#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
PRAMEF2	65122	broad.mit.edu	37	1	12919840	12919840	+	Missense_Mutation	SNP	T	T	C	rs371798387		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:12919840T>C	ENST00000240189.2	+	3	667	c.580T>C	c.(580-582)Tat>Cat	p.Y194H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	194					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Y194H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAATTAAATATCTCAGAAA	0.383																																					p.Y194H													PRAMEF2,NS,carcinoma,0,1	PRAMEF2	85	1	1	Substitution - Missense(1)	prostate(1)	c.T580C												152.0	167.0	162.0					1																	12919840		2202	4293	6495	SO:0001583	missense	65122	exon3			ATTAAATATCTCA		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.580T>C	1.37:g.12919840T>C	ENSP00000240189:p.Tyr194His		104	0.0096153846	1		95	0.03	3	NM_023014	1	0.00	0		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	T	4.284	0.051818	0.08291	.	.	ENSG00000120952	ENST00000240189	T	0.14516	2.5	0.842	-1.68	0.08212	.	1.116300	0.06718	N	0.774313	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39461	-0.9613	10	0.34782	T	0.22	.	2.8687	0.05610	0.5828:0.0:0.0:0.4172	.	194	O60811	PRAM2_HUMAN	H	194	ENSP00000240189:Y194H	ENSP00000240189:Y194H	Y	+	1	0	PRAMEF2	12842427	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.429000	0.06982	-0.375000	0.07955	0.163000	0.16589	TAT			0.383	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005517.1		NM_023014	
CHCHD3P3	646572	bcgsc.ca	37	1	27527650	27527650	+	IGR	SNP	T	T	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:27527650T>A								SLC9A1 (46249 upstream) : RP11-40H20.4 (27946 downstream)																							TCCCGAAGGATGGCTCTGGTT	0.522																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			GAAGGATGGCTCT																													1.37:g.27527650T>A			73	0	0		56	0.21	12	.	298	0.00	0		RNA	SNP		37																																																																																					0	0.522										
GMEB1	10691	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	29016676	29016676	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:29016676A>G	ENST00000294409.2	+	3	309	c.219A>G	c.(217-219)atA>atG	p.I73M	SCARNA24_ENST00000516968.1_RNA|GMEB1_ENST00000373816.1_Missense_Mutation_p.I63M|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.I63M	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	73					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACACGATACACAAAATTG	0.343																																					p.I73M													.	GMEB1	28		0			c.A219G												69.0	61.0	64.0					1																	29016676		2203	4300	6503	SO:0001583	missense	10691	exon3			CACGATACACAAA	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.219A>G	1.37:g.29016676A>G	ENSP00000294409:p.Ile73Met		147	0	0		127	0.09	12	NM_006582	21	0.24	5	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906599	0.52333	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.56444	0.49;0.49;0.46	5.64	1.66	0.24008	.	0.221208	0.46442	D	0.000293	T	0.27063	0.0663	N	0.08118	0	0.21220	N	0.999753	P;P	0.46512	0.879;0.879	B;B	0.40410	0.328;0.328	T	0.14035	-1.0487	10	0.56958	D	0.05	.	5.8458	0.18665	0.5442:0.2201:0.0:0.2357	.	73;63	Q9Y692;B1AT47	GMEB1_HUMAN;.	M	63;39;63;73	ENSP00000362922:I63M;ENSP00000355186:I63M;ENSP00000294409:I73M	ENSP00000294409:I73M	I	+	3	3	GMEB1	28889263	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	0.190000	0.17057	0.939000	0.37446	0.533000	0.62120	ATA			0.343	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000010333.1		NM_006582	
COL16A1	1307	mdanderson.org	37	1	32156172	32156172	+	Silent	SNP	G	G	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:32156172G>A	ENST00000373672.3	-	21	1956	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	COL16A1_ENST00000373668.3_Silent_p.G480G|COL16A1_ENST00000271069.6_Silent_p.G480G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	480	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCCGAGCTGCCCTGTGGTC	0.622																																					p.G480G	Colon(143;498 1786 21362 25193 36625)												.	.			0			c.C1440T												41.0	45.0	44.0					1																	32156172		1895	4115	6010	SO:0001819	synonymous_variant	1307	exon21			CGAGCTGCCCTGT	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1440C>T	1.37:g.32156172G>A			75	0	0		50	0.06	3	NM_001856	28	0.00	0	Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	CCDS41297.1																																																																																					0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000011057.2		NM_001856	
SLC9C2	284525	mdanderson.org	37	1	173556912	173556912	+	Missense_Mutation	SNP	C	C	T	rs147559775		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:173556912C>T	ENST00000367714.3	-	5	837	c.415G>A	c.(415-417)Gtt>Att	p.V139I	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.V37I	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	139					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AATTTTATAACGACATATCCA	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18418	0.0		0.0	False		,,,				2504	0.0				p.V139I													.	.			0			c.G415A							C	ILE/VAL	0,4406		0,0,2203	104.0	105.0	105.0		415	3.7	0.5	1	dbSNP_134	105	3,8593	3.0+/-9.4	0,3,4295	yes	missense	SLC9A11	NM_178527.3	29	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	139/1125	173556912	3,12999	2203	4298	6501	SO:0001583	missense	284525	exon5			TTATAACGACATA	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.415G>A	1.37:g.173556912C>T	ENSP00000356687:p.Val139Ile		78	0	0		50	0.06	3	NM_178527	0		0	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.38	1.620399	0.28801	0.0	3.49E-4	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15487	2.42;2.42	5.59	3.72	0.42706	Cation/H+ exchanger (1);	0.369555	0.23196	N	0.050855	T	0.04182	0.0116	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	B	0.30495	0.116	T	0.26395	-1.0104	10	0.34782	T	0.22	-19.8344	7.7426	0.28849	0.0:0.8149:0.0:0.1851	.	139	Q5TAH2	S9A11_HUMAN	I	139;37	ENSP00000356687:V139I;ENSP00000445437:V37I	ENSP00000356687:V139I	V	-	1	0	SLC9A11	171823535	0.052000	0.20516	0.456000	0.27044	0.027000	0.11550	1.284000	0.33249	1.372000	0.46190	0.591000	0.81541	GTT	0		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000084205.1		NM_178527	
SLC35F3	148641	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	234040876	234040876	+	Splice_Site	SNP	T	T	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr1:234040876T>C	ENST00000366618.3	+	1	198	c.53T>C	c.(52-54)gTt>gCt	p.V18A		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGCATTGCCGTGTGAGTAGCG	0.692																																					p.V18A													.	.			0			c.T53C												18.0	19.0	18.0					1																	234040876		2149	4210	6359	SO:0001630	splice_region_variant	148641	exon1			TTGCCGTGTGAGT		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.53+1T>C	1.37:g.234040876T>C			40	0	0		35	0.23	8	NM_173508	0		0	Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366618.3	37	CCDS1600.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.305836	0.23736	.	.	ENSG00000183780	ENST00000366618	T	0.40756	1.02	4.3	3.17	0.36434	.	0.935946	0.08789	U	0.893486	T	0.35189	0.0923	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.15809	-1.0424	9	0.72032	D	0.01	0.2056	7.3485	0.26676	0.0:0.104:0.0:0.896	.	18	Q8IY50-2	.	A	18	ENSP00000355577:V18A	ENSP00000355577:V18A	V	+	2	0	SLC35F3	232107499	0.998000	0.40836	0.699000	0.30290	0.104000	0.19210	2.463000	0.45058	0.690000	0.31570	0.363000	0.22086	GTT			0.692	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092579.2		NM_173508	Missense_Mutation
CASC10	399726	mdanderson.org	37	10	21784697	21784697	+	Silent	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr10:21784697G>T	ENST00000377113.5	-	2	690	c.243C>A	c.(241-243)cgC>cgA	p.R81R	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	81																	AGCCAGGGCTGCGGGTTGCGC	0.716											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R81R													.	.			0			c.C243A												26.0	32.0	30.0					10																	21784697		2197	4292	6489	SO:0001819	synonymous_variant	399726	exon2			AGGGCTGCGGGTT	BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 114"""	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.243C>A	10.37:g.21784697G>T			26	0	0	751	21	0.10	2	NM_001010911	0		0	A1L4M3	Silent	SNP	ENST00000377113.5	37	CCDS31163.1																																																																																					0.716	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047130.2		NM_001010911	
HSD17B7P2	158160	broad.mit.edu	37	10	38652034	38652035	+	RNA	INS	-	-	TT	rs576865685|rs371516054		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr10:38652034_38652035insTT	ENST00000494540.1	+	0	413					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		CTGTTTAACTCTTTTTTTGACA	0.347																																					.													.	.			0			.																																											0	.			TTAACTCTTTTTT			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38652039_38652040dupTT			4	0	0		5	0.40	2	.	0		0		RNA	INS	ENST00000494540.1	37																																																																																						0.347	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000047631.2		NR_003086	
HOGA1	112817	mdanderson.org	37	10	99359464	99359464	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr10:99359464G>T	ENST00000370646.4	+	4	857	c.496G>T	c.(496-498)Gtg>Ttg	p.V166L	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	166					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						AATCCCTGTGGTGCTGTACAG	0.617																																					p.V166L													.	.			0			c.G496T												93.0	96.0	95.0					10																	99359464		2203	4300	6503	SO:0001583	missense	112817	exon4			CCTGTGGTGCTGT	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.496G>T	10.37:g.99359464G>T	ENSP00000359680:p.Val166Leu		77	0	0		46	0.07	3	NM_138413	0		0	A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061518	0.55432	.	.	ENSG00000241935	ENST00000370646	D	0.95788	-3.81	5.09	5.09	0.68999	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.90696	0.7081	N	0.20304	0.555	0.58432	D	0.999999	B	0.12630	0.006	B	0.19946	0.027	D	0.87335	0.2327	10	0.51188	T	0.08	-16.529	12.8813	0.58017	0.0785:0.0:0.9214:0.0	.	166	Q86XE5	HOGA1_HUMAN	L	166	ENSP00000359680:V166L	ENSP00000359680:V166L	V	+	1	0	HOGA1	99349454	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.283000	0.65621	2.360000	0.80028	0.650000	0.86243	GTG			0.617	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049726.1		NM_138413	
KCNQ1	3784	mdanderson.org	37	11	2591884	2591884	+	Silent	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:2591884G>T	ENST00000155840.5	+	3	612	c.504G>T	c.(502-504)ggG>ggT	p.G168G	KCNQ1_ENST00000335475.5_Silent_p.G41G	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	168			FG -> W (in LQT1).|G -> R (in LQT1; dbSNP:rs179489). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:9693036}.		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TGTTCTTCGGGACGGAGTACG	0.647																																					p.G168G													.	.			0			c.G504T	GRCh37	CD001501	KCNQ1	D								119.0	97.0	104.0					11																	2591884		2202	4299	6501	SO:0001819	synonymous_variant	3784	exon3			CTTCGGGACGGAG	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.504G>T	11.37:g.2591884G>T			30	0	0		34	0.09	3	NM_000218	4	0.00	0	O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	CCDS7736.1																																																																																					0.647	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000027382.2		NM_000218	
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	46898070	46898070	+	Silent	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:46898070C>T	ENST00000378623.1	-	25	3725	c.3483G>A	c.(3481-3483)ttG>ttA	p.L1161L	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1161					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTGCCACACCAACACTTTCC	0.587																																					p.L1161L													.	.			0			c.G3483A												168.0	146.0	153.0					11																	46898070		2201	4299	6500	SO:0001819	synonymous_variant	4038	exon25			CCACACCAACACT	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3483G>A	11.37:g.46898070C>T			101	0	0		69	0.20	14	NM_002334	33	0.24	8	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																					0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391133.1		NM_002334	
BTBD18	643376	hgsc.bcm.edu	37	11	57509552	57509552	+	IGR	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:57509552C>T	ENST00000436147.3	-	0	2947				C11orf31_ENST00000534355.1_Intron|TMX2-CTNND1_ENST00000528395.1_Intron|RP11-691N7.6_ENST00000531074.1_5'Flank|C11orf31_ENST00000388857.4_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18											endometrium(3)|kidney(1)	4						TCGTGGGTTCCGAAGTATTGT	0.537																																					.													.	.			0			.												31.0	31.0	31.0					11																	57509552		1936	4137	6073	SO:0001628	intergenic_variant	100528016	.			GGGTTCCGAAGTA		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203		11.37:g.57509552C>T			81	0	0		81	0.25	20	.	3	0.33	1		RNA	SNP	ENST00000436147.3	37	CCDS44603.1																																																																																					0.537	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393718.2		NM_001145101	
EHBP1L1	254102	mdanderson.org	37	11	65349378	65349378	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:65349378C>A	ENST00000309295.4	+	9	1500	c.1235C>A	c.(1234-1236)gCt>gAt	p.A412D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	412						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGAGTCAGAGCTGGGGAGGCT	0.567																																					p.A412D													.	.			0			c.C1235A												93.0	110.0	104.0					11																	65349378		2165	4271	6436	SO:0001583	missense	254102	exon9			TCAGAGCTGGGGA	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1235C>A	11.37:g.65349378C>A	ENSP00000312671:p.Ala412Asp		52	0	0		37	0.08	3	NM_001099409	23	0.00	0	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845375|2.845375	0.51164|0.51164	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	T;D|.	0.81821|.	-0.49;-1.54|.	4.33|4.33	0.0192|0.0192	0.14120|0.14120	.|.	0.804401|.	0.10821|.	N|.	0.630452|.	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.36672|0.36672	1.1|1.1	0.33627|0.33627	D|D	0.605499|0.605499	P;P|.	0.35433|.	0.501;0.501|.	B;B|.	0.32289|.	0.109;0.143|.	T|T	0.39292|0.39292	-0.9621|-0.9621	10|5	0.87932|.	D|.	0|.	.|.	0.8192|0.8192	0.01108|0.01108	0.1562:0.3638:0.1711:0.309|0.1562:0.3638:0.1711:0.309	.|.	412;412|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	D|R	412|3	ENSP00000312671:A412D;ENSP00000431996:A412D|.	ENSP00000312671:A412D|.	A|S	+|+	2|3	0|2	EHBP1L1|EHBP1L1	65105954|65105954	0.000000|0.000000	0.05858|0.05858	0.062000|0.062000	0.19696|0.19696	0.083000|0.083000	0.17756|0.17756	0.255000|0.255000	0.18333|0.18333	0.133000|0.133000	0.18654|0.18654	-0.291000|-0.291000	0.09656|0.09656	GCT|AGC			0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390145.1		XM_170658	
ARAP1	116985	mdanderson.org	37	11	72425304	72425304	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:72425304G>T	ENST00000393609.3	-	4	774	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	ARAP1_ENST00000393605.3_5'Flank|ARAP1_ENST00000359373.5_Missense_Mutation_p.S191Y|ARAP1_ENST00000426523.1_De_novo_Start_OutOfFrame|ARAP1_ENST00000334211.8_De_novo_Start_OutOfFrame|ARAP1_ENST00000455638.2_Missense_Mutation_p.S191Y|ARAP1_ENST00000429686.1_De_novo_Start_OutOfFrame	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	191					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGCTCCTCAGACTGTGGCTG	0.612																																					p.S191Y	Ovarian(102;1198 1520 13195 17913 37529)												.	.			0			c.C572A												19.0	23.0	22.0					11																	72425304		1961	4120	6081	SO:0001583	missense	116985	exon4			TCCTCAGACTGTG	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.572C>A	11.37:g.72425304G>T	ENSP00000377233:p.Ser191Tyr		33	0	0		29	0.10	3	NM_001040118	20	0.00	0	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156328	0.09236	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393609	T;T;T	0.12147	2.71;2.71;2.71	4.02	2.14	0.27477	.	1.416890	0.04718	N	0.418908	T	0.07863	0.0197	N	0.08118	0	0.09310	N	0.999995	P;P	0.37276	0.589;0.454	B;B	0.34779	0.189;0.092	T	0.26189	-1.0110	10	0.72032	D	0.01	.	5.8819	0.18860	0.2372:0.0:0.7628:0.0	.	191;191	Q96P48-3;Q96P48	.;ARAP1_HUMAN	Y	191	ENSP00000352332:S191Y;ENSP00000390461:S191Y;ENSP00000377233:S191Y	ENSP00000352332:S191Y	S	-	2	0	ARAP1	72102952	0.432000	0.25554	0.988000	0.46212	0.027000	0.11550	1.290000	0.33319	1.045000	0.40225	-0.448000	0.05591	TCT			0.612	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347428.1		NM_001040118	
CEP164	22897	mdanderson.org	37	11	117267810	117267810	+	Silent	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:117267810G>T	ENST00000278935.3	+	27	3429	c.3282G>T	c.(3280-3282)ctG>ctT	p.L1094L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1094					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GCTCCAGCCTGTCCTCCCACA	0.592																																					p.L1097L													.	.			0			c.G3291T												44.0	38.0	40.0					11																	117267810		2201	4296	6497	SO:0001819	synonymous_variant	22897	exon26			CAGCCTGTCCTCC	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3282G>T	11.37:g.117267810G>T			69	0	0		45	0.07	3	NM_001271933	18	0.00	0	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	CCDS31683.1																																																																																					0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392893.1		NM_014956	
TRIM29	23650	mdanderson.org	37	11	119998158	119998158	+	Silent	SNP	C	C	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr11:119998158C>A	ENST00000341846.5	-	3	1441	c.1020G>T	c.(1018-1020)gtG>gtT	p.V340V	TRIM29_ENST00000541857.1_Silent_p.V73V|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000529044.1_Silent_p.V79V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	340					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCACTTGGTCCACAGCATCCT	0.597																																					p.V340V													.	.			0			c.G1020T												179.0	145.0	157.0					11																	119998158		2199	4295	6494	SO:0001819	synonymous_variant	23650	exon3			TTGGTCCACAGCA	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1020G>T	11.37:g.119998158C>A			96	0	0		47	0.06	3	NM_012101	2	0.00	0	Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	CCDS8428.1																																																																																					0.597	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000277108.2		NM_012101	
ERC1	23085	broad.mit.edu	37	12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000355446.5_Missense_Mutation_p.K692R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89.0	88.0	89.0					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		294	0.0034013605	1		531	0.01	4	NM_178040	24	0.00	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064	
PLEKHG6	55200	mdanderson.org	37	12	6437022	6437022	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:6437022G>T	ENST00000396988.3	+	15	2503	c.2273G>T	c.(2272-2274)cGg>cTg	p.R758L	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R758L|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R726L|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R288L	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	758						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGGAGCCCCGGGACAGCAGG	0.662																																					p.R758L													.	.			0			c.G2273T												9.0	12.0	11.0					12																	6437022		2193	4280	6473	SO:0001583	missense	55200	exon15			AGCCCCGGGACAG	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2273G>T	12.37:g.6437022G>T	ENSP00000380185:p.Arg758Leu		22	0	0		39	0.08	3	NM_001144856	130	0.00	0	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	3.647	-0.072297	0.07228	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.63255	0.09;0.09;-0.03	4.74	1.91	0.25777	.	0.711693	0.12674	N	0.448526	T	0.40886	0.1135	N	0.14661	0.345	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.17098	0.017;0.008	T	0.30208	-0.9986	10	0.56958	D	0.05	-0.2527	4.8245	0.13408	0.193:0.1763:0.6307:0.0	.	726;758	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	L	758;758;726;288	ENSP00000011684:R758L;ENSP00000380185:R758L;ENSP00000393194:R726L	ENSP00000011684:R758L	R	+	2	0	PLEKHG6	6307283	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.027000	0.13621	0.232000	0.21100	-0.263000	0.10527	CGG			0.662	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399031.1		NM_018173	
CLSTN3	9746	broad.mit.edu	37	12	7281645	7281674	+	5'Flank	DEL	TTCCTGAGGAAGGAACCTGGAGCAGGATCC	TTCCTGAGGAAGGAACCTGGAGCAGGATCC	-	rs148894272|rs6144602|rs552263970		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	TTCCTGAGGAAGGAACCTGGAGCAGGATCC	TTCCTGAGGAAGGAACCTGGAGCAGGATCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:7281645_7281674delTTCCTGAGGAAGGAACCTGGAGCAGGATCC	ENST00000266546.6	+	0	0				RBP5_ENST00000542370.1_5'Flank|RP11-273B20.1_ENST00000544657.1_RNA|RBP5_ENST00000266560.3_5'Flank|RP11-273B20.1_ENST00000538062.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCTTGGCTTTTCCTGAGGAAGGAACCTGGAGCAGGATCCTTCCTGAGGA	0.57														5008	1.0	1.0	1.0	5008	,	,		18442	1.0		1.0	False		,,,				2504	1.0				.													.	RBP5	20		0			.																																									SO:0001631	upstream_gene_variant	0	.			TGGCTTTTCCTGA	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167		12.37:g.7281645_7281674delTTCCTGAGGAAGGAACCTGGAGCAGGATCC	Exception_encountered		5	0	0		11	0.36	4	.	0		0	D3DUT6|O94831|Q2T9J5|Q5UE57	RNA	DEL	ENST00000266546.6	37	CCDS8575.1																																																																																					0.570	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398560.2		NM_014718	
DUSP16	80824	broad.mit.edu	37	12	12630662	12630662	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:12630662G>T	ENST00000228862.2	-	7	1734	c.1103C>A	c.(1102-1104)cCg>cAg	p.P368Q	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'Flank	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	368					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.P368L(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TAACAGCGACGGCTgcacgct	0.642																																					p.P368Q	Ovarian(158;443 1896 15437 36069 46477)												DUSP16,NS,carcinoma,0,1	DUSP16	64	1	1	Substitution - Missense(1)	large_intestine(1)	c.C1103A												39.0	41.0	40.0					12																	12630662		2203	4300	6503	SO:0001583	missense	80824	exon7			AGCGACGGCTGCA	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.1103C>A	12.37:g.12630662G>T	ENSP00000228862:p.Pro368Gln		71	0	0		130	0.02	3	NM_030640	121	0.00	0	Q547C7|Q96QS2|Q9C0G3	Missense_Mutation	SNP	ENST00000228862.2	37	CCDS8650.1	.	.	.	.	.	.	.	.	.	.	G	6.896	0.534763	0.13188	.	.	ENSG00000111266	ENST00000228862	T	0.02301	4.35	5.58	3.4	0.38934	.	0.345176	0.25726	N	0.028701	T	0.01320	0.0043	N	0.08118	0	0.22185	N	0.999307	B;B	0.34313	0.389;0.448	B;B	0.25140	0.039;0.058	T	0.50541	-0.8816	10	0.66056	D	0.02	.	9.162	0.37028	0.1283:0.0:0.7268:0.145	.	368;368	Q9BY84;Q96N49	DUS16_HUMAN;.	Q	368	ENSP00000228862:P368Q	ENSP00000228862:P368Q	P	-	2	0	DUSP16	12521929	0.911000	0.30947	0.933000	0.37362	0.119000	0.20118	0.805000	0.27112	1.335000	0.45486	0.563000	0.77884	CCG			0.642	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000400311.1		NM_030640	
RP1-288H2.2	0	broad.mit.edu	37	12	52493869	52493869	+	RNA	DEL	C	C	-	rs34419454	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:52493869delC	ENST00000547538.1	-	0	139				OR7E47P_ENST00000546390.1_RNA																							atgatcctctccccccccgga	0.433													|||unknown(ALL_OTHER_Ns)	1771	0.353634	0.1762	0.487	5008	,	,		17194	0.5327		0.3032	False		,,,				2504	0.3661				.													.	.			0			.																																											0	.			TCCTCTCCCCCCC																													12.37:g.52493869delC			5	0	0		6	0.33	2	.	0		0		RNA	DEL	ENST00000547538.1	37																																																																																						0.433	RP1-288H2.2-001	PUTATIVE	basic	processed_transcript	processed_transcript		OTTHUMT00000405073.1			
LOC101927592	101927592	broad.mit.edu	37	12	127445885	127445886	+	lincRNA	INS	-	-	C	rs56291813|rs397728627	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr12:127445885_127445886insC	ENST00000512624.2	-	0	685																											ccagccaaattccccccagcct	0.604													?|CCCCCC|CCCCCCC|unsure	155	0.0309505	0.0015	0.0274	5008	,	,		14699	0.001		0.0775	False		,,,				2504	0.0562				.													.	.			0			.																																											0	.			CCAAATTCCCCCC																													12.37:g.127445891_127445891dupC			11	0	0		6	0.33	2	.	0		0		RNA	INS	ENST00000512624.2	37																																																																																						0.604	RP11-575F12.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000399788.1			
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																					.													.	.			0			.																																											0	.			ATAATAAAGTTCA																													14.37:g.19857036A>G			60	0.0166666667	1		47	0.09	4	.	3	0.33	1		RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000409408.1			
TCL6	27004	mdanderson.org	37	14	96137740	96137740	+	RNA	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr14:96137740G>T	ENST00000467865.1	+	0	2097				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ccaggactgtgccagcacaaa	0.468			T	TRA@	T-ALL																																.				Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	.	.			0			.												38.0	37.0	37.0					14																	96137740		2203	4300	6503			27004	.			GACTGTGCCAGCA	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96137740G>T			42	0	0		47	0.06	3	.	0		0		RNA	SNP	ENST00000467865.1	37																																																																																						0.468	TCL6-009	KNOWN	basic	lincRNA	processed_transcript		OTTHUMT00000315133.1		NM_012468	
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																					.													.	.			0			.																																											0	.			TTCTAACGTGACA																													15.37:g.22332432C>T			45	0.0222222222	1		37	0.11	4	.	0		0		RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping		OTTHUMT00000417625.1			
LOC101927079	101927079	broad.mit.edu	37	15	22332442	22332442	+	RNA	SNP	C	C	T	rs575019353	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr15:22332442C>T	ENST00000558896.1	+	0	249																											CGTGACAGAACTTGTTCTTCT	0.353													.|||	16	0.00319489	0.0038	0.0014	5008	,	,		29766	0.0		0.005	False		,,,				2504	0.0051				.													.	.			0			.																																											0	.			ACAGAACTTGTTC																													15.37:g.22332442C>T			50	0.02	1		40	0.10	4	.	0		0		RNA	SNP	ENST00000558896.1	37																																																																																						0.353	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping		OTTHUMT00000417625.1			
CASC5	57082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	40933157	40933157	+	Silent	SNP	A	A	G			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr15:40933157A>G	ENST00000346991.5	+	15	6198	c.5808A>G	c.(5806-5808)caA>caG	p.Q1936Q	CTD-2339L15.3_ENST00000559841.1_RNA|CASC5_ENST00000399668.2_Silent_p.Q1910Q			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1936	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGTTAAGTCAATATGTTTACC	0.363																																					p.Q1936Q													.	.			0			c.A5808G												156.0	148.0	150.0					15																	40933157		1815	4083	5898	SO:0001819	synonymous_variant	57082	exon15			AAGTCAATATGTT	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5808A>G	15.37:g.40933157A>G			61	0	0		53	0.25	13	NM_170589	9	0.56	5	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640387	0.29157	.	.	ENSG00000137812	ENST00000532406	.	.	.	4.85	-6.88	0.01665	.	.	.	.	.	T	0.62551	0.2437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66559	-0.5893	4	.	.	.	.	15.6353	0.76946	0.8727:0.0:0.1273:0.0	.	.	.	.	S	84	.	.	N	+	2	0	CASC5	38720449	0.247000	0.23920	0.937000	0.37676	0.986000	0.74619	-1.112000	0.03299	-1.191000	0.02695	-0.478000	0.04885	AAT			0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390224.2		NM_144508	
ZNF598	90850	mdanderson.org	37	16	2049632	2049632	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr16:2049632G>T	ENST00000563630.1	-	9	1995	c.1753C>A	c.(1753-1755)Ccg>Acg	p.P585T	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.P585T|ZNF598_ENST00000431526.1_Missense_Mutation_p.P640T			Q86UK7	ZN598_HUMAN	zinc finger protein 598	640							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCAGGGGCCGGGCCCTCCATG	0.711																																					p.P640T													ZNF598,NS,carcinoma,+1,1	ZNF598	1	1	0			c.C1918A												15.0	18.0	17.0					16																	2049632		1811	3993	5804	SO:0001583	missense	90850	exon11			GGGCCGGGCCCTC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1753C>A	16.37:g.2049632G>T	ENSP00000455882:p.Pro585Thr		28	0	0		16	0.19	3	NM_178167	110	0.00	0	Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37		.	.	.	.	.	.	.	.	.	.	.	2.156	-0.393354	0.04899	.	.	ENSG00000167962	ENST00000431526	T	0.16897	2.31	4.67	-4.09	0.03951	.	0.795844	0.11646	N	0.543311	T	0.09202	0.0227	L	0.48362	1.52	0.09310	N	1	B;B	0.17667	0.023;0.002	B;B	0.13407	0.009;0.005	T	0.41342	-0.9514	10	0.14656	T	0.56	-0.0653	0.1157	0.00060	0.287:0.1867:0.253:0.2734	.	640;632	Q86UK7;Q86UK7-2	ZN598_HUMAN;.	T	640	ENSP00000411409:P640T	ENSP00000411409:P640T	P	-	1	0	ZNF598	1989633	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.701000	0.05075	-0.303000	0.08856	-0.181000	0.13052	CCG			0.711	ZNF598-001	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000434439.1		NM_178167	
ZP2	7783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	21209141	21209141	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr16:21209141C>T	ENST00000574002.1	-	19	2523	c.2041G>A	c.(2041-2043)Ggg>Agg	p.G681R	ZP2_ENST00000219593.4_Missense_Mutation_p.G681R|ZP2_ENST00000574091.1_Missense_Mutation_p.G672R|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	681					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCACTGCTCCCACTTGCTTTT	0.478																																					p.G681R													.	.			0			c.G2041A												190.0	155.0	167.0					16																	21209141		2200	4300	6500	SO:0001583	missense	7783	exon18			TGCTCCCACTTGC	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2041G>A	16.37:g.21209141C>T	ENSP00000460971:p.Gly681Arg		245	0	0		239	0.15	36	NM_003460	1	0.00	0	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749224	0.30955	.	.	ENSG00000103310	ENST00000219593	T	0.76709	-1.04	4.26	3.31	0.37934	.	3.380490	0.00990	N	0.003506	T	0.54663	0.1872	N	0.08118	0	0.09310	N	1	P;B	0.43633	0.813;0.266	B;B	0.33454	0.164;0.071	T	0.57700	-0.7766	10	0.07175	T	0.84	15.1372	8.0549	0.30600	0.0:0.891:0.0:0.109	.	672;681	Q4VAP1;Q05996	.;ZP2_HUMAN	R	681	ENSP00000219593:G681R	ENSP00000219593:G681R	G	-	1	0	ZP2	21116642	0.012000	0.17670	0.107000	0.21349	0.233000	0.25261	0.495000	0.22483	1.387000	0.46486	0.563000	0.77884	GGG			0.478	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000207365.2			
ZNF423	23090	mdanderson.org	37	16	49670954	49670954	+	Silent	SNP	C	C	A	rs143934881	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr16:49670954C>A	ENST00000561648.1	-	4	2162	c.2109G>T	c.(2107-2109)tcG>tcT	p.S703S	ZNF423_ENST00000535559.1_Silent_p.S586S|ZNF423_ENST00000562520.1_Silent_p.S643S|ZNF423_ENST00000262383.2_Silent_p.S703S|ZNF423_ENST00000562871.1_Silent_p.S643S|ZNF423_ENST00000567169.1_Silent_p.S586S|ZNF423_ENST00000563137.2_Silent_p.S643S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	703					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCATCCACCGAGGAAAATT	0.552																																					p.S703S													.	.			0			c.G2109T												99.0	98.0	98.0					16																	49670954		2198	4300	6498	SO:0001819	synonymous_variant	23090	exon4			ATCCACCGAGGAA	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2109G>T	16.37:g.49670954C>A			67	0	0		49	0.06	3	NM_015069	13	0.00	0	O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	CCDS32445.1																																																																																					0.552	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000423258.1		NM_015069	
CLUH	23277	mdanderson.org	37	17	2595133	2595133	+	Silent	SNP	G	G	A	rs149829712	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:2595133G>A	ENST00000570628.2	-	24	3699	c.3594C>T	c.(3592-3594)acC>acT	p.T1198T	CLUH_ENST00000538975.1_Silent_p.T1198T|RP11-74E22.6_ENST00000608984.1_lincRNA|CLUH_ENST00000435359.1_Silent_p.T1198T			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1198					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CGGCCTGCTGGGTCAGGCACT	0.692																																					p.T1198T													.	.			0			c.C3594T												21.0	23.0	23.0					17																	2595133		2050	4169	6219	SO:0001819	synonymous_variant	23277	exon24			CTGCTGGGTCAGG	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3594C>T	17.37:g.2595133G>A			21	0	0		24	0.17	4	NM_015229	324	0.17	55	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	CCDS45572.1																																																																																					0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437807.2		NM_015229	
USP6	9098	mdanderson.org	37	17	5037263	5037263	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:5037263G>T	ENST00000574788.1	+	15	2696	c.466G>T	c.(466-468)Gtc>Ttc	p.V156F	USP6_ENST00000332776.4_Missense_Mutation_p.V156F|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V156F			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	156	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						CCGGAACCATGTCTTCTTTAG	0.567			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.V156F				Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.			0			c.G466T												180.0	140.0	153.0					17																	5037263		2203	4300	6503	SO:0001583	missense	9098	exon7			AACCATGTCTTCT	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.466G>T	17.37:g.5037263G>T	ENSP00000460380:p.Val156Phe		55	0	0		37	0.08	3	NM_004505	3	0.00	0	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498411	0.44455	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.31510	1.49;1.49	0.862	-0.584	0.11702	Rab-GAP/TBC domain (4);	0.042490	0.85682	D	0.000000	T	0.25680	0.0625	L	0.38175	1.15	0.80722	D	1	D;P	0.59357	0.985;0.956	P;B	0.51866	0.682;0.414	T	0.10154	-1.0642	10	0.72032	D	0.01	.	2.6311	0.04945	0.4852:0.0:0.5148:0.0	.	156;156	B9A6N0;P35125	.;UBP6_HUMAN	F	156	ENSP00000328010:V156F;ENSP00000250066:V156F	ENSP00000250066:V156F	V	+	1	0	USP6	4977987	1.000000	0.71417	0.053000	0.19242	0.054000	0.15201	1.927000	0.40094	0.132000	0.18615	0.134000	0.15878	GTC			0.567	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438990.1		NM_004505	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		181	0.0718232044	13		173	0.03	6	NM_145301	31	0.42	13	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2	rescued with RNA-seq	NM_145301	
CDC27	996	mdanderson.org	37	17	45234372	45234372	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:45234372C>T	ENST00000066544.3	-	7	842	c.749G>A	c.(748-750)gGa>gAa	p.G250E	CDC27_ENST00000531206.1_Missense_Mutation_p.G250E|CDC27_ENST00000446365.2_Missense_Mutation_p.G189E|CDC27_ENST00000527547.1_Missense_Mutation_p.G250E|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATGGAAGTTCCTGTTCCCAG	0.383																																					p.G250E													.	.			0			c.G749A												54.0	59.0	58.0					17																	45234372		2195	4295	6490	SO:0001583	missense	996	exon7			GAAGTTCCTGTTC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.749G>A	17.37:g.45234372C>T	ENSP00000066544:p.Gly250Glu		53	0.0188679245	1		55	0.05	3	NM_001114091	19	0.00	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012896	0.54468	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.19;-0.23;0.08;-0.19;0.95	5.44	5.44	0.79542	.	0.058397	0.64402	D	0.000002	T	0.50531	0.1621	N	0.19112	0.55	0.50632	D	0.999885	P;B;B;B	0.34462	0.454;0.435;0.403;0.207	B;B;B;B	0.33799	0.057;0.058;0.17;0.016	T	0.49041	-0.8980	10	0.10111	T	0.7	-23.0399	16.7505	0.85484	0.0:1.0:0.0:0.0	.	189;250;250;250	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	250;250;189;250;250	ENSP00000066544:G250E;ENSP00000434614:G250E;ENSP00000392802:G189E;ENSP00000437339:G250E;ENSP00000432105:G250E	ENSP00000066544:G250E	G	-	2	0	CDC27	42589371	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.600000	0.67599	2.555000	0.86185	0.460000	0.39030	GGA			0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2			
CDC27	996	mdanderson.org	37	17	45234397	45234397	+	Missense_Mutation	SNP	G	G	A	rs7350908		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:45234397G>A	ENST00000066544.3	-	7	817	c.724C>T	c.(724-726)Cct>Tct	p.P242S	CDC27_ENST00000531206.1_Missense_Mutation_p.P242S|CDC27_ENST00000446365.2_Missense_Mutation_p.P181S|CDC27_ENST00000527547.1_Missense_Mutation_p.P242S|CDC27_ENST00000528748.1_5'Flank	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACAGTATCAGGTGAAATTACA	0.363																																					p.P242S													.	.			0			c.C724T												44.0	48.0	47.0					17																	45234397		2191	4293	6484	SO:0001583	missense	996	exon7			TATCAGGTGAAAT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.724C>T	17.37:g.45234397G>A	ENSP00000066544:p.Pro242Ser		53	0.0188679245	1		44	0.07	3	NM_001114091	19	0.00	0	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407694	0.42715	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67523	-0.26;-0.27;0.01;-0.27;0.49	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.26195	0.0;0.014;0.0;0.144	B;B;B;B	0.20955	0.001;0.008;0.001;0.032	T	0.50004	-0.8878	10	0.06099	T	0.92	-16.7932	16.7505	0.85484	0.0:0.0:1.0:0.0	rs7350908;rs52796638;rs7350908	181;242;242;242	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	242;242;181;242;242	ENSP00000066544:P242S;ENSP00000434614:P242S;ENSP00000392802:P181S;ENSP00000437339:P242S;ENSP00000432105:P242S	ENSP00000066544:P242S	P	-	1	0	CDC27	42589396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.436000	0.80404	2.555000	0.86185	0.460000	0.39030	CCT			0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2			
BZRAP1	9256	mdanderson.org	37	17	56387455	56387455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr17:56387455G>T	ENST00000343736.4	-	21	3927	c.3764C>A	c.(3763-3765)tCa>tAa	p.S1255*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.S1255*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.S1195*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1255						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACAGGTCTGAGTTGCGGCC	0.577																																					p.S1255X													.	.			0			c.C3764A												75.0	68.0	71.0					17																	56387455		2203	4300	6503	SO:0001587	stop_gained	9256	exon21			AGGTCTGAGTTGC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3764C>A	17.37:g.56387455G>T	ENSP00000345824:p.Ser1255*		42	0	0		32	0.09	3	NM_001261835	7	0.00	0	O75111|Q8N5W3	Nonsense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	44	10.849905	0.99477	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.94	5.94	0.96194	.	0.065144	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0825	0.86602	0.0:0.0:1.0:0.0	.	.	.	.	X	1255;1255;1195	.	ENSP00000268893:S1195X	S	-	2	0	BZRAP1	53742454	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.294000	0.65687	2.826000	0.97356	0.561000	0.74099	TCA			0.577	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443980.1		NM_004758	
METTL4	64863	ucsc.edu;bcgsc.ca	37	18	2544256	2544256	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr18:2544256G>T	ENST00000574538.1	-	8	1986	c.1211C>A	c.(1210-1212)cCa>cAa	p.P404Q	METTL4_ENST00000319888.6_Intron	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	404					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTTGTGGTCTGGAATGGGGAG	0.353																																					p.P404Q													.	METTL4	40		0			c.C1211A												63.0	64.0	64.0					18																	2544256		2203	4300	6503	SO:0001583	missense	64863	exon8			TGGTCTGGAATGG		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1211C>A	18.37:g.2544256G>T	ENSP00000458290:p.Pro404Gln		61	0	0		31	0.13	4	NM_022840	11	0.00	0	B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	ENST00000574538.1	37	CCDS11826.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374304	0.42105	.	.	ENSG00000101574	ENST00000319888	.	.	.	4.98	4.98	0.66077	.	0.128538	0.53938	D	0.000059	T	0.75280	0.3828	M	0.65320	2	0.52501	D	0.999959	D	0.89917	1.0	D	0.75484	0.986	T	0.69691	-0.5077	9	0.13853	T	0.58	-3.59	18.6101	0.91281	0.0:0.0:1.0:0.0	.	404	Q8N3J2	METL4_HUMAN	Q	404	.	ENSP00000320349:P404Q	P	-	2	0	METTL4	2534256	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.328000	0.59253	2.452000	0.82932	0.585000	0.79938	CCA			0.353	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254326.3		NM_022840	
MIER2	54531	mdanderson.org	37	19	308613	308613	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:308613G>T	ENST00000264819.4	-	12	1172	c.1162C>A	c.(1162-1164)Cgc>Agc	p.R388S	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCCGGGCGCGGACGGCCG	0.716																																					p.R388S													.	.			0			c.C1162A												17.0	25.0	22.0					19																	308613		2200	4292	6492	SO:0001583	missense	54531	exon12			CCGGGCGCGGACG	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1162C>A	19.37:g.308613G>T	ENSP00000264819:p.Arg388Ser		43	0	0		32	0.09	3	NM_017550	100	0.00	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	G	0.304	-0.971801	0.02215	.	.	ENSG00000105556	ENST00000264819	T	0.14640	2.49	3.01	3.01	0.34805	.	3.081050	0.01903	U	0.039315	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.17433	0.018	T	0.23440	-1.0188	10	0.06365	T	0.9	-3.6704	9.6147	0.39685	0.0:0.0:1.0:0.0	.	388	Q8N344	MIER2_HUMAN	S	388	ENSP00000264819:R388S	ENSP00000264819:R388S	R	-	1	0	MIER2	259613	0.597000	0.26874	0.003000	0.11579	0.019000	0.09904	2.601000	0.46249	1.659000	0.50751	0.462000	0.41574	CGC			0.716	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843	
ADAMTS10	81794	broad.mit.edu;ucsc.edu	37	19	8657036	8657036	+	Intron	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:8657036G>T	ENST00000597188.1	-	14	1858				ADAMTS10_ENST00000270328.4_Intron|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.T4K	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10							extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAGGACACTCGTCGGCCCCAT	0.647																																					.													.	ADAMTS10	132		0			.												15.0	17.0	16.0					19																	8657036		2181	4262	6443	SO:0001627	intron_variant	81794	.			ACACTCGTCGGCC	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1588-49C>A	19.37:g.8657036G>T			53	0	0		37	0.11	4	.	0		0	M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1																																																																																					0.647	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460085.3		NM_030957	
BEST2	54831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	12864150	12864150	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:12864150C>A	ENST00000549706.1	+	3	553	c.229C>A	c.(229-231)Cct>Act	p.P77T	BEST2_ENST00000042931.1_Missense_Mutation_p.P77T|BEST2_ENST00000553030.1_Missense_Mutation_p.P77T			Q8NFU1	BEST2_HUMAN	bestrophin 2	77					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAGCCTCATCCCTGTCTCCTT	0.547																																					p.P77T													.	.			0			c.C229A												192.0	183.0	186.0					19																	12864150		2064	4208	6272	SO:0001583	missense	54831	exon2			CTCATCCCTGTCT	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.229C>A	19.37:g.12864150C>A	ENSP00000448310:p.Pro77Thr		114	0	0		92	0.15	14	NM_017682	0		0	Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947125	0.73672	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98978	-5.29;-5.29;-5.29	3.95	3.95	0.45737	.	0.000000	0.64402	D	0.000005	D	0.99474	0.9813	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98106	1.0417	10	0.87932	D	0	-29.7452	15.148	0.72674	0.0:1.0:0.0:0.0	.	77	Q8NFU1	BEST2_HUMAN	T	77	ENSP00000448310:P77T;ENSP00000447203:P77T;ENSP00000042931:P77T	ENSP00000042931:P77T	P	+	1	0	BEST2	12725150	1.000000	0.71417	0.714000	0.30535	0.853000	0.48598	7.704000	0.84595	1.944000	0.56390	0.313000	0.20887	CCT			0.547	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403343.1		NM_017682	
GYS1	2997	mdanderson.org	37	19	49472837	49472837	+	Nonsense_Mutation	SNP	G	G	T	rs137913986		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr19:49472837G>T	ENST00000323798.3	-	16	2118	c.1922C>A	c.(1921-1923)tCg>tAg	p.S641*	GYS1_ENST00000544287.1_Nonsense_Mutation_p.S274*|GYS1_ENST00000541188.1_Nonsense_Mutation_p.S561*|GYS1_ENST00000263276.6_Nonsense_Mutation_p.S577*	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	641					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGGTGGCACCGAGGCTGGCCG	0.687																																					p.S641X													.	.			0			c.C1922A												28.0	16.0	20.0					19																	49472837		2033	3987	6020	SO:0001587	stop_gained	2997	exon16			GGCACCGAGGCTG		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1922C>A	19.37:g.49472837G>T	ENSP00000317904:p.Ser641*		17	0	0		15	0.20	3	NM_002103	51	0.00	0	Q9BTT9	Nonsense_Mutation	SNP	ENST00000323798.3	37	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	41	8.679189	0.98912	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4832	17.7236	0.88359	0.0:0.0:1.0:0.0	.	.	.	.	X	641;577;561;274	.	ENSP00000263276:S577X	S	-	2	0	GYS1	54164649	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	9.139000	0.94554	2.854000	0.98071	0.655000	0.94253	TCG			0.687	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319791.1		NM_002103	
RGPD4	285190	mdanderson.org	37	2	108487774	108487774	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:108487774T>A	ENST00000408999.3	+	20	3391	c.3314T>A	c.(3313-3315)gTa>gAa	p.V1105E	RGPD4_ENST00000354986.4_Missense_Mutation_p.V1105E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1105	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGAGAACAAGTACTAAAAGTG	0.443																																					p.V1105E													.	.			0			c.T3314A												8.0	7.0	7.0					2																	108487774		686	1556	2242	SO:0001583	missense	285190	exon20			AACAAGTACTAAA	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3314T>A	2.37:g.108487774T>A	ENSP00000386810:p.Val1105Glu		37	0	0		23	0.09	2	NM_182588	3	0.00	0	B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	11.39	1.623918	0.28889	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.53206	0.63;0.63	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.73666	0.3616	M	0.92317	3.295	0.30779	N	0.742223	P	0.36660	0.564	P	0.61397	0.888	T	0.73232	-0.4048	9	0.87932	D	0	-24.8075	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1105	Q7Z3J3	RGPD4_HUMAN	E	1105;1105;863	ENSP00000347081:V1105E;ENSP00000386810:V1105E	ENSP00000347081:V1105E	V	+	2	0	RGPD4	107854206	1.000000	0.71417	0.978000	0.43139	0.204000	0.24138	5.993000	0.70616	1.072000	0.40860	0.136000	0.15936	GTA			0.443	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000330096.2		XM_496581	
CCDC115	84317	mdanderson.org	37	2	131098600	131098600	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:131098600C>T	ENST00000259229.2	-	4	534	c.311G>A	c.(310-312)cGc>cAc	p.R104H	IMP4_ENST00000409935.1_5'Flank|CCDC115_ENST00000437688.2_Missense_Mutation_p.R99H|IMP4_ENST00000259239.3_5'Flank|CCDC115_ENST00000409127.1_Missense_Mutation_p.R99H	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	104						endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GGGGCCCTTGCGCCTCCGCAG	0.547																																					p.R104H													CCDC115,NS,carcinoma,0,1	CCDC115	0	1	0			c.G311A												22.0	25.0	24.0					2																	131098600		2203	4300	6503	SO:0001583	missense	84317	exon4			CCCTTGCGCCTCC	AK054693	CCDS2159.1	2q21.1	2010-12-24			ENSG00000136710	ENSG00000136710			28178	protein-coding gene	gene with protein product		613734				21118521	Standard	XM_005263825		Approved	MGC12981, FLJ30131, ccp1	uc002tqy.1	Q96NT0	OTTHUMG00000131631	ENST00000259229.2:c.311G>A	2.37:g.131098600C>T	ENSP00000259229:p.Arg104His		35	0	0		24	0.13	3	NM_032357	163	0.01	1	B4DJ47|Q9BR88	Missense_Mutation	SNP	ENST00000259229.2	37	CCDS2159.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794047	0.31777	.	.	ENSG00000136710	ENST00000259229;ENST00000409127;ENST00000437688	D;D;D	0.95756	-3.8;-3.8;-3.8	3.65	0.808	0.18719	.	0.174567	0.36268	N	0.002693	D	0.96568	0.8880	M	0.82630	2.6	0.28194	N	0.927649	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.973;0.973	D	0.90781	0.4679	10	0.42905	T	0.14	-0.8887	5.3157	0.15854	0.0:0.626:0.1704:0.2036	.	99;104;104;99	B4DJ47;F8WCZ3;Q96NT0;B8ZZ99	.;.;CC115_HUMAN;.	H	104;99;99	ENSP00000259229:R104H;ENSP00000387301:R99H;ENSP00000399756:R99H	ENSP00000259229:R104H	R	-	2	0	CCDC115	130815070	1.000000	0.71417	0.991000	0.47740	0.026000	0.11368	2.544000	0.45761	0.161000	0.19458	-0.882000	0.02950	CGC			0.547	CCDC115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254524.2		NM_032357	
ANKRD30BL	554226	broad.mit.edu	37	2	132919171	132919171	+	Silent	SNP	A	A	G	rs199695856		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:132919171A>G	ENST00000409867.1	-	1	357	c.108T>C	c.(106-108)caT>caC	p.H36H	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	36										endometrium(1)|kidney(3)	4						TGAGATCCCCATGGTGAATCA	0.582																																					.													.	ANKRD30BL	36		0			.																																									SO:0001819	synonymous_variant	554226	.			ATCCCCATGGTGA			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.108T>C	2.37:g.132919171A>G			132	0	0		111	0.05	5	.	2	0.00	0	B8ZZL7	Silent	SNP	ENST00000409867.1	37																																																																																						0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331353.2		NR_027019	
ANKRD30BL	554226	broad.mit.edu	37	2	132919192	132919192	+	Silent	SNP	G	G	A	rs111295191		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:132919192G>A	ENST00000409867.1	-	1	336	c.87C>T	c.(85-87)aaC>aaT	p.N29N	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	29										endometrium(1)|kidney(3)	4						CGTAAGAGTCGTTGTTGGTGT	0.602																																					.													.	ANKRD30BL	36		0			.																																									SO:0001819	synonymous_variant	554226	.			AGAGTCGTTGTTG			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.87C>T	2.37:g.132919192G>A			139	0	0		127	0.03	4	.	3	0.00	0	B8ZZL7	Silent	SNP	ENST00000409867.1	37																																																																																						0.602	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000331353.2		NR_027019	
IFIH1	64135	broad.mit.edu	37	2	163174668	163174668	+	Silent	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:163174668G>T	ENST00000263642.2	-	1	545	c.150C>A	c.(148-150)gtC>gtA	p.V50V	IFIH1_ENST00000421365.2_Silent_p.V50V|GCA_ENST00000429691.2_5'Flank	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	50	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CGGAGGTGGCGACTGTCCTCT	0.582																																					p.V50V													.	IFIH1	102		0			c.C150A												73.0	68.0	70.0					2																	163174668		2203	4300	6503	SO:0001819	synonymous_variant	64135	exon1			GGTGGCGACTGTC	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.150C>A	2.37:g.163174668G>T			86	0	0		95	0.03	3	NM_022168	4	0.00	0	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Silent	SNP	ENST00000263642.2	37	CCDS2217.1																																																																																					0.582	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255078.2		NM_022168	
KCNH7	90134	mdanderson.org	37	2	163253438	163253438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:163253438C>A	ENST00000332142.5	-	11	2524	c.2425G>T	c.(2425-2427)Gga>Tga	p.G809*		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	809					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCATTTCTCCAAATATATCA	0.373																																					p.G809X	GBM(196;1492 2208 17507 24132 45496)												KCNH7,neck,malignant_melanoma,0,1	KCNH7	0	1	0			c.G2425T												55.0	57.0	56.0					2																	163253438		2202	4298	6500	SO:0001587	stop_gained	90134	exon11			TTTCTCCAAATAT	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2425G>T	2.37:g.163253438C>A	ENSP00000331727:p.Gly809*		53	0	0		50	0.06	3	NM_033272	0		0	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Nonsense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	41	8.555287	0.98861	.	.	ENSG00000184611	ENST00000332142	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7712	0.96366	0.0:1.0:0.0:0.0	.	.	.	.	X	809	.	ENSP00000331727:G809X	G	-	1	0	KCNH7	162961684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.677000	0.91161	0.585000	0.79938	GGA			0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255093.1		NM_033272	
TTN	7273	hgsc.bcm.edu	37	2	179415021	179415021	+	Intron	SNP	C	C	G			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:179415021C>G	ENST00000591111.1	-	287	86866				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAGAAATACTATGTATTAG	0.353																																					.													.	.			0			.												30.0	29.0	30.0					2																	179415021		1802	4069	5871	SO:0001627	intron_variant	100302152	.			GAAATACTATGTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86642-21G>C	2.37:g.179415021C>G			40	0	0		40	0.40	16	.	6	0.67	4	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	ENST00000591111.1	37																																																																																						0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000460310.1		NM_133378	
ESPNL	339768	mdanderson.org	37	2	239039967	239039967	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:239039967C>T	ENST00000343063.3	+	9	2875	c.2612C>T	c.(2611-2613)cCg>cTg	p.P871L	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.P503L|ESPNL_ENST00000409169.1_Missense_Mutation_p.P827L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	871										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGCGACCTGCCGGCGGAGGAG	0.667																																					p.P871L													.	.			0			c.C2612T												12.0	11.0	11.0					2																	239039967		2186	4282	6468	SO:0001583	missense	339768	exon9			ACCTGCCGGCGGA	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2612C>T	2.37:g.239039967C>T	ENSP00000339115:p.Pro871Leu		72	0	0		39	0.08	3	NM_194312	0		0	Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.906191	0.52333	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.66099	-0.19;0.91;0.53	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000004	T	0.76343	0.3974	M	0.63843	1.955	0.50467	D	0.999871	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.926	T	0.79729	-0.1681	10	0.87932	D	0	-31.8201	16.4759	0.84132	0.0:1.0:0.0:0.0	.	827;871	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	L	871;827;503	ENSP00000339115:P871L;ENSP00000386577:P827L;ENSP00000386579:P503L	ENSP00000339115:P871L	P	+	2	0	ESPNL	238704706	0.001000	0.12720	0.909000	0.35828	0.144000	0.21451	1.530000	0.36007	2.176000	0.68965	0.460000	0.39030	CCG			0.667	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257164.2		NM_194312	
ATG4B	23192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	242610198	242610198	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr2:242610198G>T	ENST00000404914.3	+	11	1117		c.e11+1		ATG4B_ENST00000474739.2_Splice_Site|ATG4B_ENST00000405546.3_Splice_Site|ATG4B_ENST00000402096.1_Splice_Site|ATG4B_ENST00000396411.3_Splice_Site	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		AGTCAAAAAGGTTTGTAGCCG	0.567																																					.	Melanoma(78;458 1323 6342 12171 39523)												.	.			0			c.1014+1G>T												57.0	57.0	57.0					2																	242610198		1949	4120	6069	SO:0001630	splice_region_variant	23192	exon11			AAAAAGGTTTGTA	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.1014+1G>T	2.37:g.242610198G>T			61	0	0		72	0.19	14	NM_013325	7	0.43	3	B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Splice_Site	SNP	ENST00000404914.3	37	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751599	0.69533	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000428861	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4538	0.94878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG4B	242258871	1.000000	0.71417	0.969000	0.41365	0.865000	0.49528	6.802000	0.75175	2.671000	0.90904	0.655000	0.94253	.			0.567	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322967.3		NM_013325	Intron
CENPB	1059	mdanderson.org	37	20	3766118	3766118	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr20:3766118C>T	ENST00000379751.4	-	1	1219	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	338					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CATGGCCTGGCGGTAGTGGCC	0.687																																					p.R338H													.	.			0			c.G1013A												17.0	15.0	15.0					20																	3766118		2199	4294	6493	SO:0001583	missense	1059	exon1			GCCTGGCGGTAGT	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1013G>A	20.37:g.3766118C>T	ENSP00000369075:p.Arg338His		35	0	0		32	0.09	3	NM_001810	148	0.00	0	Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	17.58	3.425506	0.62733	.	.	ENSG00000125817	ENST00000379751	T	0.62232	0.04	4.04	4.04	0.47022	.	0.000000	0.37095	U	0.002246	T	0.70168	0.3193	L	0.47016	1.485	0.29426	N	0.860195	D	0.89917	1.0	D	0.91635	0.999	T	0.65965	-0.6040	10	0.87932	D	0	-7.2444	9.195	0.37222	0.2171:0.7829:0.0:0.0	.	338	P07199	CENPB_HUMAN	H	338	ENSP00000369075:R338H	ENSP00000369075:R338H	R	-	2	0	CENPB	3714118	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.522000	0.60539	1.801000	0.52704	0.457000	0.33378	CGC			0.687	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077772.2		NM_001810	
CEBPB	1051	mdanderson.org	37	20	48808402	48808402	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr20:48808402C>T	ENST00000303004.3	+	1	1027	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	278	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CAAGATCCGGCGCGAGCGCAA	0.667																																					p.R278C													.	.			0			c.C832T												43.0	42.0	42.0					20																	48808402		2201	4300	6501	SO:0001583	missense	1051	exon1			ATCCGGCGCGAGC	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.832C>T	20.37:g.48808402C>T	ENSP00000305422:p.Arg278Cys		23	0	0		36	0.08	3	NM_005194	174	0.00	0	A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941192	0.73557	.	.	ENSG00000172216	ENST00000303004	T	0.71934	-0.61	3.18	3.18	0.36537	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	U	0.000001	D	0.88695	0.6506	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92614	0.6102	10	0.87932	D	0	-23.022	14.4807	0.67579	0.0:1.0:0.0:0.0	.	278	P17676	CEBPB_HUMAN	C	278	ENSP00000305422:R278C	ENSP00000305422:R278C	R	+	1	0	CEBPB	48241809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.345000	0.52182	1.612000	0.50221	0.313000	0.20887	CGC			0.667	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079672.1		NM_005194	
HSCB	150274	mdanderson.org	37	22	29139966	29139966	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:29139966G>T	ENST00000216027.3	+	2	398	c.333G>T	c.(331-333)caG>caT	p.Q111H	HSCB_ENST00000398941.2_Splice_Site_p.Q111H|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000382578.1_5'Flank|HSCB_ENST00000495977.1_3'UTR|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000544772.1_5'Flank|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000405598.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	111	J.				iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						AGAGGTCTCAGGTAGCTTATT	0.507																																					p.Q111H													.	.			0			c.G333T												115.0	102.0	107.0					22																	29139966		2203	4300	6503	SO:0001630	splice_region_variant	150274	exon2			GTCTCAGGTAGCT	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.333+1G>T	22.37:g.29139966G>T			61	0	0		46	0.07	3	NM_172002	160	0.00	0	Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340979	0.81911	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.43294	0.95;0.95	5.36	5.36	0.76844	Heat shock protein DnaJ, N-terminal (4);	0.491283	0.22869	N	0.054649	T	0.56761	0.2007	M	0.67397	2.05	0.52501	D	0.999955	D	0.65815	0.995	P	0.55824	0.785	T	0.59894	-0.7368	10	0.66056	D	0.02	-14.1333	14.5896	0.68354	0.0:0.0:1.0:0.0	.	111	Q8IWL3	HSC20_HUMAN	H	111	ENSP00000216027:Q111H;ENSP00000381914:Q111H	ENSP00000216027:Q111H	Q	+	3	2	HSCB	27469966	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.859000	0.69539	2.522000	0.85027	0.491000	0.48974	CAG			0.507	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321263.1		NM_172002	Missense_Mutation
PIK3IP1	113791	mdanderson.org	37	22	31679110	31679110	+	Missense_Mutation	SNP	G	G	T	rs2040533	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:31679110G>T	ENST00000215912.5	-	6	935	c.752C>A	c.(751-753)aCc>aAc	p.T251N	PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.T172N	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	251			T -> S (in dbSNP:rs2040533). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						AAGGGGGGTGGTGCCCTCCTG	0.642																																					p.T251N													.	.			0			c.C752A												53.0	40.0	45.0					22																	31679110		2203	4300	6503	SO:0001583	missense	113791	exon6			GGGGTGGTGCCCT	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.752C>A	22.37:g.31679110G>T	ENSP00000215912:p.Thr251Asn		68	0	0		57	0.04	2	NM_052880	47	0.00	0	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	CCDS13893.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.860682	0.00552	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000487265	T;T	0.43688	0.94;0.94	5.67	1.32	0.21799	.	0.557605	0.22422	N	0.060270	T	0.15652	0.0377	N	0.03608	-0.345	0.44302	P	0.00282300000000002	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05835	-1.0861	9	0.48119	T	0.1	-11.371	2.2271	0.03987	0.1251:0.4863:0.1217:0.267	.	172;251	D1MEI0;Q96FE7	.;P3IP1_HUMAN	N	251;229;172	ENSP00000215912:T251N;ENSP00000441361:T172N	ENSP00000215912:T251N	T	-	2	0	PIK3IP1	30009110	0.006000	0.16342	0.473000	0.27253	0.033000	0.12548	0.236000	0.17967	0.357000	0.24183	-0.978000	0.02582	ACC			0.642	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321939.1		NM_052880	
RANGAP1	5905	mdanderson.org	37	22	41660689	41660689	+	Silent	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:41660689G>T	ENST00000455915.2	-	4	1928	c.459C>A	c.(457-459)ggC>ggA	p.G153G	RANGAP1_ENST00000407260.4_Silent_p.G143G|RANGAP1_ENST00000405486.1_Silent_p.G153G|RANGAP1_ENST00000356244.3_Silent_p.G153G			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	153					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAATGCCCATGCCACAGTTGT	0.642																																					p.G153G													.	.			0			c.C459A												85.0	72.0	77.0					22																	41660689		2203	4300	6503	SO:0001819	synonymous_variant	5905	exon5			GCCCATGCCACAG	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.459C>A	22.37:g.41660689G>T			41	0	0		33	0.09	3	NM_002883	412	0.00	1	Q96JJ2	Silent	SNP	ENST00000455915.2	37	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455620	0.26161	.	.	ENSG00000100401	ENST00000446258	.	.	.	5.51	3.37	0.38596	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40346	-0.9568	4	.	.	.	-22.8325	4.1094	0.10052	0.1405:0.1239:0.6081:0.1275	.	.	.	.	N	94	.	.	H	-	1	0	RANGAP1	39990635	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.363000	0.34159	1.317000	0.45149	0.563000	0.77884	CAT			0.642	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320606.1		NM_002883	
PANX2	56666	hgsc.bcm.edu	37	22	50617594	50617595	+	Frame_Shift_Ins	INS	-	-	C	rs376326556		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr22:50617594_50617595insC	ENST00000395842.2	+	3	1922_1923	c.1922_1923insC	c.(1921-1926)ggccccfs	p.GP641fs	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	641					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGGACGGGGGCCCCCGCCTGC	0.678																																					p.G641fs													.	PANX2	69		0			c.1922_1923insC																																									SO:0001589	frameshift_variant	56666	exon3			ACGGGGGCCCCCG		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1927dupC	22.37:g.50617599_50617599dupC	ENSP00000379183:p.Gly641fs		87	0	0		82	0.13	11	NM_052839	26	0.00	0	B7Z684|Q96RD5|Q9UGX8	Frame_Shift_Ins	INS	ENST00000395842.2	37	CCDS14085.2																																																																																					0.678	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075010.3		NM_052839	
CAPN7	23473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	15282061	15282061	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:15282061T>C	ENST00000253693.2	+	13	1742	c.1489T>C	c.(1489-1491)Tgg>Cgg	p.W497R		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	497	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TGTAAAAAACTGGACTCCAGA	0.323																																					p.W497R													.	.			0			c.T1489C												57.0	62.0	61.0					3																	15282061		2202	4300	6502	SO:0001583	missense	23473	exon13			AAAAACTGGACTC	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1489T>C	3.37:g.15282061T>C	ENSP00000253693:p.Trp497Arg		81	0	0		69	0.17	12	NM_014296	13	0.15	2		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.5|25.5	4.642952|4.642952	0.87859|0.87859	.|.	.|.	ENSG00000131375|ENSG00000131375	ENST00000415565|ENST00000253693	.|D	.|0.93488	.|-3.23	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Peptidase C2, calpain, catalytic domain (3);	.|0.061164	.|0.64402	.|D	.|0.000001	D|D	0.97688|0.97688	0.9242|0.9242	H|H	0.95294|0.95294	3.65|3.65	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.81914	.|0.995	D|D	0.98519|0.98519	1.0622|1.0622	5|10	.|0.56958	.|D	.|0.05	-7.067|-7.067	15.7174|15.7174	0.77677|0.77677	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|497	.|Q9Y6W3	.|CAN7_HUMAN	P|R	234|497	.|ENSP00000253693:W497R	.|ENSP00000253693:W497R	L|W	+|+	2|1	0|0	CAPN7|CAPN7	15257065|15257065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.034000|8.034000	0.88864|0.88864	2.178000|2.178000	0.69098|0.69098	0.533000|0.533000	0.62120|0.62120	CTG|TGG			0.323	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252105.2		NM_014296	
DHX30	22907	broad.mit.edu	37	3	47890473	47890473	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:47890473G>T	ENST00000445061.1	+	18	3240	c.2833G>T	c.(2833-2835)Ggc>Tgc	p.G945C	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.G906C|DHX30_ENST00000348968.4_Missense_Mutation_p.G917C|DHX30_ENST00000457607.1_Missense_Mutation_p.G973C	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	945						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGCTGTCGCCGGCTGGGAGGA	0.637																																					p.G945C													.	DHX30	101		0			c.G2833T												51.0	53.0	52.0					3																	47890473		2203	4300	6503	SO:0001583	missense	22907	exon18			GTCGCCGGCTGGG	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2833G>T	3.37:g.47890473G>T	ENSP00000405620:p.Gly945Cys		62	0	0		60	0.05	3	NM_138615	202	0.00	0	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015457	0.75161	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02682	4.2;4.2;4.2;4.2	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	M	0.77103	2.36	0.58432	D	0.999998	D;P	0.89917	1.0;0.825	D;P	0.72075	0.976;0.467	T	0.00262	-1.1867	10	0.59425	D	0.04	.	17.497	0.87720	0.0:0.0:1.0:0.0	.	945;906	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	C	906;945;917;973	ENSP00000392601:G906C;ENSP00000405620:G945C;ENSP00000343442:G917C;ENSP00000394682:G973C	ENSP00000343442:G917C	G	+	1	0	DHX30	47865477	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	7.684000	0.84104	2.362000	0.80069	0.655000	0.94253	GGC			0.637	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257495.2		NM_138615	
MST1R	4486	mdanderson.org	37	3	49940449	49940449	+	Nonsense_Mutation	SNP	G	G	T	rs200307089		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:49940449G>T	ENST00000296474.3	-	1	621	c.594C>A	c.(592-594)taC>taA	p.Y198*	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Nonsense_Mutation_p.Y198*|CTD-2330K9.3_ENST00000419183.1_5'Flank	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	198	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGATGCCACGTAGAAATAGG	0.632																																					p.Y198X													.	.			0			c.C594A												26.0	28.0	27.0					3																	49940449		2203	4300	6503	SO:0001587	stop_gained	4486	exon1			TGCCACGTAGAAA	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.594C>A	3.37:g.49940449G>T	ENSP00000296474:p.Tyr198*		33	0	0		14	0.14	2	NM_001244937	1	0.00	0	B5A944|B5A945|B5A946|B5A947	Nonsense_Mutation	SNP	ENST00000296474.3	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017475	0.75161	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	.	.	.	4.92	-3.19	0.05171	.	0.053755	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-17.5002	11.4951	0.50404	0.6398:0.0:0.3602:0.0	.	.	.	.	X	198	.	ENSP00000296474:Y198X	Y	-	3	2	MST1R	49915453	0.814000	0.29104	0.959000	0.39883	0.987000	0.75469	-0.017000	0.12590	-0.766000	0.04639	-0.258000	0.10820	TAC			0.632	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000345403.1			
RASA2	5922	mdanderson.org	37	3	141205997	141205997	+	Silent	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr3:141205997C>T	ENST00000452898.1	+	1	107	c.72C>T	c.(70-72)ccC>ccT	p.P24P	RASA2_ENST00000286364.3_Silent_p.P24P	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	24	Ala-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						CTGCAGAGCCCGAGGCCGGGG	0.751																																					p.P24P													.	.			0			c.C72T												9.0	10.0	10.0					3																	141205997		2164	4231	6395	SO:0001819	synonymous_variant	5922	exon1			AGAGCCCGAGGCC	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.72C>T	3.37:g.141205997C>T			69	0	0		50	0.06	3	NM_006506	0		0	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Silent	SNP	ENST00000452898.1	37																																																																																						0.751	RASA2-201	KNOWN	basic	protein_coding	protein_coding				NM_006506	
DDX60	55601	broad.mit.edu	37	4	169176947	169176947	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr4:169176947T>C	ENST00000393743.3	-	26	3763	c.3472A>G	c.(3472-3474)Agg>Ggg	p.R1158G	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1158					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTGGGAGGCCTTTTTGTCTCC	0.378																																					p.R1158G													.	DDX60	304		0			c.A3472G												114.0	110.0	112.0					4																	169176947		2203	4300	6503	SO:0001583	missense	55601	exon26			GAGGCCTTTTTGT	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3472A>G	4.37:g.169176947T>C	ENSP00000377344:p.Arg1158Gly		92	0	0		87	0.05	4	NM_017631	13	0.00	0	Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	t	1.982	-0.433915	0.04669	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.42131	0.98	4.9	1.04	0.20106	.	0.397278	0.20884	N	0.083944	T	0.33089	0.0851	M	0.65975	2.015	0.09310	N	1	B	0.31968	0.349	B	0.24006	0.05	T	0.14559	-1.0468	10	0.26408	T	0.33	.	7.9822	0.30190	0.1123:0.0:0.562:0.3257	.	1158	Q8IY21	DDX60_HUMAN	G	1158;250	ENSP00000377344:R1158G	ENSP00000377344:R1158G	R	-	1	2	DDX60	169413522	0.012000	0.17670	0.008000	0.14137	0.043000	0.13939	0.677000	0.25262	0.312000	0.23038	0.378000	0.23410	AGG			0.378	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364622.1		NM_017631	
RAPGEF6	51735	broad.mit.edu;mdanderson.org	37	5	130799747	130799747	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr5:130799747G>T	ENST00000509018.1	-	18	2672	c.2467C>A	c.(2467-2469)Caa>Aaa	p.Q823K	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.Q828K|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.Q873K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Q823K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.Q538K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.Q823K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.Q823K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.Q823K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	823	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.Q873*(1)|p.Q823*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CCATTGAGTTGAATTCTATCA	0.358																																					p.Q828K	Melanoma(168;435 1955 13113 13877 23213)												RAPGEF6_ENST00000509018,face,carcinoma,0,2	RAPGEF6	361	2	2	Substitution - Nonsense(2)	skin(2)	c.C2482A												91.0	90.0	90.0					5																	130799747		2203	4300	6503	SO:0001583	missense	51735	exon19			TGAGTTGAATTCT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2467C>A	5.37:g.130799747G>T	ENSP00000421684:p.Gln823Lys		101	0	0		79	0.06	5	NM_001164387	1	0.00	0	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112566	0.94339	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.93	5.93	0.95920	Ras-association (3);Ras guanine nucleotide exchange factor, domain (1);	0.098975	0.64402	D	0.000001	T	0.43299	0.1241	M	0.67953	2.075	0.80722	D	1	D;P;D;D;D;D;D	0.64830	0.969;0.933;0.961;0.969;0.994;0.984;0.973	P;P;P;P;D;P;P	0.71184	0.9;0.853;0.774;0.867;0.972;0.839;0.898	T	0.04930	-1.0917	10	0.49607	T	0.09	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	823;823;823;538;873;828;823	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	K	823;828;823;823;828;538;823;823;873	ENSP00000421684:Q823K;ENSP00000309298:Q828K;ENSP00000426081:Q823K;ENSP00000296859:Q823K;ENSP00000426910:Q538K;ENSP00000311419:Q823K;ENSP00000425389:Q823K;ENSP00000426948:Q873K	ENSP00000426948:Q873K	Q	-	1	0	RAPGEF6;FNIP1	130827646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.416000	0.97383	2.829000	0.97493	0.644000	0.83932	CAA			0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000370059.1		NM_016340	
CMAHP	8418	broad.mit.edu	37	6	25115177	25115182	+	RNA	DEL	GTTTTT	GTTTTT	-	rs57247838|rs370293600	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	GTTTTT	GTTTTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:25115177_25115182delGTTTTT	ENST00000377989.4	-	0	834							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						TCTTGGTCACGTTTTTGTTTTTAATA	0.345														1522	0.303914	0.7194	0.2118	5008	,	,		18365	0.124		0.1809	False		,,,				2504	0.1196				.													.	CMAHP	6		0			.																																											0	.			GGTCACGTTTTTG			6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25115183_25115188delGTTTTT			18	0	0		25	0.28	7	.	0		0	O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	RNA	DEL	ENST00000377989.4	37																																																																																						0.345	CMAHP-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000043292.2		NR_002174	
HIST1H4G	8369	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	26246971	26246971	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:26246971G>A	ENST00000244537.4	-	1	288	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	79						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCGTCTTGCGCTTGGCGTGC	0.582																																					p.R79C													.	.			0			c.C235T												74.0	62.0	66.0					6																	26246971		2203	4300	6503	SO:0001583	missense	8369	exon1			TCTTGCGCTTGGC	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.235C>T	6.37:g.26246971G>A	ENSP00000244537:p.Arg79Cys		137	0	0		92	0.05	5	NM_003547	0		0		Missense_Mutation	SNP	ENST00000244537.4	37	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	4.660	0.122642	0.08931	.	.	ENSG00000124578	ENST00000244537	T	0.78003	-1.14	3.05	2.02	0.26589	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.54062	0.1835	.	.	.	0.43628	D	0.996013	B	0.33413	0.411	B	0.30572	0.117	T	0.63211	-0.6688	8	0.66056	D	0.02	.	7.8285	0.29328	0.0:0.0:0.5169:0.4831	.	79	Q99525	H4G_HUMAN	C	79	ENSP00000244537:R79C	ENSP00000244537:R79C	R	-	1	0	HIST1H4G	26354950	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.455000	0.44988	1.686000	0.51046	0.391000	0.25812	CGC			0.582	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040107.1		NM_003547	
KCTD20	222658	bcgsc.ca;mdanderson.org	37	6	36446943	36446943	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:36446943G>T	ENST00000373731.2	+	4	871	c.480G>T	c.(478-480)gaG>gaT	p.E160D	KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Missense_Mutation_p.E15D	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	160	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GGCCCAATGAGAAGGGAGAGT	0.448																																					p.E160D													.	KCTD20	37		0			c.G480T												196.0	153.0	168.0					6																	36446943		2203	4300	6503	SO:0001583	missense	222658	exon4			CAATGAGAAGGGA	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.480G>T	6.37:g.36446943G>T	ENSP00000362836:p.Glu160Asp		83	0.0120481928	1		81	0.06	5	NM_173562	14	0.00	0	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573179	0.65765	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	D;D	0.83914	-1.78;-1.78	5.29	1.49	0.22878	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.243209	0.35903	N	0.002906	T	0.45975	0.1369	N	0.17922	0.545	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32613	-0.9900	10	0.30078	T	0.28	-15.3208	2.0581	0.03586	0.2841:0.122:0.4685:0.1253	.	160	Q7Z5Y7	KCD20_HUMAN	D	160;15	ENSP00000362836:E160D;ENSP00000439118:E15D	ENSP00000362836:E160D	E	+	3	2	KCTD20	36554921	0.335000	0.24748	0.996000	0.52242	0.998000	0.95712	-0.332000	0.07904	0.084000	0.17077	0.655000	0.94253	GAG			0.448	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040345.2		NM_173562	
TBC1D32	221322	broad.mit.edu;bcgsc.ca;mdanderson.org	37	6	121562693	121562693	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:121562693G>T	ENST00000398212.2	-	19	2212	c.2163C>A	c.(2161-2163)agC>agA	p.S721R	TBC1D32_ENST00000275159.6_Missense_Mutation_p.S721R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	721					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTTTATGCCTGCTGACCTAAC	0.383																																					p.S721R													.	C6orf170	146		0			c.C2163A												82.0	78.0	79.0					6																	121562693		1901	4129	6030	SO:0001583	missense	221322	exon19			ATGCCTGCTGACC	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2163C>A	6.37:g.121562693G>T	ENSP00000381270:p.Ser721Arg		58	0	0		62	0.08	5	NM_152730	1	0.00	0	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822978	0.32237	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.25250	1.81;1.81	5.62	2.78	0.32641	.	0.317535	0.41001	N	0.000961	T	0.26810	0.0656	M	0.61703	1.905	0.34123	D	0.664356	P;D	0.58620	0.879;0.983	P;P	0.62649	0.55;0.905	T	0.09422	-1.0675	10	0.59425	D	0.04	.	6.9244	0.24405	0.226:0.1433:0.6307:0.0	.	721;721	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	721	ENSP00000275159:S721R;ENSP00000381270:S721R	ENSP00000275159:S721R	S	-	3	2	C6orf170	121604392	0.995000	0.38212	0.477000	0.27303	0.190000	0.23558	0.830000	0.27462	0.815000	0.34398	0.557000	0.71058	AGC			0.383	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380937.2		NM_152730	
PDE10A	10846	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	165809921	165809921	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr6:165809921A>C	ENST00000366882.1	-	15	1430	c.1276T>G	c.(1276-1278)Tgc>Ggc	p.C426G	PDE10A_ENST00000539869.2_Missense_Mutation_p.C436G|PDE10A_ENST00000354448.4_Missense_Mutation_p.C426G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	426					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CGGTAAATGCACTCTGAGTGG	0.413																																					p.C436G	Esophageal Squamous(22;308 615 5753 12038 40624)												.	PDE10A	154		0			c.T1306G												176.0	149.0	158.0					6																	165809921		2203	4300	6503	SO:0001583	missense	10846	exon14			AAATGCACTCTGA	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1276T>G	6.37:g.165809921A>C	ENSP00000355847:p.Cys426Gly		125	0.048	6		120	0.13	16	NM_001130690	0		0	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	A	8.300	0.819729	0.16607	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68903	-0.36;-0.36	5.34	5.34	0.76211	.	0.000000	0.64402	U	0.000004	T	0.67562	0.2906	L	0.51422	1.61	0.80722	D	1	D;B	0.65815	0.995;0.033	D;B	0.72982	0.979;0.002	T	0.64871	-0.6305	10	0.16420	T	0.52	.	15.3211	0.74124	1.0:0.0:0.0:0.0	.	436;426	Q9ULW9;Q9Y233	.;PDE10_HUMAN	G	426;454;436;426;425	ENSP00000355847:C426G;ENSP00000346435:C426G	ENSP00000341187:C436G	C	-	1	0	PDE10A	165729911	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	8.907000	0.92634	2.029000	0.59856	0.528000	0.53228	TGC			0.413	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding		OTTHUMT00000043031.1			
CYTH3	9265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	6204910	6204910	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:6204910G>C	ENST00000350796.3	-	12	1257	c.1121C>G	c.(1120-1122)tCc>tGc	p.S374C	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Missense_Mutation_p.S289C	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	375	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TCACTTGATGGATTTCATCCA	0.647																																					p.S374C													.	.			0			c.C1121G												34.0	36.0	36.0					7																	6204910		2203	4300	6503	SO:0001583	missense	9265	exon12			TTGATGGATTTCA	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1121C>G	7.37:g.6204910G>C	ENSP00000297044:p.Ser374Cys		197	0	0		204	0.12	24	NM_004227	54	0.20	11	A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664755	0.47572	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.76060	-0.99;-0.99	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	L	0.45470	1.425	0.80722	D	1	B;B	0.27166	0.01;0.17	B;B	0.21151	0.014;0.033	T	0.64257	-0.6450	10	0.25106	T	0.35	.	18.7418	0.91775	0.0:0.0:1.0:0.0	.	289;374	B7Z2V9;O43739-2	.;.	C	374;289	ENSP00000297044:S374C;ENSP00000379967:S289C	ENSP00000297044:S374C	S	-	2	0	CYTH3	6171435	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.395000	0.66291	2.518000	0.84900	0.561000	0.74099	TCC			0.647	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207396.2		NM_004227	
FERD3L	222894	hgsc.bcm.edu	37	7	19184768	19184768	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:19184768T>C	ENST00000275461.3	-	1	276	c.218A>G	c.(217-219)gAc>gGc	p.D73G	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	73					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ctcttctccgtccccctggtc	0.647																																					p.D73G													FERD3L,NS,carcinoma,+1,1	FERD3L	1	1	0			c.A218G												65.0	45.0	52.0					7																	19184768		2203	4300	6503	SO:0001583	missense	222894	exon1			TCTCCGTCCCCCT	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.218A>G	7.37:g.19184768T>C	ENSP00000275461:p.Asp73Gly		77	0	0		74	0.04	3	NM_152898	0		0	Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	T	3.543	-0.093274	0.07053	.	.	ENSG00000146618	ENST00000275461	D	0.96685	-4.09	5.05	2.66	0.31614	.	0.521231	0.17355	N	0.177264	D	0.89206	0.6649	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.77354	-0.2619	10	0.20046	T	0.44	.	6.7811	0.23646	0.0:0.1903:0.0:0.8097	.	73	Q96RJ6	FER3L_HUMAN	G	73	ENSP00000275461:D73G	ENSP00000275461:D73G	D	-	2	0	FERD3L	19151293	0.992000	0.36948	0.004000	0.12327	0.214000	0.24535	3.249000	0.51437	0.279000	0.22186	0.528000	0.53228	GAC			0.647	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207627.1			
COL26A1	136227	broad.mit.edu	37	7	101063621	101063624	+	RNA	DEL	GACA	GACA	-	rs71517170|rs34669537	byFrequency	TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	GACA	GACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:101063621_101063624delGACA	ENST00000397927.3	+	0	494				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GTGGGTGTTTGACAGACAGAAGAC	0.529														603	0.120407	0.0287	0.1398	5008	,	,		17743	0.004		0.2704	False		,,,				2504	0.1963				.													.	.			0			.																																											136227	.			GTGTTTGACAGAC	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063625_101063628delGACA			4	0	0		6	0.33	2	.	0		0	Q32M90	RNA	DEL	ENST00000397927.3	37																																																																																						0.529	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000315898.2		NM_133457	
IFRD1	3475	broad.mit.edu;bcgsc.ca	37	7	112115496	112115497	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:112115496_112115497delCT	ENST00000403825.3	+	12	1539_1540	c.1278_1279delCT	c.(1276-1281)aactctfs	p.S427fs	IFRD1_ENST00000535603.1_Frame_Shift_Del_p.S377fs|IFRD1_ENST00000005558.4_Frame_Shift_Del_p.S427fs	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	427					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						ATTTATATAACTCTGCAGCCTT	0.332																																					p.426_427del													.	IFRD1	46		0			c.1278_1279del																																									SO:0001589	frameshift_variant	3475	exon13			ATATAACTCTGCA	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1278_1279delCT	7.37:g.112115498_112115499delCT	ENSP00000384477:p.Ser427fs		46	0	0		41	0.22	9	NM_001007245	287	0.00	0	B7Z5G1|O75234|Q5U013|Q9BVE4	Frame_Shift_Del	DEL	ENST00000403825.3	37	CCDS34736.1																																																																																					0.332	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338700.1		NM_001550	
CCDC136	64753	hgsc.bcm.edu	37	7	128441311	128441311	+	Nonsense_Mutation	SNP	G	G	T	rs200870724		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:128441311G>T	ENST00000297788.4	+	4	785	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E190*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E140*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E190*	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	140	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TAAGGAAATAGAACAGGAATT	0.488																																					p.E190X													NAG6,NS,carcinoma,0,3	NAG6	0	3	0			c.G568T												76.0	77.0	76.0					7																	128441311		1986	4165	6151	SO:0001587	stop_gained	64753	exon5			GAAATAGAACAGG		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.418G>T	7.37:g.128441311G>T	ENSP00000297788:p.Glu140*		45	0	0		75	0.04	3	NM_001201372	16	0.00	0	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Nonsense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.150448|6.150448	0.97329|0.97329	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524|ENST00000494552	.|.	.|.	.|.	5.65|5.65	4.75|4.75	0.60458|0.60458	.|.	0.235049|.	0.44688|.	D|.	0.000431|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.17369|.	T|.	0.5|.	-12.2687|-12.2687	9.3948|9.3948	0.38394|0.38394	0.0:0.1575:0.6791:0.1633|0.0:0.1575:0.6791:0.1633	.|.	.|.	.|.	.|.	X|Y	190;190;140;140;140;140|16	.|.	ENSP00000297788:E140X|.	E|X	+|+	1|3	0|2	CCDC136|CCDC136	128228547|128228547	0.997000|0.997000	0.39634|0.39634	0.963000|0.963000	0.40424|0.40424	0.553000|0.553000	0.35397|0.35397	2.728000|2.728000	0.47319|0.47319	1.359000|1.359000	0.45940|0.45940	0.655000|0.655000	0.94253|0.94253	GAA|TAG			0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000350641.1		NM_022742	
CHPF2	54480	mdanderson.org	37	7	150935131	150935131	+	Silent	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr7:150935131G>T	ENST00000035307.2	+	4	3196	c.1683G>T	c.(1681-1683)ctG>ctT	p.L561L	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Silent_p.L553L|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	561					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGACGAGGCTGGCCTGGCTCG	0.627																																					p.L561L													.	.			0			c.G1683T												34.0	36.0	36.0					7																	150935131		2202	4298	6500	SO:0001819	synonymous_variant	54480	exon4			GAGGCTGGCCTGG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1683G>T	7.37:g.150935131G>T			46	0	0		49	0.06	3	NM_019015	200	0.00	0	B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	ENST00000035307.2	37	CCDS34779.1																																																																																					0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000348648.2		NM_019015	
MYOM2	9172	mdanderson.org	37	8	2000361	2000361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:2000361G>T	ENST00000262113.4	+	3	334	c.193G>T	c.(193-195)Gga>Tga	p.G65*	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	65					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCCCTGGGAGGAACCATCTG	0.582																																					p.G65X													.	.			0			c.G193T												130.0	117.0	122.0					8																	2000361		2203	4300	6503	SO:0001587	stop_gained	9172	exon3			CTGGGAGGAACCA		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.193G>T	8.37:g.2000361G>T	ENSP00000262113:p.Gly65*		83	0	0		52	0.06	3	NM_003970	0		0	Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298425	0.81025	.	.	ENSG00000036448	ENST00000262113	.	.	.	4.71	-0.421	0.12332	.	0.941007	0.08997	N	0.863591	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.7598	0.34667	0.55:0.0:0.45:0.0	.	.	.	.	X	65	.	ENSP00000262113:G65X	G	+	1	0	MYOM2	1987768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.020000	0.13466	-0.028000	0.13850	-0.137000	0.14449	GGA			0.582	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251249.1		NM_003970	
Unknown	0	bcgsc.ca	37	8	73139272	73139272	+	IGR	SNP	G	G	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:73139272G>A								RP11-142A23.1 (24768 upstream) : RNA5SP271 (130690 downstream)																							AGGCCTGCCTGCTCCTTGTTC	0.488																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CTGCCTGCTCCTT																													8.37:g.73139272G>A			33	0	0		38	0.18	7	.	3	0.00	0		RNA	SNP		37																																																																																					0	0.488										
COL14A1	7373	mdanderson.org	37	8	121327809	121327809	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:121327809G>T	ENST00000297848.3	+	39	4859	c.4589G>T	c.(4588-4590)gGc>gTc	p.G1530V	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1530V|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1435V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGAGATACTGGCCTTCCAGGT	0.388																																					p.G1530V													.	.			0			c.G4589T												100.0	116.0	111.0					8																	121327809		2203	4300	6503	SO:0001583	missense	7373	exon39			ATACTGGCCTTCC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4589G>T	8.37:g.121327809G>T	ENSP00000297848:p.Gly1530Val		66	0	0		41	0.07	3	NM_021110	17	0.00	0		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465580	0.63513	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.99637	-6.29;-6.29;-6.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96983	0.9716	10	0.87932	D	0	.	16.714	0.85393	0.0:0.0:1.0:0.0	.	1530	Q05707	COEA1_HUMAN	V	1530;1530;1435	ENSP00000311809:G1530V;ENSP00000297848:G1530V;ENSP00000247781:G1435V	ENSP00000247781:G1435V	G	+	2	0	COL14A1	121396990	1.000000	0.71417	0.174000	0.22961	0.938000	0.57974	6.794000	0.75135	2.616000	0.88540	0.655000	0.94253	GGC			0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110	
PSCA	8000	mdanderson.org	37	8	143762760	143762760	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr8:143762760G>T	ENST00000301258.4	+	2	124	c.41G>T	c.(40-42)tGc>tTc	p.C14F	PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000513264.1_Missense_Mutation_p.C14F	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	23						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCCTGCTGTGCTACTCCTGC	0.672																																					p.C14F													.	.			0			c.G41T												14.0	18.0	17.0					8																	143762760		2032	4156	6188	SO:0001583	missense	8000	exon2			TGCTGTGCTACTC	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.41G>T	8.37:g.143762760G>T	ENSP00000301258:p.Cys14Phe		59	0	0		43	0.07	3	NM_005672	0		0	Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	G	8.098	0.775971	0.16051	.	.	ENSG00000167653	ENST00000301258;ENST00000513264	.	.	.	2.97	2.97	0.34412	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	0.080716	0.49916	D	0.000132	T	0.78027	0.4219	M	0.84948	2.725	0.37972	D	0.933309	D	0.76494	0.999	D	0.87578	0.998	T	0.82504	-0.0424	9	0.87932	D	0	.	9.7139	0.40263	0.0:0.0:1.0:0.0	.	23	O43653	PSCA_HUMAN	F	23	.	ENSP00000301258:C23F	C	+	2	0	PSCA	143759762	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	3.455000	0.52993	1.983000	0.57843	0.456000	0.33151	TGC			0.672	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000367112.2		NM_005672	
Unknown	0	bcgsc.ca	37	9	44059412	44059412	+	IGR	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:44059412G>T								CNTNAP3B (135363 upstream) : RNU6-599P (48400 downstream)																							TTTCATTTCTGAGAATTTACA	0.318																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			ATTTCTGAGAATT																													9.37:g.44059412G>T			43	0	0		16	0.25	4	.	0		0		RNA	SNP		37																																																																																					0	0.318										
ANKRD19P	138649	broad.mit.edu	37	9	95600105	95600105	+	RNA	DEL	T	T	-	rs200546803|rs75973812		TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:95600105delT	ENST00000473204.1	+	0	2103							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											GTTATGGTTATTTTTTTTTTT	0.279																																					.													.	.			0			.																																											0	.			TGGTTATTTTTTT	BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95600105delT			8	0	0		7	0.43	3	.	2	0.00	0	A8K853|Q17RD3	RNA	DEL	ENST00000473204.1	37																																																																																						0.279	ANKRD19P-004	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000053116.3		NR_026868	
WNK2	65268	mdanderson.org	37	9	95997149	95997149	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:95997149G>T	ENST00000297954.4	+	4	1135	c.1135G>T	c.(1135-1137)Gtc>Ttc	p.V379F	WNK2_ENST00000395475.2_Missense_Mutation_p.V365F|WNK2_ENST00000395477.2_Missense_Mutation_p.V379F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_5'UTR|WNK2_ENST00000349097.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	379	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTCCGTGGACGTCTATGCCTT	0.602																																					p.V379F													.	.			0			c.G1135T												138.0	95.0	110.0					9																	95997149		2203	4300	6503	SO:0001583	missense	65268	exon4			GTGGACGTCTATG	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1135G>T	9.37:g.95997149G>T	ENSP00000297954:p.Val379Phe		90	0	0		69	0.06	4	NM_006648	6	0.00	0	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37		.	.	.	.	.	.	.	.	.	.	G	20.1	3.934634	0.73442	.	.	ENSG00000165238	ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.65533	0.2700	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75431	-0.3320	10	0.87932	D	0	.	18.3104	0.90197	0.0:0.0:1.0:0.0	.	379;379;379;379	Q9Y3S1-2;Q9Y3S1-4;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	F	379;379;379;365	ENSP00000412465:V379F;ENSP00000297954:V379F;ENSP00000378860:V379F;ENSP00000378858:V365F	ENSP00000297954:V379F	V	+	1	0	WNK2	95036970	1.000000	0.71417	0.742000	0.31022	0.784000	0.44337	9.445000	0.97587	2.375000	0.81037	0.655000	0.94253	GTC			0.602	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000317359.1		NM_006648	
HSPA5	3309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	127999044	127999044	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:127999044C>T	ENST00000324460.6	-	8	1995	c.1792G>A	c.(1792-1794)Gta>Ata	p.V598I		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	598					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TTTTCTTCTACAGCTTTTTCC	0.383										Prostate(1;0.17)																											p.V598I													.	HSPA5	41		0			c.G1792A												94.0	96.0	96.0					9																	127999044		2203	4300	6503	SO:0001583	missense	3309	exon8			CTTCTACAGCTTT		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1792G>A	9.37:g.127999044C>T	ENSP00000324173:p.Val598Ile		140	0.0071428571	1		125	0.10	13	NM_005347	5985	0.20	1219	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199980	0.38905	.	.	ENSG00000044574	ENST00000324460	T	0.14766	2.48	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.09113	0.0225	N	0.05592	-0.015	0.80722	D	1	B	0.14805	0.011	B	0.20577	0.03	T	0.25950	-1.0117	10	0.33141	T	0.24	-8.1772	17.3707	0.87376	0.0:1.0:0.0:0.0	.	598	P11021	GRP78_HUMAN	I	598	ENSP00000324173:V598I	ENSP00000324173:V598I	V	-	1	0	HSPA5	127038865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.414000	0.81942	0.585000	0.79938	GTA			0.383	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054062.1			
GAPVD1	26130	broad.mit.edu	37	9	128099583	128099583	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:128099583G>C	ENST00000495955.1	+	17	2880	c.2590G>C	c.(2590-2592)Gtg>Ctg	p.V864L	GAPVD1_ENST00000394104.2_Missense_Mutation_p.V864L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.V864L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.V843L|GAPVD1_ENST00000470056.1_Missense_Mutation_p.V864L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.V891L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.V838L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.V843L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	864					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						Ggaaggagctgtgggaggaaa	0.507																																					p.V891L													.	GAPVD1	124		0			c.G2671C												85.0	84.0	84.0					9																	128099583		2203	4300	6503	SO:0001583	missense	26130	exon16			GGAGCTGTGGGAG		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2590G>C	9.37:g.128099583G>C	ENSP00000419063:p.Val864Leu		108	0	0		84	0.04	3	NM_015635	19	0.00	0	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.31|15.31	2.794252|2.794252	0.50102|0.50102	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	6.17|6.17	4.32|4.32	0.51571|0.51571	.|.	.|0.427525	.|0.27504	.|N	.|0.019077	T|T	0.18676|0.18676	0.0448|0.0448	N|N	0.03608|0.03608	-0.345|-0.345	0.28272|0.28272	N|N	0.924364|0.924364	.|B;B;B;B;B;B	.|0.09022	.|0.0;0.001;0.002;0.002;0.002;0.0	.|B;B;B;B;B;B	.|0.06405	.|0.0;0.0;0.002;0.002;0.002;0.0	T|T	0.07888|0.07888	-1.0749|-1.0749	5|9	.|0.23302	.|T	.|0.38	.|.	10.0132|10.0132	0.41999|0.41999	0.1862:0.0:0.8138:0.0|0.1862:0.0:0.8138:0.0	.|.	.|838;864;864;843;864;891	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	S|L	700|864;891;864;838;843;864;864;864;843	.|.	.|ENSP00000265956:V838L	C|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127139404|127139404	0.979000|0.979000	0.34478|0.34478	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.742000|1.742000	0.38248|0.38248	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGT|GTG			0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding		OTTHUMT00000355644.1			
ABCA2	20	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	139906169	139906169	+	Silent	SNP	G	G	A			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chr9:139906169G>A	ENST00000371605.3	-	35	5712	c.5565C>T	c.(5563-5565)gtC>gtT	p.V1855V	ABCA2_ENST00000341511.6_Silent_p.V1856V|ABCA2_ENST00000265662.5_Silent_p.V1856V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1855					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACAGGATGATGACACAGCAGG	0.657																																					p.V1886V													.	.			0			c.C5658T												31.0	35.0	34.0					9																	139906169		2004	4116	6120	SO:0001819	synonymous_variant	20	exon36			GATGATGACACAG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5565C>T	9.37:g.139906169G>A			69	0	0		63	0.13	8	NM_212533	21	0.05	1	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37																																																																																						0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding				NM_001606	
KRBOX4	55634	broad.mit.edu;bcgsc.ca;mdanderson.org	37	X	46332341	46332341	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chrX:46332341A>G	ENST00000344302.4	+	6	1041	c.410A>G	c.(409-411)gAt>gGt	p.D137G	KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000298190.6_Missense_Mutation_p.D132G|KRBOX4_ENST00000478600.1_Intron	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	137					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										ACAGAATTTGATTCTGTAAGG	0.373																																					p.D137G													.	.			0			c.A410G												76.0	67.0	70.0					X																	46332341		2203	4300	6503	SO:0001583	missense	55634	exon6			AATTTGATTCTGT		CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.410A>G	X.37:g.46332341A>G	ENSP00000345797:p.Asp137Gly		147	0	0		228	0.03	7	NM_001129898	27	0.00	0	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	ENST00000344302.4	37	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.314940	0.01331	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00724	5.78;5.9	2.85	0.124	0.14714	.	.	.	.	.	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B;B	0.25904	0.127;0.137	B;B	0.26416	0.031;0.069	T	0.47328	-0.9126	9	0.46703	T	0.11	.	2.4907	0.04609	0.4419:0.1418:0.0:0.4163	.	137;132	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	G	137;132;137	ENSP00000345797:D137G;ENSP00000298190:D132G	ENSP00000298190:D132G	D	+	2	0	ZNF673	46217285	0.000000	0.05858	0.001000	0.08648	0.421000	0.31385	0.209000	0.17435	-0.146000	0.11274	-0.485000	0.04761	GAT			0.373	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056359.2		NM_017776	
HUWE1	10075	mdanderson.org	37	X	53672397	53672397	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAG8-01A-31D-A42Y-10	TCGA-2G-AAG8-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2ceba955-6002-4bc2-948a-a361cce3d2a1	6b451c5e-f92b-4fbc-8cc5-7396fcc3e1f9	g.chrX:53672397C>T	ENST00000342160.3	-	6	827	c.370G>A	c.(370-372)Gct>Act	p.A124T	HUWE1_ENST00000218328.8_Missense_Mutation_p.A124T|HUWE1_ENST00000262854.6_Missense_Mutation_p.A124T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	124					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						TCAGAGGAAGCCAATAAAGTT	0.408																																					p.A124T													.	.			0			c.G370A												78.0	62.0	68.0					X																	53672397		2203	4300	6503	SO:0001583	missense	10075	exon7			AGGAAGCCAATAA	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.370G>A	X.37:g.53672397C>T	ENSP00000340648:p.Ala124Thr		43	0	0		35	0.09	3	NM_031407	1	0.00	0	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711848	0.89112	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.66099	-0.09;-0.09;-0.19	5.47	5.47	0.80525	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.141454	0.45361	D	0.000372	T	0.71434	0.3339	L	0.57536	1.79	0.58432	D	0.999998	D	0.57257	0.979	P	0.54544	0.755	T	0.74156	-0.3756	10	0.59425	D	0.04	.	17.0225	0.86437	0.0:1.0:0.0:0.0	.	124	Q7Z6Z7	HUWE1_HUMAN	T	124	ENSP00000340648:A124T;ENSP00000262854:A124T;ENSP00000218328:A124T	ENSP00000218328:A124T	A	-	1	0	HUWE1	53689122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.847000	0.75404	2.282000	0.76494	0.600000	0.82982	GCT			0.408	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056766.1		XM_497119	
