		WXS	Illumina HiSeq	.	34	2	NM_000204	O60442	Silent	SNP	ENST00000394634.2	37	CCDS34049.1																																																																																			.		0.358	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
VPS52	6293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:33236870G>A	ENST00000445902.2	-	6	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCGAAGTCGAATGTTCATG	0.537																																					p.R157X		.											.	.	.	0			c.C469T						.						228.0	217.0	221.0					6																	33236870		1511	2709	4220	SO:0001587	stop_gained	6293	exon6			GAAGTCGAATGTT	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.469C>T	6.37:g.33236870G>A	ENSP00000409952:p.Arg157*	Somatic	39	0		WXS	Illumina HiSeq	.	39	13	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	38	6.959857	0.97964	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.0	5.0	0.66597	.	0.056566	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-11.008	11.1191	0.48277	0.0:0.0:0.8157:0.1843	.	.	.	.	X	157;135;32	.	ENSP00000414785:R135X	R	-	1	2	VPS52	33344848	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.760000	0.38430	2.776000	0.95493	0.573000	0.79308	CGA	.		0.537	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
HS3ST4	9951	hgsc.bcm.edu	37	16	26147094	26147094	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:26147094C>T	ENST00000331351.5	+	2	1288	c.896C>T	c.(895-897)aCg>aTg	p.T299M	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	299					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCTGACTACACGCAGACACTG	0.547																																					p.T299M		.											HS3ST4_ENST00000331351,NS,carcinoma,0,4	HS3ST4_ENST00000331351	0	0			c.C896T						.						150.0	140.0	143.0					16																	26147094		1568	3582	5150	SO:0001583	missense	9951	exon2			ACTACACGCAGAC	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.896C>T	16.37:g.26147094C>T	ENSP00000330606:p.Thr299Met	Somatic	26	0		WXS	Illumina HiSeq	.	28	2	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512321	0.85389	.	.	ENSG00000182601	ENST00000331351	D	0.82893	-1.66	5.11	5.11	0.69529	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000001	D	0.92018	0.7471	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93296	0.6672	10	0.87932	D	0	.	17.5178	0.87779	0.0:1.0:0.0:0.0	.	299	Q9Y661	HS3S4_HUMAN	M	299	ENSP00000330606:T299M	ENSP00000330606:T299M	T	+	2	0	HS3ST4	26054595	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.783000	0.85696	2.375000	0.81037	0.655000	0.94253	ACG	.		0.547	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
PLEKHA3	65977	hgsc.bcm.edu	37	2	179372484	179372484	+	3'UTR	SNP	C	C	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:179372484C>G	ENST00000234453.5	+	0	5175					NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			gattttaaggctttacaggtc	0.318																																					.		.											.	.	.	0			.						.						115.0	99.0	103.0					2																	179372484		692	1591	2283	SO:0001624	3_prime_UTR_variant	100302152	.			TTAAGGCTTTACA	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.*3870C>G	2.37:g.179372484C>G		Somatic	68	0		WXS	Illumina HiSeq	.	53	16	.	Q4ZG69|Q86TQ1|Q9NXT3	RNA	SNP	ENST00000234453.5	37	CCDS33336.1																																																																																			.		0.318	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	
PTH2	113091	hgsc.bcm.edu;broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041				p.L22V		.											PTH2,NS,carcinoma,0,9	PTH2	0	2	Substitution - Missense(2)	endometrium(2)	c.C64G						.		VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091	exon1			CCACCAGCAGCAG	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val	Somatic	71	1		WXS	Illumina HiSeq	.	66	5	NM_178449	Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG	.		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449	
PSMF1	9491	hgsc.bcm.edu	37	20	1108090	1108090	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr20:1108090G>A	ENST00000335877.6	+	3	480	c.304G>A	c.(304-306)Gca>Aca	p.A102T	PSMF1_ENST00000333082.3_Missense_Mutation_p.A102T|PSMF1_ENST00000438768.2_Missense_Mutation_p.A102T|PSMF1_ENST00000381898.4_Missense_Mutation_p.A14T|PSMF1_ENST00000246015.4_Missense_Mutation_p.A102T	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	102	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ACAGCAAGTGGCAGACTTGAC	0.448																																					p.A102T		.											PSMF1,caecum,carcinoma,0,1	PSMF1	0	0			c.G304A						.						133.0	135.0	135.0					20																	1108090		2203	4300	6503	SO:0001583	missense	9491	exon3			CAAGTGGCAGACT	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.304G>A	20.37:g.1108090G>A	ENSP00000338039:p.Ala102Thr	Somatic	46	0		WXS	Illumina HiSeq	.	46	2	NM_006814	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743730	0.49151	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.64	2.47	0.30058	.	0.540417	0.19004	N	0.125249	T	0.17450	0.0419	N	0.11560	0.145	0.26849	N	0.968215	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.08055	0.002;0.001;0.003;0.002	T	0.24835	-1.0149	10	0.08599	T	0.76	-1.6252	4.6091	0.12392	0.2073:0.0:0.5546:0.2382	.	102;14;102;102	E7ER20;F5H4Z3;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	T	102;14;102;14;102;102;102	ENSP00000327704:A102T;ENSP00000371323:A14T;ENSP00000371324:A102T;ENSP00000246015:A102T;ENSP00000338039:A102T;ENSP00000401404:A102T	ENSP00000246015:A102T	A	+	1	0	PSMF1	1056090	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.827000	0.39102	0.340000	0.23745	0.650000	0.86243	GCA	.		0.448	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	
TTBK1	84630	hgsc.bcm.edu	37	6	43222295	43222295	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:43222295C>T	ENST00000259750.4	+	6	565	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TTBK1_ENST00000304139.5_Missense_Mutation_p.A110V	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCAAACTTTGCCATGGGCAGG	0.632																																					p.A161V		.											TTBK1,NS,carcinoma,0,1	TTBK1	0	0			c.C482T						.						51.0	51.0	51.0					6																	43222295		2203	4300	6503	SO:0001583	missense	84630	exon6			ACTTTGCCATGGG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.482C>T	6.37:g.43222295C>T	ENSP00000259750:p.Ala161Val	Somatic	49	0		WXS	Illumina HiSeq	.	24	2	NM_032538	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822434	0.71028	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.63580	-0.05	5.2	4.33	0.51752	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171092	0.51477	D	0.000099	T	0.60483	0.2272	L	0.33245	0.995	0.50813	D	0.999897	D	0.71674	0.998	D	0.70487	0.969	T	0.67130	-0.5748	10	0.66056	D	0.02	.	14.0992	0.65044	0.1518:0.8482:0.0:0.0	.	161	Q5TCY1	TTBK1_HUMAN	V	110;161;110	ENSP00000259750:A161V	ENSP00000259750:A161V	A	+	2	0	TTBK1	43330273	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.423000	0.80229	1.182000	0.42928	0.655000	0.94253	GCC	.		0.632	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
ZNF99	7652	hgsc.bcm.edu	37	19	22940945	22940945	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:22940945C>A	ENST00000596209.1	-	4	1856	c.1766G>T	c.(1765-1767)gGg>gTg	p.G589V	ZNF99_ENST00000397104.3_Missense_Mutation_p.G498V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGGTTTCTCCCCAGTATGAAT	0.358																																					p.G589V		.											ZNF99,right_upper_lobe,carcinoma,0,2	ZNF99	0	0			c.G1766T						.						49.0	53.0	51.0					19																	22940945		2077	4237	6314	SO:0001583	missense	7652	exon4			TTCTCCCCAGTAT	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1766G>T	19.37:g.22940945C>A	ENSP00000472969:p.Gly589Val	Somatic	55	0		WXS	Illumina HiSeq	.	54	3	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.053589	0.36277	.	.	ENSG00000213973	ENST00000397104	T	0.01599	4.74	1.16	1.16	0.20824	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04679	0.0127	L	0.54908	1.71	0.58432	D	0.999997	D	0.62365	0.991	P	0.60345	0.873	T	0.48387	-0.9040	9	0.59425	D	0.04	.	6.2009	0.20575	0.2962:0.7038:0.0:0.0	.	498	A8MXY4	ZNF99_HUMAN	V	498	ENSP00000380293:G498V	ENSP00000380293:G498V	G	-	2	0	ZNF99	22732785	0.188000	0.23250	0.026000	0.17262	0.060000	0.15804	1.705000	0.37867	0.597000	0.29811	0.194000	0.17425	GGG	.		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
CSGALNACT2	55454	hgsc.bcm.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs79064394		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					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)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																					p.L362F		.											CSGALNACT2,NS,carcinoma,0,5	CSGALNACT2	0	5	Substitution - Missense(5)	endometrium(4)|kidney(1)	c.G1086T						.						223.0	221.0	222.0					10																	43659419		2203	4300	6503	SO:0001583	missense	55454	exon5			GGTCTTGATGTTT	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.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe	Somatic	57	0		WXS	Illumina HiSeq	.	78	4	NM_018590	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	.		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
ZNF99	7652	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	22940952	22940952	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:22940952G>T	ENST00000596209.1	-	4	1849	c.1759C>A	c.(1759-1761)Cat>Aat	p.H587N	ZNF99_ENST00000397104.3_Missense_Mutation_p.H496N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	587					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCCAGTATGAATTGCTTTA	0.358																																					p.H587N		.											.	.	.	0			c.C1759A						.						50.0	53.0	52.0					19																	22940952		2075	4234	6309	SO:0001583	missense	7652	exon4			CAGTATGAATTGC	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1759C>A	19.37:g.22940952G>T	ENSP00000472969:p.His587Asn	Somatic	52	0		WXS	Illumina HiSeq	.	53	5	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.725876	0.30593	.	.	ENSG00000213973	ENST00000397104	T	0.67345	-0.26	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83418	0.5250	M	0.93808	3.46	0.37450	D	0.914772	D	0.89917	1.0	D	0.91635	0.999	D	0.85527	0.1207	9	0.87932	D	0	.	9.2264	0.37410	0.0:0.0:1.0:0.0	.	496	A8MXY4	ZNF99_HUMAN	N	496	ENSP00000380293:H496N	ENSP00000380293:H496N	H	-	1	0	ZNF99	22732792	0.997000	0.39634	0.011000	0.14972	0.045000	0.14185	4.231000	0.58639	0.597000	0.29811	0.194000	0.17425	CAT	.		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
CLEC14A	161198	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	38724339	38724339	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr14:38724339C>T	ENST00000342213.2	-	1	1235	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	297						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGGTCCCCCCAAGGGTCGGC	0.667																																					p.G297R		.											.	.	.	0			c.G889A						.						39.0	45.0	43.0					14																	38724339		2200	4296	6496	SO:0001583	missense	161198	exon1			TCCCCCCAAGGGT		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.889G>A	14.37:g.38724339C>T	ENSP00000353013:p.Gly297Arg	Somatic	27	0		WXS	Illumina HiSeq	.	12	6	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919848	0.33908	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.77620	-1.11	3.84	2.89	0.33648	.	0.341025	0.20056	N	0.100186	T	0.62319	0.2418	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.18561	0.022	T	0.52917	-0.8511	10	0.45353	T	0.12	-0.583	6.2412	0.20791	0.0:0.8508:0.0:0.1492	.	297	Q86T13	CLC14_HUMAN	R	297;62	ENSP00000353013:G297R	ENSP00000353013:G297R	G	-	1	0	CLEC14A	37794090	0.010000	0.17322	0.002000	0.10522	0.002000	0.02628	2.353000	0.44089	1.120000	0.41904	0.491000	0.48974	GGG	.		0.667	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
FASTKD3	79072	hgsc.bcm.edu	37	5	7867809	7867809	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:7867809C>T	ENST00000264669.5	-	2	524	c.388G>A	c.(388-390)Gca>Aca	p.A130T	MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	130					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A130T(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						GCTCCTGCTGCCATAGTGTCA	0.418																																					p.A130T		.											FASTKD3,bladder,carcinoma,0,1	FASTKD3	0	1	Substitution - Missense(1)	urinary_tract(1)	c.G388A						.						51.0	49.0	50.0					5																	7867809		2203	4300	6503	SO:0001583	missense	79072	exon2			CTGCTGCCATAGT	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.388G>A	5.37:g.7867809C>T	ENSP00000264669:p.Ala130Thr	Somatic	37	0		WXS	Illumina HiSeq	.	16	2	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138330	0.77775	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.26067	1.76;1.76;1.76	4.43	3.57	0.40892	.	0.369401	0.29438	N	0.012144	T	0.36663	0.0975	M	0.68593	2.085	0.58432	D	0.999999	D	0.61080	0.989	P	0.53146	0.719	T	0.13202	-1.0518	10	0.23302	T	0.38	-6.3781	12.4391	0.55615	0.0:0.9187:0.0:0.0813	.	130	Q14CZ7	FAKD3_HUMAN	T	130;130;113	ENSP00000264669:A130T;ENSP00000426008:A130T;ENSP00000422443:A113T	ENSP00000264669:A130T	A	-	1	0	FASTKD3	7920809	1.000000	0.71417	0.279000	0.24732	0.716000	0.41182	4.732000	0.62029	1.095000	0.41419	0.655000	0.94253	GCA	.		0.418	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
FAM71B	153745	hgsc.bcm.edu	37	5	156590510	156590510	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:156590510C>A	ENST00000302938.4	-	2	861	c.766G>T	c.(766-768)Ggg>Tgg	p.G256W		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	256	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGCAGCCCCTGGAGTGCTC	0.582																																					p.G256W		.											FAM71B,colon,carcinoma,0,1	FAM71B	0	0			c.G766T						.						89.0	77.0	81.0					5																	156590510		2203	4300	6503	SO:0001583	missense	153745	exon2			CAGCCCCTGGAGT		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.766G>T	5.37:g.156590510C>A	ENSP00000305596:p.Gly256Trp	Somatic	24	0		WXS	Illumina HiSeq	.	29	2	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058990	0.36373	.	.	ENSG00000170613	ENST00000302938	T	0.03982	3.74	3.8	-0.169	0.13339	.	0.834058	0.09777	N	0.757166	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.51791	0.948	B	0.39185	0.293	T	0.44421	-0.9329	10	0.51188	T	0.08	-3.6394	4.4637	0.11678	0.0:0.387:0.3864:0.2266	.	256	Q8TC56	FA71B_HUMAN	W	256	ENSP00000305596:G256W	ENSP00000305596:G256W	G	-	1	0	FAM71B	156523088	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.012000	0.12699	-0.056000	0.13221	0.543000	0.68304	GGG	.		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
PSTPIP2	9050	hgsc.bcm.edu	37	18	43578790	43578790	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:43578790C>T	ENST00000409746.5	-	8	603	c.532G>A	c.(532-534)Gca>Aca	p.A178T	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.A178T	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	178						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A178T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTGAAGTTGCCAGTTTCACA	0.478																																					p.A178T		.											PSTPIP2,NS,carcinoma,0,1	PSTPIP2	0	1	Substitution - Missense(1)	ovary(1)	c.G532A						.						103.0	103.0	103.0					18																	43578790		2203	4300	6503	SO:0001583	missense	9050	exon8			AAGTTGCCAGTTT		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.532G>A	18.37:g.43578790C>T	ENSP00000387261:p.Ala178Thr	Somatic	67	0		WXS	Illumina HiSeq	.	55	3	NM_024430		Missense_Mutation	SNP	ENST00000409746.5	37	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566606	0.86439	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.42900	0.96	5.36	5.36	0.76844	.	0.204155	0.43919	D	0.000508	T	0.58395	0.2119	M	0.79475	2.455	0.45261	D	0.99826	D;D	0.65815	0.981;0.995	P;P	0.55923	0.761;0.787	T	0.55842	-0.8077	10	0.15066	T	0.55	.	17.8464	0.88731	0.0:1.0:0.0:0.0	.	178;178	Q9H939-2;Q9H939	.;PPIP2_HUMAN	T	178	ENSP00000387261:A178T	ENSP00000353189:A178T	A	-	1	0	PSTPIP2	41832788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.326000	0.59241	2.500000	0.84329	0.555000	0.69702	GCA	.		0.478	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1		
MGAM	8972	hgsc.bcm.edu	37	7	141719015	141719015	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:141719015G>T	ENST00000549489.2	+	4	439	c.344G>T	c.(343-345)cGt>cTt	p.R115L	MGAM_ENST00000475668.2_Missense_Mutation_p.R115L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R115H(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGACCAACGTGGCTGTTGC	0.428																																					p.R115L		.											MGAM_ENST00000549489,colon,carcinoma,0,3	MGAM_ENST00000549489	0	3	Substitution - Missense(3)	large_intestine(3)	c.G344T						.						124.0	125.0	125.0					7																	141719015		1906	4128	6034	SO:0001583	missense	8972	exon4			ACCAACGTGGCTG	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.344G>T	7.37:g.141719015G>T	ENSP00000447378:p.Arg115Leu	Somatic	38	0		WXS	Illumina HiSeq	.	41	2	NM_004668	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615780	0.87359	.	.	ENSG00000257335	ENST00000465654;ENST00000549489;ENST00000497673;ENST00000475668	T;T;T	0.58940	0.3;0.3;0.3	4.85	4.85	0.62838	P-type trefoil, conserved site (1);Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.000000	0.48286	D	0.000198	T	0.72558	0.3475	M	0.71871	2.18	0.45791	D	0.998678	D	0.67145	0.996	P	0.61940	0.896	T	0.76011	-0.3115	10	0.87932	D	0	.	15.847	0.78901	0.0:0.0:1.0:0.0	.	115	O43451	MGA_HUMAN	L	115	ENSP00000419372:R115L;ENSP00000447378:R115L;ENSP00000417103:R115L	ENSP00000373973:R115L	R	+	2	0	MGAM	141365484	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.635000	0.91006	2.682000	0.91365	0.514000	0.50259	CGT	.		0.428	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
TPR	7175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	186312595	186312595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:186312595G>A	ENST00000367478.4	-	27	3909	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1205					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTTTTCTCGTCGTATAAAT	0.333			T	NTRK1	papillary thyroid																																p.R1205X		.		Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	.	0			c.C3613T						.						69.0	65.0	66.0					1																	186312595		1860	4096	5956	SO:0001587	stop_gained	7175	exon27			TTTCTCGTCGTAT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3613C>T	1.37:g.186312595G>A	ENSP00000356448:p.Arg1205*	Somatic	105	0		WXS	Illumina HiSeq	.	81	35	NM_003292	Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	44	10.551549	0.99426	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.07	-0.788	0.10939	.	0.219734	0.40144	N	0.001175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6392	0.76981	0.0:0.0:0.4097:0.5903	.	.	.	.	X	1205	.	ENSP00000356448:R1205X	R	-	1	2	TPR	184579218	0.991000	0.36638	0.994000	0.49952	0.799000	0.45148	1.968000	0.40500	-0.101000	0.12219	-0.314000	0.08810	CGA	.		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
CLSTN2	64084	hgsc.bcm.edu	37	3	140178551	140178551	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:140178551G>T	ENST00000458420.3	+	7	1352	c.1162G>T	c.(1162-1164)Ggc>Tgc	p.G388C	RP11-68L1.1_ENST00000483759.2_RNA|RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	388					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G388S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GATGAAACACGGCCCCAGCCC	0.572										HNSCC(16;0.037)																											p.G388C	GBM(45;858 913 3709 36904 37282)	.											CLSTN2,NS,carcinoma,0,1	CLSTN2	0	1	Substitution - Missense(1)	lung(1)	c.G1162T						.						85.0	73.0	77.0					3																	140178551		2203	4300	6503	SO:0001583	missense	64084	exon7			AAACACGGCCCCA	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1162G>T	3.37:g.140178551G>T	ENSP00000402460:p.Gly388Cys	Somatic	48	0		WXS	Illumina HiSeq	.	38	2	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778322	0.90195	.	.	ENSG00000158258	ENST00000458420	T	0.73789	-0.78	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87928	0.2708	10	0.87932	D	0	-18.1927	16.6974	0.85339	0.0:0.0:1.0:0.0	.	388	Q9H4D0	CSTN2_HUMAN	C	388	ENSP00000402460:G388C	ENSP00000402460:G388C	G	+	1	0	CLSTN2	141661241	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	2.552000	0.86080	0.655000	0.94253	GGC	.		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
COLGALT2	23127	hgsc.bcm.edu	37	1	183908097	183908097	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:183908097G>A	ENST00000361927.4	-	12	2050	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	COLGALT2_ENST00000367520.3_Missense_Mutation_p.T297M|COLGALT2_ENST00000367521.1_Missense_Mutation_p.T168M|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	560					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.T560M(1)									TGTGTAGTGCGTAGGGTAGAT	0.557																																					p.T560M		.											GLT25D2,colon,carcinoma,0,2	GLT25D2	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1679T						.						124.0	117.0	119.0					1																	183908097		2203	4300	6503	SO:0001583	missense	23127	exon12			TAGTGCGTAGGGT	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1679C>T	1.37:g.183908097G>A	ENSP00000354960:p.Thr560Met	Somatic	35	0		WXS	Illumina HiSeq	.	26	2	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704101	0.88924	.	.	ENSG00000198756	ENST00000361927;ENST00000367521;ENST00000367520	T	0.79940	-1.32	5.21	5.21	0.72293	.	0.049946	0.85682	D	0.000000	D	0.90707	0.7084	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92015	0.5621	10	0.87932	D	0	.	18.7471	0.91797	0.0:0.0:1.0:0.0	.	560;297	Q8IYK4;Q5SXQ3	GT252_HUMAN;.	M	560;168;297	ENSP00000354960:T560M	ENSP00000354960:T560M	T	-	2	0	GLT25D2	182174720	1.000000	0.71417	0.919000	0.36401	0.853000	0.48598	7.694000	0.84235	2.411000	0.81874	0.563000	0.77884	ACG	.		0.557	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
ALS2CR12	130540	hgsc.bcm.edu	37	2	202216087	202216087	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:202216087G>T	ENST00000286190.5	-	1	87	c.41C>A	c.(40-42)cCc>cAc	p.P14H	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.P14H|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.P14H|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.P14H			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	14					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						CAAGTTCCAGGGGTCCCAGCA	0.527																																					p.P14H		.											ALS2CR12,NS,carcinoma,0,1	ALS2CR12	0	0			c.C41A						.						92.0	89.0	90.0					2																	202216087		2203	4300	6503	SO:0001583	missense	130540	exon2			TTCCAGGGGTCCC	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.41C>A	2.37:g.202216087G>T	ENSP00000286190:p.Pro14His	Somatic	32	0		WXS	Illumina HiSeq	.	46	3	NM_001127391	G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253635	0.59212	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.67171	0.91;0.91;0.91;0.91;-0.25	5.06	4.17	0.49024	.	0.241551	0.29752	N	0.011298	T	0.77130	0.4085	M	0.62723	1.935	0.25882	N	0.983577	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.68754	-0.5325	10	0.59425	D	0.04	-5.1099	11.2233	0.48869	0.0:0.0:0.8182:0.1818	.	14;14	Q96Q35;G5E9S3	AL2SB_HUMAN;.	H	14	ENSP00000286190:P14H;ENSP00000385098:P14H;ENSP00000376086:P14H;ENSP00000412073:P14H;ENSP00000407585:P14H	ENSP00000286190:P14H	P	-	2	0	ALS2CR12	201924332	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	2.882000	0.48546	1.457000	0.47850	0.655000	0.94253	CCC	.		0.527	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163	
OSBP	5007	hgsc.bcm.edu;ucsc.edu	37	11	59362619	59362619	+	Intron	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:59362619C>A	ENST00000263847.1	-	8	1791				MIR3162_ENST00000581818.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein						lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTTCTACTCCCTAAAAAAGTC	0.373																																					.		.											.	.	.	0			.						.																																			SO:0001627	intron_variant	100422880	.			TACTCCCTAAAAA	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1312-891G>T	11.37:g.59362619C>A		Somatic	78	0		WXS	Illumina HiSeq	.	99	13	.	Q6P524	RNA	SNP	ENST00000263847.1	37	CCDS7974.1																																																																																			.		0.373	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1		
OGDH	4967	hgsc.bcm.edu	37	7	44737336	44737336	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:44737336G>A	ENST00000222673.5	+	17	2355	c.2313G>A	c.(2311-2313)cgG>cgA	p.R771R	OGDH_ENST00000449767.1_Silent_p.R767R|OGDH_ENST00000444676.1_Silent_p.R786R|OGDH_ENST00000439616.2_Silent_p.R621R|OGDH_ENST00000543843.1_Silent_p.R722R|OGDH_ENST00000447398.1_Silent_p.R782R	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	771					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AGTGGGTGCGGCAGAATGGCA	0.602																																					p.R771R		.											OGDH,colon,carcinoma,0,1	OGDH	0	0			c.G2313A						.						111.0	97.0	102.0					7																	44737336		2203	4300	6503	SO:0001819	synonymous_variant	4967	exon17			GGTGCGGCAGAAT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2313G>A	7.37:g.44737336G>A		Somatic	23	0		WXS	Illumina HiSeq	.	18	2	NM_002541	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																			.		0.602	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
DCP1B	196513	hgsc.bcm.edu	37	12	2062357	2062357	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:2062357A>T	ENST00000280665.6	-	7	828	c.749T>A	c.(748-750)cTc>cAc	p.L250H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.L124H|DCP1B_ENST00000397173.4_Missense_Mutation_p.L148H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	250					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ctgctgGTGGAGAGTCTGCGG	0.542																																					p.L250H		.											DCP1B,NS,haematopoietic_neoplasm,0,1	DCP1B	0	0			c.T749A						.						37.0	43.0	41.0					12																	2062357		2203	4300	6503	SO:0001583	missense	196513	exon7			TGGTGGAGAGTCT	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.749T>A	12.37:g.2062357A>T	ENSP00000280665:p.Leu250His	Somatic	38	2		WXS	Illumina HiSeq	.	44	4	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366372	0.24771	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.20332	2.1;2.09;2.08	4.46	0.638	0.17742	.	1.966910	0.01874	N	0.037412	T	0.28366	0.0701	L	0.47716	1.5	0.09310	N	1	D;D	0.60575	0.986;0.988	P;P	0.51487	0.671;0.533	T	0.11036	-1.0604	10	0.59425	D	0.04	0.3117	4.2956	0.10899	0.5008:0.2856:0.2136:0.0	.	148;250	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	250;148;124	ENSP00000280665:L250H;ENSP00000380358:L148H;ENSP00000444374:L124H	ENSP00000280665:L250H	L	-	2	0	DCP1B	1932618	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.063000	0.14410	0.254000	0.21573	0.528000	0.53228	CTC	.		0.542	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
GPHN	10243	hgsc.bcm.edu	37	14	67635650	67635650	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr14:67635650G>T	ENST00000315266.5	+	20	2998	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Splice_Site_p.G672V|GPHN_ENST00000478722.1_Splice_Site_p.G659V|GPHN_ENST00000305960.9_Splice_Site_p.G595V	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	626	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGACTTTCAGGGAATCCTGTA	0.428			T	MLL	AL																																p.G659V		.		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	GPHN_ENST00000478722,colon,carcinoma,0,1	GPHN_ENST00000478722	0	0			c.G1976T						.						97.0	94.0	95.0					14																	67635650		2203	4300	6503	SO:0001630	splice_region_variant	10243	exon21			TTTCAGGGAATCC	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1877-1G>T	14.37:g.67635650G>T		Somatic	28	0		WXS	Illumina HiSeq	.	30	3	NM_020806	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797611	0.90538	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	D;D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94;-3.94	5.32	5.32	0.75619	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.051439	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99090	4.425	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.994;0.997;0.992	D	0.99187	1.0869	9	.	.	.	.	18.781	0.91932	0.0:0.0:1.0:0.0	.	595;672;626;659	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	V	626;659;672;595;151	ENSP00000312771:G626V;ENSP00000417901:G659V;ENSP00000438404:G672V;ENSP00000303019:G595V;ENSP00000452009:G151V	.	G	+	2	0	GPHN	66705403	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.991000	0.93514	2.764000	0.94973	0.650000	0.86243	GGG	.		0.428	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	Missense_Mutation
GALNTL6	442117	hgsc.bcm.edu	37	4	173804049	173804049	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:173804049C>T	ENST00000506823.1	+	8	1689	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	GALNTL6_ENST00000508122.1_Silent_p.I327I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	344	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGTATGAAATCTCTTTTAAGG	0.423																																					p.I344I		.											GALNTL6,NS,carcinoma,0,1	GALNTL6	0	0			c.C1032T						.						122.0	126.0	125.0					4																	173804049		2203	4300	6503	SO:0001819	synonymous_variant	442117	exon8			TGAAATCTCTTTT		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1032C>T	4.37:g.173804049C>T		Somatic	66	0		WXS	Illumina HiSeq	.	38	2	NM_001034845	Q2L4S6	Silent	SNP	ENST00000506823.1	37	CCDS34104.1																																																																																			.		0.423	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52661362	52661362	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:52661362T>A	ENST00000296302.7	-	13	1469	c.1468A>T	c.(1468-1470)Aga>Tga	p.R490*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R490*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R490*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R490*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R458*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R490*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R490*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R490*			Q86U86	PB1_HUMAN	polybromo 1	490					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATATCGTCTCTCCTGGCAAGC	0.443			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.R490X		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	.	.	0			c.A1468T						.						126.0	112.0	117.0					3																	52661362		2203	4300	6503	SO:0001587	stop_gained	55193	exon14			CGTCTCTCCTGGC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1468A>T	3.37:g.52661362T>A	ENSP00000296302:p.Arg490*	Somatic	51	0		WXS	Illumina HiSeq	.	47	23	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	39	7.500951	0.98322	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.93	4.75	0.60458	.	0.047676	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-38.2216	13.1802	0.59649	0.0:0.0:0.1332:0.8668	.	.	.	.	X	458;490;490;490;490;490;490;490;490;434	.	ENSP00000296302:R490X	R	-	1	2	PBRM1	52636402	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.745000	0.68672	1.046000	0.40249	0.533000	0.62120	AGA	.		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
TRPT1	83707	hgsc.bcm.edu	37	11	63991664	63991664	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:63991664C>T	ENST00000317459.6	-	7	746	c.578G>A	c.(577-579)cGc>cAc	p.R193H	TRPT1_ENST00000541278.1_Intron|TRPT1_ENST00000546133.1_Intron|TRPT1_ENST00000394546.2_Missense_Mutation_p.R195H|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000546089.1_Intron|NUDT22_ENST00000441250.2_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394547.3_Missense_Mutation_p.R144H			Q86TN4	TRPT1_HUMAN	tRNA phosphotransferase 1	193					regulation of protein kinase activity (GO:0045859)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)		tRNA 2'-phosphotransferase activity (GO:0000215)	p.R193P(1)		lung(2)|skin(1)	3						ATTGGCAGAGCGGAAGAAGGG	0.567																																					p.R195H		.											TRPT1,NS,carcinoma,0,1	TRPT1	0	1	Substitution - Missense(1)	lung(1)	c.G584A						.						84.0	82.0	83.0					11																	63991664		2201	4297	6498	SO:0001583	missense	83707	exon7			GCAGAGCGGAAGA		CCDS31595.1, CCDS44639.1, CCDS53652.1, CCDS53653.1	11q13	2012-05-03			ENSG00000149743	ENSG00000149743			20316	protein-coding gene	gene with protein product	"""tRNA splicing 2' phosphotransferase 1"""	610470				14504659	Standard	NM_001160389		Approved	MGC11134	uc010rnc.2	Q86TN4	OTTHUMG00000167844	ENST00000317459.6:c.578G>A	11.37:g.63991664C>T	ENSP00000314073:p.Arg193His	Somatic	6	0		WXS	Illumina HiSeq	.	16	2	NM_001160389	A8MU17|A8MYC9|F5H2B2|Q9BSB9	Missense_Mutation	SNP	ENST00000317459.6	37	CCDS31595.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935664	0.52972	.	.	ENSG00000149743	ENST00000394547;ENST00000394546;ENST00000317459	T;T;T	0.46819	0.86;0.86;0.86	5.1	3.09	0.35607	.	0.324362	0.36002	N	0.002859	T	0.56702	0.2003	M	0.73962	2.25	0.80722	D	1	D;D;D	0.69078	0.997;0.985;0.983	P;P;P	0.58970	0.696;0.719;0.849	T	0.56220	-0.8015	10	0.15499	T	0.54	-1.7224	8.8332	0.35096	0.1489:0.77:0.0:0.0811	.	195;144;193	A8MU17;Q86TN4-2;Q86TN4	.;.;TRPT1_HUMAN	H	144;195;193	ENSP00000378051:R144H;ENSP00000378050:R195H;ENSP00000314073:R193H	ENSP00000314073:R193H	R	-	2	0	TRPT1	63748240	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.630000	0.54273	1.312000	0.45043	-0.266000	0.10368	CGC	.		0.567	TRPT1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396579.1	NM_031472	
PCDH10	57575	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	134071413	134071413	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:134071413G>C	ENST00000264360.5	+	1	944	c.118G>C	c.(118-120)Gat>Cat	p.D40H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	40	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TATCGCTGAAGATCTGGGTCT	0.532																																					p.D40H		.											.	.	.	0			c.G118C						.						127.0	122.0	124.0					4																	134071413		2203	4300	6503	SO:0001583	missense	57575	exon1			GCTGAAGATCTGG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.118G>C	4.37:g.134071413G>C	ENSP00000264360:p.Asp40His	Somatic	79	0		WXS	Illumina HiSeq	.	32	6	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764700	0.69878	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.62105	0.05	4.77	4.77	0.60923	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.46758	D	0.000263	D	0.82582	0.5068	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86438	0.1765	10	0.87932	D	0	.	17.5654	0.87918	0.0:0.0:1.0:0.0	.	40;40	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	40	ENSP00000264360:D40H	ENSP00000264360:D40H	D	+	1	0	PCDH10	134290863	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.462000	0.83206	0.555000	0.69702	GAT	.		0.532	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
FIBIN	387758	hgsc.bcm.edu	37	11	27016617	27016617	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:27016617G>T	ENST00000318627.2	+	1	990	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	182						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)		p.G182W(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CATCTCTGTGGGGCTCAGGGA	0.552																																					p.G182W		.											FIBIN,NS,carcinoma,0,1	FIBIN	0	1	Substitution - Missense(1)	endometrium(1)	c.G544T						.						66.0	72.0	70.0					11																	27016617		2202	4299	6501	SO:0001583	missense	387758	exon1			TCTGTGGGGCTCA	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.544G>T	11.37:g.27016617G>T	ENSP00000321962:p.Gly182Trp	Somatic	29	0		WXS	Illumina HiSeq	.	26	3	NM_203371		Missense_Mutation	SNP	ENST00000318627.2	37	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390251	0.82902	.	.	ENSG00000176971	ENST00000318627	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70726	-0.4793	9	0.87932	D	0	-8.2407	18.4119	0.90554	0.0:0.0:1.0:0.0	.	182	Q8TAL6	FIBIN_HUMAN	W	182	.	ENSP00000321962:G182W	G	+	1	0	FIBIN	26973193	1.000000	0.71417	0.913000	0.36048	0.946000	0.59487	9.366000	0.97143	2.705000	0.92388	0.650000	0.86243	GGG	.		0.552	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371	
ZNF493	284443	hgsc.bcm.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																					p.S417S		.											ZNF493_ENST00000392288,bladder,carcinoma,0,4	ZNF493_ENST00000392288	0	0			c.T1251C						.						34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443	exon4			GGAGTCTTCACAC	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C		Somatic	47	1		WXS	Illumina HiSeq	.	33	2	NM_001076678	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	CCDS12412.1																																																																																			.		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
RBM20	282996	hgsc.bcm.edu;bcgsc.ca	37	10	112579834	112579834	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:112579834G>T	ENST00000369519.3	+	10	2613	c.2555G>T	c.(2554-2556)gGa>gTa	p.G852V		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	852	Glu-rich.				heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						GATAAGGCTGGAAAAGAGGAA	0.458																																					p.G852V		.											.	.	.	0			c.G2555T						.						114.0	100.0	104.0					10																	112579834		692	1591	2283	SO:0001583	missense	282996	exon10			AGGCTGGAAAAGA	BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.2555G>T	10.37:g.112579834G>T	ENSP00000358532:p.Gly852Val	Somatic	48	0		WXS	Illumina HiSeq	.	52	4	NM_001134363	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	ENST00000369519.3	37	CCDS44477.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398721	0.42512	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	T	0.76060	-0.99	5.27	-1.36	0.09085	.	0.553700	0.17737	N	0.163708	T	0.60689	0.2288	L	0.50333	1.59	0.53688	D	0.999979	P	0.42785	0.79	B	0.38458	0.274	T	0.54899	-0.8224	10	0.59425	D	0.04	-6.1081	5.0407	0.14458	0.3089:0.2618:0.4293:0.0	.	852	Q5T481	RBM20_HUMAN	V	852	ENSP00000358532:G852V	ENSP00000358532:G852V	G	+	2	0	RBM20	112569824	0.482000	0.25948	0.875000	0.34327	0.982000	0.71751	0.159000	0.16442	-0.187000	0.10516	0.561000	0.74099	GGA	.		0.458	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050339.2	NM_001134363	
TMEM150A	129303	hgsc.bcm.edu	37	2	85826690	85826690	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:85826690G>T	ENST00000409668.1	-	6	999	c.532C>A	c.(532-534)Cga>Aga	p.R178R	TMEM150A_ENST00000306353.3_Silent_p.R125R|TMEM150A_ENST00000334462.5_Silent_p.R178R			Q86TG1	T150A_HUMAN	transmembrane protein 150A	178					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R178*(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGCACACTTCGCAGATAGGCC	0.607																																					p.R178R		.											TMEM150A,NS,carcinoma,0,1	TMEM150A	0	1	Substitution - Nonsense(1)	endometrium(1)	c.C532A						.						77.0	76.0	76.0					2																	85826690		2203	4300	6503	SO:0001819	synonymous_variant	129303	exon7			CACTTCGCAGATA	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.532C>A	2.37:g.85826690G>T		Somatic	30	0		WXS	Illumina HiSeq	.	35	2	NM_001031738	A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	37	CCDS33233.1																																																																																			.		0.607	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342	
Unknown	0	hgsc.bcm.edu;ucsc.edu	37	19	21565705	21565705	+	IGR	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:21565705G>A								ZNF738 (3601 upstream) : ZNF493 (14215 downstream)																							TTTGGCCACAGCCGGGCATAA	0.328																																					.		.											.	.	.	0			.						.																																			SO:0001628	intergenic_variant	148203	.			GCCACAGCCGGGC																													19.37:g.21565705G>A		Somatic	99	0		WXS	Illumina HiSeq	.	55	21	.		RNA	SNP		37																																																																																				.	0	0.328								
UGT1A9	54600	hgsc.bcm.edu	37	2	234581157	234581157	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:234581157A>C	ENST00000354728.4	+	1	659	c.577A>C	c.(577-579)Att>Ctt	p.I193L	UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.I193L|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	193					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGTCCCCAGAATTCTCTTAGG	0.468																																					p.I193L		.											UGT1A9,NS,carcinoma,0,2	UGT1A9	0	0			c.A577C						.						156.0	165.0	162.0					2																	234581157		2203	4297	6500	SO:0001583	missense	54600	exon1			CCCAGAATTCTCT	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.577A>C	2.37:g.234581157A>C	ENSP00000346768:p.Ile193Leu	Somatic	74	1		WXS	Illumina HiSeq	.	67	3	NM_021027	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771680	0.00645	.	.	ENSG00000241119	ENST00000354728	T	0.59224	0.28	3.41	-6.83	0.01693	.	.	.	.	.	T	0.22936	0.0554	N	0.02960	-0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13629	-1.0502	9	0.13470	T	0.59	.	5.5972	0.17333	0.4182:0.4051:0.0932:0.0834	.	193;193	Q5DSZ5;O60656	.;UD19_HUMAN	L	193	ENSP00000346768:I193L	ENSP00000346768:I193L	I	+	1	0	UGT1A9	234245896	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-10.910000	0.00005	-3.181000	0.00222	-0.690000	0.03725	ATT	.		0.468	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
NPM3	10360	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	103542240	103542240	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:103542240G>A	ENST00000370110.5	-	3	341	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	107					rRNA processing (GO:0006364)|rRNA transcription (GO:0009303)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CTCACCATGGGTTGGCAGGAC	0.577																																					p.P107S		.											.	.	.	0			c.C319T						.						137.0	121.0	126.0					10																	103542240		2203	4300	6503	SO:0001583	missense	10360	exon3			CCATGGGTTGGCA	AY049737	CCDS7519.1	10q24.31	2009-08-27	2009-08-27		ENSG00000107833	ENSG00000107833			7931	protein-coding gene	gene with protein product		606456				11722795	Standard	NM_006993		Approved		uc001ktt.3	O75607	OTTHUMG00000018942	ENST00000370110.5:c.319C>T	10.37:g.103542240G>A	ENSP00000359128:p.Pro107Ser	Somatic	22	0		WXS	Illumina HiSeq	.	12	7	NM_006993	Q9UNY6	Missense_Mutation	SNP	ENST00000370110.5	37	CCDS7519.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220163	0.95139	.	.	ENSG00000107833	ENST00000370110	T	0.52754	0.65	5.45	5.45	0.79879	Nucleoplasmin core (2);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	T	0.66689	-0.5860	10	0.62326	D	0.03	-27.2961	17.4687	0.87639	0.0:0.0:1.0:0.0	.	107	O75607	NPM3_HUMAN	S	107	ENSP00000359128:P107S	ENSP00000359128:P107S	P	-	1	0	NPM3	103532230	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	8.433000	0.90291	2.556000	0.86216	0.650000	0.86243	CCC	.		0.577	NPM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050003.2	NM_006993	
WBSCR22	114049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	73098119	73098119	+	Missense_Mutation	SNP	G	G	C	rs148529785		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:73098119G>C	ENST00000265758.2	+	2	129	c.71G>C	c.(70-72)cGg>cCg	p.R24P	WBSCR22_ENST00000423497.1_Missense_Mutation_p.R24P|DNAJC30_ENST00000395176.2_5'Flank|WBSCR22_ENST00000423166.2_Missense_Mutation_p.G15R|WBSCR22_ENST00000464615.1_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	24					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACAGAAGCCCGGAAATACGTT	0.592																																					p.R24P		.											.	.	.	0			c.G71C						.						72.0	83.0	79.0					7																	73098119		2203	4300	6503	SO:0001583	missense	114049	exon2			AAGCCCGGAAATA	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.71G>C	7.37:g.73098119G>C	ENSP00000265758:p.Arg24Pro	Somatic	86	0		WXS	Illumina HiSeq	.	85	24	NM_001202560	A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.994441|3.994441	0.74703|0.74703	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000423166|ENST00000265758;ENST00000423497	.|T;T	.|0.68025	.|-0.3;-0.3	5.3|5.3	2.52|2.52	0.30459|0.30459	.|.	.|0.185131	.|0.44902	.|D	.|0.000407	T|T	0.76723|0.76723	0.4027|0.4027	M|M	0.86028|0.86028	2.79|2.79	0.26101|0.26101	N|N	0.980828|0.980828	.|D;D	.|0.64830	.|0.994;0.966	.|P;P	.|0.58454	.|0.839;0.749	T|T	0.68265|0.68265	-0.5454|-0.5454	6|10	0.87932|0.66056	D|D	0|0.02	-0.1329|-0.1329	7.0123|7.0123	0.24869|0.24869	0.2784:0.0:0.7216:0.0|0.2784:0.0:0.7216:0.0	.|.	.|24;24	.|C9K060;O43709	.|.;WBS22_HUMAN	R|P	15|24	.|ENSP00000265758:R24P;ENSP00000401191:R24P	ENSP00000397056:G15R|ENSP00000265758:R24P	G|R	+|+	1|2	0|0	WBSCR22|WBSCR22	72736055|72736055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	1.748000|1.748000	0.38308|0.38308	0.377000|0.377000	0.24735|0.24735	0.563000|0.563000	0.77884|0.77884	GGA|CGG	.		0.592	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1		
ADAM30	11085	hgsc.bcm.edu;broad.mit.edu	37	1	120438863	120438863	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:120438863G>T	ENST00000369400.1	-	1	255	c.97C>A	c.(97-99)Cac>Aac	p.H33N		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	33					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTCAGGGTGAAAAATTACA	0.512																																					p.H33N		.											ADAM30,NS,carcinoma,0,1	ADAM30	0	0			c.C97A						.						58.0	58.0	58.0					1																	120438863		2203	4300	6503	SO:0001583	missense	11085	exon1			CAGGGTGAAAAAT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.97C>A	1.37:g.120438863G>T	ENSP00000358407:p.His33Asn	Somatic	35	0		WXS	Illumina HiSeq	.	21	4	NM_021794	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	0.189	-1.055139	0.01965	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01126	5.3	4.6	2.5	0.30297	.	0.571105	0.14533	N	0.313714	T	0.00328	0.0010	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.40021	-0.9585	10	0.16896	T	0.51	.	7.0697	0.25171	0.0:0.266:0.5609:0.173	.	33	Q9UKF2	ADA30_HUMAN	N	33	ENSP00000358407:H33N	ENSP00000358407:H33N	H	-	1	0	ADAM30	120240386	0.076000	0.21285	0.146000	0.22360	0.061000	0.15899	2.711000	0.47177	1.041000	0.40125	0.455000	0.32223	CAC	.		0.512	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794	
EHD3	30845	hgsc.bcm.edu	37	2	31457587	31457587	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:31457587C>T	ENST00000322054.5	+	1	385	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	EHD3_ENST00000541626.1_Silent_p.L34L	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	34					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCAAGCTGCTGCCCTTGGA	0.597																																					p.L34L		.											EHD3,NS,carcinoma,0,1	EHD3	0	0			c.C100T						.						102.0	98.0	99.0					2																	31457587		2203	4300	6503	SO:0001819	synonymous_variant	30845	exon1			AAGCTGCTGCCCT	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.100C>T	2.37:g.31457587C>T		Somatic	76	0		WXS	Illumina HiSeq	.	75	3	NM_014600	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	CCDS1774.1																																																																																			.		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
RIMS2	9699	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	104897649	104897649	+	Silent	SNP	T	T	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:104897649T>G	ENST00000436393.2	+	2	397	c.156T>G	c.(154-156)gcT>gcG	p.A52A	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Silent_p.A274A|RIMS2_ENST00000507740.1_Silent_p.A82A|RIMS2_ENST00000262231.10_Silent_p.A82A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	305	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGATTATGCTGATAGGCGAT	0.398										HNSCC(12;0.0054)																											p.A274A		.											.	.	.	0			c.T822G						.						106.0	97.0	100.0					8																	104897649		1890	4117	6007	SO:0001819	synonymous_variant	9699	exon4			TTATGCTGATAGG	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.156T>G	8.37:g.104897649T>G		Somatic	40	0		WXS	Illumina HiSeq	.	30	8	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																				.		0.398	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
OR5AN1	390195	hgsc.bcm.edu	37	11	59132147	59132147	+	Silent	SNP	C	C	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:59132147C>G	ENST00000313940.2	+	1	263	c.216C>G	c.(214-216)gtC>gtG	p.V72V		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TCATAGATGTCTGCTATATCA	0.423																																					p.V72V		.											OR5AN1,NS,carcinoma,0,1	OR5AN1	0	0			c.C216G						.						186.0	177.0	180.0					11																	59132147		2201	4295	6496	SO:0001819	synonymous_variant	390195	exon1			AGATGTCTGCTAT	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.216C>G	11.37:g.59132147C>G		Somatic	34	0		WXS	Illumina HiSeq	.	35	2	NM_001004729	B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	CCDS31559.1																																																																																			.		0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	
MT-ND4L	4539	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	M	10725	10725	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrM:10725G>A	ENST00000361335.1	+	1	256	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	86					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						CCAACACATATGGCCTAGACT	0.443																																					p.G86S		.											.	.	.	0			c.G256A						.																																			SO:0001583	missense	0	exon1			ACATATGGCCTAG			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.256G>A	M.37:g.10725G>A	ENSP00000354728:p.Gly86Ser	Somatic	14	0		WXS	Illumina HiSeq	.	13	11	ENST00000361335		Missense_Mutation	SNP	ENST00000361335.1	37																																																																																				.		0.443	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024034	
TRIM33	51592	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	114952824	114952824	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:114952824G>T	ENST00000358465.2	-	12	2259	c.2176C>A	c.(2176-2178)Ctt>Att	p.L726I	TRIM33_ENST00000369543.2_Missense_Mutation_p.L726I|TRIM33_ENST00000450349.2_Missense_Mutation_p.L358I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	726					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCGGAGAAAGGGCAGAGGGA	0.423			T	RET	papillary thyroid																																p.L726I		.		Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	.	.	.	0			c.C2176A						.						124.0	124.0	124.0					1																	114952824		2203	4300	6503	SO:0001583	missense	51592	exon12			GAGAAAGGGCAGA	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2176C>A	1.37:g.114952824G>T	ENSP00000351250:p.Leu726Ile	Somatic	66	0		WXS	Illumina HiSeq	.	49	4	NM_033020	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773758	0.31411	.	.	ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349	T;T;T	0.75154	-0.82;-0.72;-0.91	4.82	2.46	0.29980	.	0.373016	0.27618	N	0.018577	T	0.27384	0.0672	N	0.14661	0.345	0.30302	N	0.789348	B;B;B;B	0.31680	0.335;0.335;0.253;0.164	B;B;B;B	0.25140	0.058;0.039;0.04;0.018	T	0.07770	-1.0755	10	0.22109	T	0.4	-8.3692	4.7916	0.13252	0.2109:0.0:0.6303:0.1588	.	358;358;726;726	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9	.;.;.;TRI33_HUMAN	I	726;726;358	ENSP00000351250:L726I;ENSP00000358556:L726I;ENSP00000412077:L358I	ENSP00000351250:L726I	L	-	1	0	TRIM33	114754347	1.000000	0.71417	0.975000	0.42487	0.962000	0.63368	4.611000	0.61162	0.319000	0.23209	0.460000	0.39030	CTT	.		0.423	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
GSDMA	284110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38128427	38128427	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:38128427G>A	ENST00000301659.4	+	6	819	c.701G>A	c.(700-702)gGa>gAa	p.G234E		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	234					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TTCCCTCCTGGAGGTAAGTGA	0.502																																					p.G234E		.											.	.	.	0			c.G701A						.						44.0	42.0	43.0					17																	38128427		1839	4081	5920	SO:0001583	missense	284110	exon6			CTCCTGGAGGTAA	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.701G>A	17.37:g.38128427G>A	ENSP00000301659:p.Gly234Glu	Somatic	43	0		WXS	Illumina HiSeq	.	40	8	NM_178171	Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	G	4.600	0.111423	0.08831	.	.	ENSG00000167914	ENST00000301659	T	0.21031	2.03	5.87	1.31	0.21738	.	0.577092	0.15791	N	0.244422	T	0.06416	0.0165	N	0.03948	-0.315	0.33511	D	0.591197	B	0.02656	0.0	B	0.04013	0.001	T	0.41342	-0.9514	10	0.02654	T	1	-2.373	6.272	0.20959	0.4524:0.0:0.5476:0.0	.	234	Q96QA5	GSDMA_HUMAN	E	234	ENSP00000301659:G234E	ENSP00000301659:G234E	G	+	2	0	GSDMA	35381953	0.984000	0.35163	0.879000	0.34478	0.935000	0.57460	0.579000	0.23788	0.417000	0.25871	0.655000	0.94253	GGA	.		0.502	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171	
XPOT	11260	hgsc.bcm.edu	37	12	64824051	64824051	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:64824051G>T	ENST00000332707.5	+	17	2489	c.1960G>T	c.(1960-1962)Gct>Tct	p.A654S		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	654	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.A654T(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TCTTAACCATGCTGTTGGATT	0.398																																					p.A654S		.											XPOT,NS,carcinoma,0,1	XPOT	0	1	Substitution - Missense(1)	ovary(1)	c.G1960T						.						63.0	59.0	60.0					12																	64824051		2203	4300	6503	SO:0001583	missense	11260	exon17			AACCATGCTGTTG	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1960G>T	12.37:g.64824051G>T	ENSP00000327821:p.Ala654Ser	Somatic	59	0		WXS	Illumina HiSeq	.	47	2	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534292	0.64972	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.67523	-0.27;-0.27	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.47716	1.5	0.80722	D	1	B	0.30193	0.272	B	0.20767	0.031	T	0.56208	-0.8017	9	.	.	.	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	654	O43592	XPOT_HUMAN	S	654;176	ENSP00000327821:A654S;ENSP00000444345:A176S	.	A	+	1	0	XPOT	63110318	1.000000	0.71417	0.996000	0.52242	0.043000	0.13939	9.331000	0.96430	2.752000	0.94435	0.650000	0.86243	GCT	.		0.398	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
FYTTD1	84248	hgsc.bcm.edu	37	3	197500335	197500335	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:197500335C>T	ENST00000241502.4	+	5	781	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	FYTTD1_ENST00000424384.2_Missense_Mutation_p.R120C|FYTTD1_ENST00000428395.2_Missense_Mutation_p.R96C|FYTTD1_ENST00000415708.2_Missense_Mutation_p.R161C	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	187					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GAAAGATACTCGTCAGGCAAC	0.358																																					p.R187C		.											FYTTD1,NS,carcinoma,0,1	FYTTD1	0	0			c.C559T						.						48.0	48.0	48.0					3																	197500335		2203	4298	6501	SO:0001583	missense	84248	exon5			GATACTCGTCAGG	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.559C>T	3.37:g.197500335C>T	ENSP00000241502:p.Arg187Cys	Somatic	97	1		WXS	Illumina HiSeq	.	76	4	NM_032288	A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451649	0.84209	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.06	5.06	0.68205	.	0.099859	0.64402	D	0.000002	T	0.68769	0.3037	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.83275	0.996;0.739	T	0.70487	-0.4858	10	0.87932	D	0	-6.5174	16.7901	0.85586	0.0:1.0:0.0:0.0	.	161;187	Q96QD9-2;Q96QD9	.;UIF_HUMAN	C	120;161;96;187;120	ENSP00000399896:R120C;ENSP00000393746:R161C;ENSP00000391157:R96C;ENSP00000241502:R187C;ENSP00000394631:R120C	ENSP00000241502:R187C	R	+	1	0	FYTTD1	198984732	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.986000	0.49370	2.806000	0.96561	0.644000	0.83932	CGT	.		0.358	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288	
ANO6	196527	hgsc.bcm.edu	37	12	45803228	45803228	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:45803228C>T	ENST00000320560.8	+	16	2171	c.1969C>T	c.(1969-1971)Cct>Tct	p.P657S	ANO6_ENST00000425752.2_Missense_Mutation_p.P657S|ANO6_ENST00000441606.2_Missense_Mutation_p.P639S|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.P657S|ANO6_ENST00000423947.3_Missense_Mutation_p.P678S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	657					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCATCTGCAGCCTATGGGCAA	0.378																																					p.P678S		.											.	.	.	0			c.C2032T						.						122.0	122.0	122.0					12																	45803228		2203	4300	6503	SO:0001583	missense	196527	exon17			CTGCAGCCTATGG	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1969C>T	12.37:g.45803228C>T	ENSP00000320087:p.Pro657Ser	Somatic	108	0		WXS	Illumina HiSeq	.	80	4	NM_001204803	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418743	0.25552	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.23	4.32	0.51571	.	0.293170	0.38436	N	0.001689	T	0.52996	0.1769	L	0.57536	1.79	0.46542	D	0.999094	B;B;B;B	0.26635	0.001;0.006;0.155;0.141	B;B;B;B	0.26310	0.004;0.023;0.064;0.068	T	0.51764	-0.8664	10	0.34782	T	0.22	.	5.675	0.17743	0.1383:0.6332:0.1529:0.0755	.	639;678;657;657	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	657;678;657;657;639	ENSP00000391417:P657S;ENSP00000409126:P678S;ENSP00000413840:P657S;ENSP00000320087:P657S;ENSP00000413137:P639S	ENSP00000320087:P657S	P	+	1	0	ANO6	44089495	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.942000	0.40243	1.494000	0.48533	0.655000	0.94253	CCT	.		0.378	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
TUBA3C	7278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	19751499	19751499	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:19751499G>T	ENST00000400113.3	-	4	728	c.624C>A	c.(622-624)gcC>gcA	p.A208A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	208					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGTCATAGATGGCTTCATTGT	0.582																																					p.A208A		.											.	.	.	0			c.C624A						.						173.0	154.0	160.0					13																	19751499		2203	4300	6503	SO:0001819	synonymous_variant	7278	exon4			ATAGATGGCTTCA	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.624C>A	13.37:g.19751499G>T		Somatic	58	0		WXS	Illumina HiSeq	.	45	8	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	CCDS9284.1																																																																																			.		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
PRDM4	11108	hgsc.bcm.edu	37	12	108145794	108145794	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:108145794G>T	ENST00000228437.5	-	5	983	c.524C>A	c.(523-525)gCc>gAc	p.A175D	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	175					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AAGACTTTGGGCACCATGTGT	0.468																																					p.A175D		.											PRDM4,NS,carcinoma,0,1	PRDM4	0	0			c.C524A						.						149.0	132.0	138.0					12																	108145794		2203	4300	6503	SO:0001583	missense	11108	exon5			CTTTGGGCACCAT	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.524C>A	12.37:g.108145794G>T	ENSP00000228437:p.Ala175Asp	Somatic	56	0		WXS	Illumina HiSeq	.	50	2	NM_012406	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407553	0.62399	.	.	ENSG00000110851	ENST00000228437	D	0.82893	-1.66	5.66	5.66	0.87406	.	0.569957	0.18565	N	0.137520	T	0.73753	0.3627	N	0.14661	0.345	0.43959	D	0.996632	B	0.23058	0.079	B	0.18871	0.023	T	0.70392	-0.4884	10	0.72032	D	0.01	-3.9551	17.9364	0.89013	0.0:0.0:1.0:0.0	.	175	Q9UKN5	PRDM4_HUMAN	D	175	ENSP00000228437:A175D	ENSP00000228437:A175D	A	-	2	0	PRDM4	106669924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.780000	0.75063	2.656000	0.90262	0.655000	0.94253	GCC	.		0.468	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406	
CCDC138	165055	hgsc.bcm.edu	37	2	109405307	109405307	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:109405307G>T	ENST00000295124.4	+	3	211		c.e3-1		CCDC138_ENST00000470608.1_Splice_Site|CCDC138_ENST00000412964.2_Splice_Site	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138									p.?(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTCGTTGACAGGTGATTTGGA	0.338																																					.		.											CCDC138,NS,carcinoma,0,1	CCDC138	0	1	Unknown(1)	endometrium(1)	c.152-1G>T						.						148.0	138.0	142.0					2																	109405307		2203	4300	6503	SO:0001630	splice_region_variant	165055	exon3			TTGACAGGTGATT	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.152-1G>T	2.37:g.109405307G>T		Somatic	50	0		WXS	Illumina HiSeq	.	27	2	NM_144978	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Splice_Site	SNP	ENST00000295124.4	37	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	G	8.753	0.921831	0.17982	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	.	.	.	4.04	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9993	0.53222	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC138	108771739	1.000000	0.71417	0.749000	0.31150	0.143000	0.21401	4.191000	0.58372	2.540000	0.85666	0.655000	0.94253	.	.		0.338	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978	Intron
IQGAP1	8826	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	15	90972899	90972899	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:90972899G>T	ENST00000268182.5	+	4	514		c.e4+1		IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						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)			ATTGCCTAAGGTAACTTACCT	0.383																																					.		.											.	.	.	0			c.390+1G>T						.						155.0	142.0	147.0					15																	90972899		2198	4298	6496	SO:0001630	splice_region_variant	8826	exon4			CCTAAGGTAACTT	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.390+1G>T	15.37:g.90972899G>T		Somatic	34	0		WXS	Illumina HiSeq	.	41	4	NM_003870	A7MBM3	Splice_Site	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618092	0.87359	.	.	ENSG00000140575	ENST00000268182	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP1	88773903	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.563000	0.98148	2.776000	0.95493	0.650000	0.86243	.	.		0.383	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	Intron
WIPF2	147179	hgsc.bcm.edu	37	17	38421061	38421061	+	Silent	SNP	G	G	A	rs534941527		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:38421061G>A	ENST00000323571.4	+	5	873	c.633G>A	c.(631-633)ccG>ccA	p.P211P	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Silent_p.P211P|WIPF2_ENST00000583130.1_Silent_p.P211P	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	211					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCTTGCCACCGACGCCTGGAC	0.627										HNSCC(43;0.11)																											p.P211P		.											.	.	.	0			c.G633A						.						111.0	101.0	105.0					17																	38421061		2203	4300	6503	SO:0001819	synonymous_variant	147179	exon5			GCCACCGACGCCT	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.633G>A	17.37:g.38421061G>A		Somatic	60	0		WXS	Illumina HiSeq	.	45	4	NM_133264	A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	ENST00000323571.4	37	CCDS11364.1																																																																																			.		0.627	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264	
POMGNT1	55624	hgsc.bcm.edu	37	1	46662489	46662489	+	Missense_Mutation	SNP	G	G	T	rs144959783		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:46662489G>T	ENST00000371984.3	-	4	425	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	POMGNT1_ENST00000371986.3_Missense_Mutation_p.R90S|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R90S|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R68S|POMGNT1_ENST00000396420.3_Missense_Mutation_p.R90S	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	90					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTGCCTCTGCGCCGTGGGGGC	0.622																																					p.R90S		.											POMGNT1_ENST00000371992,caecum,carcinoma,0,2	POMGNT1_ENST00000371992	0	0			c.C268A						.						73.0	77.0	76.0					1																	46662489		2203	4300	6503	SO:0001583	missense	55624	exon4			CTCTGCGCCGTGG		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.268C>A	1.37:g.46662489G>T	ENSP00000361052:p.Arg90Ser	Somatic	20	0		WXS	Illumina HiSeq	.	19	3	NM_017739	D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	CCDS531.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072798	0.55646	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;1.51;-1.0	4.83	4.83	0.62350	.	0.230391	0.43416	D	0.000562	T	0.70211	0.3198	L	0.57536	1.79	0.46678	D	0.999153	B;P;B;B	0.37573	0.082;0.6;0.004;0.054	B;B;B;B	0.34991	0.041;0.193;0.007;0.011	T	0.69363	-0.5165	10	0.22706	T	0.39	-8.0675	17.9155	0.88948	0.0:0.0:1.0:0.0	.	68;90;90;90	F5H827;Q68CV6;Q5VST3;Q8WZA1	.;.;.;PMGT1_HUMAN	S	90;90;90;68;90	ENSP00000379698:R90S;ENSP00000361052:R90S;ENSP00000361060:R90S;ENSP00000443767:R68S;ENSP00000361054:R90S	ENSP00000361052:R90S	R	-	1	0	POMGNT1	46435076	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	5.346000	0.65992	2.203000	0.70933	0.462000	0.41574	CGC	.		0.622	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739	
SORCS3	22986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	106959842	106959842	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:106959842G>A	ENST00000369701.3	+	15	2322	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	699					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGCACCAAGGAGGACTATCA	0.532																																					p.E699K	NSCLC(116;1497 1690 7108 13108 14106)	.											.	.	.	0			c.G2095A						.						124.0	113.0	117.0					10																	106959842		2203	4300	6503	SO:0001583	missense	22986	exon15			ACCAAGGAGGACT	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2095G>A	10.37:g.106959842G>A	ENSP00000358715:p.Glu699Lys	Somatic	54	0		WXS	Illumina HiSeq	.	39	11	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869481	0.72065	.	.	ENSG00000156395	ENST00000369701	T	0.29397	1.57	6.07	6.07	0.98685	VPS10 (1);	0.179150	0.49916	D	0.000124	T	0.22126	0.0533	L	0.28274	0.84	0.40529	D	0.980913	B	0.33549	0.417	B	0.32149	0.141	T	0.05852	-1.0860	9	.	.	.	.	13.793	0.63152	0.0696:0.0:0.9304:0.0	.	699	Q9UPU3	SORC3_HUMAN	K	699	ENSP00000358715:E699K	.	E	+	1	0	SORCS3	106949832	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.261000	0.72509	2.890000	0.99128	0.650000	0.86243	GAG	.		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
ZNF609	23060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	64968457	64968457	+	Splice_Site	SNP	T	T	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:64968457T>G	ENST00000326648.3	+	4	3530		c.e4+2			NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609							nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACCGACAGGTAACTGTTGCC	0.507																																					.		.											.	.	.	0			c.3402+2T>G						.						49.0	54.0	52.0					15																	64968457		2116	4232	6348	SO:0001630	splice_region_variant	23060	exon4			GACAGGTAACTGT	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3402+2T>G	15.37:g.64968457T>G		Somatic	44	0		WXS	Illumina HiSeq	.	36	12	NM_015042	Q0D2I2	Splice_Site	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.706261	0.89018	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4104	0.74914	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF609	62755510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.662000	0.83803	2.038000	0.60285	0.533000	0.62120	.	.		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	Intron
TAP1	6890	hgsc.bcm.edu	37	6	32815404	32815404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:32815404C>A	ENST00000354258.4	-	9	2130	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	PSMB8_ENST00000374881.2_5'Flank|TAP1_ENST00000425148.2_Nonsense_Mutation_p.E396*|PSMB9_ENST00000395330.1_Intron|TAPSAR1_ENST00000453426.1_lincRNA	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	657	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.E657*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCAATATTTTCTTGAAGACTT	0.473																																					p.E657X		.											TAP1,rectum,carcinoma,0,1	TAP1	0	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1969T						.						103.0	99.0	100.0					6																	32815404		2203	4300	6503	SO:0001587	stop_gained	6890	exon9			TATTTTCTTGAAG		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1969G>T	6.37:g.32815404C>A	ENSP00000346206:p.Glu657*	Somatic	21	0		WXS	Illumina HiSeq	.	17	2	NM_000593	Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	42	9.367215	0.99150	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.315	15.3873	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	X	657;396	.	ENSP00000346206:E657X	E	-	1	0	TAP1	32923382	0.995000	0.38212	0.964000	0.40570	0.973000	0.67179	3.384000	0.52478	2.706000	0.92434	0.643000	0.83706	GAA	.		0.473	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
SLCO5A1	81796	hgsc.bcm.edu	37	8	70744391	70744391	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:70744391C>T	ENST00000260126.4	-	2	1224	c.518G>A	c.(517-519)tGc>tAc	p.C173Y	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C173Y|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C173Y|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATGTCAAAGCAGCTGACCAG	0.612																																					p.C173Y		.											SLCO5A1,middle_lobe,carcinoma,0,1	SLCO5A1	0	0			c.G518A						.						51.0	57.0	55.0					8																	70744391		2203	4300	6503	SO:0001583	missense	81796	exon2			TCAAAGCAGCTGA	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.518G>A	8.37:g.70744391C>T	ENSP00000260126:p.Cys173Tyr	Somatic	63	0		WXS	Illumina HiSeq	.	41	2	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634910	0.87760	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58652	0.32;0.32;0.32	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72993	0.3530	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	D;D;D;D	0.80764	0.981;0.994;0.982;0.953	T	0.65294	-0.6203	10	0.15066	T	0.55	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	173;173;173;173	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Y	173	ENSP00000260126:C173Y;ENSP00000434422:C173Y;ENSP00000431611:C173Y	ENSP00000260126:C173Y	C	-	2	0	SLCO5A1	70906945	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.814000	0.86154	2.704000	0.92352	0.561000	0.74099	TGC	.		0.612	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
SEC63	11231	hgsc.bcm.edu	37	6	108214751	108214751	+	Missense_Mutation	SNP	T	T	C	rs79262844		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:108214751T>C	ENST00000369002.4	-	16	1788	c.1609A>G	c.(1609-1611)Aca>Gca	p.T537A		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	537	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.T537A(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		AGCACAGGTGTAGGTTTTTTT	0.338																																					p.T537A		.											SEC63,NS,carcinoma,0,2	SEC63	0	1	Substitution - Missense(1)	prostate(1)	c.A1609G						.						124.0	127.0	126.0					6																	108214751		2202	4300	6502	SO:0001583	missense	11231	exon16			CAGGTGTAGGTTT	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1609A>G	6.37:g.108214751T>C	ENSP00000357998:p.Thr537Ala	Somatic	83	0		WXS	Illumina HiSeq	.	47	3	NM_007214	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.703|5.703	0.314291|0.314291	0.10789|0.10789	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000369002;ENST00000437345|ENST00000423697	T|.	0.62498|.	0.02|.	5.38|5.38	-1.5|-1.5	0.08691|0.08691	Sec63 domain (2);|.	0.376195|.	0.32655|.	N|.	0.005818|.	T|T	0.08714|0.08714	0.0216|0.0216	N|N	0.03608|0.03608	-0.345|-0.345	0.30697|0.30697	N|N	0.750709|0.750709	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|6	0.10636|0.39692	T|T	0.68|0.17	-1.11|-1.11	10.8087|10.8087	0.46533|0.46533	0.0:0.531:0.0:0.469|0.0:0.531:0.0:0.469	.|.	537;537|.	Q9UGP8;B3KQF0|.	SEC63_HUMAN;.|.	A|C	537;188|396	ENSP00000357998:T537A|.	ENSP00000357998:T537A|ENSP00000394572:Y396C	T|Y	-|-	1|2	0|0	SEC63|SEC63	108321444|108321444	0.992000|0.992000	0.36948|0.36948	0.994000|0.994000	0.49952|0.49952	0.841000|0.841000	0.47740|0.47740	0.346000|0.346000	0.19997|0.19997	-0.097000|-0.097000	0.12307|0.12307	-0.371000|-0.371000	0.07208|0.07208	ACA|TAC	.		0.338	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
MPHOSPH8	54737	hgsc.bcm.edu	37	13	20233249	20233249	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:20233249C>T	ENST00000361479.5	+	6	1759	c.1691C>T	c.(1690-1692)gCa>gTa	p.A564V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A564V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	564					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAACAGATGCAATTCCAAGT	0.338																																					p.A564V		.											MPHOSPH8,NS,carcinoma,0,1	MPHOSPH8	0	0			c.C1691T						.						114.0	113.0	113.0					13																	20233249		2203	4300	6503	SO:0001583	missense	54737	exon6			CAGATGCAATTCC	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1691C>T	13.37:g.20233249C>T	ENSP00000355388:p.Ala564Val	Somatic	92	0		WXS	Illumina HiSeq	.	47	2	NM_017520	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526291	0.27299	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.70631	-0.5;-0.5	5.61	-0.489	0.12052	Ankyrin repeat-containing domain (2);	0.880184	0.10296	N	0.691737	T	0.53094	0.1775	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.30937	-0.9961	10	0.30078	T	0.28	.	7.6964	0.28598	0.0:0.4778:0.3342:0.1879	.	564;564	Q99549;Q99549-2	MPP8_HUMAN;.	V	564	ENSP00000414663:A564V;ENSP00000355388:A564V	ENSP00000355388:A564V	A	+	2	0	MPHOSPH8	19131249	0.654000	0.27367	0.000000	0.03702	0.954000	0.61252	2.088000	0.41663	-0.481000	0.06792	-0.264000	0.10439	GCA	.		0.338	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
NLRP3	114548	hgsc.bcm.edu	37	1	247588563	247588563	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:247588563G>T	ENST00000336119.3	+	3	2564	c.1818G>T	c.(1816-1818)ctG>ctT	p.L606L	NLRP3_ENST00000348069.2_Silent_p.L606L|NLRP3_ENST00000366496.2_Silent_p.L606L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Silent_p.L606L|NLRP3_ENST00000391828.3_Silent_p.L606L|NLRP3_ENST00000391827.2_Silent_p.L606L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	606					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L606L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAATCAGGCTGGAGCTGCTGA	0.458																																					p.L606L		.											NLRP3,NS,carcinoma,0,1	NLRP3	0	1	Substitution - coding silent(1)	lung(1)	c.G1818T						.						52.0	53.0	52.0					1																	247588563		2203	4300	6503	SO:0001819	synonymous_variant	114548	exon3			CAGGCTGGAGCTG	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1818G>T	1.37:g.247588563G>T		Somatic	35	0		WXS	Illumina HiSeq	.	27	2	NM_183395	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	CCDS1632.1																																																																																			.		0.458	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
FSIP2	401024	hgsc.bcm.edu;bcgsc.ca	37	2	186666462	186666462	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:186666462A>T	ENST00000424728.1	+	17	12429	c.12429A>T	c.(12427-12429)ttA>ttT	p.L4143F	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.L4232F			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4143										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTCATTTTTAGAAGATGTCA	0.313																																					p.L4232F		.											.	.	.	0			c.A12696T						.																																			SO:0001583	missense	401024	exon17			ATTTTTAGAAGAT	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.12429A>T	2.37:g.186666462A>T	ENSP00000401306:p.Leu4143Phe	Somatic	53	0		WXS	Illumina HiSeq	.	31	12	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	A	14.90	2.672313	0.47781	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.64085	-0.08;-0.07	4.92	4.92	0.64577	.	.	.	.	.	T	0.57844	0.2081	L	0.29908	0.895	0.31093	N	0.710622	.	.	.	.	.	.	T	0.65005	-0.6273	7	0.87932	D	0	.	10.8807	0.46937	1.0:0.0:0.0:0.0	.	.	.	.	F	4232;4143	ENSP00000344403:L4232F;ENSP00000401306:L4143F	ENSP00000344403:L4232F	L	+	3	2	FSIP2	186374707	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.969000	0.29370	2.047000	0.60756	0.455000	0.32223	TTA	.		0.313	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
GLG1	2734	hgsc.bcm.edu;bcgsc.ca	37	16	74526937	74526937	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:74526937C>T	ENST00000422840.2	-	7	1151	c.1152G>A	c.(1150-1152)cgG>cgA	p.R384R	GLG1_ENST00000447066.2_Silent_p.R373R|GLG1_ENST00000205061.5_Silent_p.R384R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	384					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCACATTGCACCGGTATTTCT	0.448																																					p.R384R		.											.	.	.	0			c.G1152A						.						139.0	121.0	127.0					16																	74526937		2198	4300	6498	SO:0001819	synonymous_variant	2734	exon7			ATTGCACCGGTAT		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1152G>A	16.37:g.74526937C>T		Somatic	63	0		WXS	Illumina HiSeq	.	51	4	NM_001145667	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	ENST00000422840.2	37	CCDS45527.1																																																																																			.		0.448	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
OBSCN	84033	hgsc.bcm.edu	37	1	228480450	228480450	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:228480450C>T	ENST00000422127.1	+	40	10874	c.10830C>T	c.(10828-10830)tgC>tgT	p.C3610C	OBSCN_ENST00000284548.11_Silent_p.C3610C|OBSCN_ENST00000366707.4_Silent_p.C729C|OBSCN_ENST00000366709.4_Silent_p.C729C|OBSCN_ENST00000570156.2_Silent_p.C4039C|OBSCN_ENST00000359599.6_Silent_p.C2457C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3610	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGCGTGTGCGGGCAGGAGA	0.587																																					p.C4039C		.											OBSCN_ENST00000570156,colon,carcinoma,0,4	OBSCN_ENST00000570156	0	0			c.C12117T						.						118.0	119.0	118.0					1																	228480450		2141	4240	6381	SO:0001819	synonymous_variant	84033	exon45			CGTGTGCGGGCAG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10830C>T	1.37:g.228480450C>T		Somatic	36	0		WXS	Illumina HiSeq	.	43	2	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																			.		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ZNF480	147657	hgsc.bcm.edu	37	19	52825571	52825571	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:52825571G>T	ENST00000595962.1	+	5	1134	c.1068G>T	c.(1066-1068)gcG>gcT	p.A356A	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.A313A|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Silent_p.A279A	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATAGGATTGCGCTCCTTGTAC	0.383																																					p.A356A		.											ZNF480_ENST00000468240,NS,carcinoma,0,2	ZNF480_ENST00000468240	0	0			c.G1068T						.						57.0	61.0	60.0					19																	52825571		2203	4300	6503	SO:0001819	synonymous_variant	147657	exon5			GATTGCGCTCCTT	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1068G>T	19.37:g.52825571G>T		Somatic	39	0		WXS	Illumina HiSeq	.	41	2	NM_144684	Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	CCDS12850.2																																																																																			.		0.383	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684	
OR2T33	391195	hgsc.bcm.edu	37	1	248436878	248436878	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:248436878G>A	ENST00000318021.2	-	1	260	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTAGTCAGCCGCCATTTTGGG	0.567																																					p.A80V		.											OR2T33,bladder,carcinoma,0,1	OR2T33	0	0			c.C239T						.						65.0	62.0	63.0					1																	248436878		2087	4077	6164	SO:0001583	missense	391195	exon1			TCAGCCGCCATTT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.239C>T	1.37:g.248436878G>A	ENSP00000324687:p.Ala80Val	Somatic	86	0		WXS	Illumina HiSeq	.	90	4	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	4.792	0.147207	0.09134	.	.	ENSG00000177212	ENST00000318021	T	0.00441	7.41	2.7	0.695	0.18070	GPCR, rhodopsin-like superfamily (1);	0.224332	0.22373	U	0.060913	T	0.00210	0.0006	L	0.33137	0.985	0.09310	N	1	P	0.43885	0.82	B	0.34652	0.187	T	0.34527	-0.9825	10	0.09084	T	0.74	.	5.7703	0.18249	0.4414:0.0:0.5586:0.0	.	80	Q8NG76	O2T33_HUMAN	V	80	ENSP00000324687:A80V	ENSP00000324687:A80V	A	-	2	0	OR2T33	246503501	0.484000	0.25964	0.379000	0.26080	0.203000	0.24098	3.948000	0.56660	0.408000	0.25621	0.494000	0.49563	GCG	.		0.567	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
LRRC4	64101	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	127669004	127669004	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:127669004G>T	ENST00000249363.3	-	2	1947	c.1690C>A	c.(1690-1692)Cgg>Agg	p.R564R	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	564					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TCAACAGTCCGGGCGGCTGTG	0.562																																					p.R564R		.											.	.	.	0			c.C1690A						.						72.0	57.0	62.0					7																	127669004		2200	4300	6500	SO:0001819	synonymous_variant	64101	exon2			CAGTCCGGGCGGC	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1690C>A	7.37:g.127669004G>T		Somatic	28	0		WXS	Illumina HiSeq	.	34	4	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	CCDS5799.1																																																																																			.		0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
MYH1	4619	hgsc.bcm.edu	37	17	10398547	10398547	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:10398547G>A	ENST00000226207.5	-	36	5351	c.5257C>T	c.(5257-5259)Cgc>Tgc	p.R1753C	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1753					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGCATTGCGGGCTTCCTGG	0.458																																					p.R1753C		.											MYH1,NS,carcinoma,0,1	MYH1	0	0			c.C5257T						.						267.0	226.0	240.0					17																	10398547		2203	4300	6503	SO:0001583	missense	4619	exon36			CATTGCGGGCTTC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5257C>T	17.37:g.10398547G>A	ENSP00000226207:p.Arg1753Cys	Somatic	74	0		WXS	Illumina HiSeq	.	47	2	NM_005963	Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169889	0.78452	.	.	ENSG00000109061	ENST00000226207	T	0.78924	-1.22	5.28	5.28	0.74379	Myosin tail (1);	0.159602	0.29335	U	0.012454	D	0.91355	0.7273	H	0.97186	3.955	0.58432	D	0.999999	D	0.69078	0.997	D	0.67548	0.952	D	0.93655	0.6976	10	0.87932	D	0	.	14.1553	0.65413	0.0:0.0:0.85:0.15	.	1753	P12882	MYH1_HUMAN	C	1753	ENSP00000226207:R1753C	ENSP00000226207:R1753C	R	-	1	0	MYH1	10339272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.883000	0.63128	2.618000	0.88619	0.561000	0.74099	CGC	.		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
TLE2	7089	hgsc.bcm.edu	37	19	3011031	3011031	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:3011031G>A	ENST00000262953.6	-	12	1263	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TLE2_ENST00000426948.2_Missense_Mutation_p.T348M|TLE2_ENST00000443826.3_Missense_Mutation_p.T212M|TLE2_ENST00000590536.1_Missense_Mutation_p.T335M|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000591529.1_Missense_Mutation_p.T348M|TLE2_ENST00000447365.2_Missense_Mutation_p.R43W|TLE2_ENST00000455444.2_Missense_Mutation_p.T212M|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	334	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCTGTCCGTGGAAGGTGC	0.647																																					p.T348M		.											TLE2,colon,carcinoma,0,1	TLE2	0	0			c.C1043T						.						14.0	18.0	16.0					19																	3011031		2070	4207	6277	SO:0001583	missense	7089	exon13			CTGTCCGTGGAAG	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1001C>T	19.37:g.3011031G>A	ENSP00000262953:p.Thr334Met	Somatic	59	0		WXS	Illumina HiSeq	.	42	2	NM_001144761	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	CCDS45911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944236|0.944236	0.18356|0.18356	.|.	.|.	ENSG00000065717|ENSG00000065717	ENST00000447365|ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T|T;T;T;T	0.58358|0.55413	0.34|0.64;0.52;0.52;0.87	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.231395	.|0.40554	.|N	.|0.001076	T|T	0.51278|0.51278	0.1665|0.1665	N|N	0.08118|0.08118	0|0	0.27957|0.27957	N|N	0.936925|0.936925	P|D;D;B;D;D	0.46987|0.89917	0.888|1.0;0.995;0.257;0.995;0.995	B|D;P;B;P;P	0.19391|0.80764	0.025|0.994;0.63;0.019;0.63;0.63	T|T	0.50215|0.50215	-0.8854|-0.8854	9|10	0.87932|0.44086	D|T	0|0.13	-11.1077|-11.1077	13.2567|13.2567	0.60083|0.60083	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	43|242;212;348;212;334	B4DE62|B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.|.;.;.;.;TLE2_HUMAN	W|M	43|334;212;328;212;348;242	ENSP00000406523:R43W|ENSP00000262953:T334M;ENSP00000413107:T212M;ENSP00000392427:T212M;ENSP00000392869:T348M	ENSP00000406523:R43W|ENSP00000262953:T334M	R|T	-|-	1|2	2|0	TLE2|TLE2	2962031|2962031	0.995000|0.995000	0.38212|0.38212	0.433000|0.433000	0.26760|0.26760	0.086000|0.086000	0.17979|0.17979	3.696000|3.696000	0.54757|0.54757	2.260000|2.260000	0.74910|0.74910	0.561000|0.561000	0.74099|0.74099	CGG|ACG	.		0.647	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	
PHLPP1	23239	hgsc.bcm.edu	37	18	60562374	60562374	+	Missense_Mutation	SNP	G	G	A	rs376292612		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:60562374G>A	ENST00000262719.5	+	5	2431	c.2197G>A	c.(2197-2199)Gtt>Att	p.V733I	PHLPP1_ENST00000400316.4_Missense_Mutation_p.V221I			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	733					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CCCGGCAGCCGTTGGAGTGAT	0.537																																					p.V733I		.											PHLPP1_ENST00000262719,NS,carcinoma,0,6	PHLPP1_ENST00000262719	0	0			c.G2197A						.	G	ILE/VAL	1,3825		0,1,1912	51.0	50.0	50.0		2197	5.8	0.9	18		50	0,8244		0,0,4122	no	missense	PHLPP1	NM_194449.2	29	0,1,6034	AA,AG,GG		0.0,0.0261,0.0083	benign	733/1718	60562374	1,12069	1913	4122	6035	SO:0001583	missense	23239	exon5			GCAGCCGTTGGAG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2197G>A	18.37:g.60562374G>A	ENSP00000262719:p.Val733Ile	Somatic	58	0		WXS	Illumina HiSeq	.	40	2	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297763	0.23650	2.61E-4	0.0	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.56444	0.46;0.46	5.81	5.81	0.92471	.	.	.	.	.	T	0.26629	0.0651	N	0.04746	-0.17	0.51767	D	0.999931	P	0.38992	0.653	B	0.26614	0.071	T	0.39014	-0.9634	9	0.02654	T	1	-18.3762	20.0831	0.97789	0.0:0.0:1.0:0.0	.	733	O60346	PHLP1_HUMAN	I	221;733	ENSP00000383170:V221I;ENSP00000262719:V733I	ENSP00000262719:V733I	V	+	1	0	PHLPP1	58713354	1.000000	0.71417	0.856000	0.33681	0.525000	0.34531	5.757000	0.68766	2.765000	0.95021	0.655000	0.94253	GTT	.		0.537	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
FLG2	388698	hgsc.bcm.edu	37	1	152323970	152323970	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:152323970C>T	ENST00000388718.5	-	3	6364	c.6292G>A	c.(6292-6294)Gct>Act	p.A2098T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2098					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTTCCAGCTGTCCTTGAC	0.522																																					p.A2098T		.											FLG2,NS,carcinoma,0,1	FLG2	0	0			c.G6292A						.						485.0	443.0	457.0					1																	152323970		2203	4300	6503	SO:0001583	missense	388698	exon3			TTCCAGCTGTCCT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6292G>A	1.37:g.152323970C>T	ENSP00000373370:p.Ala2098Thr	Somatic	68	0		WXS	Illumina HiSeq	.	57	3	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.772	-0.255540	0.05829	.	.	ENSG00000143520	ENST00000388718	T	0.02216	4.39	4.32	-8.64	0.00874	.	.	.	.	.	T	0.00241	0.0007	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48547	-0.9026	9	0.13108	T	0.6	2.5472	6.7246	0.23348	0.2382:0.5153:0.0:0.2464	.	2098	Q5D862	FILA2_HUMAN	T	2098	ENSP00000373370:A2098T	ENSP00000373370:A2098T	A	-	1	0	FLG2	150590594	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.001000	0.00161	-1.903000	0.01093	-1.085000	0.02201	GCT	.		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
APC	324	hgsc.bcm.edu	37	5	112155042	112155042	+	Splice_Site	SNP	G	G	T	rs397514030		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:112155042G>T	ENST00000457016.1	+	10	1692		c.e10+1		APC_ENST00000508376.2_Splice_Site|APC_ENST00000257430.4_Splice_Site			P25054	APC_HUMAN	adenomatous polyposis coli						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)			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)		AAAAATCCAAGTATGTTCTCT	0.393		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"""	APC,colon,carcinoma,0,1	APC	0	0			c.1258+1G>T	GRCh37	CS021159	APC	S		.						54.0	52.0	53.0					5																	112155042		2202	4300	6502	SO:0001630	splice_region_variant	324	exon8	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ATCCAAGTATGTT	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.1312+1G>T	5.37:g.112155042G>T		Somatic	33	0		WXS	Illumina HiSeq	.	34	2	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Splice_Site	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167836	0.78339	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APC	112182941	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.755000	0.94549	0.650000	0.86243	.	.		0.393	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	Intron
DNM2	1785	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	10941703	10941703	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:10941703G>A	ENST00000355667.6	+	21	2673	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K	DNM2_ENST00000359692.6_Missense_Mutation_p.E861K|DNM2_ENST00000389253.4_Missense_Mutation_p.E865K|DNM2_ENST00000585892.1_Missense_Mutation_p.E864K|DNM2_ENST00000314646.5_Missense_Mutation_p.E865K|DNM2_ENST00000408974.4_Missense_Mutation_p.E861K	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	865	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCGCCCAGCCGAGCCATCCCT	0.706			"""F, N, Splice, Mis, O"""		ETP ALL																																p.E865K		.		Rec	yes		19	19p13.2	1785	dynamin 2		L	.	.	.	0			c.G2593A						.						15.0	16.0	16.0					19																	10941703		2200	4293	6493	SO:0001583	missense	1785	exon21			CCAGCCGAGCCAT		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2593G>A	19.37:g.10941703G>A	ENSP00000347890:p.Glu865Lys	Somatic	28	0		WXS	Illumina HiSeq	.	27	8	NM_001005361	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671525	0.88348	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.51817	0.69;0.69;0.69	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.66939	2.045	0.47123	D	0.999325	D;D;D;D;D	0.65815	0.992;0.992;0.995;0.992;0.992	P;P;D;P;P	0.68192	0.905;0.905;0.956;0.905;0.905	T	0.71083	-0.4695	10	0.87932	D	0	.	16.8243	0.85926	0.0:0.0:1.0:0.0	.	593;861;861;865;865	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	K	861;861;865;865;865	ENSP00000386192:E861K;ENSP00000373905:E865K;ENSP00000313164:E865K	ENSP00000313164:E865K	E	+	1	0	DNM2	10802703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.025000	0.93694	2.329000	0.79093	0.491000	0.48974	GAG	.		0.706	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945	
VHL	7428	hgsc.bcm.edu	37	3	10191635	10191635	+	Silent	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:10191635C>A	ENST00000256474.2	+	3	1468	c.628C>A	c.(628-630)Cgg>Agg	p.R210R	VHL_ENST00000345392.2_Silent_p.R169R|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	210					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.R210fs*>3(1)|p.R210fs*6(1)|p.Q209fs*>3(1)|p.R210W(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)		TGCACATCAACGGATGGGAGA	0.478		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																												p.R210R		.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	VHL,NS,carcinoma,-2,1	VHL	-2	4	Deletion - Frameshift(2)|Substitution - Missense(1)|Insertion - Frameshift(1)	kidney(3)|central_nervous_system(1)	c.C628A						.						61.0	52.0	55.0					3																	10191635		2203	4300	6503	SO:0001819	synonymous_variant	7428	exon3	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	CATCAACGGATGG	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.628C>A	3.37:g.10191635C>A		Somatic	26	0		WXS	Illumina HiSeq	.	23	2	NM_000551	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																			.		0.478	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
DCP1B	196513	hgsc.bcm.edu	37	12	2062353	2062353	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:2062353G>C	ENST00000280665.6	-	7	832	c.753C>G	c.(751-753)caC>caG	p.H251Q	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.H125Q|DCP1B_ENST00000397173.4_Missense_Mutation_p.H149Q	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	251				H -> HQ (in Ref. 1; AAN62764, 2; BAB71118 and 4; AAH15368/AAH43437). {ECO:0000305}.	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgGTGGAGAGTCT	0.552																																					p.H251Q		.											DCP1B,rectum,carcinoma,0,1	DCP1B	0	0			c.C753G						.						36.0	42.0	40.0					12																	2062353		2203	4300	6503	SO:0001583	missense	196513	exon7			CTGCTGGTGGAGA	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.753C>G	12.37:g.2062353G>C	ENSP00000280665:p.His251Gln	Somatic	35	2		WXS	Illumina HiSeq	.	41	3	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.346987	0.01266	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.17054	2.32;2.31;2.3	4.5	0.369	0.16151	.	1.548950	0.03620	N	0.236163	T	0.16769	0.0403	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.41822	-0.9487	10	0.12766	T	0.61	0.002	15.1763	0.72913	0.0:0.5449:0.4551:0.0	.	149;251	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	Q	251;149;125	ENSP00000280665:H251Q;ENSP00000380358:H149Q;ENSP00000444374:H125Q	ENSP00000280665:H251Q	H	-	3	2	DCP1B	1932614	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.086000	0.11233	-0.095000	0.12351	-0.835000	0.03068	CAC	.		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
BPHL	670	hgsc.bcm.edu;bcgsc.ca	37	6	3127475	3127475	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:3127475G>T	ENST00000380379.5	+	3	260		c.e3-1		BPHL_ENST00000434640.1_Splice_Site|BPHL_ENST00000380368.2_Splice_Site|BPHL_ENST00000380375.3_Splice_Site	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)						cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCTGTTTTTAGGAAGTGGAGA	0.448																																					.		.											.	.	.	0			c.212-1G>T						.						104.0	101.0	102.0					6																	3127475		2203	4300	6503	SO:0001630	splice_region_variant	670	exon3			TTTTTAGGAAGTG	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.212-1G>T	6.37:g.3127475G>T		Somatic	35	0		WXS	Illumina HiSeq	.	48	4	NM_004332	Q00306|Q13855|Q3KP51	Splice_Site	SNP	ENST00000380379.5	37	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114082	0.77210	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6069	0.95585	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPHL	3072474	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.873000	0.92357	2.706000	0.92434	0.655000	0.94253	.	.		0.448	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5		Intron
C3orf67	200844	hgsc.bcm.edu	37	3	58870322	58870322	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:58870322G>T	ENST00000482387.1	-	3	385	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	C3orf67_ENST00000295966.7_Missense_Mutation_p.R97S|C3orf67_ENST00000472469.1_Missense_Mutation_p.R17S|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408																																					p.R97S		.											C3orf67,NS,carcinoma,0,1	C3orf67	0	0			c.C289A						.						211.0	202.0	205.0					3																	58870322		2203	4300	6503	SO:0001583	missense	200844	exon7			TTTGGCGAAGTTT	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.289C>A	3.37:g.58870322G>T	ENSP00000417122:p.Arg97Ser	Somatic	64	0		WXS	Illumina HiSeq	.	44	2	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	G	20.8	4.057796	0.76074	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.48836	0.8;0.8;0.8	5.61	5.61	0.85477	.	0.410282	0.27906	N	0.017375	T	0.56992	0.2023	L	0.52573	1.65	0.80722	D	1	D;D	0.56746	0.977;0.96	P;P	0.55303	0.773;0.756	T	0.52726	-0.8537	9	.	.	.	-1.7255	16.5603	0.84551	0.0:0.0:1.0:0.0	.	17;97	C9J3M8;Q6ZVT6-2	.;.	S	97;97;17	ENSP00000295966:R97S;ENSP00000417122:R97S;ENSP00000417271:R17S	.	R	-	1	0	C3orf67	58845362	0.998000	0.40836	0.987000	0.45799	0.588000	0.36517	3.374000	0.52402	2.638000	0.89438	0.655000	0.94253	CGC	.		0.408	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
DNASE1L2	1775	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	2287818	2287818	+	Silent	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:2287818G>C	ENST00000564065.1	+	5	1643	c.642G>C	c.(640-642)gcG>gcC	p.A214A	DNASE1L2_ENST00000567494.1_Silent_p.A214A|DNASE1L2_ENST00000382437.4_Silent_p.A193A|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_Silent_p.A214A|RP11-304L19.11_ENST00000565709.1_RNA			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	214					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						ATGTGCGGGCGCAGGACTGGG	0.672																																					p.A214A		.											.	.	.	0			c.G642C						.						18.0	24.0	22.0					16																	2287818		2090	4199	6289	SO:0001819	synonymous_variant	1775	exon6			GCGGGCGCAGGAC	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.642G>C	16.37:g.2287818G>C		Somatic	32	0		WXS	Illumina HiSeq	.	19	4	NM_001374	E9PBY4|Q6JVM2|Q6JVM3	Silent	SNP	ENST00000564065.1	37	CCDS42105.1																																																																																			.		0.672	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1	NM_001374	
CTNNA3	29119	hgsc.bcm.edu	37	10	69281681	69281681	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:69281681G>T	ENST00000433211.2	-	5	672	c.498C>A	c.(496-498)aaC>aaA	p.N166K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N166K|CTNNA3_ENST00000545309.1_Missense_Mutation_p.N166K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGTCAGATTTGTTGGCAACAT	0.393																																					p.N166K		.											.	.	.	0			c.C498A						.						104.0	102.0	103.0					10																	69281681		2203	4300	6503	SO:0001583	missense	29119	exon5			AGATTTGTTGGCA	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.498C>A	10.37:g.69281681G>T	ENSP00000389714:p.Asn166Lys	Somatic	57	0		WXS	Illumina HiSeq	.	45	3	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885073	0.33255	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.19	3.27	0.37495	.	0.103397	0.42172	D	0.000752	T	0.40272	0.1110	L	0.46157	1.445	0.31409	N	0.675758	B;B;P;B	0.35821	0.099;0.284;0.523;0.336	B;B;B;B	0.38985	0.078;0.078;0.287;0.085	T	0.51694	-0.8673	10	0.72032	D	0.01	-11.2261	6.6107	0.22749	0.2234:0.0:0.7766:0.0	.	166;166;166;166	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	166	ENSP00000389714:N166K;ENSP00000362849:N166K;ENSP00000441444:N166K;ENSP00000330570:N166K	ENSP00000330570:N166K	N	-	3	2	CTNNA3	68951687	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.779000	0.38624	1.127000	0.42034	0.467000	0.42956	AAC	.		0.393	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
CLRN3	119467	hgsc.bcm.edu	37	10	129676685	129676685	+	Splice_Site	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:129676685C>T	ENST00000368671.3	-	3	572		c.e3-1			NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACGAAGGATGCTGAAAGGAAG	0.418																																					.		.											CLRN3,NS,carcinoma,0,2	CLRN3	0	1	Unknown(1)	endometrium(1)	c.410-1G>A						.						97.0	74.0	82.0					10																	129676685		2203	4300	6503	SO:0001630	splice_region_variant	119467	exon4			AGGATGCTGAAAG	BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.410-1G>A	10.37:g.129676685C>T		Somatic	39	0		WXS	Illumina HiSeq	.	46	3	NM_152311	Q6MZX8	Splice_Site	SNP	ENST00000368671.3	37	CCDS7656.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388424	0.42308	.	.	ENSG00000180745	ENST00000368671	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1318	0.81446	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLRN3	129566675	0.998000	0.40836	0.730000	0.30809	0.004000	0.04260	4.566000	0.60843	2.324000	0.78689	0.650000	0.86243	.	.		0.418	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050987.1	NM_152311	Intron
HUWE1	10075	hgsc.bcm.edu	37	X	53570921	53570921	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:53570921C>A	ENST00000342160.3	-	72	11717	c.11260G>T	c.(11260-11262)Ggt>Tgt	p.G3754C	HUWE1_ENST00000262854.6_Missense_Mutation_p.G3754C|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3754					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAGCCTAAACCGGAGGAACCT	0.527																																					p.G3754C		.											.	.	.	0			c.G11260T						.						36.0	26.0	29.0					X																	53570921		2203	4298	6501	SO:0001583	missense	10075	exon73			CTAAACCGGAGGA	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11260G>T	X.37:g.53570921C>A	ENSP00000340648:p.Gly3754Cys	Somatic	68	0		WXS	Illumina HiSeq	.	73	3	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.976|8.976	0.974078|0.974078	0.18736|0.18736	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.39056|.	1.1;1.1|.	4.92|4.92	3.91|3.91	0.45181|0.45181	.|.	0.190771|.	0.43110|.	D|.	0.000619|.	T|T	0.37999|0.37999	0.1024|0.1024	N|N	0.19112|0.19112	0.55|0.55	0.43152|0.43152	D|D	0.994925|0.994925	D;P;P|.	0.65815|.	0.995;0.926;0.956|.	P;P;P|.	0.49708|.	0.62;0.453;0.531|.	T|T	0.16453|0.16453	-1.0402|-1.0402	10|5	0.54805|.	T|.	0.06|.	.|.	6.112|6.112	0.20106|0.20106	0.0:0.7152:0.0:0.2848|0.0:0.7152:0.0:0.2848	.|.	591;3754;3738|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	C|L	3754|2787;591	ENSP00000340648:G3754C;ENSP00000262854:G3754C|.	ENSP00000262854:G3754C|.	G|R	-|-	1|2	0|0	HUWE1|HUWE1	53587646|53587646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	1.841000|1.841000	0.39240|0.39240	2.046000|2.046000	0.60703|0.60703	0.411000|0.411000	0.27672|0.27672	GGT|CGG	.		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
PHLDB1	23187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	118499246	118499246	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:118499246G>T	ENST00000361417.2	+	7	2118	c.1707G>T	c.(1705-1707)gtG>gtT	p.V569V	PHLDB1_ENST00000356063.5_Silent_p.V569V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	569										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACTTGCGGGTGCCTGTCACAA	0.617																																					p.V569V		.											.	.	.	0			c.G1707T						.						24.0	24.0	24.0					11																	118499246		2176	4252	6428	SO:0001819	synonymous_variant	23187	exon6			GCGGGTGCCTGTC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1707G>T	11.37:g.118499246G>T		Somatic	73	0		WXS	Illumina HiSeq	.	50	13	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	CCDS8401.1																																																																																			.		0.617	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
ZNF135	7694	hgsc.bcm.edu	37	19	58578438	58578438	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:58578438A>G	ENST00000313434.5	+	5	687	c.586A>G	c.(586-588)Agg>Ggg	p.R196G	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.R208G|ZNF135_ENST00000359978.6_Missense_Mutation_p.R208G|ZNF135_ENST00000439855.2_Missense_Mutation_p.R196G|ZNF135_ENST00000506786.1_Missense_Mutation_p.R154G|ZNF135_ENST00000401053.4_Missense_Mutation_p.R220G	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	196					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGTGGAAAAAGGGAGAAGCC	0.458																																					p.R220G		.											ZNF135_ENST00000401053,right_upper_lobe,carcinoma,0,2	ZNF135_ENST00000401053	0	0			c.A658G						.						65.0	64.0	65.0					19																	58578438		2203	4300	6503	SO:0001583	missense	7694	exon4			GGAAAAAGGGAGA	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.586A>G	19.37:g.58578438A>G	ENSP00000321406:p.Arg196Gly	Somatic	79	0		WXS	Illumina HiSeq	.	54	3	NM_007134	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	A	8.387	0.838946	0.16891	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.06294	3.42;3.49;3.43;3.43;3.43;3.32	2.94	2.94	0.34122	.	.	.	.	.	T	0.05960	0.0155	L	0.42245	1.32	0.09310	N	0.999991	B;B;B	0.23185	0.004;0.081;0.01	B;B;B	0.18263	0.003;0.021;0.004	T	0.28038	-1.0056	9	0.44086	T	0.13	.	4.798	0.13282	0.8599:0.0:0.1401:0.0	.	208;196;208	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	G	208;220;208;196;196;208;154	ENSP00000441410:R220G;ENSP00000369437:R208G;ENSP00000444828:R196G;ENSP00000321406:R196G;ENSP00000422074:R208G;ENSP00000427691:R154G	ENSP00000321406:R196G	R	+	1	2	ZNF135	63270250	.	.	0.003000	0.11579	0.052000	0.14988	.	.	1.609000	0.50190	0.374000	0.22700	AGG	.		0.458	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
KMT2D	8085	hgsc.bcm.edu	37	12	49420526	49420526	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:49420526C>T	ENST00000301067.7	-	48	15222	c.15223G>A	c.(15223-15225)Ggg>Agg	p.G5075R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5075					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G5075R(1)|p.G4805R(1)									ATCAGTGCCCCGCCCTGGGTC	0.627																																					p.G5075R		.											MLL2_ENST00000301067,colon,carcinoma,0,2	MLL2_ENST00000301067	0	2	Substitution - Missense(2)	large_intestine(2)	c.G15223A						.						44.0	49.0	47.0					12																	49420526		2079	4201	6280	SO:0001583	missense	8085	exon48			GTGCCCCGCCCTG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15223G>A	12.37:g.49420526C>T	ENSP00000301067:p.Gly5075Arg	Somatic	25	0		WXS	Illumina HiSeq	.	15	2	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329952	0.41297	.	.	ENSG00000167548	ENST00000301067	T	0.70399	-0.48	4.48	4.48	0.54585	.	0.000000	0.37304	N	0.002158	D	0.86732	0.6003	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89979	0.4099	10	0.87932	D	0	.	16.3049	0.82844	0.0:1.0:0.0:0.0	.	5075	O14686	MLL2_HUMAN	R	5075	ENSP00000301067:G5075R	ENSP00000301067:G5075R	G	-	1	0	MLL2	47706793	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.818000	0.86416	2.226000	0.72624	0.655000	0.94253	GGG	.		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
RBFA	79863	hgsc.bcm.edu	37	18	77805954	77805954	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:77805954G>T	ENST00000306735.5	+	7	969	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	277					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGATGAAAAAGGGAAGGAAGA	0.572																																					p.K277N		.											RBFA,colon,carcinoma,0,1	RBFA	0	0			c.G831T						.						74.0	76.0	75.0					18																	77805954		2203	4300	6503	SO:0001583	missense	79863	exon7			GAAAAAGGGAAGG	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.831G>T	18.37:g.77805954G>T	ENSP00000305696:p.Lys277Asn	Somatic	23	0		WXS	Illumina HiSeq	.	19	2	NM_024805	Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907054	0.33628	.	.	ENSG00000101546	ENST00000306735	T	0.26067	1.76	4.66	3.78	0.43462	.	0.826906	0.10620	N	0.653493	T	0.25344	0.0616	L	0.54323	1.7	0.25760	N	0.984951	B	0.33073	0.396	B	0.29785	0.107	T	0.13045	-1.0524	10	0.48119	T	0.1	-8.2465	10.2915	0.43599	0.0958:0.0:0.9042:0.0	.	277	Q8N0V3	RBFA_HUMAN	N	277	ENSP00000305696:K277N	ENSP00000305696:K277N	K	+	3	2	RBFA	75906942	0.672000	0.27530	0.006000	0.13384	0.094000	0.18550	1.341000	0.33907	1.087000	0.41251	-0.253000	0.11424	AAG	.		0.572	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805	
F7	2155	hgsc.bcm.edu	37	13	113770013	113770013	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:113770013G>T	ENST00000375581.3	+	6	505	c.470G>T	c.(469-471)gGc>gTc	p.G157V	F7_ENST00000541084.1_Missense_Mutation_p.G88V|F7_ENST00000346342.3_Missense_Mutation_p.G135V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	157	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> C (in FA7D).|G -> S (in FA7D). {ECO:0000269|PubMed:10862079, ECO:0000269|PubMed:18976247}.|G -> V (in FA7D). {ECO:0000269|PubMed:11129332}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GAGAACGGCGGCTGTGAGCAG	0.642																																					p.G157V		.											F7,NS,carcinoma,0,1	F7	0	0			c.G470T	GRCh37	CM002763	F7	M		.						55.0	44.0	48.0					13																	113770013		2203	4300	6503	SO:0001583	missense	2155	exon6			ACGGCGGCTGTGA		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.470G>T	13.37:g.113770013G>T	ENSP00000364731:p.Gly157Val	Somatic	34	0		WXS	Illumina HiSeq	.	21	2	NM_000131	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254557	0.39896	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.99766	-6.69;-2.81;-6.69	4.3	2.54	0.30619	Epidermal growth factor-like (1);	0.379201	0.26262	N	0.025394	D	0.99743	0.9898	M	0.94142	3.5	0.80722	D	1	D;D;D;D	0.69078	0.995;0.992;0.997;0.994	D;D;D;D	0.69479	0.964;0.941;0.959;0.911	D	0.98991	1.0808	10	0.87932	D	0	.	6.9395	0.24484	0.2933:0.0:0.7067:0.0	.	88;88;135;157	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	V	135;88;157	ENSP00000329546:G135V;ENSP00000442051:G88V;ENSP00000364731:G157V	ENSP00000329546:G135V	G	+	2	0	F7	112818014	1.000000	0.71417	0.934000	0.37439	0.208000	0.24298	2.668000	0.46816	0.431000	0.26258	0.563000	0.77884	GGC	.		0.642	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131	
ENOSF1	55556	hgsc.bcm.edu	37	18	674365	674365	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:674365C>A	ENST00000251101.7	-	16	1360	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	ENOSF1_ENST00000580982.1_Missense_Mutation_p.K348N|ENOSF1_ENST00000319815.6_Missense_Mutation_p.K194N|ENOSF1_ENST00000340116.7_Missense_Mutation_p.K431N|ENOSF1_ENST00000383578.3_Missense_Mutation_p.K342N|ENOSF1_ENST00000583973.1_5'UTR	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	424					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ACTGGTGTTTCTTTACAGATT	0.393																																					p.K431N		.											.	.	.	0			c.G1293T						.						209.0	216.0	214.0					18																	674365		2203	4300	6503	SO:0001583	missense	55556	exon15			GTGTTTCTTTACA	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.1272G>T	18.37:g.674365C>A	ENSP00000251101:p.Lys424Asn	Somatic	54	0		WXS	Illumina HiSeq	.	62	3	NM_202758	A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804433	0.31869	.	.	ENSG00000132199	ENST00000383578;ENST00000319815;ENST00000251101;ENST00000340116	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.3	4.42	0.53409	.	0.304968	0.35320	N	0.003287	T	0.34193	0.0889	L	0.41710	1.295	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.0;0.002	T	0.08889	-1.0700	10	0.19147	T	0.46	.	14.945	0.71023	0.0:0.856:0.144:0.0	.	431;243;455;424;342	A6NMP3;B3KXE4;Q6ZS08;Q7L5Y1;Q7L5Y1-2	.;.;.;ENOF1_HUMAN;.	N	342;194;424;431	ENSP00000373072:K342N;ENSP00000313346:K194N;ENSP00000251101:K424N;ENSP00000345974:K431N	ENSP00000251101:K424N	K	-	3	2	ENOSF1	664365	1.000000	0.71417	0.818000	0.32626	0.996000	0.88848	2.040000	0.41203	1.214000	0.43395	0.655000	0.94253	AAG	.		0.393	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512	
CCDC80	151887	hgsc.bcm.edu	37	3	112357186	112357186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:112357186C>A	ENST00000206423.3	-	2	2520	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E523*|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	523	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.E523*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACCTGCAGCTCGTCCTCCAGC	0.448																																					p.E523X		.											CCDC80,NS,carcinoma,0,1	CCDC80	0	1	Substitution - Nonsense(1)	lung(1)	c.G1567T						.						60.0	61.0	61.0					3																	112357186		2203	4300	6503	SO:0001587	stop_gained	151887	exon2			GCAGCTCGTCCTC	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1567G>T	3.37:g.112357186C>A	ENSP00000206423:p.Glu523*	Somatic	32	0		WXS	Illumina HiSeq	.	37	2	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Nonsense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	48	14.301043	0.99789	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	.	.	.	5.46	5.46	0.80206	.	0.218238	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-35.6478	10.1358	0.42706	0.0:0.7899:0.1376:0.0725	.	.	.	.	X	523;523;151	.	ENSP00000206423:E523X	E	-	1	0	CCDC80	113839876	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	2.468000	0.45102	2.741000	0.93983	0.555000	0.69702	GAG	.		0.448	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
ZPBP2	124626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38028702	38028702	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:38028702G>C	ENST00000348931.4	+	5	777	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000377940.3_Missense_Mutation_p.E174Q	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	196					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAATTCCAGAACATGGCCT	0.299																																					p.E196Q		.											.	.	.	0			c.G586C						.						66.0	59.0	62.0					17																	38028702		2202	4299	6501	SO:0001583	missense	124626	exon5			ATTCCAGAACATG	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.586G>C	17.37:g.38028702G>C	ENSP00000335384:p.Glu196Gln	Somatic	34	0		WXS	Illumina HiSeq	.	43	6	NM_199321	A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	G	5.251	0.231709	0.09969	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.53423	0.62;0.62	5.48	1.97	0.26223	.	0.495381	0.20223	N	0.096651	T	0.32010	0.0815	L	0.44542	1.39	0.21325	N	0.999727	B;B	0.29037	0.231;0.001	B;B	0.22601	0.04;0.005	T	0.19353	-1.0308	10	0.48119	T	0.1	-4.2489	3.4872	0.07624	0.6568:0.0:0.1479:0.1953	.	174;196	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	Q	196;174	ENSP00000335384:E196Q;ENSP00000367174:E174Q	ENSP00000335384:E196Q	E	+	1	0	ZPBP2	35282228	0.990000	0.36364	0.781000	0.31783	0.348000	0.29142	1.655000	0.37345	0.487000	0.27698	-0.384000	0.06662	GAA	.		0.299	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844	
WDR33	55339	hgsc.bcm.edu	37	2	128520647	128520647	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:128520647C>T	ENST00000322313.4	-	7	871	c.713G>A	c.(712-714)aGa>aAa	p.R238K	WDR33_ENST00000393006.1_Missense_Mutation_p.R238K|WDR33_ENST00000409658.3_3'UTR	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	238					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCGGAGAATTCTTTCCTCATG	0.393																																					p.R238K		.											WDR33,NS,carcinoma,0,1	WDR33	0	0			c.G713A						.						111.0	105.0	107.0					2																	128520647		2203	4300	6503	SO:0001583	missense	55339	exon7			AGAATTCTTTCCT		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.713G>A	2.37:g.128520647C>T	ENSP00000325377:p.Arg238Lys	Somatic	56	0		WXS	Illumina HiSeq	.	45	2	NM_001006623	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260727	0.59431	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006	T;T;T	0.60171	0.21;0.21;5.0	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	L	0.39566	1.225	0.80722	D	1	B;D	0.57257	0.011;0.979	B;D	0.74023	0.009;0.982	T	0.67558	-0.5640	10	0.45353	T	0.12	-15.965	20.3552	0.98837	0.0:1.0:0.0:0.0	.	238;238	Q6NUQ0;Q9C0J8	.;WDR33_HUMAN	K	238;160;238	ENSP00000325377:R238K;ENSP00000397547:R160K;ENSP00000376730:R238K	ENSP00000325377:R238K	R	-	2	0	WDR33	128237117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.812000	0.96745	0.558000	0.71614	AGA	.		0.393	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
ETS1	2113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:128354828G>A	ENST00000319397.6	-	5	929	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_ENST00000535549.1_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.S207L|ETS1_ENST00000345075.4_Missense_Mutation_p.S207L|ETS1_ENST00000526145.2_Missense_Mutation_p.S207L|ETS1_ENST00000392668.4_Missense_Mutation_p.S251L	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207	Activation domain; required for transcription activation.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S207L(1)|p.S251L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGAATGACCGAGGGGTAGTC	0.522																																					p.S251L		.											ETS1_ENST00000392668,NS,carcinoma,0,2	ETS1_ENST00000392668	0	2	Substitution - Missense(2)	lung(2)	c.C752T						.						144.0	129.0	134.0					11																	128354828		2201	4297	6498	SO:0001583	missense	2113	exon7			ATGACCGAGGGGT		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.620C>T	11.37:g.128354828G>A	ENSP00000324578:p.Ser207Leu	Somatic	36	0		WXS	Illumina HiSeq	.	25	9	NM_001143820	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765361	0.31228	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.47177	3.07;2.69;0.85;2.72;3.07	5.67	5.67	0.87782	.	0.505280	0.19302	N	0.117612	T	0.31167	0.0788	N	0.12182	0.205	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.08086	-1.0739	10	0.39692	T	0.17	.	13.0358	0.58870	0.0736:0.0:0.9264:0.0	.	207;207;251	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	L	207;251;207;207;207	ENSP00000340485:S207L;ENSP00000376436:S251L;ENSP00000435666:S207L;ENSP00000324578:S207L;ENSP00000433500:S207L	ENSP00000324578:S207L	S	-	2	0	ETS1	127860038	0.998000	0.40836	0.943000	0.38184	0.742000	0.42306	3.738000	0.55067	2.673000	0.90976	0.561000	0.74099	TCG	.		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	
RP1	6101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	55537426	55537426	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:55537426C>T	ENST00000220676.1	+	4	1132	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	328					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAATCAAGACGGCACTATGA	0.323																																					p.D328D	Colon(91;1014 1389 7634 14542 40420)	.											.	.	.	0			c.C984T						.						64.0	65.0	65.0					8																	55537426		2203	4299	6502	SO:0001819	synonymous_variant	6101	exon4			TCAAGACGGCACT	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.984C>T	8.37:g.55537426C>T		Somatic	51	0		WXS	Illumina HiSeq	.	39	5	NM_006269		Silent	SNP	ENST00000220676.1	37	CCDS6160.1																																																																																			.		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
SNX31	169166	hgsc.bcm.edu	37	8	101601166	101601166	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr8:101601166G>T	ENST00000311812.2	-	11	1170	c.1020C>A	c.(1018-1020)aaC>aaA	p.N340K	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.N241K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	340					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTAAGTTCTGGTTGAGAGTTC	0.418																																					p.N340K		.											SNX31,NS,carcinoma,0,1	SNX31	0	0			c.C1020A						.						111.0	104.0	106.0					8																	101601166		2203	4300	6503	SO:0001583	missense	169166	exon11			GTTCTGGTTGAGA		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1020C>A	8.37:g.101601166G>T	ENSP00000312368:p.Asn340Lys	Somatic	63	0		WXS	Illumina HiSeq	.	40	2	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047335	0.55110	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22539	2.3;1.95	5.79	4.02	0.46733	.	0.229286	0.37857	N	0.001908	T	0.18045	0.0433	L	0.54323	1.7	0.40829	D	0.983571	B;P	0.39665	0.372;0.682	B;B	0.32980	0.114;0.156	T	0.03875	-1.0996	10	0.27785	T	0.31	-16.7112	11.496	0.50408	0.1468:0.0:0.8532:0.0	.	241;340	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	K	340;241	ENSP00000312368:N340K;ENSP00000405024:N241K	ENSP00000312368:N340K	N	-	3	2	SNX31	101670342	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.748000	0.47483	0.799000	0.34018	0.655000	0.94253	AAC	.		0.418	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	
FAM98B	283742	hgsc.bcm.edu	37	15	38776827	38776827	+	IGR	SNP	T	T	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:38776827T>A	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G423G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		gtggtggtggtggtggtggag	0.443																																					p.G423G		.											FAM98B_ENST00000397609,NS,carcinoma,0,1	FAM98B_ENST00000397609	0	0			c.T1269A						.						19.0	18.0	18.0					15																	38776827		1515	3413	4928	SO:0001628	intergenic_variant	283742	exon8			TGGTGGTGGTGGT		CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776827T>A		Somatic	9	0		WXS	Illumina HiSeq	.	10	2	NM_173611	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																			.		0.443	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
NUP210L	91181	hgsc.bcm.edu	37	1	153965494	153965494	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:153965494G>T	ENST00000368559.3	-	39	5634	c.5563C>A	c.(5563-5565)Cca>Aca	p.P1855T	NUP210L_ENST00000271854.3_Missense_Mutation_p.P1703T|NUP210L_ENST00000368553.1_Missense_Mutation_p.P636T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1855					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTTTACCTGGCTGTGGTGTT	0.398																																					p.P1855T		.											.	.	.	0			c.C5563A						.						170.0	155.0	160.0					1																	153965494		1892	4119	6011	SO:0001583	missense	91181	exon39			TACCTGGCTGTGG	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5563C>A	1.37:g.153965494G>T	ENSP00000357547:p.Pro1855Thr	Somatic	84	0		WXS	Illumina HiSeq	.	59	4	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393435	0.25205	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23147	3.59;1.92;3.25	4.75	2.86	0.33363	.	0.355612	0.24126	N	0.041308	T	0.04815	0.0130	L	0.34521	1.04	0.22737	N	0.998799	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.42766	-0.9432	10	0.13108	T	0.6	.	5.7802	0.18301	0.0921:0.0:0.5669:0.341	.	1703;1855	E7EP56;Q5VU65	.;P210L_HUMAN	T	1855;636;1703	ENSP00000357547:P1855T;ENSP00000357541:P636T;ENSP00000271854:P1703T	ENSP00000271854:P1703T	P	-	1	0	NUP210L	152232118	0.001000	0.12720	0.806000	0.32338	0.878000	0.50629	-0.545000	0.06069	0.416000	0.25844	0.484000	0.47621	CCA	.		0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
OR6C2	341416	hgsc.bcm.edu	37	12	55846882	55846882	+	Silent	SNP	G	G	T	rs142733366		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:55846882G>T	ENST00000322678.1	+	1	885	c.885G>T	c.(883-885)gtG>gtT	p.V295V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	295					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V295V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ACAAGCAAGTGAAACAAGCTT	0.398																																					p.V295V		.											OR6C2,shoulder,malignant_melanoma,0,1	OR6C2	0	1	Substitution - coding silent(1)	skin(1)	c.G885T						.						90.0	88.0	89.0					12																	55846882		2203	4300	6503	SO:0001819	synonymous_variant	341416	exon1			GCAAGTGAAACAA	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.885G>T	12.37:g.55846882G>T		Somatic	25	0		WXS	Illumina HiSeq	.	35	2	NM_054105		Silent	SNP	ENST00000322678.1	37	CCDS31824.1																																																																																			.		0.398	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105	
NCOA4	8031	hgsc.bcm.edu;bcgsc.ca	37	10	51580885	51580885	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:51580885G>T	ENST00000443446.1	+	4	517	c.288G>T	c.(286-288)ttG>ttT	p.L96F	NCOA4_ENST00000374082.1_Missense_Mutation_p.L96F|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000452682.1_Missense_Mutation_p.L112F|NCOA4_ENST00000438493.1_Missense_Mutation_p.L112F|NCOA4_ENST00000374087.4_Missense_Mutation_p.L96F|NCOA4_ENST00000344348.6_Missense_Mutation_p.L96F|NCOA4_ENST00000498586.1_3'UTR	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	96					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTAGTTATTGGGCCAGTTCA	0.398			T	RET	papillary thyroid																																p.L112F		.		Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	.	.	0			c.G336T						.						134.0	130.0	131.0					10																	51580885		2203	4300	6503	SO:0001583	missense	8031	exon5			GTTATTGGGCCAG	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.288G>T	10.37:g.51580885G>T	ENSP00000390713:p.Leu96Phe	Somatic	69	0		WXS	Illumina HiSeq	.	77	4	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384302	0.61845	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.51	5.51	0.81932	.	0.275088	0.32120	N	0.006554	T	0.46464	0.1394	L	0.41236	1.265	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.967	P;D;P	0.63877	0.885;0.919;0.771	T	0.34403	-0.9830	10	0.56958	D	0.05	-2.9921	17.6674	0.88207	0.0:0.0:1.0:0.0	.	112;112;96	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	F	112;112;96;96;96;96;96	ENSP00000405146:L112F;ENSP00000395465:L112F;ENSP00000363200:L96F;ENSP00000344552:L96F;ENSP00000363195:L96F;ENSP00000390713:L96F	ENSP00000332421:L96F	L	+	3	2	NCOA4	51250891	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.549000	0.53681	2.608000	0.88229	0.461000	0.40582	TTG	.		0.398	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437	
VANGL1	81839	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	116206776	116206776	+	Silent	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:116206776C>A	ENST00000355485.2	+	4	970	c.699C>A	c.(697-699)atC>atA	p.I233I	VANGL1_ENST00000310260.3_Silent_p.I233I|VANGL1_ENST00000369510.4_Silent_p.I231I|VANGL1_ENST00000369509.1_Silent_p.I233I	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	233					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCTCTTCATCCATTACCTGG	0.577																																					p.I233I		.											.	.	.	0			c.C699A						.						106.0	105.0	105.0					1																	116206776		2203	4300	6503	SO:0001819	synonymous_variant	81839	exon4			CTTCATCCATTAC	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.699C>A	1.37:g.116206776C>A		Somatic	29	0		WXS	Illumina HiSeq	.	31	9	NM_138959	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	CCDS883.1																																																																																			.		0.577	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
PPARD	5467	hgsc.bcm.edu	37	6	35392430	35392430	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:35392430C>A	ENST00000311565.4	+	8	1301	c.952C>A	c.(952-954)Cgc>Agc	p.R318S	PPARD_ENST00000540939.1_Missense_Mutation_p.R215S|PPARD_ENST00000444397.1_Missense_Mutation_p.R318S|PPARD_ENST00000337400.2_Missense_Mutation_p.R318S|PPARD_ENST00000360694.3_Missense_Mutation_p.R318S|PPARD_ENST00000418635.2_Missense_Mutation_p.R220S|PPARD_ENST00000448077.2_Missense_Mutation_p.R279S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	318	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGAGTTCCTGCGCAGCCTCCG	0.547																																					p.R318S		.											PPARD,caecum,carcinoma,0,1	PPARD	0	0			c.C952A						.						65.0	59.0	61.0					6																	35392430		2203	4300	6503	SO:0001583	missense	5467	exon8			TTCCTGCGCAGCC	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.952C>A	6.37:g.35392430C>A	ENSP00000310928:p.Arg318Ser	Somatic	27	0		WXS	Illumina HiSeq	.	18	2	NM_001171818	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224492	0.79576	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.047832	0.85682	D	0.000000	D	0.97328	0.9126	L	0.52759	1.655	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.994	D;D;D;P	0.91635	0.971;0.999;0.999;0.884	D	0.97660	1.0160	10	0.66056	D	0.02	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	220;279;318;318	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	S	279;318;220;318;318;318;215	ENSP00000414372:R279S;ENSP00000353916:R318S;ENSP00000413314:R220S;ENSP00000410837:R318S;ENSP00000310928:R318S;ENSP00000337063:R318S;ENSP00000443759:R215S	ENSP00000310928:R318S	R	+	1	0	PPARD	35500408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.790000	0.55461	2.711000	0.92665	0.655000	0.94253	CGC	.		0.547	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	
EIF4ENIF1	56478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	31854517	31854517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr22:31854517C>A	ENST00000397525.1	-	7	1130	c.907G>T	c.(907-909)Gga>Tga	p.G303*	EIF4ENIF1_ENST00000382180.2_5'Flank|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Nonsense_Mutation_p.G140*|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.G303*|EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.G303*	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	303						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAAAGTCTCCTGGGGACTGC	0.493																																					p.G303X		.											.	.	.	0			c.G907T						.						85.0	75.0	78.0					22																	31854517		2203	4300	6503	SO:0001587	stop_gained	56478	exon7			AGTCTCCTGGGGA	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.907G>T	22.37:g.31854517C>A	ENSP00000380659:p.Gly303*	Somatic	119	0		WXS	Illumina HiSeq	.	112	13	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Nonsense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	38	6.640339	0.97726	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.74	5.74	0.90152	.	0.051336	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-16.3918	18.906	0.92462	0.0:1.0:0.0:0.0	.	.	.	.	X	140;303;303;303;303	.	ENSP00000328103:G303X	G	-	1	0	EIF4ENIF1	30184517	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.434000	0.66526	2.723000	0.93209	0.655000	0.94253	GGA	.		0.493	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
PSD	5662	hgsc.bcm.edu	37	10	104173619	104173619	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:104173619G>A	ENST00000020673.5	-	5	1986	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.A487V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	487	Poly-Glu.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.A272V(1)|p.A487V(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCTGGCCTCTGCCTCCTCCTC	0.652																																					p.A487V		.											PSD_ENST00000020673,NS,carcinoma,0,2	PSD_ENST00000020673	0	2	Substitution - Missense(2)	ovary(2)	c.C1460T						.						29.0	33.0	32.0					10																	104173619		2203	4300	6503	SO:0001583	missense	5662	exon6			GCCTCTGCCTCCT	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1460C>T	10.37:g.104173619G>A	ENSP00000020673:p.Ala487Val	Somatic	30	0		WXS	Illumina HiSeq	.	31	2	NM_001270965	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679983	0.29783	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.18174	2.23;2.23	4.65	1.9	0.25705	.	0.725124	0.11916	N	0.517188	T	0.06142	0.0159	N	0.03608	-0.345	0.20563	N	0.999888	B	0.13594	0.008	B	0.12156	0.007	T	0.26121	-1.0112	10	0.39692	T	0.17	.	2.2854	0.04124	0.1591:0.1315:0.472:0.2374	.	487	A5PKW4	PSD1_HUMAN	V	487;390;487	ENSP00000020673:A487V;ENSP00000384830:A487V	ENSP00000020673:A487V	A	-	2	0	PSD	104163609	0.789000	0.28775	0.962000	0.40283	0.974000	0.67602	0.874000	0.28065	2.154000	0.67381	0.456000	0.33151	GCA	.		0.652	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2		
TRPC7	57113	hgsc.bcm.edu	37	5	135561813	135561813	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:135561813C>A	ENST00000513104.1	-	9	2453	c.2171G>T	c.(2170-2172)aGa>aTa	p.R724I	TRPC7_ENST00000426057.2_Missense_Mutation_p.R608I|TRPC7_ENST00000355180.3_Missense_Mutation_p.R663I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	724					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCTTGATTCTCATTATGAG	0.388																																					p.R724I		.											TRPC7,NS,carcinoma,0,2	TRPC7	0	0			c.G2171T						.						73.0	67.0	69.0					5																	135561813		1868	4096	5964	SO:0001583	missense	57113	exon9			TTGATTCTCATTA	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2171G>T	5.37:g.135561813C>A	ENSP00000426070:p.Arg724Ile	Somatic	33	0		WXS	Illumina HiSeq	.	47	2	NM_020389	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007076|2.007076	0.35415|0.35415	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|D;D;D	.|0.82255	.|-1.59;-1.59;-1.59	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80849|0.80849	0.4702|0.4702	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B;B	.|0.22541	.|0.071;0.061;0.01;0.006	.|B;B;B;B	.|0.26864	.|0.065;0.074;0.035;0.025	T|T	0.74962|0.74962	-0.3485|-0.3485	5|10	.|0.22706	.|T	.|0.39	-14.9511|-14.9511	11.8714|11.8714	0.52523|0.52523	0.0:0.9207:0.0:0.0793|0.0:0.9207:0.0:0.0793	.|.	.|608;663;669;724	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	D|I	607;662;668|663;608;724;724	.|ENSP00000347312:R663I;ENSP00000441628:R608I;ENSP00000426070:R724I	.|ENSP00000265193:R724I	E|R	-|-	3|2	2|0	TRPC7|TRPC7	135589712|135589712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.189000|3.189000	0.50965|0.50965	2.590000|2.590000	0.87494|0.87494	0.591000|0.591000	0.81541|0.81541	GAG|AGA	.		0.388	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
DCP1B	196513	hgsc.bcm.edu	37	12	2062323	2062323	+	Silent	SNP	T	T	C	rs149912567|rs71057810|rs111543431|rs373461041		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:2062323T>C	ENST00000280665.6	-	7	862	c.783A>G	c.(781-783)caA>caG	p.Q261Q	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Silent_p.Q135Q|DCP1B_ENST00000397173.4_Silent_p.Q159Q	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	261	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q261_E262insQ(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGCTTCTCTtgctgctgct	0.557																																					p.Q261Q		.											.,4	.	63	2	Insertion - In frame(2)	breast(1)|kidney(1)	c.A783G						.						38.0	43.0	42.0					12																	2062323		2203	4300	6503	SO:0001819	synonymous_variant	196513	exon7			CTTCTCTTGCTGC	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.783A>G	12.37:g.2062323T>C		Somatic	27	1		WXS	Illumina HiSeq	.	27	2	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																			.		0.557	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
RAB3GAP2	25782	broad.mit.edu	37	1	220379290	220379290	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:220379290A>G	ENST00000358951.2	-	8	787	c.671T>C	c.(670-672)cTt>cCt	p.L224P		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	224					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGATTGAAAAAGGCTAAATCC	0.289																																					p.L224P													.	RAB3GAP2	120	0			c.T671C						.						60.0	59.0	59.0					1																	220379290		2203	4299	6502	SO:0001583	missense	25782	exon8			TGAAAAAGGCTAA	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.671T>C	1.37:g.220379290A>G	ENSP00000351832:p.Leu224Pro	Somatic	77	0		WXS	Illumina GAIIx	Phase_I	93	4	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496793	0.85069	.	.	ENSG00000118873	ENST00000358951	T	0.60040	0.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75172	-0.3411	10	0.87932	D	0	.	15.7371	0.77853	1.0:0.0:0.0:0.0	.	224	Q9H2M9	RBGPR_HUMAN	P	224	ENSP00000351832:L224P	ENSP00000351832:L224P	L	-	2	0	RAB3GAP2	218445913	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.251000	0.89838	2.177000	0.69029	0.460000	0.39030	CTT	.		0.289	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
OBSCN	84033	broad.mit.edu	37	1	228433225	228433225	+	Missense_Mutation	SNP	C	C	T	rs545938369		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:228433225C>T	ENST00000422127.1	+	12	3637	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M	OBSCN_ENST00000570156.2_Missense_Mutation_p.T1290M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1198M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1198	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACAGAGGTGACGTGGTACAAG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17665	0.001		0.0	False		,,,				2504	0.0				p.T1290M													.	OBSCN	2142	0			c.C3869T						.						91.0	89.0	90.0					1																	228433225		2081	4203	6284	SO:0001583	missense	84033	exon13			AGGTGACGTGGTA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3593C>T	1.37:g.228433225C>T	ENSP00000409493:p.Thr1198Met	Somatic	75	0		WXS	Illumina GAIIx	Phase_I	47	3	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.709	0.499436	0.12762	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68765	-0.35;-0.35	4.38	-1.36	0.09085	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.383922	0.25484	N	0.030341	T	0.72803	0.3506	M	0.72118	2.19	0.58432	D	0.999991	D;P	0.89917	1.0;0.937	D;P	0.76071	0.987;0.49	T	0.68164	-0.5481	10	0.49607	T	0.09	.	4.1871	0.10404	0.2807:0.3531:0.0:0.3662	.	1198;1198	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1198	ENSP00000284548:T1198M;ENSP00000409493:T1198M	ENSP00000284548:T1198M	T	+	2	0	OBSCN	226499848	0.774000	0.28592	0.021000	0.16686	0.012000	0.07955	1.648000	0.37271	-0.231000	0.09825	-0.667000	0.03836	ACG	.		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																					.													.	.	.	0			.						.																																					0	.			AAATGTAAAAAAA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	6	1	.		RNA	DEL	ENST00000511537.1	37																																																																																				.		0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868	
TPTE2P6	374491	broad.mit.edu	37	13	25155131	25155131	+	RNA	SNP	G	G	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:25155131G>C	ENST00000453498.1	+	0	411																											aatgtcctccgcaagatctgg	0.473																																					.													.	.	.	0			.						.																																					0	.			TCCTCCGCAAGAT																													13.37:g.25155131G>C		Somatic	14	0		WXS	Illumina GAIIx	Phase_I	6	2	.		RNA	SNP	ENST00000453498.1	37																																																																																				.		0.473	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1		
TPTE2P6	374491	broad.mit.edu	37	13	25160768	25160768	+	RNA	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr13:25160768T>C	ENST00000453498.1	+	0	723				TPTE2P6_ENST00000440905.1_RNA																							TTCAATACCTTGAAGAAAGAT	0.498																																					.													.	.	.	0			.						.																																					0	.			ATACCTTGAAGAA																													13.37:g.25160768T>C		Somatic	18	0		WXS	Illumina GAIIx	Phase_I	9	5	.		RNA	SNP	ENST00000453498.1	37																																																																																				.		0.498	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1		
RP11-597A11.1	0	broad.mit.edu	37	14	20098927	20098927	+	RNA	DEL	A	A	-	rs373530853|rs548019635		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr14:20098927delA	ENST00000548261.1	+	0	245																											ATCTTGGGAGAAAAAAATAAC	0.313																																					.													.	.	.	0			.						.																																					0	.			TGGGAGAAAAAAA																													14.37:g.20098927delA		Somatic	86	5		WXS	Illumina GAIIx	Phase_I	79	3	.		RNA	DEL	ENST00000548261.1	37																																																																																				.		0.313	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1		
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																					.													.	.	.	0			.						.																																					0	.			CTTGTCAGGGGGA																													16.37:g.74372644A>G		Somatic	92	1		WXS	Illumina GAIIx	Phase_I	72	3	.		RNA	SNP	ENST00000429810.2	37																																																																																				.		0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1		
GPR179	440435	broad.mit.edu	37	17	36491145	36491145	+	Silent	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:36491145C>T	ENST00000342292.4	-	7	1436	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	472					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACAGAAACAGCTGCAGCACTC	0.652																																					p.Q472Q													.	GPR179	170	0			c.G1416A						.						4.0	6.0	6.0					17																	36491145		1995	4015	6010	SO:0001819	synonymous_variant	440435	exon7			AAACAGCTGCAGC		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1416G>A	17.37:g.36491145C>T		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	5	2	NM_001004334		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																			.		0.652	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
PLEKHH3	79990	broad.mit.edu	37	17	40823370	40823370	+	Splice_Site	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr17:40823370T>C	ENST00000591022.1	-	8	1670	c.1283A>G	c.(1282-1284)gAg>gGg	p.E428G	PLEKHH3_ENST00000293349.6_Splice_Site_p.E428G|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Splice_Site_p.E428G	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	428	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGCCTCACCTCCCCCGCCGT	0.642																																					p.E428G													.	PLEKHH3	49	0			c.A1283G						.						25.0	20.0	21.0					17																	40823370		2187	4266	6453	SO:0001630	splice_region_variant	79990	exon8			CTCACCTCCCCCG	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1284+1A>G	17.37:g.40823370T>C		Somatic	88	12		WXS	Illumina GAIIx	Phase_I	81	13	NM_024927	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Splice_Site	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050924	0.93740	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	T;T	0.78364	-1.17;-1.17	4.99	4.99	0.66335	Band 4.1 domain (1);FERM domain (1);Ras-association (1);	0.000000	0.47093	D	0.000242	D	0.86838	0.6029	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88480	0.3068	10	0.87932	D	0	-18.4892	14.3907	0.66975	0.0:0.0:0.0:1.0	.	428;428	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	G	90;428;428	ENSP00000293349:E428G;ENSP00000411885:E428G	ENSP00000293349:E428G	E	-	2	0	PLEKHH3	38076896	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	6.156000	0.71840	1.895000	0.54865	0.459000	0.35465	GAG	.		0.642	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927	Missense_Mutation
MOCOS	55034	broad.mit.edu	37	18	33767560	33767560	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:33767560G>A	ENST00000261326.5	+	1	79	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RP11-49I11.1_ENST00000568654.1_RNA	NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGTTCCCGGGACCCGAGCGC	0.781																																					p.D20N													.	MOCOS	84	0			c.G58A						.						3.0	5.0	4.0					18																	33767560		1773	3550	5323	SO:0001583	missense	55034	exon1			TCCCGGGACCCGA	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.58G>A	18.37:g.33767560G>A	ENSP00000261326:p.Asp20Asn	Somatic	31	0		WXS	Illumina GAIIx	Phase_I	31	8	NM_017947		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253167	0.59212	.	.	ENSG00000075643	ENST00000261326	T	0.16073	2.37	4.1	4.1	0.47936	.	0.816112	0.10986	N	0.612193	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.30482	0.281	B	0.24848	0.056	T	0.15492	-1.0435	10	0.30854	T	0.27	-9.0465	12.1061	0.53813	0.0:0.0:1.0:0.0	.	20	Q96EN8	MOCOS_HUMAN	N	20	ENSP00000261326:D20N	ENSP00000261326:D20N	D	+	1	0	MOCOS	32021558	0.090000	0.21635	0.006000	0.13384	0.009000	0.06853	3.962000	0.56766	2.559000	0.86315	0.491000	0.48974	GAC	.		0.781	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
CEACAM20	125931	broad.mit.edu	37	19	45017502	45017503	+	RNA	DEL	GC	GC	-	rs10669399|rs372255103|rs530891415|rs74817639|rs398034749|rs75328443		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:45017502_45017503delGC	ENST00000454753.1	-	0	1588							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ttttggttttgctttttttttt	0.46																																					.													.	CEACAM20	31	0			.						.																																					125931	.			GGTTTTGCTTTTT	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017502_45017503delGC		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	7	3	.		RNA	DEL	ENST00000454753.1	37																																																																																				.		0.460	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
TUBA3D	113457	broad.mit.edu	37	2	132236997	132236997	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:132236997G>T	ENST00000321253.6	+	3	450	c.343G>T	c.(343-345)Gtt>Ttt	p.V115F	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	115					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CAAGGAGATTGTTGACCTAGT	0.527																																					p.V115F	Ovarian(137;2059 2432 35543 39401)												.	TUBA3D	60	0			c.G343T						.						166.0	149.0	155.0					2																	132236997		2203	4300	6503	SO:0001583	missense	113457	exon3			GAGATTGTTGACC	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.343G>T	2.37:g.132236997G>T	ENSP00000326042:p.Val115Phe	Somatic	80	0		WXS	Illumina GAIIx	Phase_I	59	3	NM_080386	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	5.825	0.336532	0.11013	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.68765	-0.35	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.41294	U	0.000915	T	0.57388	0.2050	L	0.56769	1.78	0.41849	D	0.990168	B	0.09022	0.002	B	0.20577	0.03	T	0.59989	-0.7350	10	0.87932	D	0	.	4.9298	0.13912	0.1848:0.0:0.8152:0.0	.	115	Q13748	TBA3C_HUMAN	F	115	ENSP00000326042:V115F	ENSP00000326042:V115F	V	+	1	0	TUBA3D	131953467	1.000000	0.71417	0.998000	0.56505	0.745000	0.42441	3.304000	0.51866	1.243000	0.43853	0.194000	0.17425	GTT	.		0.527	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	
PLCG1	5335	broad.mit.edu	37	20	39793975	39793975	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr20:39793975G>A	ENST00000373271.1	+	14	1882	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	PLCG1_ENST00000373272.2_Missense_Mutation_p.G493S|PLCG1_ENST00000244007.3_Missense_Mutation_p.G493S	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	493	PH 2; first part. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TATCAAGAATGGCATCCTCTA	0.582																																					p.G493S													.	PLCG1	111	0			c.G1477A						.						106.0	96.0	99.0					20																	39793975		2203	4300	6503	SO:0001583	missense	5335	exon14			AAGAATGGCATCC	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1477G>A	20.37:g.39793975G>A	ENSP00000362368:p.Gly493Ser	Somatic	18	0		WXS	Illumina GAIIx	Phase_I	29	3	NM_182811	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589837	0.96590	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.75260	-0.92;-0.92;-0.92	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.79011	2.435	0.80722	D	1	D;D;D	0.63880	0.993;0.987;0.987	P;P;P	0.58873	0.84;0.847;0.696	D	0.86697	0.1927	10	0.72032	D	0.01	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	493;493;493	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	S	493	ENSP00000244007:G493S;ENSP00000362368:G493S;ENSP00000362369:G493S	ENSP00000244007:G493S	G	+	1	0	PLCG1	39227389	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.016000	0.93645	2.672000	0.90937	0.655000	0.94253	GGC	.		0.582	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
BAGE2	85319	broad.mit.edu	37	21	11096543	11096544	+	RNA	DEL	AG	AG	-	rs398061588|rs55694987|rs199734149	byFrequency	TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr21:11096543_11096544delAG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tttttgagacagagtctccctc	0.495														2153	0.429912	0.4402	0.3977	5008	,	,		81205	0.4048		0.4483	False		,,,				2504	0.4458				.													.	.	.	0			.						.																																					85319	.			TGAGACAGAGTCT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11096545_11096546delAG		Somatic	7	0		WXS	Illumina GAIIx	Phase_I	6	3	.	A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																				.		0.495	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482	
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A	rs371252868		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692																																					p.S322S													KRTAP10-6,NS,carcinoma,0,4	KRTAP10-6	57	5	Substitution - coding silent(5)	endometrium(3)|urinary_tract(1)|prostate(1)	c.C966T						.						66.0	81.0	76.0					21																	46011400		2201	4300	6501	SO:0001819	synonymous_variant	386674	exon1			ACCACAGGAGGGG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.966C>T	21.37:g.46011400G>A		Somatic	43	0		WXS	Illumina GAIIx	Phase_I	38	3	NM_198688		Silent	SNP	ENST00000400368.1	37	CCDS42959.1																																																																																			.		0.692	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
BCHE	590	broad.mit.edu;bcgsc.ca	37	3	165547680	165547680	+	Frame_Shift_Del	DEL	C	C	-	rs373114728		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:165547680delC	ENST00000264381.3	-	2	1308	c.1142delG	c.(1141-1143)ggtfs	p.G381fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	381					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TATTTTTAAACCTTCCTGAAA	0.368																																					p.G381fs													.	BCHE	136	0			c.1142delG						.						32.0	35.0	34.0					3																	165547680		2200	4297	6497	SO:0001589	frameshift_variant	590	exon2			TTTAAACCTTCCT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1142delG	3.37:g.165547680delC	ENSP00000264381:p.Gly381fs	Somatic	89	0		WXS	Illumina GAIIx	Phase_I	50	7	NM_000055	A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	CCDS3198.1																																																																																			.		0.368	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
EGFEM1P	93556	broad.mit.edu	37	3	168546588	168546590	+	RNA	DEL	AAA	AAA	-	rs35068611|rs11296821	byFrequency	TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:168546588_168546590delAAA	ENST00000483846.1	+	0	805					NR_021485.2		Q0D2K5	EGFEM_HUMAN	EGF-like and EMI domain containing 1, pseudogene																		CACTTTTGTTaaaaaaaaaaaaa	0.355																																					.													.	.	.	0			.						.																																					0	.			TTTGTTAAAAAAA	AF086185		3q26.2	2010-09-24	2010-09-24	2010-09-24	ENSG00000206120	ENSG00000206120			25149	pseudogene	pseudogene			"""chromosome 3 open reading frame 50"", ""non-protein coding RNA 259"""	C3orf50, NCRNA00259		12477932	Standard	NR_021485		Approved		uc003ffh.4	Q0D2K5	OTTHUMG00000154721		3.37:g.168546597_168546599delAAA		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	7	2	.		RNA	DEL	ENST00000483846.1	37																																																																																				A|1.000;|0.000		0.355	EGFEM1P-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351389.1	NR_021485	
C6orf132	647024	broad.mit.edu	37	6	42074970	42074970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr6:42074970delG	ENST00000341865.4	-	4	679	c.680delC	c.(679-681)ccafs	p.P230fs		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	230										breast(1)	1						AGGAGGCGGTGGGGGGGCTAG	0.627																																					p.P227fs													.	C6orf132	48	0			c.680delC						.						2.0	2.0	2.0					6																	42074970		557	1265	1822	SO:0001589	frameshift_variant	647024	exon4			GGCGGTGGGGGGG		CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.680delC	6.37:g.42074970delG	ENSP00000341368:p.Pro230fs	Somatic	6	0		WXS	Illumina GAIIx	Phase_I	6	2	NM_001164446	A6NI05	Frame_Shift_Del	DEL	ENST00000341865.4	37	CCDS47428.1																																																																																			.		0.627	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040548.2	NM_001164446	
TCEAL2	140597	broad.mit.edu	37	X	101382096	101382096	+	Silent	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:101382096A>G	ENST00000372780.1	+	3	513	c.294A>G	c.(292-294)ggA>ggG	p.G98G	TCEAL2_ENST00000329035.2_Silent_p.G98G	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						agagagggggaagggcagagg	0.552																																					p.G98G													.	TCEAL2	27	0			c.A294G						.						56.0	67.0	63.0					X																	101382096		2201	4298	6499	SO:0001819	synonymous_variant	140597	exon3			AGGGGGAAGGGCA	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.294A>G	X.37:g.101382096A>G		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	50	3	NM_080390	B2R5C7	Silent	SNP	ENST00000372780.1	37	CCDS14496.1																																																																																			.		0.552	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390	
FRMPD3	84443	broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	106844361	106844361	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chrX:106844361C>T	ENST00000276185.4	+	16	3191	c.3191C>T	c.(3190-3192)tCt>tTt	p.S1064F				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1064						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCAGAGGTCTCTTCCAGCCCC	0.527																																					.													.	.	.	0			.						.						26.0	26.0	26.0					X																	106844361		876	1990	2866	SO:0001583	missense	84443	.			AGGTCTCTTCCAG	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3191C>T	X.37:g.106844361C>T	ENSP00000276185:p.Ser1064Phe	Somatic	66	0		WXS	Illumina GAIIx	Phase_I	45	19	.	Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37		.	.	.	.	.	.	.	.	.	.	C	13.20	2.167582	0.38315	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.24908	1.83;1.88	4.12	4.12	0.48240	.	0.976842	0.08377	N	0.955207	T	0.24353	0.0590	N	0.19112	0.55	0.22552	N	0.998996	.	.	.	.	.	.	T	0.30592	-0.9973	8	0.46703	T	0.11	.	12.7311	0.57199	0.0:1.0:0.0:0.0	.	.	.	.	F	1064;1012	ENSP00000276185:S1064F;ENSP00000398668:S1012F	ENSP00000276185:S1064F	S	+	2	0	FRMPD3	106731017	0.918000	0.31147	0.276000	0.24689	0.531000	0.34715	2.734000	0.47368	1.879000	0.54435	0.436000	0.28706	TCT	.		0.527	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978	
PKLR	5313	ucsc.edu	37	1	155261558	155261558	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:155261558C>T	ENST00000342741.4	-	10	1645	c.1607G>A	c.(1606-1608)gGc>gAc	p.G536D	PKLR_ENST00000392414.3_Missense_Mutation_p.G505D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	536					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ACTTTCAATGCCAAATTGCAC	0.562																																					p.G536D													.	PKLR	70	0			c.G1607A						.						83.0	84.0	84.0					1																	155261558		2203	4300	6503	SO:0001583	missense	5313	exon10			TCAATGCCAAATT	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1607G>A	1.37:g.155261558C>T	ENSP00000339933:p.Gly536Asp	Somatic	16	0		WXS	Illumina HiSeq		31	4	NM_000298	O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.162003	0.78226	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99051	-5.37;-5.37	4.85	4.85	0.62838	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.055968	0.64402	D	0.000001	D	0.99299	0.9755	M	0.90082	3.085	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.63192	0.912;0.912	D	0.99010	1.0814	10	0.87932	D	0	-31.4973	15.8449	0.78879	0.0:1.0:0.0:0.0	.	536;527	P30613;B1AVT1	KPYR_HUMAN;.	D	561;505;536;450	ENSP00000376214:G505D;ENSP00000339933:G536D	ENSP00000271946:G450D	G	-	2	0	PKLR	153528182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.979000	0.63806	2.673000	0.90976	0.558000	0.71614	GGC	.		0.562	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	
ARHGAP25	9938	ucsc.edu;bcgsc.ca	37	2	69046554	69046554	+	Intron	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr2:69046554G>T	ENST00000295381.3	+	9	1616				ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.D428Y|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000479844.1_Intron|ARHGAP25_ENST00000409220.1_Intron|ARHGAP25_ENST00000409030.3_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGTTTTAGGTGATGCAGTGGC	0.517																																					.													.	ARHGAP25	175	0			.						.																																			SO:0001627	intron_variant	9938	.			TTAGGTGATGCAG	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1197+103G>T	2.37:g.69046554G>T		Somatic	37	0		WXS	Illumina HiSeq		43	4	.	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37		.	.	.	.	.	.	.	.	.	.	g	9.269	1.045287	0.19748	.	.	ENSG00000163219	ENST00000497079	T	0.16743	2.32	4.21	1.32	0.21799	.	.	.	.	.	T	0.14098	0.0341	.	.	.	0.09310	N	1	P	0.47191	0.891	P	0.44359	0.447	T	0.14282	-1.0478	7	.	.	.	.	4.406	0.11409	0.1588:0.0:0.653:0.1882	.	428	P42331-2	.	Y	428	ENSP00000417139:D428Y	.	D	+	1	0	ARHGAP25	68900058	0.003000	0.15002	0.000000	0.03702	0.098000	0.18820	0.840000	0.27600	0.280000	0.22209	0.558000	0.71614	GAT	.		0.517	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
AFF4	27125	ucsc.edu	37	5	132219204	132219204	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr5:132219204G>A	ENST00000265343.5	-	20	3571	c.3192C>T	c.(3190-3192)ggC>ggT	p.G1064G		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1064					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTGAATTGCCTGGTGACA	0.463																																					p.G1064G	Ovarian(126;889 1733 2942 10745 11605)												.	AFF4	120	0			c.C3192T						.						79.0	80.0	80.0					5																	132219204		2203	4300	6503	SO:0001819	synonymous_variant	27125	exon20			TGAATTGCCTGGT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3192C>T	5.37:g.132219204G>A		Somatic	27	0		WXS	Illumina HiSeq		36	4	NM_014423	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																			.		0.463	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
PKN3	29941	ucsc.edu;bcgsc.ca	37	9	131475475	131475475	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr9:131475475C>T	ENST00000291906.4	+	7	1373	c.980C>T	c.(979-981)gCc>gTc	p.A327V		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	327					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGCGAGCTTGCCAGTGAGTAG	0.711																																					p.A327V													.	PKN3	62	0			c.C980T						.						28.0	32.0	30.0					9																	131475475		2203	4300	6503	SO:0001583	missense	29941	exon7			AGCTTGCCAGTGA	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.980C>T	9.37:g.131475475C>T	ENSP00000291906:p.Ala327Val	Somatic	40	0		WXS	Illumina HiSeq		24	4	NM_013355	Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614720	0.28712	.	.	ENSG00000160447	ENST00000291906	T	0.20463	2.07	5.24	3.37	0.38596	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.16385	0.0394	L	0.47716	1.5	0.40342	D	0.979046	B	0.32573	0.376	B	0.26770	0.073	T	0.04840	-1.0923	9	0.56958	D	0.05	.	7.3602	0.26742	0.0:0.7399:0.1684:0.0916	.	327	Q6P5Z2	PKN3_HUMAN	V	327	ENSP00000291906:A327V	ENSP00000291906:A327V	A	+	2	0	PKN3	130515296	0.690000	0.27699	0.984000	0.44739	0.243000	0.25628	2.496000	0.45346	0.570000	0.29347	-0.448000	0.05591	GCC	.		0.711	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
MAML2	84441	ucsc.edu	37	11	95825407	95825407	+	Silent	SNP	C	C	T	rs61901862		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:95825407C>T	ENST00000524717.1	-	2	3072	c.1788G>A	c.(1786-1788)caG>caA	p.Q596Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	596					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q596Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgctgctgctgctgctgtt	0.532			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.Q596Q				Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	MAML2,rectum,carcinoma,0,2	MAML2	94	1	Substitution - coding silent(1)	kidney(1)	c.G1788A						.						28.0	35.0	33.0					11																	95825407		2119	4148	6267	SO:0001819	synonymous_variant	84441	exon2			CTGCTGCTGCTGC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1788G>A	11.37:g.95825407C>T		Somatic	34	0		WXS	Illumina HiSeq		39	5	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																			C|0.250;T|0.750		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
APLP2	334	ucsc.edu;bcgsc.ca	37	11	129992294	129992294	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr11:129992294G>T	ENST00000263574.5	+	6	880	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	APLP2_ENST00000338167.5_Missense_Mutation_p.D270Y|APLP2_ENST00000345598.5_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.D280Y|APLP2_ENST00000539648.1_Missense_Mutation_p.D114Y|APLP2_ENST00000528499.1_Missense_Mutation_p.D270Y|APLP2_ENST00000543137.1_Missense_Mutation_p.D177Y	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	270	Asp/Glu-rich (highly acidic).				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		agtggtggaggaCCGAGATTA	0.483																																					p.D280Y													.	APLP2	71	0			c.G838T						.						208.0	181.0	190.0					11																	129992294		2201	4297	6498	SO:0001583	missense	334	exon6			GTGGAGGACCGAG	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.808G>T	11.37:g.129992294G>T	ENSP00000263574:p.Asp270Tyr	Somatic	48	0		WXS	Illumina HiSeq		40	4	NM_001243299	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296106	0.81025	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D	0.94723	-3.5;-3.4;-1.89;-2.03;-2.04;-2.02	5.49	5.49	0.81192	.	0.186785	0.43579	D	0.000557	D	0.95046	0.8396	L	0.29908	0.895	0.42665	D	0.993497	D;D;D;P;D;D	0.76494	0.999;0.999;0.999;0.95;0.999;0.999	D;P;D;B;D;D	0.66351	0.943;0.873;0.943;0.429;0.943;0.912	D	0.95495	0.8572	10	0.54805	T	0.06	-20.2311	17.9692	0.89108	0.0:0.0:1.0:0.0	.	114;270;270;264;270;270	F5H845;Q06481;Q06481-2;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.	Y	270;114;270;270;280;177	ENSP00000435914:D270Y;ENSP00000443728:D114Y;ENSP00000263574:D270Y;ENSP00000345444:D270Y;ENSP00000278756:D280Y;ENSP00000444122:D177Y	ENSP00000263574:D270Y	D	+	1	0	APLP2	129497504	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	6.767000	0.74975	2.575000	0.86900	0.462000	0.41574	GAC	.		0.483	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
AMFR	267	ucsc.edu;bcgsc.ca	37	16	56442015	56442015	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:56442015G>T	ENST00000290649.5	-	4	737	c.527C>A	c.(526-528)cCc>cAc	p.P176H	RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	176					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGGCGTGGTGGGCGAGAAGGA	0.527																																					p.P176H	Pancreas(2;144 323 39528)												.	AMFR	40	0			c.C527A						.						78.0	67.0	71.0					16																	56442015		2198	4300	6498	SO:0001583	missense	267	exon4			GTGGTGGGCGAGA	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.527C>A	16.37:g.56442015G>T	ENSP00000290649:p.Pro176His	Somatic	25	0		WXS	Illumina HiSeq		28	4	NM_001144	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122345	0.94429	.	.	ENSG00000159461	ENST00000290649	T	0.43688	0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66093	-0.6009	10	0.44086	T	0.13	-28.5069	20.8794	0.99867	0.0:0.0:1.0:0.0	.	176	Q9UKV5	AMFR2_HUMAN	H	176	ENSP00000290649:P176H	ENSP00000290649:P176H	P	-	2	0	AMFR	54999516	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	CCC	.		0.527	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		
SLC39A6	25800	ucsc.edu	37	18	33702188	33702188	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr18:33702188T>C	ENST00000590986.1	-	5	1475	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V	SLC39A6_ENST00000269187.5_Missense_Mutation_p.M396V|SLC39A6_ENST00000440549.2_Missense_Mutation_p.M121V			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	396					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTCATTTCCATTGCTGGTTCT	0.393																																					p.M396V													.	SLC39A6	81	0			c.A1186G						.						185.0	173.0	177.0					18																	33702188		1911	4141	6052	SO:0001583	missense	25800	exon5			TTTCCATTGCTGG	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1186A>G	18.37:g.33702188T>C	ENSP00000465915:p.Met396Val	Somatic	14	0		WXS	Illumina HiSeq		24	4	NM_012319	B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	T	7.763	0.705710	0.15172	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.45276	0.9;0.9	5.17	-0.0785	0.13714	.	1.832600	0.02444	N	0.084846	T	0.18173	0.0436	N	0.03608	-0.345	0.09310	N	1	B;B	0.16802	0.019;0.0	B;B	0.18871	0.023;0.002	T	0.14035	-1.0487	10	0.16896	T	0.51	-1.6836	1.6321	0.02734	0.1375:0.1734:0.141:0.5482	.	396;121	Q13433;Q13433-2	S39A6_HUMAN;.	V	396;121;121	ENSP00000269187:M396V;ENSP00000401139:M121V	ENSP00000269187:M396V	M	-	1	0	SLC39A6	31956186	0.003000	0.15002	0.900000	0.35374	0.991000	0.79684	-0.053000	0.11846	0.385000	0.24970	0.533000	0.62120	ATG	.		0.393	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1		
AGL	178	bcgsc.ca	37	1	100366398	100366398	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:100366398C>T	ENST00000294724.4	+	26	4047	c.3569C>T	c.(3568-3570)cCt>cTt	p.P1190L	AGL_ENST00000361522.4_Missense_Mutation_p.P1173L|AGL_ENST00000370165.3_Missense_Mutation_p.P1190L|AGL_ENST00000361915.3_Missense_Mutation_p.P1190L|AGL_ENST00000370163.3_Missense_Mutation_p.P1190L|AGL_ENST00000370161.2_Missense_Mutation_p.P1174L|AGL_ENST00000361302.3_Missense_Mutation_p.P1174L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1190					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GATTCTGCTCCTTTGCCTGCT	0.338																																					p.P1190L													.	AGL	137	0			c.C3569T						.						151.0	144.0	146.0					1																	100366398		2203	4300	6503	SO:0001583	missense	178	exon26			CTGCTCCTTTGCC	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3569C>T	1.37:g.100366398C>T	ENSP00000294724:p.Pro1190Leu	Somatic	43	0		WXS	Illumina HiSeq	Phase_1	63	4	NM_000644	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810135	0.90707	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.61	5.61	0.85477	Six-hairpin glycosidase-like (1);	0.162027	0.56097	D	0.000027	T	0.65186	0.2667	L	0.56769	1.78	0.80722	D	1	P;P;P	0.38473	0.58;0.58;0.633	P;P;P	0.49421	0.476;0.476;0.61	T	0.65022	-0.6269	10	0.48119	T	0.1	.	19.6248	0.95674	0.0:1.0:0.0:0.0	.	1173;1174;1190	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	1190;1190;1190;1190;1174;1174;1173	ENSP00000355106:P1190L;ENSP00000359184:P1190L;ENSP00000359182:P1190L;ENSP00000294724:P1190L;ENSP00000354971:P1174L;ENSP00000359180:P1174L;ENSP00000354635:P1173L	ENSP00000294724:P1190L	P	+	2	0	AGL	100138986	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.044000	0.76578	2.629000	0.89072	0.650000	0.86243	CCT	.		0.338	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
FAM20B	9917	bcgsc.ca	37	1	179041172	179041172	+	Missense_Mutation	SNP	G	G	A	rs200757870		TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:179041172G>A	ENST00000263733.4	+	8	1459	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	375						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCTGGACGCCGTGGACCAGCG	0.552																																					p.V375M													.	FAM20B	38	0			c.G1123A						.						94.0	88.0	90.0					1																	179041172		2203	4300	6503	SO:0001583	missense	9917	exon8			GACGCCGTGGACC	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.1123G>A	1.37:g.179041172G>A	ENSP00000263733:p.Val375Met	Somatic	34	0		WXS	Illumina HiSeq	Phase_1	24	3	NM_014864	Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	2.027	-0.423308	0.04734	.	.	ENSG00000116199	ENST00000263733	T	0.77358	-1.09	5.48	-1.56	0.08532	.	0.358973	0.29328	N	0.012461	T	0.43875	0.1267	N	0.03224	-0.385	0.26554	N	0.973852	B	0.06786	0.001	B	0.06405	0.002	T	0.21586	-1.0241	10	0.20519	T	0.43	-51.8311	1.6064	0.02684	0.3414:0.3142:0.2258:0.1186	.	375	O75063	XYLK_HUMAN	M	375	ENSP00000263733:V375M	ENSP00000263733:V375M	V	+	1	0	FAM20B	177307795	0.001000	0.12720	0.137000	0.22149	0.225000	0.24961	0.017000	0.13399	0.031000	0.15407	-0.136000	0.14681	GTG	G|0.999;A|0.001		0.552	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864	
ASPM	259266	bcgsc.ca	37	1	197094085	197094085	+	Splice_Site	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr1:197094085C>A	ENST00000367409.4	-	12	3339	c.3083G>T	c.(3082-3084)gGa>gTa	p.G1028V	ASPM_ENST00000367408.1_Splice_Site_p.G278V|ASPM_ENST00000294732.7_Splice_Site_p.G1028V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1028	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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						AATTGTATTTCCTATAAAAGA	0.343																																					p.G1028V													.	ASPM	444	0			c.G3083T						.						117.0	122.0	121.0					1																	197094085		2203	4298	6501	SO:0001630	splice_region_variant	259266	exon12			GTATTTCCTATAA	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.3083-1G>T	1.37:g.197094085C>A		Somatic	59	0		WXS	Illumina HiSeq	Phase_1	63	4	NM_001206846	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	36	5.901703	0.97087	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.61627	0.09;1.36;1.22	5.55	5.55	0.83447	Calponin homology domain (4);	0.000000	0.64402	D	0.000001	T	0.72930	0.3522	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.71437	-0.4593	10	0.49607	T	0.09	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	1028;1028	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	V	1028;1028;278	ENSP00000356379:G1028V;ENSP00000294732:G1028V;ENSP00000356378:G278V	ENSP00000294732:G1028V	G	-	2	0	ASPM	195360708	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	7.043000	0.76572	2.767000	0.95098	0.563000	0.77884	GGA	.		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	Missense_Mutation
THUMPD3	25917	bcgsc.ca	37	3	9406699	9406699	+	Splice_Site	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr3:9406699G>T	ENST00000345094.3	+	2	281		c.e2-1		RP11-380O24.1_ENST00000518331.1_RNA|RP11-380O24.1_ENST00000491930.2_RNA|SETD5-AS1_ENST00000468186.1_RNA|RP11-380O24.1_ENST00000466431.2_RNA|THUMPD3_ENST00000515662.2_Splice_Site|RP11-380O24.1_ENST00000517846.1_RNA|THUMPD3_ENST00000452837.2_Splice_Site|RP11-380O24.1_ENST00000517687.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3							cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTCTTTTAAAGGACAGTACTG	0.383																																					.													.	THUMPD3	46	0			.						.																																			SO:0001630	splice_region_variant	25917	.			TTTAAAGGACAGT	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.-53-1G>T	3.37:g.9406699G>T		Somatic	32	0		WXS	Illumina HiSeq	Phase_1	23	3	.	Q9H8V6|Q9NVC1|Q9UFS3	Splice_Site	SNP	ENST00000345094.3	37	CCDS2573.1																																																																																			.		0.383	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453	Intron
GABRA2	2555	bcgsc.ca	37	4	46263983	46263983	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:46263983C>A	ENST00000510861.1	-	9	1192	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	GABRA2_ENST00000515082.1_Missense_Mutation_p.R340I|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340I|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285I|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340I|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340I|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|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(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCCATCCTCTTTTGGTGAA	0.393																																					p.R340I													.	GABRA2	134	0			c.G1019T						.						115.0	108.0	110.0					4																	46263983		2203	4300	6503	SO:0001583	missense	2555	exon9			CATCCTCTTTTGG		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1019G>T	4.37:g.46263983C>A	ENSP00000421828:p.Arg340Ile	Somatic	68	0		WXS	Illumina HiSeq	Phase_1	22	3	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216235	0.95104	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;T;D	0.86497	-2.13;-2.13;-2.13;-2.13;-1.85;-0.87;-1.85	5.44	5.44	0.79542	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	L	0.55213	1.73	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.91635	0.995;0.956;0.999	D	0.92131	0.5712	10	0.59425	D	0.04	.	18.609	0.91277	0.0:1.0:0.0:0.0	.	285;340;340	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	I	340;340;340;340;285;340;340	ENSP00000421828:R340I;ENSP00000421300:R340I;ENSP00000371033:R340I;ENSP00000348897:R340I;ENSP00000444409:R285I;ENSP00000427603:R340I;ENSP00000423840:R340I	ENSP00000348897:R340I	R	-	2	0	GABRA2	45958740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.949000	0.70257	2.723000	0.93209	0.655000	0.94253	AGA	.		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
F11	2160	bcgsc.ca	37	4	187194273	187194273	+	Silent	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr4:187194273G>T	ENST00000403665.2	+	4	619	c.267G>T	c.(265-267)gtG>gtT	p.V89V	F11_ENST00000492972.2_Silent_p.V89V|F11_ENST00000264692.4_Silent_p.V89V	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	89	Apple 1. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGCCAAGAGTGAATAGGACAG	0.338																																					p.V89V													.	F11	65	0			c.G267T						.						99.0	92.0	94.0					4																	187194273		2203	4300	6503	SO:0001819	synonymous_variant	2160	exon4			AAGAGTGAATAGG	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.267G>T	4.37:g.187194273G>T		Somatic	36	0		WXS	Illumina HiSeq	Phase_1	21	3	NM_000128	D3DP64|Q4W5C2|Q9Y495	Silent	SNP	ENST00000403665.2	37	CCDS3847.1																																																																																			.		0.338	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4		
FOXK1	221937	bcgsc.ca	37	7	4796694	4796694	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr7:4796694G>T	ENST00000328914.4	+	5	1120	c.1120G>T	c.(1120-1122)Ggg>Tgg	p.G374W	FOXK1_ENST00000446823.1_Missense_Mutation_p.G211W	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GGAGGAGCCTGGGAAGGGGTC	0.547																																					p.G374W													KIAA0415_ENST00000450194,NS,carcinoma,-2,2	FOXK1	64	0			c.G1120T						.						76.0	83.0	81.0					7																	4796694		2203	4300	6503	SO:0001583	missense	221937	exon5			GAGCCTGGGAAGG	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1120G>T	7.37:g.4796694G>T	ENSP00000328720:p.Gly374Trp	Somatic	91	0		WXS	Illumina HiSeq	Phase_1	76	4	NM_001037165		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003354	0.93287	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.98633	-5.04;-5.04	5.8	5.8	0.92144	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97905	1.0305	10	0.87932	D	0	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	374;211	P85037;P85037-2	FOXK1_HUMAN;.	W	211;138;374;257	ENSP00000394442:G211W;ENSP00000328720:G374W	ENSP00000328720:G374W	G	+	1	0	FOXK1	4763220	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.826000	0.99387	2.735000	0.93741	0.655000	0.94253	GGG	.		0.547	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2		
ACTG1P19	644160	bcgsc.ca	37	9	103493949	103493949	+	IGR	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr9:103493949G>A								MURC (143761 upstream) : LPPR1 (297041 downstream)																							GTACGCCTCTGGCCGTACCAC	0.567																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			GCCTCTGGCCGTA																													9.37:g.103493949G>A		Somatic	18	0		WXS	Illumina HiSeq	Phase_1	11	3	.		RNA	SNP		37																																																																																				.	0	0.567								
MPP7	143098	bcgsc.ca	37	10	28413008	28413008	+	Silent	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:28413008G>A	ENST00000375732.1	-	8	826	c.567C>T	c.(565-567)aaC>aaT	p.N189N	MPP7_ENST00000375719.3_Silent_p.N189N|MPP7_ENST00000540098.1_Silent_p.N189N|MPP7_ENST00000445954.2_Silent_p.N64N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000337532.5_Silent_p.N189N			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	189	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGGTATCCCGTTGACTTCCC	0.358																																					p.N189N													.	MPP7	60	0			c.C567T						.						108.0	107.0	107.0					10																	28413008		2203	4300	6503	SO:0001819	synonymous_variant	143098	exon10			TATCCCGTTGACT	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.567C>T	10.37:g.28413008G>A		Somatic	53	0		WXS	Illumina HiSeq	Phase_1	59	4	NM_173496	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	CCDS7158.1																																																																																			.		0.358	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496	
ATRNL1	26033	bcgsc.ca	37	10	116853364	116853364	+	5'Flank	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:116853364C>T	ENST00000355044.3	+	0	0				ATRNL1_ENST00000527407.1_5'UTR|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGTCCCTCCTGACCGGGGA	0.687																																					.													.	ATRNL1	219	0			.						.																																			SO:0001631	upstream_gene_variant	26033	.			TCCCTCCTGACCG	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096		10.37:g.116853364C>T	Exception_encountered	Somatic	65	0		WXS	Illumina HiSeq	Phase_1	61	4	.	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																			.		0.687	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
BEST3	144453	bcgsc.ca	37	12	70091527	70091527	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr12:70091527G>T	ENST00000330891.5	-	2	278	c.52C>A	c.(52-54)Cat>Aat	p.H18N	BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.H18N|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000553096.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	18					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGTAACCTATGAAATCCAAAA	0.348																																					p.H18N													.	BEST3	129	0			c.C52A						.						116.0	113.0	114.0					12																	70091527		1830	4090	5920	SO:0001583	missense	144453	exon2			ACCTATGAAATCC	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.52C>A	12.37:g.70091527G>T	ENSP00000332413:p.His18Asn	Somatic	72	0		WXS	Illumina HiSeq	Phase_1	58	4	NM_032735	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154318	0.38021	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98419	-4.92;-4.92;-4.92	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	L	0.36672	1.1	0.80722	D	1	D;B	0.55385	0.971;0.244	P;B	0.55871	0.786;0.038	D	0.96900	0.9659	10	0.28530	T	0.3	-17.9728	20.1535	0.98095	0.0:0.0:1.0:0.0	.	18;18	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	N	18	ENSP00000329064:H18N;ENSP00000332413:H18N;ENSP00000446575:H18N	ENSP00000332413:H18N	H	-	1	0	BEST3	68377794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.912000	0.63335	2.764000	0.94973	0.650000	0.86243	CAT	.		0.348	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439	
LINC00643	646113	bcgsc.ca	37	14	62594889	62594889	+	lincRNA	SNP	G	G	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr14:62594889G>T	ENST00000334389.4	+	0	499					NR_015358.2		Q86TS7	U730_HUMAN	long intergenic non-protein coding RNA 643																		GAGAAAGAGAGCTATGAATAC	0.393																																					.													.	.	.	0			.						.																																					646113	.			AAGAGAGCTATGA			14q23.2	2012-10-12			ENSG00000186369	ENSG00000186369		"""Long non-coding RNAs"""	44296	non-coding RNA	RNA, long non-coding							Standard	NR_015358		Approved		uc010apt.2	Q86TS7	OTTHUMG00000171566		14.37:g.62594889G>T		Somatic	62	0		WXS	Illumina HiSeq	Phase_1	47	4	.		RNA	SNP	ENST00000334389.4	37																																																																																				.		0.393	LINC00643-201	KNOWN	basic	lincRNA	lincRNA		NR_015358	
DNM1P47	100216544	bcgsc.ca	37	15	102299929	102299929	+	RNA	SNP	G	G	A			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr15:102299929G>A	ENST00000561463.1	+	0	7975									DNM1 pseudogene 47																		CGGCAGAGCAGGCAGACCAAG	0.597																																					.													.	.	.	0			.						.																																					0	.			AGAGCAGGCAGAC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299929G>A		Somatic	167	1		WXS	Illumina HiSeq	Phase_1	172	8	.		RNA	SNP	ENST00000561463.1	37																																																																																				.		0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
PPL	5493	bcgsc.ca	37	16	4938984	4938984	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr16:4938984C>T	ENST00000345988.2	-	19	2481	c.2392G>A	c.(2392-2394)Gta>Ata	p.V798I	PPL_ENST00000590782.2_Missense_Mutation_p.V796I	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	798					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTCACCTTTACAGCTTGCTGG	0.512																																					p.V798I													.	PPL	168	0			c.G2392A						.						347.0	341.0	343.0					16																	4938984		2197	4300	6497	SO:0001583	missense	5493	exon19			CCTTTACAGCTTG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2392G>A	16.37:g.4938984C>T	ENSP00000340510:p.Val798Ile	Somatic	50	0		WXS	Illumina HiSeq	Phase_1	57	4	NM_002705	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618985	0.46736	.	.	ENSG00000118898	ENST00000345988	T	0.52526	0.66	5.48	5.48	0.80851	.	0.073236	0.53938	D	0.000050	T	0.62270	0.2414	L	0.54323	1.7	0.46376	D	0.999011	D	0.64830	0.994	D	0.72625	0.978	T	0.53865	-0.8378	10	0.11485	T	0.65	.	18.3373	0.90293	0.0:1.0:0.0:0.0	.	798	O60437	PEPL_HUMAN	I	798	ENSP00000340510:V798I	ENSP00000340510:V798I	V	-	1	0	PPL	4878985	0.999000	0.42202	0.444000	0.26895	0.095000	0.18619	4.200000	0.58433	2.569000	0.86673	0.555000	0.69702	GTA	.		0.512	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
ZNF527	84503	bcgsc.ca	37	19	37879999	37879999	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr19:37879999A>G	ENST00000436120.2	+	5	1155	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAACATCAGAGGATCCACAC	0.438																																					p.R350G													.	ZNF527	78	0			c.A1048G						.						80.0	85.0	84.0					19																	37879999		2196	4297	6493	SO:0001583	missense	84503	exon5			CATCAGAGGATCC	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1048A>G	19.37:g.37879999A>G	ENSP00000390179:p.Arg350Gly	Somatic	27	0		WXS	Illumina HiSeq	Phase_1	14	3	NM_032453	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.094078	0.56075	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.97	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.246452	0.21061	N	0.080825	T	0.68851	0.3046	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.955	T	0.70004	-0.4991	9	0.72032	D	0.01	.	4.8171	0.13372	0.5307:0.365:0.1043:0.0	.	350;318	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	G	350;318;298	.	ENSP00000325231:R318G	R	+	1	2	ZNF527	42571839	0.000000	0.05858	0.997000	0.53966	0.993000	0.82548	-0.078000	0.11375	1.673000	0.50895	0.533000	0.62120	AGG	.		0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
ADARB2	105	hgsc.bcm.edu	37	10	1578004	1578005	+	Intron	DNP	TC	TC	CT			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr10:1578004_1578005TC>CT	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCCCTGAGTTCCCTTGCCCCG	0.624																																					.		.											.	.	.	0			.						.																																			SO:0001627	intron_variant	642394	.			TGAGTTCCCTTGC	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101_101delinsCT	10.37:g.1578004_1578005delinsCT		Somatic	74	0		WXS	Illumina HiSeq	.	74	5	.	B2RPJ5|Q5VUT6|Q5VW42	RNA	DNP	ENST00000381312.1	37	CCDS7058.1																																																																																			.		0.624	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
CECR2	27443	hgsc.bcm.edu	37	22	18016909	18016909	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA38-01A-11D-A417-09	TCGA-W5-AA38-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	0517c599-2c76-49f1-a280-75efe40220c4	02a37a1a-eea5-498e-994f-d32913700d81	g.chr22:18016909A>G	ENST00000400585.2	+	10	1175	c.737A>G	c.(736-738)aAg>aGg	p.K246R	CECR2_ENST00000342247.5_Missense_Mutation_p.K359R|CECR2_ENST00000400573.5_Missense_Mutation_p.K387R|CECR2_ENST00000262608.8_Missense_Mutation_p.K388R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	429					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.K387R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGGAAAAAAAGACTAAAGAC	0.473																																					.		.											CECR2,NS,carcinoma,0,1	CECR2	0	1	Substitution - Missense(1)	ovary(1)	.						.						95.0	97.0	97.0					22																	18016909		1886	4106	5992	SO:0001583	missense	27443	p.K388R			AAAAAAAGACTAA	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.737A>G	22.37:g.18016909A>G	ENSP00000383428:p.Lys246Arg	Somatic	81	0		WXS	Illumina HiSeq	Phase_I	54	3	.	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	A	6.439	0.449086	0.12223	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.33	3.16	0.36331	Bromodomain (1);	0.338021	0.25130	N	0.032905	T	0.04543	0.0124	N	0.00926	-1.1	0.28032	N	0.934099	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.06405	0.002;0.002;0.002	T	0.39583	-0.9607	10	0.10636	T	0.68	-21.2464	7.936	0.29931	0.6602:0.0:0.3398:0.0	.	429;246;387	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	R	359;246;387;388	ENSP00000341219:K359R;ENSP00000383428:K246R;ENSP00000383417:K387R;ENSP00000262608:K388R	ENSP00000262608:K388R	K	+	2	0	CECR2	16396909	0.991000	0.36638	0.776000	0.31678	0.675000	0.39556	0.421000	0.21280	0.453000	0.26858	0.482000	0.46254	AAG	.		0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
