#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA3	21	hgsc.bcm.edu	37	16	2376045	2376045	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:2376045C>G	ENST00000301732.5	-	5	985	c.285G>C	c.(283-285)gaG>gaC	p.E95D	ABCA3_ENST00000567910.1_Missense_Mutation_p.E95D|ABCA3_ENST00000382381.3_Missense_Mutation_p.E95D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	95					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGCGCACTGTCTCAGTGACGG	0.632																																																	0													63.0	62.0	62.0					16																	2376045		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.285G>C	16.37:g.2376045C>G	ENSP00000301732:p.Glu95Asp	Somatic		WXS	SOLID	Phase_I	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548826	0.65311	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90197	-2.63	5.63	2.46	0.29980	.	0.309220	0.34932	N	0.003565	D	0.87803	0.6269	L	0.58428	1.81	0.26813	N	0.968955	P;B;D;P	0.57899	0.494;0.417;0.981;0.462	P;B;P;P	0.46510	0.493;0.411;0.519;0.491	T	0.79662	-0.1710	10	0.38643	T	0.18	.	7.0601	0.25121	0.3057:0.6142:0.0:0.0801	.	95;157;95;95	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	D	95;157	ENSP00000301732:E95D	ENSP00000301732:E95D	E	-	3	2	ABCA3	2316046	0.960000	0.32886	0.011000	0.14972	0.014000	0.08584	2.107000	0.41844	0.268000	0.21939	0.655000	0.94253	GAG		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2		NM_001089	
APEH	327	hgsc.bcm.edu	37	3	49716331	49716331	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:49716331G>C	ENST00000296456.5	+	12	1507	c.1107G>C	c.(1105-1107)tgG>tgC	p.W369C	APEH_ENST00000438011.1_Missense_Mutation_p.W369C	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	369					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGGATGCTGGTCAGCTGACA	0.592																																																	0													103.0	95.0	98.0					3																	49716331		2203	4300	6503	SO:0001583	missense	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1107G>C	3.37:g.49716331G>C	ENSP00000296456:p.Trp369Cys	Somatic		WXS	SOLID	Phase_I	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683886	0.88639	.	.	ENSG00000164062	ENST00000296456;ENST00000442186;ENST00000438011	T;T;T	0.48836	0.8;1.0;0.8	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.79943	-0.1590	10	0.87932	D	0	-22.0963	19.2438	0.93893	0.0:0.0:1.0:0.0	.	369;369	C9JIF9;P13798	.;ACPH_HUMAN	C	369;294;369	ENSP00000296456:W369C;ENSP00000402365:W294C;ENSP00000415862:W369C	ENSP00000296456:W369C	W	+	3	0	APEH	49691335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.033000	0.93741	2.637000	0.89404	0.561000	0.74099	TGG		0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			
ALAS1	211	hgsc.bcm.edu	37	3	52239907	52239907	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:52239907G>C	ENST00000394965.2	+	7	1213	c.853G>C	c.(853-855)Gga>Cga	p.G285R	ALAS1_ENST00000484952.1_Missense_Mutation_p.G285R|ALAS1_ENST00000310271.2_Missense_Mutation_p.G285R|ALAS1_ENST00000469224.1_Missense_Mutation_p.G285R	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	285					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	AAATATTTCTGGAACTAGTAA	0.443																																																	0													111.0	115.0	114.0					3																	52239907		2203	4300	6503	SO:0001583	missense	211			X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.853G>C	3.37:g.52239907G>C	ENSP00000378416:p.Gly285Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000394965.2	37	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277922	0.95459	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	5.83	5.83	0.93111	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.99906	4.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97927	1.0318	10	0.87932	D	0	-17.9898	20.1005	0.97872	0.0:0.0:1.0:0.0	.	302;285	B4DVA0;P13196	.;HEM1_HUMAN	R	285	ENSP00000417719:G285R;ENSP00000378416:G285R;ENSP00000309259:G285R;ENSP00000418779:G285R	ENSP00000309259:G285R	G	+	1	0	ALAS1	52214947	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.793000	0.99091	2.758000	0.94735	0.467000	0.42956	GGA		0.443	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			
ARHGEF10	9639	hgsc.bcm.edu;ucsc.edu	37	8	1881967	1881967	+	Splice_Site	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:1881967T>G	ENST00000398564.1	+	26	3156	c.3156T>G	c.(3154-3156)gaT>gaG	p.D1052E	ARHGEF10_ENST00000520359.1_Splice_Site_p.D989E|ARHGEF10_ENST00000262112.6_Splice_Site_p.D1023E|ARHGEF10_ENST00000518288.1_Splice_Site_p.D1051E|ARHGEF10_ENST00000349830.3_Splice_Site_p.D1027E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1052					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCTTTTAAGATGGATCCTGGG	0.423																																																	0													114.0	114.0	114.0					8																	1881967		2203	4300	6503	SO:0001630	splice_region_variant	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3155-1T>G	8.37:g.1881967T>G		Somatic		WXS	SOLID	Phase_I	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	T	12.41	1.928548	0.34002	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.11	2.75	0.32379	.	0.100098	0.64402	D	0.000003	T	0.31765	0.0807	M	0.83012	2.62	0.80722	D	1	P;B	0.37061	0.58;0.04	B;B	0.33254	0.16;0.056	T	0.06162	-1.0842	10	0.33141	T	0.24	.	8.3742	0.32434	0.0:0.2279:0.0:0.7721	.	989;1027	O15013-7;O15013-5	.;.	E	1027;989;1051;1052;1023;671	ENSP00000340297:D1027E;ENSP00000427909:D989E;ENSP00000431012:D1051E;ENSP00000381571:D1052E;ENSP00000262112:D1023E;ENSP00000427768:D671E	ENSP00000262112:D1023E	D	+	3	2	ARHGEF10	1869374	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.507000	0.35758	0.374000	0.24650	0.533000	0.62120	GAT		0.423	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				Missense_Mutation
ARSD	414	hgsc.bcm.edu	37	X	2835993	2835993	+	Silent	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2835993G>A	ENST00000381154.1	-	5	790	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	239					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGAAAAACAGGCAGCCCACG	0.592													g|||	14	0.00370861	0.0061	0.0	3775	,	,		13699	0.0		0.001	False		,,,				2504	0.0051																0													31.0	34.0	33.0					X																	2835993		2203	4300	6503	SO:0001819	synonymous_variant	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.715C>T	X.37:g.2835993G>A		Somatic		WXS	SOLID	Phase_I	Q9UHJ8	Silent	SNP	ENST00000381154.1	37	CCDS35196.1																																																																																				0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			
ARSD	414	hgsc.bcm.edu	37	X	2835995	2835995	+	Missense_Mutation	SNP	C	C	A	rs150899882		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2835995C>A	ENST00000381154.1	-	5	788	c.713G>T	c.(712-714)tGc>tTc	p.C238F	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	238					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAAAACAGGCAGCCCACGCC	0.592																																																	0													30.0	33.0	32.0					X																	2835995		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.713G>T	X.37:g.2835995C>A	ENSP00000370546:p.Cys238Phe	Somatic		WXS	SOLID	Phase_I	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	0.009	-1.837745	0.00573	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93247	-3.19	3.34	0.742	0.18341	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.493620	0.18401	N	0.142380	T	0.68412	0.2998	N	0.00237	-1.79	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65911	-0.6053	10	0.02654	T	1	.	6.2103	0.20626	0.4247:0.4702:0.1051:0.0	.	238;238	E9PAW5;P51689	.;ARSD_HUMAN	F	238	ENSP00000370546:C238F	ENSP00000217890:C238F	C	-	2	0	ARSD	2845995	0.001000	0.12720	0.002000	0.10522	0.031000	0.12232	1.483000	0.35497	-0.693000	0.05121	-1.290000	0.01357	TGC		0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			
ARSD	414	hgsc.bcm.edu	37	X	2836007	2836007	+	Missense_Mutation	SNP	G	G	C	rs113556864		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2836007G>C	ENST00000381154.1	-	5	776	c.701C>G	c.(700-702)gCc>gGc	p.A234G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACGCCGGCCATGCCGGT	0.592																																																	0													23.0	26.0	25.0					X																	2836007		2203	4300	6503	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701C>G	X.37:g.2836007G>C	ENSP00000370546:p.Ala234Gly	Somatic		WXS	SOLID	Phase_I	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	g	5.944	0.358234	0.11239	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93953	-3.32	2.91	1.73	0.24493	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.954305	0.08621	U	0.918475	D	0.93151	0.7819	M	0.87971	2.92	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.24006	0.044;0.05	D	0.84722	0.0740	10	0.34782	T	0.22	.	8.3904	0.32524	0.2179:0.0:0.7821:0.0	.	234;234	E9PAW5;P51689	.;ARSD_HUMAN	G	234	ENSP00000370546:A234G	ENSP00000217890:A234G	A	-	2	0	ARSD	2846007	0.005000	0.15991	0.004000	0.12327	0.014000	0.08584	1.484000	0.35508	1.119000	0.41883	0.273000	0.19326	GCC		0.592	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			
ARSD	414	hgsc.bcm.edu	37	X	2836047	2836047	+	Missense_Mutation	SNP	C	C	T	rs67359049		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:2836047C>T	ENST00000381154.1	-	5	736	c.661G>A	c.(661-663)Ggt>Agt	p.G221S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	221					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAGAAACCGCAGGTCTGG	0.652																																																	0													17.0	22.0	20.0					X																	2836047		2202	4298	6500	SO:0001583	missense	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.661G>A	X.37:g.2836047C>T	ENSP00000370546:p.Gly221Ser	Somatic		WXS	SOLID	Phase_I	Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	CCDS35196.1	102	0.06148282097649186	36	0.0782608695652174	20	0.055865921787709494	33	0.05871886120996441	55	0.07412398921832884	c	15.90	2.969913	0.53614	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.93659	-3.26	3.47	2.6	0.31112	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000004	T	0.64349	0.2590	M	0.80847	2.515	0.09310	N	1	D;D	0.76494	0.999;0.994	D;P	0.66351	0.943;0.812	T	0.73418	-0.3989	10	0.42905	T	0.14	.	7.3482	0.26676	0.0:0.7823:0.0:0.2177	.	221;221	E9PAW5;P51689	.;ARSD_HUMAN	S	221	ENSP00000370546:G221S	ENSP00000217890:G221S	G	-	1	0	ARSD	2846047	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.249000	0.08842	0.383000	0.24910	-0.454000	0.05498	GGT		0.652	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			
BCKDHA	593	hgsc.bcm.edu	37	19	41932063	41932063	+	IGR	SNP	A	A	G	rs45563938	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr19:41932063A>G	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Silent_p.S207S|B3GNT8_ENST00000601379.1_5'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCAGCAGGTCACTGTAGCGAC	0.647													A|||	314	0.0626997	0.0257	0.0778	5008	,	,		15953	0.001		0.1272	False		,,,				2504	0.0992																0								A		167,4239	111.2+/-149.4	4,159,2040	66.0	67.0	67.0		621	-4.0	0.2	19	dbSNP_127	67	1206,7394	243.9+/-273.3	94,1018,3188	no	coding-synonymous	B3GNT8	NM_198540.2		98,1177,5228	GG,GA,AA		14.0233,3.7903,10.5567		207/398	41932063	1373,11633	2203	4300	6503	SO:0001628	intergenic_variant	374907			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41932063A>G		Somatic		WXS	SOLID	Phase_I	B4DP47|E7EW46|Q16034|Q16472	Silent	SNP	ENST00000269980.2	37	CCDS12581.1																																																																																				0.647	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3		NM_000709	
BNC1	646	hgsc.bcm.edu	37	15	83933199	83933199	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:83933199C>T	ENST00000345382.2	-	4	889	c.804G>A	c.(802-804)caG>caA	p.Q268Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.Q261Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	268					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGTCATGACCCTGCTCCAACA	0.488																																																	0													92.0	89.0	90.0					15																	83933199		2203	4300	6503	SO:0001819	synonymous_variant	646			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.804G>A	15.37:g.83933199C>T		Somatic		WXS	SOLID	Phase_I	Q15840	Silent	SNP	ENST00000345382.2	37	CCDS10324.1																																																																																				0.488	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1		NM_001717	
APOPT1	84334	hgsc.bcm.edu	37	14	104053676	104053676	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:104053676T>C	ENST00000409074.2	+	4	491	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_Missense_Mutation_p.F151L|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.F164L|APOPT1_ENST00000477116.1_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	164					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											AAGTAAAAATTTTCAGAAGCA	0.328																																																	0													48.0	51.0	50.0					14																	104053676		2203	4296	6499	SO:0001583	missense	0			BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.490T>C	14.37:g.104053676T>C	ENSP00000386485:p.Phe164Leu	Somatic		WXS	SOLID	Phase_I	Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411142	0.62399	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000472726;ENST00000247618	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.91	5.91	0.95273	.	0.159394	0.46145	D	0.000316	T	0.53786	0.1818	L	0.41710	1.295	0.36293	D	0.856543	D;B	0.53885	0.963;0.238	D;B	0.69824	0.966;0.057	T	0.60188	-0.7312	10	0.40728	T	0.16	.	12.7401	0.57246	0.0:0.0:0.0:1.0	.	164;164	E7EVH7;Q96IL0	.;APOP1_HUMAN	L	164;76;164;151	ENSP00000386485:F164L;ENSP00000388067:F76L;ENSP00000439065:F164L;ENSP00000247618:F151L	ENSP00000247618:F151L	F	+	1	0	C14orf153;RP11-73M18.2	103123429	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.406000	0.52637	2.254000	0.74563	0.533000	0.62120	TTT		0.328	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2		NM_032374	
C9orf3	84909	hgsc.bcm.edu	37	9	97823000	97823000	+	Missense_Mutation	SNP	C	C	T	rs187186964		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:97823000C>T	ENST00000375315.2	+	13	2140	c.2140C>T	c.(2140-2142)Ctt>Ttt	p.L714F	C9orf3_ENST00000425634.2_Missense_Mutation_p.L76F|C9orf3_ENST00000297979.5_Missense_Mutation_p.L615F|C9orf3_ENST00000433691.2_Missense_Mutation_p.L55F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	714					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCTGGTCTTGCTTCTGGAGCA	0.488																																																	0													122.0	109.0	113.0					9																	97823000		2203	4300	6503	SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2140C>T	9.37:g.97823000C>T	ENSP00000364464:p.Leu714Phe	Somatic		WXS	SOLID	Phase_I	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.844227|1.844227	0.32606|0.32606	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000445181|ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314	.|T;T;T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27;2.27;2.27	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38480|0.38480	0.1042|0.1042	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;P	.|0.89917	.|1.0;1.0;0.985;1.0;0.82	.|D;D;P;D;P	.|0.91635	.|0.999;0.999;0.858;0.999;0.615	T|T	0.17806|0.17806	-1.0357|-1.0357	5|10	.|0.02654	.|T	.|1	-15.644|-15.644	19.5946|19.5946	0.95530|0.95530	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|55;76;714;615;615	.|B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2	.|.;.;AMPO_HUMAN;.;.	V|F	78|615;714;438;496;76;55;78	.|ENSP00000297979:L615F;ENSP00000364464:L714F;ENSP00000402171:L438F;ENSP00000401854:L496F;ENSP00000411815:L76F;ENSP00000399365:L55F	.|ENSP00000297979:L615F	A|L	+|+	2|1	0|0	C9orf3|C9orf3	96862821|96862821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.465000|5.465000	0.66725|0.66725	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.488	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823	
CARS	833	hgsc.bcm.edu	37	11	3022346	3022346	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:3022346A>C	ENST00000397111.5	-	22	2490	c.2245T>G	c.(2245-2247)Tga>Gga	p.*749G	CARS_ENST00000380525.4_Nonstop_Mutation_p.*832G|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000397114.3_Nonstop_Mutation_p.*739G			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	0					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GTGCCCCCTCACTGGAAGCTT	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													157.0	142.0	147.0					11																	3022346		2202	4299	6501	SO:0001578	stop_lost	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2245T>G	11.37:g.3022346A>C	ENSP00000380300:p.*749Argext*8	Somatic		WXS	SOLID	Phase_I	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526830	0.27299	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000397114	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5843	0.56408	1.0:0.0:0.0:0.0	.	.	.	.	G	832;749;739	.	.	X	-	1	0	CARS	2978922	0.016000	0.18221	0.218000	0.23776	0.046000	0.14306	1.829000	0.39121	1.894000	0.54839	0.533000	0.62120	TGA		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4		NM_001751	
CCNDBP1	23582	hgsc.bcm.edu	37	15	43478362	43478362	+	Silent	SNP	T	T	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:43478362T>A	ENST00000300213.4	+	3	422	c.180T>A	c.(178-180)gcT>gcA	p.A60A	RP11-473C18.3_ENST00000565685.1_RNA|CCNDBP1_ENST00000356633.5_De_novo_Start_OutOfFrame|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	60	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle (GO:0007049)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		ATGAGGCAGCTGTGACTGTGT	0.557																																																	0													83.0	76.0	79.0					15																	43478362		2203	4299	6502	SO:0001819	synonymous_variant	23582			AF082569	CCDS10092.1	15q14-q15	2008-07-18			ENSG00000166946	ENSG00000166946			1587	protein-coding gene	gene with protein product	"""D-type cyclin-interacting protein 1"", ""MAID protein"", ""HHM Protein"", ""grap2 cyclin interacting protein"""	607089				10801854	Standard	NM_012142		Approved	DIP1, GCIP	uc001zqv.3	O95273	OTTHUMG00000130703	ENST00000300213.4:c.180T>A	15.37:g.43478362T>A		Somatic		WXS	SOLID	Phase_I	A8K3Q0|A8K3U2|Q6ZQN9|Q7Z519|Q8NBS7|Q8NBY2|Q9NS19|Q9NYH3|Q9UHX9	Silent	SNP	ENST00000300213.4	37	CCDS10092.1																																																																																				0.557	CCNDBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253203.1		NM_012142	
CGNL1	84952	hgsc.bcm.edu	37	15	57816814	57816814	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:57816814C>T	ENST00000281282.5	+	12	2982	c.2904C>T	c.(2902-2904)acC>acT	p.T968T	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	968						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTACCTCAACCCTGGAGCTCC	0.542																																																	0													105.0	108.0	107.0					15																	57816814		2192	4292	6484	SO:0001819	synonymous_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2904C>T	15.37:g.57816814C>T		Somatic		WXS	SOLID	Phase_I	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	CCDS10161.1																																																																																				0.542	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		NM_032866	
COL7A1	1294	hgsc.bcm.edu	37	3	48609842	48609842	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:48609842C>T	ENST00000328333.8	-	89	7056	c.6949G>A	c.(6949-6951)Ggc>Agc	p.G2317S	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2285S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2317	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGCAAGGCCTCCAGGGGCT	0.607																																																	0													83.0	88.0	86.0					3																	48609842		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6949G>A	3.37:g.48609842C>T	ENSP00000332371:p.Gly2317Ser	Somatic		WXS	SOLID	Phase_I	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673019	0.47781	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97089	-4.24;-4.24	5.75	5.75	0.90469	.	0.469841	0.17554	N	0.170079	D	0.95198	0.8443	L	0.36672	1.1	0.29546	N	0.85175	B	0.25351	0.124	B	0.34824	0.19	D	0.89387	0.3686	10	0.21014	T	0.42	.	17.0941	0.86630	0.0:1.0:0.0:0.0	.	2317	Q02388	CO7A1_HUMAN	S	2317;2285	ENSP00000332371:G2317S;ENSP00000412569:G2285S	ENSP00000332371:G2317S	G	-	1	0	COL7A1	48584846	0.028000	0.19301	0.999000	0.59377	0.833000	0.47200	0.494000	0.22467	2.709000	0.92574	0.557000	0.71058	GGC		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094	
CRYAA	1409	hgsc.bcm.edu;ucsc.edu	37	21	44589294	44589294	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr21:44589294G>A	ENST00000291554.2	+	1	177	c.85G>A	c.(85-87)Gag>Aag	p.E29K	CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	29					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTTTTTCGGCGAGGGCCTTTT	0.612																																																	0													150.0	150.0	150.0					21																	44589294		2203	4300	6503	SO:0001583	missense	1409				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.85G>A	21.37:g.44589294G>A	ENSP00000291554:p.Glu29Lys	Somatic		WXS	SOLID	Phase_I	Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384541	0.95967	.	.	ENSG00000160202	ENST00000291554	D	0.93019	-3.15	4.88	4.88	0.63580	Alpha-crystallin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97978	1.0347	10	0.66056	D	0.02	-33.7397	18.0021	0.89200	0.0:0.0:1.0:0.0	.	29	P02489	CRYAA_HUMAN	K	29	ENSP00000291554:E29K	ENSP00000291554:E29K	E	+	1	0	CRYAA	43462363	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.858000	0.92256	2.256000	0.74724	0.609000	0.83330	GAG		0.612	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			
CSMD1	64478	hgsc.bcm.edu;ucsc.edu	37	8	3046465	3046465	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:3046465C>T	ENST00000520002.1	-	36	6025	c.5470G>A	c.(5470-5472)Gga>Aga	p.G1824R	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1823R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1824R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1824R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1823R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1823R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1824R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1824	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTTGTTTCCGTATGGCTCA	0.478																																																	0													69.0	65.0	66.0					8																	3046465		1893	4112	6005	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5470G>A	8.37:g.3046465C>T	ENSP00000430733:p.Gly1824Arg	Somatic		WXS	SOLID	Phase_I	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.22|12.22	1.873369|1.873369	0.33069|0.33069	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.16743|.	2.32;2.32;2.32;2.32;2.32|.	5.53|5.53	5.53|5.53	0.82687|0.82687	CUB (5);|.	0.150694|.	0.46145|.	D|.	0.000305|.	T|T	0.50377|0.50377	0.1612|0.1612	N|N	0.21508|0.21508	0.67|0.67	0.42961|0.42961	D|D	0.994406|0.994406	D;P;P|.	0.89917|.	1.0;0.571;0.926|.	D;P;P|.	0.97110|.	1.0;0.464;0.531|.	T|T	0.46345|0.46345	-0.9198|-0.9198	10|5	0.16420|.	T|.	0.52|.	.|.	12.7615|12.7615	0.57367|0.57367	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	1824;1824;1824|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	R|Q	1824;1824;1686;1823;1823;1823|1303	ENSP00000383047:G1824R;ENSP00000430733:G1824R;ENSP00000441462:G1823R;ENSP00000446243:G1823R;ENSP00000441675:G1823R|.	ENSP00000320445:G1686R|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3033872|3033872	1.000000|1.000000	0.71417|0.71417	0.358000|0.358000	0.25811|0.25811	0.200000|0.200000	0.23975|0.23975	4.007000|4.007000	0.57093|0.57093	2.582000|2.582000	0.87167|0.87167	0.637000|0.637000	0.83480|0.83480	GGA|CGG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	
CT47A6	728062	hgsc.bcm.edu	37	X	120094375	120094375	+	Silent	SNP	T	T	C	rs369076692		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:120094375T>C	ENST00000443600.2	-	1	962	c.708A>G	c.(706-708)gaA>gaG	p.E236E	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	236										large_intestine(1)|lung(4)	5						CGGTCGGTTCTTCTGTGGCTG	0.682																																																	0								C		0,1522		0,0,678,166	17.0	58.0	47.0		708	-0.6	0.0	X		47	1,4024		0,1,1540,943	no	coding-synonymous	CT47A6	NM_001080141.1		0,1,2218,1109	CC,CT,TT,T		0.0248,0.0,0.018		236/289	120094375	1,5546	844	2484	3328	SO:0001819	synonymous_variant	728062				CCDS35386.1	Xq24	2013-10-15			ENSG00000226023	ENSG00000226023			33287	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 6"""	300785				16382448	Standard	NM_001080141		Approved	CT47.6	uc004eth.3	Q5JQC4	OTTHUMG00000022316	ENST00000443600.2:c.708A>G	X.37:g.120094375T>C		Somatic		WXS	SOLID	Phase_I	Q8N747	Silent	SNP	ENST00000443600.2	37	CCDS35386.1																																																																																				0.682	CT47A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058129.1		NM_001080141	
CTAGE5	4253	hgsc.bcm.edu	37	14	39783949	39783949	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:39783949A>G	ENST00000280083.3	+	15	1616	c.1302A>G	c.(1300-1302)cgA>cgG	p.R434R	CTAGE5_ENST00000341749.3_Silent_p.R422R|RP11-407N17.3_ENST00000553728.1_Silent_p.R969R|CTAGE5_ENST00000553352.1_Silent_p.R405R|CTAGE5_ENST00000341502.5_Silent_p.R434R|CTAGE5_ENST00000557038.1_Silent_p.R354R|CTAGE5_ENST00000556148.1_Silent_p.R359R|CTAGE5_ENST00000396165.4_Silent_p.R405R|CTAGE5_ENST00000396158.2_Silent_p.R439R|CTAGE5_ENST00000348007.3_Silent_p.R434R|RP11-407N17.3_ENST00000603904.1_Silent_p.R405R			O15320	CTGE5_HUMAN	CTAGE family, member 5	434					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTAGAAAGCGAGCCAAAGATC	0.303																																																	0													48.0	55.0	53.0					14																	39783949		2202	4296	6498	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1302A>G	14.37:g.39783949A>G		Somatic		WXS	SOLID	Phase_I	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	CCDS9674.1																																																																																				0.303	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2		NM_005930	
DMD	1756	hgsc.bcm.edu	37	X	31496341	31496341	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:31496341T>G	ENST00000357033.4	-	59	9025	c.8819A>C	c.(8818-8820)cAa>cCa	p.Q2940P	DMD_ENST00000474231.1_Missense_Mutation_p.Q480P|DMD_ENST00000359836.1_Missense_Mutation_p.Q480P|DMD_ENST00000445312.1_5'Flank|DMD_ENST00000378707.3_Missense_Mutation_p.Q480P|DMD_ENST00000541735.1_Missense_Mutation_p.Q480P|DMD_ENST00000343523.2_Missense_Mutation_p.Q480P|DMD_ENST00000378677.2_Missense_Mutation_p.Q2936P	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2940					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGTGGCCTCTTGAAGTTCCCG	0.537																																																	0													63.0	51.0	55.0					X																	31496341		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8819A>C	X.37:g.31496341T>G	ENSP00000354923:p.Gln2940Pro	Somatic		WXS	SOLID	Phase_I	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856257	0.71834	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.4	5.4	0.78164	.	0.000000	0.35585	U	0.003106	T	0.69396	0.3106	M	0.76838	2.35	0.58432	D	0.999999	P;D;D;D;D;D;D;D;D;P;D	0.76494	0.832;0.999;0.999;0.999;0.999;0.997;0.999;0.999;0.963;0.955;0.998	P;D;D;D;D;D;D;D;P;P;D	0.83275	0.871;0.966;0.996;0.966;0.977;0.976;0.979;0.979;0.691;0.564;0.974	T	0.73943	-0.3823	10	0.72032	D	0.01	.	14.6815	0.69020	0.0:0.0:0.0:1.0	.	2932;2940;2936;1599;1596;480;480;480;480;480;2817	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	P	2932;1599;1596;636;2936;2940;480;480;2940;2817;480;480;480	ENSP00000350765:Q636P;ENSP00000367948:Q2936P;ENSP00000354923:Q2940P;ENSP00000352894:Q480P;ENSP00000340057:Q480P;ENSP00000367979:Q480P;ENSP00000444119:Q480P;ENSP00000417123:Q480P	ENSP00000340057:Q480P	Q	-	2	0	DMD	31406262	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.655000	0.83696	1.916000	0.55485	0.430000	0.28490	CAA		0.537	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
DSCAML1	57453	hgsc.bcm.edu	37	11	117299382	117299382	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:117299382G>C	ENST00000321322.6	-	33	6005	c.6004C>G	c.(6004-6006)Cgc>Ggc	p.R2002G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1732G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1942	Pro-rich.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCAGGTGGCGAGCCTGGGTG	0.677																																																	0													30.0	30.0	30.0					11																	117299382		2198	4295	6493	SO:0001583	missense	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.6004C>G	11.37:g.117299382G>C	ENSP00000315465:p.Arg2002Gly	Somatic		WXS	SOLID	Phase_I	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240299	0.58995	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.64438	-0.05;-0.1	4.93	4.93	0.64822	.	.	.	.	.	T	0.42381	0.1200	N	0.08118	0	0.54753	D	0.999987	B	0.12013	0.005	B	0.10450	0.005	T	0.31336	-0.9947	9	0.34782	T	0.22	.	13.6021	0.62026	0.0:0.0:0.844:0.156	.	1942	Q8TD84	DSCL1_HUMAN	G	1732;2002;1709	ENSP00000434335:R1732G;ENSP00000315465:R2002G	ENSP00000315465:R2002G	R	-	1	0	DSCAML1	116804592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.991000	0.56973	2.279000	0.76181	0.462000	0.41574	CGC		0.677	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693	
DST	667	hgsc.bcm.edu;ucsc.edu	37	6	56418199	56418199	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr6:56418199A>G	ENST00000361203.3	-	57	14765	c.14758T>C	c.(14758-14760)Tct>Cct	p.S4920P	DST_ENST00000370754.5_Missense_Mutation_p.S5100P|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2834P|DST_ENST00000244364.6_Missense_Mutation_p.S2508P|DST_ENST00000370769.4_Missense_Mutation_p.S4922P|DST_ENST00000446842.2_Missense_Mutation_p.S4596P|DST_ENST00000370788.2_Missense_Mutation_p.S2834P			Q03001	DYST_HUMAN	dystonin	4920					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTTCTCAGACCCTTGTGTT	0.328																																																	0													114.0	108.0	109.0					6																	56418199		1822	4084	5906	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14758T>C	6.37:g.56418199A>G	ENSP00000354508:p.Ser4920Pro	Somatic		WXS	SOLID	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	A	9.955	1.221133	0.22457	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.61	0.0384	0.14200	.	0.396892	0.21458	N	0.074216	T	0.13798	0.0334	L	0.36672	1.1	0.24110	N	0.995846	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.0;0.002	B;B;B;B;B	0.12837	0.007;0.008;0.008;0.002;0.005	T	0.08868	-1.0701	9	0.27785	T	0.31	.	5.2959	0.15752	0.269:0.5513:0.0802:0.0996	.	2834;4922;5100;4920;2508	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	P	2508;5100;4922;2834;4596;2834;4920	ENSP00000244364:S2508P;ENSP00000359790:S5100P;ENSP00000359805:S4922P;ENSP00000400883:S2834P;ENSP00000393645:S4596P;ENSP00000359824:S2834P;ENSP00000354508:S4920P	ENSP00000244364:S2508P	S	-	1	0	DST	56526158	0.600000	0.26899	0.945000	0.38365	0.965000	0.64279	0.868000	0.27982	0.412000	0.25729	-0.256000	0.11100	TCT		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
AGO1	26523	hgsc.bcm.edu	37	1	36358772	36358772	+	Silent	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:36358772T>C	ENST00000373204.4	+	4	618	c.405T>C	c.(403-405)atT>atC	p.I135I	AGO1_ENST00000373206.1_Silent_p.I60I	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	135					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GGCTAGCCATTGTGAGCTGGC	0.557																																																	0													107.0	92.0	97.0					1																	36358772		2203	4300	6503	SO:0001819	synonymous_variant	26523			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.405T>C	1.37:g.36358772T>C		Somatic		WXS	SOLID	Phase_I	Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	CCDS398.1																																																																																				0.557	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			
ELK3	2004	hgsc.bcm.edu	37	12	96641322	96641322	+	Missense_Mutation	SNP	T	T	G	rs199857700		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr12:96641322T>G	ENST00000228741.3	+	3	1138	c.812T>G	c.(811-813)cTg>cGg	p.L271R	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	271					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TCCGATTCCCTGGAGCCCTTG	0.597																																																	0													64.0	72.0	69.0					12																	96641322		2203	4300	6503	SO:0001583	missense	2004			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.812T>G	12.37:g.96641322T>G	ENSP00000228741:p.Leu271Arg	Somatic		WXS	SOLID	Phase_I	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.275601	0.40294	.	.	ENSG00000111145	ENST00000228741	T	0.32988	1.43	5.93	5.93	0.95920	.	0.596762	0.17763	N	0.162825	T	0.39489	0.1080	M	0.61703	1.905	0.80722	D	1	P	0.45348	0.856	P	0.44477	0.451	T	0.18935	-1.0321	10	0.45353	T	0.12	.	16.3829	0.83481	0.0:0.0:0.0:1.0	.	271	P41970	ELK3_HUMAN	R	271	ENSP00000228741:L271R	ENSP00000228741:L271R	L	+	2	0	ELK3	95165453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.505000	0.66981	2.271000	0.75665	0.459000	0.35465	CTG		0.597	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1		NM_005230	
EMD	2010	hgsc.bcm.edu	37	X	153609311	153609311	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:153609311C>T	ENST00000369842.4	+	6	807	c.519C>T	c.(517-519)tcC>tcT	p.S173S	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.S138S	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	173	Interaction with CTNNB1.|Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTCAGCCTCCAGGAGCTCCC	0.587																																																	0													130.0	86.0	101.0					X																	153609311		2203	4300	6503	SO:0001819	synonymous_variant	2010			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.519C>T	X.37:g.153609311C>T		Somatic		WXS	SOLID	Phase_I	Q6FI02	Silent	SNP	ENST00000369842.4	37	CCDS14745.1																																																																																				0.587	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			
ERBB2IP	55914	hgsc.bcm.edu	37	5	65321792	65321792	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:65321792A>G	ENST00000284037.5	+	12	1396	c.1007A>G	c.(1006-1008)cAg>cGg	p.Q336R	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.Q336R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q336R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	336					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TACTTACAGCAGTTGCCCCCA	0.328																																																	0													60.0	58.0	59.0					5																	65321792		2202	4300	6502	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1007A>G	5.37:g.65321792A>G	ENSP00000284037:p.Gln336Arg	Somatic		WXS	SOLID	Phase_I	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535213	0.64972	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;2.26;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.32	5.32	0.75619	.	0.051131	0.85682	D	0.000000	T	0.34019	0.0883	N	0.13003	0.285	0.80722	D	1	P;B;B;D;P;B;B;B	0.65815	0.901;0.313;0.274;0.995;0.465;0.321;0.164;0.241	B;B;B;D;B;B;B;B	0.75020	0.306;0.166;0.115;0.985;0.115;0.09;0.1;0.101	T	0.25537	-1.0129	10	0.48119	T	0.1	.	15.5804	0.76432	1.0:0.0:0.0:0.0	.	336;336;336;336;336;336;336;336	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	R	336	ENSP00000284037:Q336R;ENSP00000370330:Q336R;ENSP00000397833:Q336R;ENSP00000370326:Q336R;ENSP00000370323:Q336R;ENSP00000370322:Q336R;ENSP00000370325:Q336R;ENSP00000422766:Q336R;ENSP00000426632:Q336R;ENSP00000422015:Q336R	ENSP00000284037:Q336R	Q	+	2	0	ERBB2IP	65357548	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	8.491000	0.90468	2.130000	0.65690	0.460000	0.39030	CAG		0.328	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1		NM_018695	
CCSER1	401145	hgsc.bcm.edu	37	4	91230368	91230368	+	Silent	SNP	G	G	A	rs200529705	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr4:91230368G>A	ENST00000509176.1	+	2	1221	c.933G>A	c.(931-933)acG>acA	p.T311T	CCSER1_ENST00000432775.2_Silent_p.T311T|CCSER1_ENST00000333691.8_Silent_p.T311T	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	311																	CAGAACTTACGGGAACTGTTC	0.443													G|||	4	0.000798722	0.003	0.0	5008	,	,		20621	0.0		0.0	False		,,,				2504	0.0																0								G	,	5,3809		0,5,1902	156.0	148.0	150.0		933,933	-3.0	0.0	4		150	0,8238		0,0,4119	no	coding-synonymous,coding-synonymous	FAM190A	NM_001145065.1,NM_207491.2	,	0,5,6021	AA,AG,GG		0.0,0.1311,0.0415	,	311/901,311/678	91230368	5,12047	1907	4119	6026	SO:0001819	synonymous_variant	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.933G>A	4.37:g.91230368G>A		Somatic		WXS	SOLID	Phase_I	Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	CCDS47099.1																																																																																				0.443	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3		NM_001145065	
FAT2	2196	hgsc.bcm.edu	37	5	150924102	150924102	+	Silent	SNP	G	G	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:150924102G>T	ENST00000261800.5	-	9	6598	c.6586C>A	c.(6586-6588)Cgg>Agg	p.R2196R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2196	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTGGACTCCGGGCCTGGGTG	0.473																																																	0													83.0	95.0	91.0					5																	150924102		2203	4300	6503	SO:0001819	synonymous_variant	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6586C>A	5.37:g.150924102G>T		Somatic		WXS	SOLID	Phase_I	O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	CCDS4317.1																																																																																				0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447	
GPR35	2859	hgsc.bcm.edu	37	2	241570127	241570127	+	Missense_Mutation	SNP	C	C	T	rs12468485	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:241570127C>T	ENST00000319838.5	+	6	1700	c.758C>T	c.(757-759)aCg>aTg	p.T253M	GPR35_ENST00000430267.1_Missense_Mutation_p.T253M|GPR35_ENST00000403859.1_Missense_Mutation_p.T253M|GPR35_ENST00000407714.1_Missense_Mutation_p.T253M|GPR35_ENST00000438013.2_Missense_Mutation_p.T284M	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	253			T -> M (in dbSNP:rs12468485). {ECO:0000269|PubMed:11017071}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTCCTGGAGACGATCCGTCGC	0.627													C|||	245	0.0489217	0.0008	0.0303	5008	,	,		17815	0.0149		0.0845	False		,,,				2504	0.1258																0								C	MET/THR,MET/THR,MET/THR	77,4329	68.1+/-105.8	0,77,2126	132.0	112.0	119.0		851,851,758	-4.2	0.0	2	dbSNP_120	119	643,7957	164.3+/-216.7	25,593,3682	yes	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	81,81,81	25,670,5808	TT,TC,CC		7.4767,1.7476,5.5359	probably-damaging,probably-damaging,probably-damaging	284/341,284/341,253/310	241570127	720,12286	2203	4300	6503	SO:0001583	missense	2859				CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.758C>T	2.37:g.241570127C>T	ENSP00000322731:p.Thr253Met	Somatic		WXS	SOLID	Phase_I	J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	CCDS2541.1	96	0.04395604395604396	1	0.0020325203252032522	14	0.03867403314917127	8	0.013986013986013986	73	0.09630606860158311	C	10.11	1.259340	0.23051	0.017476	0.074767	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	2.09	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	1.243590	0.05916	U	0.632501	T	0.02888	0.0086	N	0.24115	0.695	0.09310	N	1	D;P	0.58268	0.982;0.952	P;B	0.47626	0.552;0.413	T	0.28681	-1.0036	10	0.33940	T	0.23	-2.1696	8.591	0.33688	0.0:0.4449:0.0:0.5551	rs12468485	284;253	A8K2J1;Q9HC97	.;GPR35_HUMAN	M	253;253;284;253;253	ENSP00000322731:T253M;ENSP00000385140:T253M;ENSP00000415890:T284M;ENSP00000384263:T253M;ENSP00000411788:T253M	ENSP00000322731:T253M	T	+	2	0	GPR35	241218800	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.969000	0.01506	-1.434000	0.01975	-0.727000	0.03589	ACG		0.627	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1		NM_001195382	
HDAC10	83933	hgsc.bcm.edu	37	22	50685379	50685379	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr22:50685379G>A	ENST00000216271.5	-	15	1791	c.1439C>T	c.(1438-1440)gCa>gTa	p.A480V	TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A430V|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A460V|TUBGCP6_ENST00000439308.2_5'Flank	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	480					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGTGGCTGCTATACCACT	0.562																																																	0													36.0	33.0	34.0					22																	50685379		2201	4299	6500	SO:0001583	missense	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1439C>T	22.37:g.50685379G>A	ENSP00000216271:p.Ala480Val	Somatic		WXS	SOLID	Phase_I	Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.086986	0.20390	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.28666	1.6;1.6;1.6	4.88	-1.2	0.09554	.	0.908929	0.09404	N	0.806835	T	0.21227	0.0511	L	0.40543	1.245	0.18873	N	0.999989	B;B;B;B	0.25904	0.034;0.02;0.137;0.02	B;B;B;B	0.24541	0.034;0.025;0.054;0.015	T	0.30387	-0.9980	10	0.54805	T	0.06	-0.4237	4.4307	0.11525	0.3648:0.1584:0.4768:0.0	.	460;430;480;480	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	480;430;460	ENSP00000216271:A480V;ENSP00000397542:A430V;ENSP00000343540:A460V	ENSP00000216271:A480V	A	-	2	0	HDAC10	49027506	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	0.454000	0.21827	0.077000	0.16863	-0.812000	0.03155	GCA		0.562	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4		NM_032019	
HUWE1	10075	hgsc.bcm.edu	37	X	53577912	53577912	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:53577912A>T	ENST00000342160.3	-	64	9792	c.9335T>A	c.(9334-9336)cTg>cAg	p.L3112Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.L3112Q|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3112					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						GTGCCCAAACAGACGCTCATG	0.577																																																	0													62.0	45.0	51.0					X																	53577912		2203	4300	6503	SO:0001583	missense	10075			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.9335T>A	X.37:g.53577912A>T	ENSP00000340648:p.Leu3112Gln	Somatic		WXS	SOLID	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319530	0.60524	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.45668	0.89;0.89	5.75	5.75	0.90469	.	0.087890	0.45361	D	0.000378	T	0.56046	0.1959	L	0.57536	1.79	0.58432	D	0.999994	D;D	0.58620	0.971;0.983	P;P	0.58331	0.691;0.837	T	0.57888	-0.7733	10	0.54805	T	0.06	.	13.9436	0.64071	1.0:0.0:0.0:0.0	.	3112;3096	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	3112	ENSP00000340648:L3112Q;ENSP00000262854:L3112Q	ENSP00000262854:L3112Q	L	-	2	0	HUWE1	53594637	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.490000	0.90464	1.937000	0.56155	0.417000	0.27973	CTG		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119	
HSFX1	100506164	hgsc.bcm.edu	37	X	148856615	148856615	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:148856615T>G	ENST00000370416.4	+	1	890	c.276T>G	c.(274-276)gaT>gaG	p.D92E		NM_016153.2	NP_057237.1	Q9UBD0	HSFX1_HUMAN	heat shock transcription factor family, X linked 1	92					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)					Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGGAGAAGATAATCTCCTCT	0.562																																																	0																																										SO:0001583	missense	100506164				CCDS44011.1	Xq28	2011-05-26			ENSG00000171116	ENSG00000171116			29603	protein-coding gene	gene with protein product						15044259	Standard	NM_016153		Approved	LW-1		Q9UBD0	OTTHUMG00000022626	ENST00000370416.4:c.276T>G	X.37:g.148856615T>G	ENSP00000359444:p.Asp92Glu	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000370416.4	37	CCDS44011.1	.	.	.	.	.	.	.	.	.	.	T	3.929	-0.016555	0.07681	.	.	ENSG00000171116	ENST00000370416	.	.	.	2.05	-4.11	0.03928	.	1.352190	0.05028	N	0.474126	T	0.18341	0.0440	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12941	-1.0528	6	0.17369	T	0.5	-7.704	5.2003	0.15260	0.0:0.3212:0.154:0.5248	.	.	.	.	E	92	.	ENSP00000359444:D92E	D	+	3	2	HSFX1	148664423	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.001000	0.12947	-2.755000	0.00372	-1.982000	0.00454	GAT		0.562	HSFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058717.1		NM_016153	
IL17RC	84818	hgsc.bcm.edu	37	3	9974300	9974300	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:9974300A>G	ENST00000295981.3	+	17	1827	c.1609A>G	c.(1609-1611)Aag>Gag	p.K537E	CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000455057.1_Missense_Mutation_p.K434E|CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000413608.1_Missense_Mutation_p.K466E|CRELD1_ENST00000397170.3_5'Flank|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000403601.3_Missense_Mutation_p.K466E|IL17RC_ENST00000416074.2_Missense_Mutation_p.K305E|IL17RC_ENST00000383812.4_Missense_Mutation_p.K451E|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	537					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.K537E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGACATCCACAAGCGCTGGGC	0.542																																																	1	Substitution - Missense(1)	ovary(1)											72.0	77.0	75.0					3																	9974300		2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1609A>G	3.37:g.9974300A>G	ENSP00000295981:p.Lys537Glu	Somatic		WXS	SOLID	Phase_I	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863208	0.51482	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T	0.44083	1.9;1.89;1.9;0.93;1.88	4.71	-2.5	0.06384	.	1.021750	0.07821	N	0.959858	T	0.24314	0.0589	N	0.19112	0.55	0.20821	N	0.999845	B;B;B;B;B;B;B;B;B	0.26318	0.012;0.012;0.002;0.002;0.009;0.007;0.012;0.146;0.037	B;B;B;B;B;B;B;B;B	0.24974	0.009;0.009;0.004;0.004;0.003;0.004;0.009;0.057;0.013	T	0.28459	-1.0043	10	0.18276	T	0.48	-3.3982	9.2504	0.37551	0.1747:0.6939:0.1314:0.0	.	451;305;434;449;466;305;451;537;466	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;B4E008;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	E	451;537;466;305;434;466	ENSP00000373323:K451E;ENSP00000295981:K537E;ENSP00000384969:K466E;ENSP00000407894:K434E;ENSP00000396064:K466E	ENSP00000295981:K537E	K	+	1	0	IL17RC	9949300	0.022000	0.18835	0.990000	0.47175	0.975000	0.68041	-0.315000	0.08081	-0.028000	0.13850	0.379000	0.24179	AAG		0.542	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732	
ITGB8	3696	hgsc.bcm.edu	37	7	20371478	20371478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr7:20371478C>T	ENST00000222573.4	+	1	733	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	ITGB8_ENST00000537992.1_Intron|CTA-293F17.1_ENST00000603156.1_RNA|CTA-293F17.1_ENST00000605357.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	17					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGTCTGCCTGCAAAACGACCG	0.587																																																	0													78.0	76.0	77.0					7																	20371478		2203	4300	6503	SO:0001587	stop_gained	3696				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.49C>T	7.37:g.20371478C>T	ENSP00000222573:p.Gln17*	Somatic		WXS	SOLID	Phase_I	A4D133|B4DHD4	Nonsense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	C	41	8.691443	0.98916	.	.	ENSG00000105855	ENST00000222573	.	.	.	5.31	5.31	0.75309	.	0.498267	0.17422	N	0.174798	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.6107	14.3482	0.66680	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000222573:Q17X	Q	+	1	0	ITGB8	20338003	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	3.724000	0.54962	2.765000	0.95021	0.655000	0.94253	CAA		0.587	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3		NM_002214	
KCNS3	3790	hgsc.bcm.edu	37	2	18113361	18113362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:18113361_18113362insT	ENST00000403915.1	+	3	1537_1538	c.1086_1087insT	c.(1087-1089)tggfs	p.W363fs	KCNS3_ENST00000304101.4_Frame_Shift_Ins_p.W363fs|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	363	Segment H5 (pore-forming). {ECO:0000255}.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCTGCTGGTGGTGGGCCACCAT	0.545																																																	0																																										SO:0001589	frameshift_variant	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1087dupT	2.37:g.18113362_18113362dupT	ENSP00000385968:p.Trp363fs	Somatic		WXS	SOLID	Phase_I	D6W520|O43651|Q4ZFY1|Q96B56	Frame_Shift_Ins	INS	ENST00000403915.1	37	CCDS1692.1																																																																																				0.545	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1		NM_002252	
LGR6	59352	hgsc.bcm.edu	37	1	202273686	202273686	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:202273686G>A	ENST00000367278.3	+	11	1087		c.e11-1		LGR6_ENST00000255432.7_Splice_Site|LGR6_ENST00000308543.3_Splice_Site|LGR6_ENST00000439764.2_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCCCTGCAGGACCCTGACC	0.637																																																	0													36.0	39.0	38.0					1																	202273686		2203	4300	6503	SO:0001630	splice_region_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.999-1G>A	1.37:g.202273686G>A		Somatic		WXS	SOLID	Phase_I	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Splice_Site	SNP	ENST00000367278.3	37	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520112	0.85495	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2864	0.82724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LGR6	200540309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.578000	0.87016	0.655000	0.94253	.		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1		NM_021636	Intron
KDM5B	10765	hgsc.bcm.edu	37	1	202710614	202710614	+	Silent	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:202710614T>G	ENST00000367265.3	-	19	3990	c.2826A>C	c.(2824-2826)atA>atC	p.I942I	KDM5B_ENST00000367264.2_Silent_p.I978I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	942					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCCTAGGTCTATGAGACGTC	0.547																																																	0													75.0	70.0	72.0					1																	202710614		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2826A>C	1.37:g.202710614T>G		Somatic		WXS	SOLID	Phase_I	O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343772	0.24339	.	.	ENSG00000117139	ENST00000543924	.	.	.	5.95	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.5412	13.3948	0.60846	0.0:0.0:0.1313:0.8687	.	.	.	.	S	311	.	.	X	-	2	0	KDM5B	200977237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.606000	0.46291	1.051000	0.40369	0.460000	0.39030	TAG		0.547	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618	
LRCH2	57631	hgsc.bcm.edu	37	X	114357118	114357118	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:114357118T>C	ENST00000317135.8	-	20	2180	c.2150A>G	c.(2149-2151)gAt>gGt	p.D717G	LRCH2_ENST00000538422.1_Missense_Mutation_p.D700G	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	717	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TTTACAAGCATCAAGAAAATT	0.328																																																	0													92.0	78.0	82.0					X																	114357118		1821	4071	5892	SO:0001583	missense	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2150A>G	X.37:g.114357118T>C	ENSP00000325091:p.Asp717Gly	Somatic		WXS	SOLID	Phase_I	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887328	0.72410	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.95238	-3.65;-3.65	5.37	5.37	0.77165	Calponin homology domain (5);	0.052453	0.85682	D	0.000000	D	0.96228	0.8770	L	0.59436	1.845	0.58432	D	0.999999	D;B	0.76494	0.999;0.041	D;B	0.85130	0.997;0.087	D	0.96607	0.9449	10	0.87932	D	0	-18.2758	13.1767	0.59630	0.0:0.0:0.0:1.0	.	717;700	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	G	717;196;700	ENSP00000325091:D717G;ENSP00000439366:D700G	ENSP00000325091:D717G	D	-	2	0	LRCH2	114263374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.326000	0.79133	1.993000	0.58246	0.441000	0.28932	GAT		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2		NM_020871	
LRCH2	57631	hgsc.bcm.edu	37	X	114357120	114357120	+	Silent	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:114357120A>T	ENST00000317135.8	-	20	2178	c.2148T>A	c.(2146-2148)ctT>ctA	p.L716L	LRCH2_ENST00000538422.1_Silent_p.L699L	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	716	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TACAAGCATCAAGAAAATTTT	0.328																																																	0													91.0	78.0	82.0					X																	114357120		1818	4070	5888	SO:0001819	synonymous_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2148T>A	X.37:g.114357120A>T		Somatic		WXS	SOLID	Phase_I	F5H2T1|Q08AD5|Q9HA88|Q9P233	Silent	SNP	ENST00000317135.8	37	CCDS48155.1																																																																																				0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2		NM_020871	
LRP2	4036	hgsc.bcm.edu;ucsc.edu	37	2	170003359	170003359	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:170003359A>T	ENST00000263816.3	-	69	12986	c.12701T>A	c.(12700-12702)cTt>cAt	p.L4234H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4234					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCGATAGAAAGGCCAGTTGG	0.453																																																	0													111.0	98.0	103.0					2																	170003359		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12701T>A	2.37:g.170003359A>T	ENSP00000263816:p.Leu4234His	Somatic		WXS	SOLID	Phase_I	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217882	0.79352	.	.	ENSG00000081479	ENST00000263816	D	0.97598	-4.45	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99113	1.0847	10	0.87932	D	0	.	15.9892	0.80188	1.0:0.0:0.0:0.0	.	4234	P98164	LRP2_HUMAN	H	4234	ENSP00000263816:L4234H	ENSP00000263816:L4234H	L	-	2	0	LRP2	169711605	1.000000	0.71417	0.921000	0.36526	0.488000	0.33401	9.339000	0.96797	2.180000	0.69256	0.533000	0.62120	CTT		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
MAGEC1	9947	hgsc.bcm.edu	37	X	140993864	140993864	+	Missense_Mutation	SNP	T	T	C	rs34836042		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chrX:140993864T>C	ENST00000285879.4	+	4	960	c.674T>C	c.(673-675)tTt>tCt	p.F225S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	225				TQSTF -> SQRTS (in Ref. 1 and 2). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTACTTTTGAGGGTTTT	0.498										HNSCC(15;0.026)																																							0													110.0	112.0	111.0					X																	140993864		2202	4290	6492	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.674T>C	X.37:g.140993864T>C	ENSP00000285879:p.Phe225Ser	Somatic		WXS	SOLID	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	1.164	-0.643046	0.03531	.	.	ENSG00000155495	ENST00000285879	T	0.02177	4.41	.	.	.	.	.	.	.	.	T	0.00936	0.0031	N	0.08118	0	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.45352	-0.9267	7	0.06494	T	0.89	.	3.926	0.09263	0.0:0.3344:0.0:0.6656	rs55909043	225	O60732	MAGC1_HUMAN	S	225	ENSP00000285879:F225S	ENSP00000285879:F225S	F	+	2	0	MAGEC1	140821530	0.003000	0.15002	0.015000	0.15790	0.015000	0.08874	-1.226000	0.02953	-2.202000	0.00745	-2.195000	0.00310	TTT		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MBTPS1	8720	hgsc.bcm.edu	37	16	84089720	84089720	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:84089720T>C	ENST00000343411.3	-	22	3347	c.2852A>G	c.(2851-2853)aAg>aGg	p.K951R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	951					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGAGAGTAGCTTCTGATGTTT	0.458																																																	0													105.0	97.0	99.0					16																	84089720		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2852A>G	16.37:g.84089720T>C	ENSP00000344223:p.Lys951Arg	Somatic		WXS	SOLID	Phase_I	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.707304	0.89018	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.23754	1.89	5.65	5.65	0.86999	.	0.240250	0.40385	N	0.001120	T	0.28566	0.0707	M	0.63843	1.955	0.80722	D	1	P	0.45902	0.868	B	0.38428	0.273	T	0.08330	-1.0727	10	0.48119	T	0.1	-31.1177	15.8909	0.79296	0.0:0.0:0.0:1.0	.	951	Q14703	MBTP1_HUMAN	R	951;396	ENSP00000344223:K951R	ENSP00000344223:K951R	K	-	2	0	MBTPS1	82647221	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	7.913000	0.87471	2.146000	0.66826	0.533000	0.62120	AAG		0.458	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2		NM_003791	
MYH6	4624	hgsc.bcm.edu	37	14	23865529	23865529	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:23865529A>C	ENST00000356287.3	-	19	2422	c.2393T>G	c.(2392-2394)cTc>cGc	p.L798R	MYH6_ENST00000405093.3_Missense_Mutation_p.L798R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	798	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AATGCGCATGAGCTGGCCCCG	0.572																																																	0													94.0	84.0	87.0					14																	23865529		2203	4300	6503	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2393T>G	14.37:g.23865529A>C	ENSP00000348634:p.Leu798Arg	Somatic		WXS	SOLID	Phase_I	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	a	16.95	3.264042	0.59431	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.74421	-0.84;-0.84	4.78	4.78	0.61160	.	.	.	.	.	D	0.90113	0.6911	H	0.96333	3.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.93218	0.6606	9	0.87932	D	0	.	14.5986	0.68424	1.0:0.0:0.0:0.0	.	798	P13533	MYH6_HUMAN	R	798	ENSP00000386041:L798R;ENSP00000348634:L798R	ENSP00000348634:L798R	L	-	2	0	MYH6	22935369	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	8.973000	0.93428	1.929000	0.55896	0.528000	0.53228	CTC		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			
NAV3	89795	hgsc.bcm.edu	37	12	78401149	78401149	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr12:78401149A>C	ENST00000397909.2	+	8	2004	c.1831A>C	c.(1831-1833)Aat>Cat	p.N611H	NAV3_ENST00000266692.7_Missense_Mutation_p.N611H|NAV3_ENST00000536525.2_Missense_Mutation_p.N611H|NAV3_ENST00000228327.6_Missense_Mutation_p.N611H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	611						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAGCACAGGAAATGGTGCTGT	0.532										HNSCC(70;0.22)																																							0													134.0	133.0	133.0					12																	78401149		2102	4218	6320	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1831A>C	12.37:g.78401149A>C	ENSP00000381007:p.Asn611His	Somatic		WXS	SOLID	Phase_I	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	A	17.11	3.304636	0.60305	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	4.69	4.69	0.59074	.	0.000000	0.42682	U	0.000674	T	0.17577	0.0422	L	0.42245	1.32	0.80722	D	1	P;P	0.41131	0.739;0.729	B;B	0.44224	0.444;0.351	T	0.01424	-1.1358	10	0.66056	D	0.02	-24.0287	14.1398	0.65313	1.0:0.0:0.0:0.0	.	611;611	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	H	611	ENSP00000446628:N611H;ENSP00000446132:N611H;ENSP00000381007:N611H;ENSP00000228327:N611H;ENSP00000266692:N611H	ENSP00000228327:N611H	N	+	1	0	NAV3	76925280	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	7.143000	0.77348	1.751000	0.51876	0.454000	0.30748	AAT		0.532	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383	
NFATC1	4772	hgsc.bcm.edu	37	18	77211777	77211777	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr18:77211777C>T	ENST00000427363.2	+	6	1864	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L	NFATC1_ENST00000592223.1_Silent_p.L609L|NFATC1_ENST00000318065.5_Silent_p.L609L|NFATC1_ENST00000587635.1_Silent_p.S593S|NFATC1_ENST00000542384.1_Silent_p.L622L|NFATC1_ENST00000591814.1_Silent_p.L622L|NFATC1_ENST00000253506.5_Silent_p.L622L|NFATC1_ENST00000545796.1_Silent_p.L150L|NFATC1_ENST00000586434.1_Silent_p.L609L|NFATC1_ENST00000329101.4_Silent_p.L609L|NFATC1_ENST00000397790.2_Silent_p.L150L			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	622					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCACAACTTCCTGCAGGACTC	0.622																																					GBM(151;1210 2593 28719 45011)												0													105.0	102.0	103.0					18																	77211777		2203	4300	6503	SO:0001819	synonymous_variant	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1864C>T	18.37:g.77211777C>T		Somatic		WXS	SOLID	Phase_I	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37																																																																																					0.622	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1		NM_172390	
NFKBIZ	64332	hgsc.bcm.edu	37	3	101576021	101576021	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:101576021T>A	ENST00000326172.5	+	10	2044	c.1929T>A	c.(1927-1929)aaT>aaA	p.N643K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N543K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N521K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	643	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CTTTTGTGAATGCAAAGGTAC	0.468																																																	0													76.0	91.0	86.0					3																	101576021		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1929T>A	3.37:g.101576021T>A	ENSP00000325663:p.Asn643Lys	Somatic		WXS	SOLID	Phase_I	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857225	0.71834	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.98	1.01	0.19927	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.75447	2.3	0.50313	D	0.999864	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.59429	-0.7456	10	0.72032	D	0.01	-11.0852	9.7667	0.40565	0.0:0.3875:0.0:0.6125	.	521;643	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	K	543;543;521;643	ENSP00000419800:N543K;ENSP00000377618:N543K;ENSP00000325593:N521K;ENSP00000325663:N643K	ENSP00000325593:N521K	N	+	3	2	NFKBIZ	103058711	0.684000	0.27642	0.981000	0.43875	0.953000	0.61014	-0.088000	0.11198	0.176000	0.19873	0.482000	0.46254	AAT		0.468	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1		NM_031419	
NKAIN1	79570	hgsc.bcm.edu	37	1	31654716	31654716	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:31654716G>T	ENST00000373736.2	-	6	611	c.605C>A	c.(604-606)cCt>cAt	p.P202H	NKAIN1_ENST00000398657.2_Missense_Mutation_p.P131H|NKAIN1_ENST00000263693.1_Missense_Mutation_p.P158H|NKAIN1_ENST00000528449.1_5'Flank	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		CGTGTACAGAGGCTGCAGCTG	0.642																																																	0													23.0	28.0	26.0					1																	31654716		2202	4299	6501	SO:0001583	missense	79570			AK022712	CCDS339.1, CCDS339.2	1p35.2	2010-06-25	2007-10-04	2007-10-04	ENSG00000084628	ENSG00000084628		"""Na+/K+ transporting ATPase interacting"""	25743	protein-coding gene	gene with protein product		612871	"""family with sequence similarity 77, member C"""	FAM77C		17606467	Standard	NM_024522		Approved	FLJ12650	uc010ogd.2	Q4KMZ8	OTTHUMG00000003788	ENST00000373736.2:c.605C>A	1.37:g.31654716G>T	ENSP00000362841:p.Pro202His	Somatic		WXS	SOLID	Phase_I	A2VDJ3|B7Z5F5|B7Z5W9|Q9H9M7	Missense_Mutation	SNP	ENST00000373736.2	37	CCDS339.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.887828|4.887828	0.91814|0.91814	.|.	.|.	ENSG00000084628|ENSG00000084628	ENST00000526106|ENST00000373736;ENST00000263693;ENST00000398657	.|T;T;T	.|0.18810	.|2.19;2.19;2.19	5.27|5.27	4.29|4.29	0.51040|0.51040	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48314|0.48314	0.1493|0.1493	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.985;1.0	.|D;D	.|0.97110	.|0.919;1.0	T|T	0.54268|0.54268	-0.8319|-0.8319	5|10	.|0.87932	.|D	.|0	-12.1898|-12.1898	14.6327|14.6327	0.68668|0.68668	0.0:0.0:0.8537:0.1462|0.0:0.0:0.8537:0.1462	.|.	.|202;131	.|Q4KMZ8;B7Z5F5	.|NKAI1_HUMAN;.	I|H	146|202;158;131	.|ENSP00000362841:P202H;ENSP00000263693:P158H;ENSP00000381650:P131H	.|ENSP00000263693:P158H	L|P	-|-	1|2	0|0	NKAIN1|NKAIN1	31427303|31427303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.373000|7.373000	0.79623|0.79623	2.463000|2.463000	0.83235|0.83235	0.561000|0.561000	0.74099|0.74099	CTC|CCT		0.642	NKAIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010655.2		NM_024522	
OGDH	4967	hgsc.bcm.edu;ucsc.edu	37	7	44687318	44687318	+	Silent	SNP	C	C	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr7:44687318C>A	ENST00000222673.5	+	4	519	c.477C>A	c.(475-477)tcC>tcA	p.S159S	OGDH_ENST00000447398.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Silent_p.S159S|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Silent_p.S159S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	159					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)	ATCTGGACTCCTCCGTGCCCG	0.562																																																	0													120.0	110.0	113.0					7																	44687318		2203	4300	6503	SO:0001819	synonymous_variant	4967			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.477C>A	7.37:g.44687318C>A		Somatic		WXS	SOLID	Phase_I	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			
OR51V1	283111	hgsc.bcm.edu	37	11	5221676	5221676	+	Silent	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:5221676G>C	ENST00000321255.1	-	1	254	c.255C>G	c.(253-255)tcC>tcG	p.S85S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	85					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)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACACAGTGGACAGCCCCA	0.532																																																	0													89.0	75.0	80.0					11																	5221676		2201	4298	6499	SO:0001819	synonymous_variant	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.255C>G	11.37:g.5221676G>C		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000321255.1	37	CCDS31375.1																																																																																				0.532	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1		NM_001004760	
PABPC1	26986	hgsc.bcm.edu	37	8	101727792	101727792	+	Missense_Mutation	SNP	C	C	T	rs201575415		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:101727792C>T	ENST00000318607.5	-	4	1669	c.541G>A	c.(541-543)Gct>Act	p.A181T	PABPC1_ENST00000519004.1_Missense_Mutation_p.A136T|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.A149T	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	181	CSDE1-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CCAAGTTCAGCTTCTCGTTCT	0.348																																																	0													85.0	75.0	78.0					8																	101727792		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.541G>A	8.37:g.101727792C>T	ENSP00000313007:p.Ala181Thr	Somatic		WXS	SOLID	Phase_I	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.98|17.98	3.520874|3.520874	0.64747|0.64747	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596;ENST00000523555	D;D;T|.	0.85629|.	-2.01;-2.01;2.54|.	5.12|5.12	5.12|5.12	0.69794|0.69794	Nucleotide-binding, alpha-beta plait (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|T	0.72637|0.72637	0.3485|0.3485	L|L	0.60845|0.60845	1.875|1.875	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.50443|.	0.803;0.627;0.935|.	P;B;P|.	0.51079|.	0.658;0.253;0.543|.	T|T	0.70457|0.70457	-0.4866|-0.4866	10|5	0.49607|.	T|.	0.09|.	.|.	18.9413|18.9413	0.92607|0.92607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	149;181;181|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	T|N	181;181;136;149|13;127	ENSP00000313007:A181T;ENSP00000429594:A136T;ENSP00000429395:A149T|.	ENSP00000313007:A181T|.	A|S	-|-	1|2	0|0	PABPC1|PABPC1	101796968|101796968	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.980000|5.980000	0.70516|0.70516	2.530000|2.530000	0.85305|0.85305	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.348	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PDE8B	8622	hgsc.bcm.edu	37	5	76703260	76703260	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:76703260C>T	ENST00000264917.5	+	13	1388	c.1343C>T	c.(1342-1344)aCc>aTc	p.T448I	PDE8B_ENST00000333194.4_Missense_Mutation_p.T448I|PDE8B_ENST00000342343.4_Missense_Mutation_p.T428I|PDE8B_ENST00000505283.1_5'Flank|PDE8B_ENST00000346042.3_Missense_Mutation_p.T351I|PDE8B_ENST00000340978.3_Missense_Mutation_p.T401I	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	448					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CACTCCATGACCATCGAGGCT	0.582																																																	0													139.0	94.0	109.0					5																	76703260		2203	4300	6503	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1343C>T	5.37:g.76703260C>T	ENSP00000264917:p.Thr448Ile	Somatic		WXS	SOLID	Phase_I	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882001	0.91740	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.71461	-0.4;-0.53;-0.4;-0.4;-0.57	5.66	5.66	0.87406	.	0.178518	0.37669	N	0.001995	D	0.83880	0.5350	M	0.72894	2.215	0.80722	D	1	P;P;D;P;P	0.76494	0.845;0.92;0.999;0.92;0.87	P;P;D;P;B	0.74023	0.756;0.644;0.982;0.644;0.441	T	0.83216	-0.0071	10	0.48119	T	0.1	.	19.7597	0.96309	0.0:1.0:0.0:0.0	.	351;401;448;428;448	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	I	401;351;448;428;448	ENSP00000345446:T401I;ENSP00000330428:T351I;ENSP00000264917:T448I;ENSP00000345646:T428I;ENSP00000331336:T448I	ENSP00000264917:T448I	T	+	2	0	PDE8B	76739016	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.680000	0.91292	0.655000	0.94253	ACC		0.582	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3		NM_003719	
PDHX	8050	hgsc.bcm.edu	37	11	35016594	35016594	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:35016594C>T	ENST00000227868.4	+	11	1465	c.1381C>T	c.(1381-1383)Ctg>Ttg	p.L461L	PDHX_ENST00000448838.3_Silent_p.L446L|PDHX_ENST00000430469.2_Silent_p.L234L|PDHX_ENST00000477173.3_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	461					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AAATGCCAAACTGCAGCAGCG	0.483																																																	0													126.0	118.0	121.0					11																	35016594		2202	4298	6500	SO:0001819	synonymous_variant	8050			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1381C>T	11.37:g.35016594C>T		Somatic		WXS	SOLID	Phase_I	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	ENST00000227868.4	37	CCDS7896.1																																																																																				0.483	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1		NM_003477	
PHF7	51533	hgsc.bcm.edu	37	3	52454991	52454991	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr3:52454991A>G	ENST00000327906.3	+	7	1146	c.486A>G	c.(484-486)ttA>ttG	p.L162L	PHF7_ENST00000347025.2_Silent_p.L162L	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	162						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GCTGCATCTTATGTTGTGAAG	0.478																																																	0													206.0	185.0	192.0					3																	52454991		2203	4300	6503	SO:0001819	synonymous_variant	51533			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.486A>G	3.37:g.52454991A>G		Somatic		WXS	SOLID	Phase_I	K4DI82	Silent	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	A	1.605	-0.525436	0.04141	.	.	ENSG00000010318	ENST00000454052;ENST00000461861	.	.	.	5.8	-3.0	0.05480	.	.	.	.	.	T	0.67552	0.2905	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71358	-0.4617	5	0.87932	D	0	0.6293	11.6244	0.51136	0.6527:0.0:0.3473:0.0	.	.	.	.	C	127;122	.	ENSP00000399257:Y127C	Y	+	2	0	PHF7	52430031	1.000000	0.71417	0.969000	0.41365	0.259000	0.26198	0.364000	0.20325	-0.395000	0.07715	-1.215000	0.01618	TAT		0.478	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
PIK3R5	23533	hgsc.bcm.edu	37	17	8792003	8792003	+	Silent	SNP	C	C	G	rs9915880	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr17:8792003C>G	ENST00000447110.1	-	10	1225	c.1101G>C	c.(1099-1101)tcG>tcC	p.S367S	PIK3R5_ENST00000581552.1_Silent_p.S367S|PIK3R5_ENST00000584803.1_Silent_p.S367S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	367				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCCGGCCCCGAGGCCTGGG	0.627																																					NSCLC(18;589 615 7696 20311 50332)												0													72.0	75.0	74.0					17																	8792003		2203	4300	6503	SO:0001819	synonymous_variant	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1101G>C	17.37:g.8792003C>G		Somatic		WXS	SOLID	Phase_I	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	CCDS11147.1																																																																																				0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308	
PKDREJ	10343	hgsc.bcm.edu	37	22	46656257	46656257	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr22:46656257T>C	ENST00000253255.5	-	1	2962	c.2963A>G	c.(2962-2964)cAa>cGa	p.Q988R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	988					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCTGTCCACTTGAAAGCTAAA	0.493																																																	0													149.0	142.0	144.0					22																	46656257		2203	4300	6503	SO:0001583	missense	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2963A>G	22.37:g.46656257T>C	ENSP00000253255:p.Gln988Arg	Somatic		WXS	SOLID	Phase_I	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	9.931	1.214904	0.22373	.	.	ENSG00000130943	ENST00000253255	T	0.35236	1.32	5.18	1.52	0.23074	.	0.695000	0.12914	N	0.428701	T	0.19967	0.0480	N	0.22421	0.69	0.09310	N	0.999993	B	0.27068	0.167	B	0.21360	0.034	T	0.21042	-1.0257	10	0.20046	T	0.44	-8.2276	7.145	0.25577	0.2504:0.0:0.1301:0.6195	.	988	Q9NTG1	PKDRE_HUMAN	R	988	ENSP00000253255:Q988R	ENSP00000253255:Q988R	Q	-	2	0	PKDREJ	45034921	0.070000	0.21116	0.768000	0.31515	0.643000	0.38383	1.164000	0.31810	0.346000	0.23899	0.533000	0.62120	CAA		0.493	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071	
POLR1C	9533	hgsc.bcm.edu	37	6	43489006	43489006	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr6:43489006T>G	ENST00000372389.3	+	9	1097	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	POLR1C_ENST00000372344.2_Missense_Mutation_p.L287V|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	337					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCGGCGCTTCTTGGATGAACT	0.537																																																	0													102.0	101.0	101.0					6																	43489006		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.1009T>G	6.37:g.43489006T>G	ENSP00000361465:p.Leu337Val	Somatic		WXS	SOLID	Phase_I	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.561667	0.45590	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344	D;D	0.82619	-1.63;-1.63	5.18	-2.67	0.06059	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.210872	0.39834	N	0.001252	T	0.64746	0.2626	M	0.73962	2.25	0.80722	D	1	B	0.30021	0.265	B	0.33196	0.159	T	0.56232	-0.8013	10	0.18710	T	0.47	-6.4119	7.2809	0.26310	0.1118:0.3672:0.0:0.521	.	337	O15160	RPAC1_HUMAN	V	337;201;287	ENSP00000361465:L337V;ENSP00000361419:L287V	ENSP00000361419:L287V	L	+	1	2	POLR1C	43596984	0.876000	0.30132	0.996000	0.52242	0.912000	0.54170	-0.002000	0.12924	-0.211000	0.10124	-0.256000	0.11100	TTG		0.537	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3		NM_004875	
PRTG	283659	hgsc.bcm.edu	37	15	56032872	56032872	+	Silent	SNP	G	G	A	rs77118243	byFrequency	TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:56032872G>A	ENST00000561292.1	-	2	263	c.105C>T	c.(103-105)tgC>tgT	p.C35C	PRTG_ENST00000389286.4_Silent_p.C35C					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTTCGCTAAAGCACCACACTC	0.403													G|||	80	0.0159744	0.0023	0.0288	5008	,	,		17906	0.0		0.0467	False		,,,				2504	0.0102																0								G		46,3614		0,46,1784	50.0	47.0	48.0		105	3.9	1.0	15	dbSNP_132	48	448,7728		16,416,3656	no	coding-synonymous	PRTG	NM_173814.4		16,462,5440	AA,AG,GG		5.4795,1.2568,4.1737		35/1151	56032872	494,11342	1830	4088	5918	SO:0001819	synonymous_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.105C>T	15.37:g.56032872G>A		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000561292.1	37																																																																																					0.403	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1		NM_173814	
PTPN3	5774	hgsc.bcm.edu	37	9	112151594	112151594	+	Silent	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:112151594G>C	ENST00000374541.2	-	22	2276	c.2172C>G	c.(2170-2172)acC>acG	p.T724T	PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000446349.1_Silent_p.T548T|PTPN3_ENST00000262539.3_Silent_p.T570T|PTPN3_ENST00000412145.1_Silent_p.T593T|PTPN3_ENST00000394827.3_Silent_p.T192T	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	724	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACTGTGCACAGGTATGCGGCA	0.468																																																	0													86.0	77.0	80.0					9																	112151594		2203	4300	6503	SO:0001819	synonymous_variant	5774				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2172C>G	9.37:g.112151594G>C		Somatic		WXS	SOLID	Phase_I	A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	CCDS6776.1																																																																																				0.468	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			
PTPN5	84867	hgsc.bcm.edu	37	11	18751361	18751361	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:18751361C>T	ENST00000358540.2	-	13	1764	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	PTPN5_ENST00000396171.4_Missense_Mutation_p.G445E|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396170.1_Missense_Mutation_p.G413E|PTPN5_ENST00000396168.1_Missense_Mutation_p.G421E|PTPN5_ENST00000396167.2_Missense_Mutation_p.G413E|PTPN5_ENST00000477854.1_Missense_Mutation_p.G249E|PTPN5_ENST00000396166.3_Missense_Mutation_p.G51E	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	445	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTCCTCAGTCCCACTCTGTCG	0.592																																																	0													41.0	51.0	48.0					11																	18751361		2183	4280	6463	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1334G>A	11.37:g.18751361C>T	ENSP00000351342:p.Gly445Glu	Somatic		WXS	SOLID	Phase_I	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930167	0.34096	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396166;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;D;T;T;T;T	0.82344	1.58;1.58;-1.6;1.58;1.58;1.58;1.58	4.26	4.26	0.50523	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.067410	0.56097	D	0.000021	T	0.67534	0.2903	N	0.16790	0.44	0.46849	D	0.999223	B;B	0.31077	0.074;0.307	B;B	0.26693	0.07;0.072	T	0.65315	-0.6198	10	0.23302	T	0.38	.	11.4702	0.50264	0.0:0.9125:0.0:0.0875	.	445;413	P54829;B3KXG7	PTN5_HUMAN;.	E	249;445;51;413;445;413;421	ENSP00000435056:G249E;ENSP00000351342:G445E;ENSP00000379469:G51E;ENSP00000379473:G413E;ENSP00000379474:G445E;ENSP00000379470:G413E;ENSP00000379471:G421E	ENSP00000351342:G445E	G	-	2	0	PTPN5	18707937	0.944000	0.32072	0.982000	0.44146	0.997000	0.91878	1.984000	0.40658	2.210000	0.71456	0.655000	0.94253	GGG		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2		NM_001039970	
RAD23B	5887	hgsc.bcm.edu	37	9	110084347	110084348	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:110084347_110084348delGG	ENST00000358015.3	+	7	1116_1117	c.765_766delGG	c.(763-768)gtggctfs	p.A260fs	RAD23B_ENST00000416373.2_Frame_Shift_Del_p.A188fs	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	260	Poly-Ala.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTTCAGCAGTGGCTGCAGCTGC	0.5								Direct reversal of damage;Nucleotide excision repair (NER)																																									0																																										SO:0001589	frameshift_variant	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.765_766delGG	9.37:g.110084347_110084348delGG	ENSP00000350708:p.Ala260fs	Somatic		WXS	SOLID	Phase_I	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Frame_Shift_Del	DEL	ENST00000358015.3	37	CCDS6769.1																																																																																				0.500	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1		NM_002874	
RAD50	10111	hgsc.bcm.edu	37	5	131927632	131927632	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr5:131927632T>A	ENST00000265335.6	+	11	2086	c.1699T>A	c.(1699-1701)Ttg>Atg	p.L567M	RAD50_ENST00000378823.3_Missense_Mutation_p.L428M			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	567					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACCTCACTGTTGGGATATTT	0.318								Homologous recombination																																									0													80.0	87.0	85.0					5																	131927632		2203	4299	6502	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.1699T>A	5.37:g.131927632T>A	ENSP00000265335:p.Leu567Met	Somatic		WXS	SOLID	Phase_I	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.80|14.80	2.644165|2.644165	0.47258|0.47258	.|.	.|.	ENSG00000113522|ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394|ENST00000434288	T;T;T|.	0.09817|.	3.23;3.47;2.94|.	6.06|6.06	0.842|0.842	0.18927|0.18927	.|.	0.070231|.	0.64402|.	D|.	0.000016|.	T|T	0.41581|0.41581	0.1165|0.1165	L|L	0.38838|0.38838	1.175|1.175	0.45822|0.45822	D|D	0.998698|0.998698	P|.	0.50819|.	0.939|.	B|.	0.40602|.	0.334|.	T|T	0.14615|0.14615	-1.0466|-1.0466	10|5	0.52906|.	T|.	0.07|.	-6.8261|-6.8261	3.7724|3.7724	0.08647|0.08647	0.273:0.3475:0.0:0.3795|0.273:0.3475:0.0:0.3795	.|.	567|.	Q92878|.	RAD50_HUMAN|.	M|D	428;567;506|65	ENSP00000368100:L428M;ENSP00000265335:L567M;ENSP00000400049:L506M|.	ENSP00000265335:L567M|.	L|V	+|+	1|2	2|0	RAD50|RAD50	131955531|131955531	0.297000|0.297000	0.24408|0.24408	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	0.062000|0.062000	0.14389|0.14389	0.189000|0.189000	0.20188|0.20188	-0.274000|-0.274000	0.10170|0.10170	TTG|GTT		0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5		NM_005732	
RALGPS1	9649	hgsc.bcm.edu	37	9	129974994	129974994	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr9:129974994A>C	ENST00000259351.5	+	16	1709	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	RALGPS1_ENST00000373434.1_Missense_Mutation_p.K439T|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.K439T	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	481	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGACAGAAAACACGTAAGT	0.557																																																	0													79.0	64.0	69.0					9																	129974994		2203	4300	6503	SO:0001583	missense	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1442A>C	9.37:g.129974994A>C	ENSP00000259351:p.Lys481Thr	Somatic		WXS	SOLID	Phase_I	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.36|18.36	3.607237|3.607237	0.66558|0.66558	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434|ENST00000438723	T;T;T|.	0.76060|.	1.71;1.64;-0.99|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.153144|.	0.64402|.	D|.	0.000013|.	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.99999|0.99999	P;P;P|.	0.46395|.	0.505;0.877;0.495|.	P;P;B|.	0.49708|.	0.55;0.62;0.371|.	T|T	0.58188|0.58188	-0.7680|-0.7680	10|5	0.56958|.	D|.	0.05|.	.|.	15.0619|15.0619	0.71961|0.71961	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	439;439;481|.	E9PBQ5;Q5JS13-2;Q5JS13|.	.;.;RGPS1_HUMAN|.	T|H	481;439;439|77	ENSP00000259351:K481T;ENSP00000415630:K439T;ENSP00000362533:K439T|.	ENSP00000259351:K481T|.	K|N	+|+	2|1	0|0	RALGPS1|RALGPS1	129014815|129014815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	6.554000|6.554000	0.73923|0.73923	1.953000|1.953000	0.56701|0.56701	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.557	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1		NM_014636	
RBM12B	389677	hgsc.bcm.edu	37	8	94746443	94746443	+	Silent	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:94746443A>C	ENST00000399300.2	-	3	2409	c.2196T>G	c.(2194-2196)cgT>cgG	p.R732R	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	732							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGGTGGCCGACGGAAATGCT	0.647																																																	0													80.0	87.0	85.0					8																	94746443		1885	4103	5988	SO:0001819	synonymous_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2196T>G	8.37:g.94746443A>C		Somatic		WXS	SOLID	Phase_I	A8MYB5	Silent	SNP	ENST00000399300.2	37	CCDS43755.1																																																																																				0.647	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1		NM_203390	
RBM19	9904	hgsc.bcm.edu	37	12	114397159	114397159	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr12:114397159C>T	ENST00000545145.2	-	5	507	c.429G>A	c.(427-429)cgG>cgA	p.R143R	RBM19_ENST00000261741.5_Silent_p.R143R|RBM19_ENST00000392561.3_Silent_p.R143R	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	143					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTGCCTGCGCCCGCCTCTGAT	0.587																																																	0													70.0	71.0	71.0					12																	114397159		2203	4300	6503	SO:0001819	synonymous_variant	9904			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.429G>A	12.37:g.114397159C>T		Somatic		WXS	SOLID	Phase_I	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																				0.587	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1		NM_016196	
RBM38	55544	hgsc.bcm.edu	37	20	55968368	55968368	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr20:55968368C>G	ENST00000356208.5	+	3	570	c.395C>G	c.(394-396)aCc>aGc	p.T132S	RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000371219.2_Missense_Mutation_p.T51S|RBM38_ENST00000440234.2_Intron	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	132					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CTGCACCCCACCTTGATCCAG	0.592																																																	0													139.0	148.0	145.0					20																	55968368		2004	4157	6161	SO:0001583	missense	55544			X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.395C>G	20.37:g.55968368C>G	ENSP00000348538:p.Thr132Ser	Somatic		WXS	SOLID	Phase_I	A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462387	0.63513	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.18657	2.75;2.2	4.81	4.81	0.61882	.	0.172715	0.50627	D	0.000111	T	0.17789	0.0427	L	0.38175	1.15	0.51233	D	0.999912	B	0.17268	0.021	B	0.17098	0.017	T	0.05886	-1.0858	10	0.09590	T	0.72	-0.3411	17.4641	0.87627	0.0:1.0:0.0:0.0	.	132	Q9H0Z9	RBM38_HUMAN	S	132;51	ENSP00000348538:T132S;ENSP00000360263:T51S	ENSP00000345248:T109S	T	+	2	0	RBM38	55401774	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	7.064000	0.76721	2.191000	0.70037	0.655000	0.94253	ACC		0.592	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4		NM_183425	
RRAGC	64121	hgsc.bcm.edu	37	1	39305249	39305249	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:39305249A>G	ENST00000373001.3	-	7	1352	c.1176T>C	c.(1174-1176)aaT>aaC	p.N392N	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GTGGCGTGCCATTGTGTGTCA	0.547																																																	0													155.0	136.0	143.0					1																	39305249		2203	4300	6503	SO:0001819	synonymous_variant	64121			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1176T>C	1.37:g.39305249A>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000373001.3	37	CCDS430.1																																																																																				0.547	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2		NM_022157	
SAMM50	25813	hgsc.bcm.edu;ucsc.edu	37	22	44386258	44386258	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr22:44386258G>A	ENST00000350028.4	+	14	1493	c.1336G>A	c.(1336-1338)Gtc>Atc	p.V446I	SAMM50_ENST00000396202.3_Missense_Mutation_p.V236I	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	446					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATTACTGCGTCCCCATGGG	0.498																																																	0													149.0	111.0	124.0					22																	44386258		2203	4300	6503	SO:0001583	missense	25813			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1336G>A	22.37:g.44386258G>A	ENSP00000345445:p.Val446Ile	Somatic		WXS	SOLID	Phase_I	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	4.430	0.079636	0.08533	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.39997	1.05;1.05	4.87	-3.07	0.05363	Bacterial surface antigen (D15) (1);	0.388882	0.30168	N	0.010253	T	0.18635	0.0447	N	0.16307	0.4	0.28260	N	0.924896	B;B	0.10296	0.003;0.001	B;B	0.15484	0.013;0.003	T	0.26677	-1.0096	10	0.12430	T	0.62	-8.4743	7.4482	0.27223	0.4547:0.0:0.4294:0.1159	.	251;446	B3KUE6;Q9Y512	.;SAM50_HUMAN	I	446;236	ENSP00000345445:V446I;ENSP00000379505:V236I	ENSP00000345445:V446I	V	+	1	0	SAMM50	42717591	0.846000	0.29590	0.942000	0.38095	0.770000	0.43624	0.233000	0.17911	-0.606000	0.05746	-1.068000	0.02270	GTC		0.498	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2		NM_015380	
PNISR	25957	hgsc.bcm.edu;ucsc.edu	37	6	99858629	99858629	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr6:99858629C>T	ENST00000369239.5	-	5	693	c.489G>A	c.(487-489)caG>caA	p.Q163Q	PNISR_ENST00000438806.1_Silent_p.Q163Q|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	163	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GATAGTCAAACTGGTTCACTG	0.408																																																	0													69.0	64.0	66.0					6																	99858629		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.489G>A	6.37:g.99858629C>T		Somatic		WXS	SOLID	Phase_I	A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Silent	SNP	ENST00000369239.5	37	CCDS5043.1																																																																																				0.408	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1		NM_032870	
SFTPD	6441	hgsc.bcm.edu	37	10	81702585	81702585	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr10:81702585C>T	ENST00000372292.3	-	3	290	c.250G>A	c.(250-252)Gtt>Att	p.V84I		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	84	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTGGGCCCAACTGGGCCAGCT	0.572																																																	0													128.0	102.0	110.0					10																	81702585		2203	4300	6503	SO:0001583	missense	6441			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.250G>A	10.37:g.81702585C>T	ENSP00000361366:p.Val84Ile	Somatic		WXS	SOLID	Phase_I	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585482	0.28268	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.93307	-3.2;-3.2	5.82	-0.0975	0.13632	.	0.602176	0.15632	N	0.252319	T	0.80737	0.4680	N	0.04320	-0.23	0.23050	N	0.998374	B	0.09022	0.002	B	0.14578	0.011	T	0.69595	-0.5103	10	0.35671	T	0.21	-2.0884	5.4191	0.16390	0.0:0.2843:0.1587:0.557	.	84	P35247	SFTPD_HUMAN	I	84;97	ENSP00000361366:V84I;ENSP00000394325:V97I	ENSP00000361366:V84I	V	-	1	0	SFTPD	81692565	0.047000	0.20315	0.876000	0.34364	0.619000	0.37552	-0.337000	0.07852	0.056000	0.16144	-0.150000	0.13652	GTT		0.572	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			
SIPA1L1	26037	hgsc.bcm.edu	37	14	72055087	72055087	+	Silent	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:72055087T>C	ENST00000555818.1	+	2	846	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SIPA1L1_ENST00000381232.3_Silent_p.A166A|SIPA1L1_ENST00000358550.2_Silent_p.A166A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	166					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAGAAAAGCTCTTCGCAGAA	0.463																																																	0													69.0	65.0	66.0					14																	72055087		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.498T>C	14.37:g.72055087T>C		Somatic		WXS	SOLID	Phase_I	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.463	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556	
SLC16A5	9121	hgsc.bcm.edu	37	17	73096580	73096580	+	Silent	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr17:73096580C>T	ENST00000450736.2	+	4	1237	c.822C>T	c.(820-822)gcC>gcT	p.A274A	SLC16A5_ENST00000329783.4_Silent_p.A274A|SLC16A5_ENST00000580123.1_Silent_p.A274A|SLC16A5_ENST00000538213.2_Silent_p.A314A			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	274					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCAGGCAGCCCTCCTCATCT	0.607																																																	0													467.0	394.0	419.0					17																	73096580		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.822C>T	17.37:g.73096580C>T		Somatic		WXS	SOLID	Phase_I	B4E288	Silent	SNP	ENST00000450736.2	37	CCDS11713.1																																																																																				0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1		NM_004695	
SPN	6693	hgsc.bcm.edu	37	16	29675507	29675507	+	Missense_Mutation	SNP	C	C	T	rs201256378		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:29675507C>T	ENST00000360121.3	+	2	550	c.458C>T	c.(457-459)aCg>aTg	p.T153M	SPN_ENST00000395389.2_Missense_Mutation_p.T153M	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCTGTTACCACGGCAGCTAGC	0.557																																																	0													85.0	82.0	83.0					16																	29675507		2197	4300	6497	SO:0001583	missense	6693			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.458C>T	16.37:g.29675507C>T	ENSP00000353238:p.Thr153Met	Somatic		WXS	SOLID	Phase_I	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797343	0.16327	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.32515	1.45;1.45;1.45	4.56	-8.43	0.00953	.	2.067910	0.02154	N	0.058257	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.14980	-1.0453	10	0.32370	T	0.25	-0.105	8.5644	0.33531	0.2666:0.5634:0.0:0.1701	.	153	P16150	LEUK_HUMAN	M	153	ENSP00000378787:T153M;ENSP00000412907:T153M;ENSP00000353238:T153M	ENSP00000353238:T153M	T	+	2	0	SPN	29583008	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.486000	0.00455	-1.565000	0.01676	-1.076000	0.02234	ACG		0.557	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			
TMEM198	130612	hgsc.bcm.edu	37	2	220414473	220414473	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:220414473G>A	ENST00000344458.2	+	6	1565	c.980G>A	c.(979-981)gGg>gAg	p.G327E	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.G327E|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	327					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGCAGACCGGGAGCTCCCTG	0.607																																																	0													45.0	51.0	49.0					2																	220414473		2203	4300	6503	SO:0001583	missense	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.980G>A	2.37:g.220414473G>A	ENSP00000343507:p.Gly327Glu	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944978	0.73672	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.369709	0.27319	N	0.019907	T	0.51770	0.1694	L	0.32530	0.975	0.45541	D	0.99849	P	0.39480	0.675	B	0.39771	0.309	T	0.54642	-0.8263	9	0.49607	T	0.09	-16.9535	18.6999	0.91617	0.0:0.0:1.0:0.0	.	327	Q66K66	TM198_HUMAN	E	327	.	ENSP00000343507:G327E	G	+	2	0	TMEM198	220122717	1.000000	0.71417	0.963000	0.40424	0.945000	0.59286	7.332000	0.79203	2.824000	0.97209	0.655000	0.94253	GGG		0.607	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1		NM_001005209	
TMEM39B	55116	hgsc.bcm.edu	37	1	32557363	32557363	+	Silent	SNP	G	G	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr1:32557363G>C	ENST00000336294.5	+	6	824	c.678G>C	c.(676-678)cgG>cgC	p.R226R	TMEM39B_ENST00000373634.4_Silent_p.R27R|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000427288.1_Silent_p.R111R|TMEM39B_ENST00000456834.2_Missense_Mutation_p.G175R	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	226						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGGGCCCCGGGAGGCGGTCA	0.612																																																	0													47.0	47.0	47.0					1																	32557363		2203	4300	6503	SO:0001819	synonymous_variant	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.678G>C	1.37:g.32557363G>C		Somatic		WXS	SOLID	Phase_I	B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Silent	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384498	0.42308	.	.	ENSG00000121775	ENST00000456834	.	.	.	5.43	1.39	0.22231	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21518	-1.0243	4	.	.	.	-22.0014	2.3571	0.04298	0.2737:0.1166:0.4899:0.1198	.	.	.	.	R	175	.	.	G	+	1	0	TMEM39B	32329950	1.000000	0.71417	0.998000	0.56505	0.828000	0.46876	0.545000	0.23268	0.071000	0.16664	-0.140000	0.14226	GGA		0.612	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2		NM_018056	
TRIM34	53840	hgsc.bcm.edu	37	11	5653647	5653647	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr11:5653647A>T	ENST00000514226.1	+	2	423	c.86A>T	c.(85-87)gAc>gTc	p.D29V	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.D29V|TRIM34_ENST00000429814.2_Missense_Mutation_p.D29V|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.D383V|HBG2_ENST00000380259.2_Intron	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	29					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGAGTCTAGACTGTGGCCAC	0.532																																																	0													126.0	113.0	118.0					11																	5653647		2201	4297	6498	SO:0001583	missense	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.86A>T	11.37:g.5653647A>T	ENSP00000422947:p.Asp29Val	Somatic		WXS	SOLID	Phase_I	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680421	0.29872	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	2.83	-3.42	0.04825	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.15522	0.0374	L	0.51422	1.61	0.09310	N	0.999995	P;B;B	0.47841	0.901;0.262;0.432	P;P;B	0.57101	0.813;0.494;0.163	T	0.12091	-1.0561	9	0.87932	D	0	.	9.7054	0.40211	0.7454:0.0:0.2546:0.0	.	29;29;383	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	V	383;29;29;29;383	ENSP00000422947:D29V;ENSP00000402595:D29V;ENSP00000395982:D29V;ENSP00000346916:D383V	ENSP00000402595:D29V	D	+	2	0	TRIM34;TRIM6-TRIM34	5610223	0.000000	0.05858	0.301000	0.25044	0.562000	0.35680	-1.076000	0.03420	-0.881000	0.03992	-0.253000	0.11424	GAC		0.532	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2		NM_001003827	
TTI1	9675	hgsc.bcm.edu;ucsc.edu	37	20	36641536	36641536	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr20:36641536C>T	ENST00000373448.2	-	3	921	c.683G>A	c.(682-684)gGt>gAt	p.G228D	TTI1_ENST00000449821.1_Missense_Mutation_p.G228D|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.G228D	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	228					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AATGCTGTGACCTTGTTTAAA	0.413																																																	0													139.0	136.0	137.0					20																	36641536		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.683G>A	20.37:g.36641536C>T	ENSP00000362547:p.Gly228Asp	Somatic		WXS	SOLID	Phase_I	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609495	0.66558	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.16897	2.31;2.31;2.31	5.45	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41903	0.1179	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.35400	-0.9790	10	0.45353	T	0.12	-32.1288	15.4367	0.75152	0.0:0.8609:0.1391:0.0	.	228	O43156	TTI1_HUMAN	D	228	ENSP00000362547:G228D;ENSP00000362546:G228D;ENSP00000407270:G228D	ENSP00000362546:G228D	G	-	2	0	TTI1	36074950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.127000	0.77210	1.514000	0.48869	0.650000	0.86243	GGT		0.413	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657	
TTLL4	9654	hgsc.bcm.edu;ucsc.edu	37	2	219612071	219612071	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr2:219612071A>G	ENST00000392102.1	+	10	2565	c.2225A>G	c.(2224-2226)aAg>aGg	p.K742R	TTLL4_ENST00000258398.4_Missense_Mutation_p.K742R|TTLL4_ENST00000442769.1_Missense_Mutation_p.K678R|TTLL4_ENST00000457313.1_Missense_Mutation_p.K577R	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	742	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGCTCCCCAAGCGAAGGCCC	0.542																																					GBM(172;1818 2053 15407 20943 49753)												0													115.0	101.0	106.0					2																	219612071		2203	4300	6503	SO:0001583	missense	9654				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2225A>G	2.37:g.219612071A>G	ENSP00000375951:p.Lys742Arg	Somatic		WXS	SOLID	Phase_I	A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	CCDS2422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.76|16.76	3.211734|3.211734	0.58452|0.58452	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000448224	T;T;T;T|.	0.06142|.	3.34;3.34;3.34;3.34|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.125588|.	0.53938|.	D|.	0.000052|.	T|T	0.52108|0.52108	0.1714|0.1714	N|N	0.24115|0.24115	0.695|0.695	0.44736|0.44736	D|D	0.99773|0.99773	B;P;B|.	0.35684|.	0.328;0.515;0.392|.	B;B;B|.	0.39119|.	0.194;0.291;0.238|.	T|T	0.49051|0.49051	-0.8979|-0.8979	10|5	0.36615|.	T|.	0.2|.	.|.	14.7359|14.7359	0.69414|0.69414	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	577;678;742|.	E9PH58;E7EX20;Q14679|.	.;.;TTLL4_HUMAN|.	R|G	577;742;678;742|74	ENSP00000393332:K577R;ENSP00000375951:K742R;ENSP00000396555:K678R;ENSP00000258398:K742R|.	ENSP00000258398:K742R|.	K|S	+|+	2|1	0|0	TTLL4|TTLL4	219320315|219320315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	2.837000|2.837000	0.48191|0.48191	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.542	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1		NM_014640	
UBN1	29855	hgsc.bcm.edu	37	16	4924863	4924863	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr16:4924863A>C	ENST00000396658.4	+	14	3155	c.2452A>C	c.(2452-2454)Acg>Ccg	p.T818P	UBN1_ENST00000545171.1_Missense_Mutation_p.T818P|UBN1_ENST00000590769.1_Missense_Mutation_p.T818P|UBN1_ENST00000262376.6_Missense_Mutation_p.T818P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	818					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAACTTCACGCCCCCATC	0.577																																																	0													71.0	74.0	73.0					16																	4924863		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2452A>C	16.37:g.4924863A>C	ENSP00000379894:p.Thr818Pro	Somatic		WXS	SOLID	Phase_I	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	6.030	0.373900	0.11409	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.08984	3.03;3.03;3.03	5.28	1.73	0.24493	.	0.096973	0.45361	N	0.000364	T	0.05868	0.0153	L	0.29908	0.895	0.33271	D	0.560952	B;B	0.10296	0.001;0.003	B;B	0.09377	0.004;0.002	T	0.20739	-1.0266	10	0.32370	T	0.25	-6.9911	7.8579	0.29493	0.4494:0.4168:0.0:0.1338	.	818;818	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	P	818	ENSP00000262376:T818P;ENSP00000442379:T818P;ENSP00000379894:T818P	ENSP00000262376:T818P	T	+	1	0	UBN1	4864864	0.995000	0.38212	0.236000	0.24074	0.411000	0.31082	1.805000	0.38883	0.106000	0.17784	-0.460000	0.05396	ACG		0.577	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936	
USP6	9098	hgsc.bcm.edu	37	17	5036761	5036761	+	Silent	SNP	A	A	C	rs112535740		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr17:5036761A>C	ENST00000574788.1	+	14	2530	c.300A>C	c.(298-300)ggA>ggC	p.G100G	USP6_ENST00000332776.4_Silent_p.G100G|USP6_ENST00000572429.1_3'UTR|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Silent_p.G100G			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	100	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGTACAAGGGAATTCCCATGA	0.532			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													83.0	96.0	92.0					17																	5036761		2203	4300	6503	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.300A>C	17.37:g.5036761A>C		Somatic		WXS	SOLID	Phase_I	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.532	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1		NM_004505	
ZFYVE26	23503	hgsc.bcm.edu	37	14	68256097	68256097	+	Silent	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr14:68256097A>G	ENST00000347230.4	-	16	3112	c.2974T>C	c.(2974-2976)Ttg>Ctg	p.L992L	ZFYVE26_ENST00000555452.1_Silent_p.L992L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	992					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGTCTCCAAAAGCTGCTTG	0.522																																																	0													68.0	72.0	70.0					14																	68256097		2203	4300	6503	SO:0001819	synonymous_variant	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2974T>C	14.37:g.68256097A>G		Somatic		WXS	SOLID	Phase_I	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	CCDS9788.1																																																																																				0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346	
ZHX3	23051	hgsc.bcm.edu	37	20	39832082	39832082	+	Missense_Mutation	SNP	A	A	G	rs544646402		TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr20:39832082A>G	ENST00000309060.3	-	4	1890	c.1475T>C	c.(1474-1476)cTt>cCt	p.L492P	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.L492P|ZHX3_ENST00000540170.1_Missense_Mutation_p.L492P|ZHX3_ENST00000560361.1_Missense_Mutation_p.L492P|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.L492P|ZHX3_ENST00000432768.2_Missense_Mutation_p.L492P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	492	Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GCTAGCATCAAGGAAGGCTTG	0.502																																																	0													64.0	61.0	62.0					20																	39832082		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1475T>C	20.37:g.39832082A>G	ENSP00000312222:p.Leu492Pro	Somatic		WXS	SOLID	Phase_I	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	A	9.306	1.054369	0.19907	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.37584	1.19;2.59;2.59;2.37;1.19	5.93	5.93	0.95920	Homeodomain-like (1);	0.137428	0.50627	D	0.000112	T	0.28928	0.0718	L	0.36672	1.1	0.58432	D	0.999999	B;B;B	0.29716	0.059;0.255;0.175	B;B;B	0.29942	0.028;0.109;0.054	T	0.08269	-1.0730	10	0.29301	T	0.29	-13.7234	11.4629	0.50221	0.8658:0.0:0.0:0.1342	.	492;492;492	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	P	492;492;492;492;270;492	ENSP00000312222:L492P;ENSP00000362360:L492P;ENSP00000442290:L492P;ENSP00000443783:L492P;ENSP00000415498:L492P	ENSP00000312222:L492P	L	-	2	0	ZHX3	39265496	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	4.941000	0.63540	2.271000	0.75665	0.459000	0.35465	CTT		0.502	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035	
ZNF107	51427	hgsc.bcm.edu	37	7	64168486	64168486	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr7:64168486T>C	ENST00000395391.1	+	4	3179	c.1804T>C	c.(1804-1806)Tat>Cat	p.Y602H	ZNF107_ENST00000344930.3_Missense_Mutation_p.Y602H|ZNF107_ENST00000423627.1_Missense_Mutation_p.Y602H			Q9UII5	ZN107_HUMAN	zinc finger protein 107	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGATAATTTATACTGGAGA	0.333																																																	0																																										SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1804T>C	7.37:g.64168486T>C	ENSP00000378789:p.Tyr602His	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	2.635	-0.285452	0.05605	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.01548	4.78;4.78;4.78	1.27	-0.819	0.10829	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00300	0.0009	N	0.00005	-3.29	0.22811	N	0.998704	B	0.14438	0.01	B	0.12837	0.008	T	0.46857	-0.9161	8	.	.	.	.	5.3634	0.16101	0.0:0.7143:0.0:0.2857	.	602	Q9UII5	ZN107_HUMAN	H	602	ENSP00000343443:Y602H;ENSP00000400037:Y602H;ENSP00000378789:Y602H	.	Y	+	1	0	ZNF107	63805921	0.344000	0.24827	0.558000	0.28319	0.824000	0.46624	1.982000	0.40638	-0.227000	0.09884	0.260000	0.18958	TAT		0.333	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1		NM_016220	
ZNF333	84449	hgsc.bcm.edu	37	19	14829458	14829458	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr19:14829458A>C	ENST00000292530.6	+	12	1410	c.1319A>C	c.(1318-1320)cAc>cCc	p.H440P	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.H331P	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTGATTTTGCACCAGAGAAAC	0.488																																					NSCLC(60;75 1281 16985 25154 29885)												0													58.0	62.0	61.0					19																	14829458		2203	4300	6503	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1319A>C	19.37:g.14829458A>C	ENSP00000292530:p.His440Pro	Somatic		WXS	SOLID	Phase_I	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460386	0.63401	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	D;D	0.86865	-2.18;-2.18	3.34	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94703	0.8291	H	0.96861	3.895	0.36194	D	0.850241	D	0.89917	1.0	D	0.97110	1.0	D	0.94263	0.7504	9	0.87932	D	0	.	7.8731	0.29578	0.7891:0.2108:0.0:0.0	.	440	Q96JL9	ZN333_HUMAN	P	331;440	ENSP00000439749:H331P;ENSP00000292530:H440P	ENSP00000292530:H440P	H	+	2	0	ZNF333	14690458	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.986000	0.88173	0.469000	0.27268	0.477000	0.44152	CAC		0.488	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1		NM_032433	
ZNF710	374655	hgsc.bcm.edu;ucsc.edu	37	15	90616441	90616441	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr15:90616441A>G	ENST00000268154.4	+	3	1848	c.1597A>G	c.(1597-1599)Act>Gct	p.T533A	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACAGAAGCAGACTCTCAAGAC	0.582																																																	0													122.0	110.0	114.0					15																	90616441		2200	4298	6498	SO:0001583	missense	374655			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1597A>G	15.37:g.90616441A>G	ENSP00000268154:p.Thr533Ala	Somatic		WXS	SOLID	Phase_I	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621967	0.87460	.	.	ENSG00000140548	ENST00000268154	T	0.06849	3.25	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.068980	0.07394	N	0.889620	T	0.21921	0.0528	L	0.37507	1.11	0.53688	D	0.99997	D	0.76494	0.999	D	0.81914	0.995	T	0.00258	-1.1871	10	0.41790	T	0.15	-43.1345	12.7445	0.57273	1.0:0.0:0.0:0.0	.	533	Q8N1W2	ZN710_HUMAN	A	533	ENSP00000268154:T533A	ENSP00000268154:T533A	T	+	1	0	ZNF710	88417445	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.139000	0.94554	2.106000	0.64143	0.459000	0.35465	ACT		0.582	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1		NM_198526	
TCEB1	6921	ucsc.edu	37	8	74858969	74858969	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4862-01A-01D-1373-10	TCGA-CZ-4862-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	d6c89ca7-bc39-4554-bcce-e355478d90ff	8f6f7243-65b1-4107-a05b-eaf77af0766a	g.chr8:74858969A>T	ENST00000522337.1	-	5	554	c.235T>A	c.(235-237)Tac>Aac	p.Y79N	TCEB1_ENST00000520242.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000520210.1_Missense_Mutation_p.Y63N|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000519487.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000284811.8_Missense_Mutation_p.Y79N|TCEB1_ENST00000518127.1_Missense_Mutation_p.Y79N|TCEB1_ENST00000523815.1_Missense_Mutation_p.Y79N			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	79					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			CGAACCTTGTACGTAAAATAC	0.418																																						.											0													95.0	77.0	83.0					8																	74858969		2203	4300	6503	SO:0001583	missense	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.235T>A	8.37:g.74858969A>T	ENSP00000429906:p.Tyr79Asn	Somatic		WXS	SOLID	.	E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.194603	0.58017	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.66	4.44	0.53790	BTB/POZ fold (2);	0.000000	0.48286	D	0.000198	T	0.63628	0.2527	H	0.94264	3.515	0.80722	D	1	B	0.26195	0.144	B	0.41646	0.362	T	0.70081	-0.4970	10	0.62326	D	0.03	-1.9844	11.6617	0.51349	0.8673:0.0:0.0:0.1327	.	79	Q15369	ELOC_HUMAN	N	79;63;79;79;79;79;79;79	ENSP00000428334:Y79N;ENSP00000430224:Y63N;ENSP00000428171:Y79N;ENSP00000429596:Y79N;ENSP00000284811:Y79N;ENSP00000429906:Y79N;ENSP00000428074:Y79N;ENSP00000429789:Y79N	ENSP00000284811:Y79N	Y	-	1	0	TCEB1	75021523	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.810000	0.75216	2.157000	0.67596	0.482000	0.46254	TAC		0.418	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1		NM_005648	
