#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CIPC	85457	hgsc.bcm.edu	37	14	77580242	77580243	+	Frame_Shift_Ins	INS	-	-	C	rs74069038		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:77580242_77580243insC	ENST00000361786.2	+	4	1098_1099	c.781_782insC	c.(781-783)tccfs	p.S261fs	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		261					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GACCTTCGCTTCCCCCGCCAGT	0.564																																						.											0																																										SO:0001589	frameshift_variant	85457																														ENST00000361786.2:c.786dupC	14.37:g.77580247_77580247dupC	ENSP00000355319:p.Ser261fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCI1|Q8N389|Q8NDZ1	Frame_Shift_Ins	INS	ENST00000361786.2	37	CCDS9855.1																																																																																				0.564	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414278.1		
PPP1R13B	23368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	104205041	104205041	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:104205041C>T	ENST00000202556.9	-	14	3121	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.V366M|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	947					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCAGCATTCACGTTGACACCA	0.542																																						.											0													142.0	150.0	147.0					14																	104205041		2149	4265	6414	SO:0001583	missense	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2839G>A	14.37:g.104205041C>T	ENSP00000202556:p.Val947Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169936	0.94768	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.69685	-0.35;-0.42	5.25	5.25	0.73442	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82118	-0.0615	10	0.87932	D	0	.	19.0309	0.92957	0.0:1.0:0.0:0.0	.	947	Q96KQ4	ASPP1_HUMAN	M	947;366	ENSP00000202556:V947M;ENSP00000395213:V366M	ENSP00000202556:V947M	V	-	1	0	PPP1R13B	103274794	1.000000	0.71417	0.980000	0.43619	0.905000	0.53344	7.528000	0.81941	2.744000	0.94065	0.561000	0.74099	GTG		0.542	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	
EARS2	124454	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	23546345	23546345	+	Silent	SNP	C	C	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:23546345C>A	ENST00000563459.1	-	4	828	c.822G>T	c.(820-822)ctG>ctT	p.L274L	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Silent_p.L274L|EARS2_ENST00000449606.1_Silent_p.L274L|EARS2_ENST00000564501.1_Silent_p.L274L			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	274					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		GGAGCAGGGGCAGGTGGGCGA	0.627																																						.											0													31.0	35.0	34.0					16																	23546345		2092	4227	6319	SO:0001819	synonymous_variant	124454			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.822G>T	16.37:g.23546345C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	CCDS42132.1																																																																																				0.627	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451	
C19orf18	147685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	58472845	58472845	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:58472845T>G	ENST00000314391.3	-	5	547	c.446A>C	c.(445-447)gAt>gCt	p.D149A		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	149						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CTCTTCTTCATCTCCTAATAA	0.463																																						.											0													156.0	132.0	140.0					19																	58472845		2203	4300	6503	SO:0001583	missense	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.446A>C	19.37:g.58472845T>G	ENSP00000321519:p.Asp149Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000314391.3	37	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600617	0.46423	.	.	ENSG00000177025	ENST00000314391	T	0.58060	0.36	4.14	3.13	0.36017	.	0.617223	0.14394	N	0.322330	T	0.51991	0.1707	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	D	0.63703	0.917	T	0.33343	-0.9872	10	0.62326	D	0.03	-35.2486	6.2222	0.20687	0.0:0.1121:0.0:0.8879	.	149	Q8NEA5	CS018_HUMAN	A	149	ENSP00000321519:D149A	ENSP00000321519:D149A	D	-	2	0	C19orf18	63164657	0.002000	0.14202	0.012000	0.15200	0.002000	0.02628	0.138000	0.16016	0.940000	0.37473	0.379000	0.24179	GAT		0.463	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	
TSC22D2	9819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	150127405	150127405	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:150127405C>T	ENST00000361875.3	+	1	1284	c.268C>T	c.(268-270)Cta>Tta	p.L90L	TSC22D2_ENST00000361136.2_Silent_p.L90L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	90					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAACCTCCTCCTAGATGGGCA	0.662																																						.											0													17.0	20.0	19.0					3																	150127405		2203	4298	6501	SO:0001819	synonymous_variant	9819			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.268C>T	3.37:g.150127405C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	ENST00000361875.3	37	CCDS3149.1																																																																																				0.662	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
CAP2	10486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.A105T|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.A105T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473																																						.											1	Substitution - Missense(1)	lung(1)											73.0	74.0	74.0					6																	17507412		2203	4300	6503	SO:0001583	missense	10486			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.313G>A	6.37:g.17507412G>A	ENSP00000229922:p.Ala105Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.850919	0.02651	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.11821	2.74;2.74;2.74	5.38	0.545	0.17190	Adenylate cyclase-associated CAP, N-terminal (2);	0.434279	0.27289	N	0.020054	T	0.01353	0.0044	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.09377	0.003;0.004;0.003	T	0.47471	-0.9115	10	0.14656	T	0.56	-3.1059	6.7367	0.23413	0.3309:0.0:0.553:0.1162	.	105;79;105	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	T	105;105;79;105	ENSP00000229922:A105T;ENSP00000368275:A79T;ENSP00000418604:A105T	ENSP00000229922:A105T	A	+	1	0	CAP2	17615391	0.000000	0.05858	0.273000	0.24645	0.024000	0.10985	-0.057000	0.11768	0.012000	0.14892	-1.181000	0.01715	GCA		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2		
SLC20A2	6575	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	8	42294728	42294728	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:42294728C>T	ENST00000342228.3	-	8	1671	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	SLC20A2_ENST00000520262.1_Silent_p.S434S|SLC20A2_ENST00000520179.1_Silent_p.S434S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	434					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TACAGTAGCTCGAGTAGCTGT	0.652																																						.											0													65.0	61.0	62.0					8																	42294728		2203	4300	6503	SO:0001819	synonymous_variant	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1302G>A	8.37:g.42294728C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000342228.3	37	CCDS6132.1																																																																																				0.652	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1		
DPP7	29952	hgsc.bcm.edu	37	9	140008471	140008471	+	Missense_Mutation	SNP	C	C	T	rs138978681		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:140008471C>T	ENST00000371579.2	-	4	335	c.331G>A	c.(331-333)Ggg>Agg	p.G111R		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	111						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGCGACTTCCCGTAGTAGCGC	0.771													C|||	1	0.000199681	0.0	0.0	5008	,	,		3826	0.0		0.001	False		,,,				2504	0.0					.											0								C	ARG/GLY	1,4293		0,1,2146	12.0	12.0	12.0		331	4.1	1.0	9	dbSNP_134	12	4,8458		0,4,4227	no	missense	DPP7	NM_013379.2	125	0,5,6373	TT,TC,CC		0.0473,0.0233,0.0392	probably-damaging	111/493	140008471	5,12751	2147	4231	6378	SO:0001583	missense	29952			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.331G>A	9.37:g.140008471C>T	ENSP00000360635:p.Gly111Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	CCDS7030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308878|4.308878	0.81247|0.81247	2.33E-4|2.33E-4	4.73E-4|4.73E-4	ENSG00000176978|ENSG00000176978	ENST00000371579|ENST00000443858	D|.	0.99732|.	-6.57|.	5.02|5.02	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84529|0.84529	0.5492|0.5492	H|H	0.96889|0.96889	3.9|3.9	0.44092|0.44092	D|D	0.996854|0.996854	D|D	0.76494|0.76494	0.999|0.999	D|P	0.70227|0.61132	0.968|0.884	D|D	0.88254|0.88254	0.2918|0.2918	10|8	0.87932|0.87932	D|D	0|0	-31.7857|-31.7857	10.5562|10.5562	0.45118|0.45118	0.0:0.8039:0.1961:0.0|0.0:0.8039:0.1961:0.0	.|.	111|134	Q9UHL4|E7EQS4	DPP2_HUMAN|.	R|Q	111|134	ENSP00000360635:G111R|.	ENSP00000360635:G111R|ENSP00000413492:R134Q	G|R	-|-	1|2	0|0	DPP7|DPP7	139128292|139128292	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.690000|0.690000	0.40134|0.40134	4.043000|4.043000	0.57354|0.57354	2.330000|2.330000	0.79161|0.79161	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.771	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379	
OR2W1	26692	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	6	29012270	29012270	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:29012270G>A	ENST00000377175.1	-	1	747	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTTTGACTTCGTTCTCAGCAC	0.393																																						.											0													139.0	137.0	138.0					6																	29012270		1511	2709	4220	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.683C>T	6.37:g.29012270G>A	ENSP00000366380:p.Thr228Met	Somatic		WXS	Illumina HiSeq	Phase_I	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621816	0.28889	.	.	ENSG00000204704	ENST00000377175	T	0.00048	8.82	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.095158	0.46758	N	0.000274	T	0.00012	0.0000	N	0.00517	-1.405	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.35671	T	0.21	.	9.4483	0.38710	0.914:0.0:0.086:0.0	.	228	Q9Y3N9	OR2W1_HUMAN	M	228	ENSP00000366380:T228M	ENSP00000366380:T228M	T	-	2	0	OR2W1	29120249	0.812000	0.29077	0.999000	0.59377	0.865000	0.49528	3.916000	0.56416	0.668000	0.31126	-0.332000	0.08345	ACG		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
ANO5	203859	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	11	22291963	22291963	+	Silent	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:22291963G>A	ENST00000324559.8	+	18	2321	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	668					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCCCTTGGGCTTTTCTATG	0.418																																						.											0													163.0	167.0	166.0					11																	22291963		2203	4300	6503	SO:0001819	synonymous_variant	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2004G>A	11.37:g.22291963G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.418	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANTXR2	118429	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	4	80954628	80954628	+	Missense_Mutation	SNP	G	G	A	rs529468896		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:80954628G>A	ENST00000307333.7	-	9	796	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ANTXR2_ENST00000295465.4_Missense_Mutation_p.T265M|ANTXR2_ENST00000403729.2_Missense_Mutation_p.T265M|ANTXR2_ENST00000404191.1_Missense_Mutation_p.T188M|ANTXR2_ENST00000346652.6_Intron	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	265					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGACCTACTCGTTGTATATGT	0.393									Juvenile Hyaline Fibromatosis																													.											0													88.0	85.0	86.0					4																	80954628		1900	4128	6028	SO:0001583	missense	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.794C>T	4.37:g.80954628G>A	ENSP00000306185:p.Thr265Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	G	5.659	0.306184	0.10733	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.71	-2.12	0.07165	Anthrax toxin receptor, extracellular (1);	1.064330	0.07177	N	0.853341	T	0.66107	0.2756	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.008	B;B	0.12837	0.008;0.005	T	0.51980	-0.8636	10	0.37606	T	0.19	-3.045	3.0427	0.06143	0.5656:0.0806:0.1079:0.2459	.	265;265	P58335;P58335-4	ANTR2_HUMAN;.	M	265;188;265;265	ENSP00000385575:T265M;ENSP00000384028:T188M;ENSP00000306185:T265M;ENSP00000295465:T265M	ENSP00000295465:T265M	T	-	2	0	ANTXR2	81173652	0.000000	0.05858	0.072000	0.20136	0.218000	0.24690	-0.664000	0.05292	-0.133000	0.11537	-0.347000	0.07816	ACG		0.393	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
GABRB2	2561	hgsc.bcm.edu	37	5	160886707	160886709	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:160886707_160886709delCTT	ENST00000393959.1	-	4	378_380	c.379_381delAAG	c.(379-381)aagdel	p.K127del	GABRB2_ENST00000520240.1_In_Frame_Del_p.K127del|GABRB2_ENST00000353437.6_In_Frame_Del_p.K127del|GABRB2_ENST00000274547.2_In_Frame_Del_p.K127del|GABRB2_ENST00000517901.1_In_Frame_Del_p.K64del|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	127					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCACAAATGACTTCTTATCGTTC	0.458																																						.											0																																										SO:0001651	inframe_deletion	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.379_381delAAG	5.37:g.160886710_160886712delCTT	ENSP00000377531:p.Lys127del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	In_Frame_Del	DEL	ENST00000393959.1	37	CCDS4355.1																																																																																				0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
KIF17	57576	broad.mit.edu;mdanderson.org	37	1	21014271	21014271	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:21014271C>T	ENST00000247986.2	-	8	1858	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	KIF17_ENST00000375044.1_Silent_p.Q416Q|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Silent_p.Q516Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGGAGGAAACCTGAGTCTTGG	0.542																																						.											0													83.0	80.0	81.0					1																	21014271		2203	4300	6503	SO:0001819	synonymous_variant	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1548G>A	1.37:g.21014271C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816	
GPR158	57512	broad.mit.edu;ucsc.edu;mdanderson.org	37	10	25887315	25887315	+	Silent	SNP	C	C	G	rs369998736		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr10:25887315C>G	ENST00000376351.3	+	11	3119	c.2760C>G	c.(2758-2760)acC>acG	p.T920T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	920					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGAAAACCCAAACAGCAG	0.438																																						.											0								C		1,4405	2.1+/-5.4	0,1,2202	133.0	144.0	140.0		2760	1.6	1.0	10		140	0,8600		0,0,4300	no	coding-synonymous	GPR158	NM_020752.2		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		920/1216	25887315	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2760C>G	10.37:g.25887315C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
ANO3	63982	broad.mit.edu;mdanderson.org	37	11	26465370	26465370	+	Silent	SNP	C	C	T	rs373465060		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:26465370C>T	ENST00000256737.3	+	3	1152	c.300C>T	c.(298-300)agC>agT	p.S100S	ANO3_ENST00000525139.1_Silent_p.S84S|ANO3_ENST00000531646.1_Silent_p.S100S|ANO3_ENST00000537978.1_Silent_p.S84S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	100					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTGACCTCAGCGATTTTTGTT	0.328																																						.											0													117.0	115.0	115.0					11																	26465370		2203	4300	6503	SO:0001819	synonymous_variant	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.300C>T	11.37:g.26465370C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.328	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
ORAOV1	220064	broad.mit.edu	37	11	69482297	69482297	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:69482297A>G	ENST00000535657.1	-	5	485	c.404T>C	c.(403-405)cTt>cCt	p.L135P	ORAOV1_ENST00000539414.1_3'UTR|ORAOV1_ENST00000279147.4_Missense_Mutation_p.L135P|ORAOV1_ENST00000536870.1_Missense_Mutation_p.L76P			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	135										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			TCAAAATGAAAGTCCGGAACC	0.428																																						.											0													101.0	101.0	101.0					11																	69482297		2200	4294	6494	SO:0001583	missense	220064				CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.404T>C	11.37:g.69482297A>G	ENSP00000446129:p.Leu135Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085253	0.76642	.	.	ENSG00000149716	ENST00000279147;ENST00000536870;ENST00000535657	T;T;T	0.58652	0.42;0.32;0.42	4.89	4.89	0.63831	.	0.219542	0.30920	N	0.008611	T	0.72882	0.3516	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.87578	0.998;0.503	T	0.75431	-0.3320	10	0.59425	D	0.04	.	13.0807	0.59112	1.0:0.0:0.0:0.0	.	76;135	F5GWS9;Q8WV07	.;ORAV1_HUMAN	P	135;76;135	ENSP00000279147:L135P;ENSP00000441984:L76P;ENSP00000446129:L135P	ENSP00000279147:L135P	L	-	2	0	ORAOV1	69191478	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.773000	0.68898	1.824000	0.53156	0.443000	0.29094	CTT		0.428	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451	
TAS2R50	259296	broad.mit.edu;mdanderson.org;bcgsc.ca	37	12	11139408	11139408	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:11139408C>A	ENST00000506868.1	-	1	103	c.52G>T	c.(52-54)Gtt>Ttt	p.V18F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	18					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TTTCCGAGAACAAATAAAACC	0.338																																						.											0													41.0	48.0	45.0					12																	11139408		2199	4297	6496	SO:0001583	missense	259296			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.52G>T	12.37:g.11139408C>A	ENSP00000424040:p.Val18Phe	Somatic		WXS	Illumina HiSeq	Phase_I	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526332	0.27299	.	.	ENSG00000212126	ENST00000506868	T	0.39997	1.05	2.19	-1.66	0.08265	.	0.399174	0.17157	N	0.184841	T	0.30386	0.0763	L	0.45137	1.4	0.09310	N	1	B	0.33044	0.395	B	0.37943	0.261	T	0.21245	-1.0251	10	0.52906	T	0.07	.	3.705	0.08397	0.0:0.2865:0.4131:0.3004	.	18	P59544	T2R50_HUMAN	F	18	ENSP00000424040:V18F	ENSP00000424040:V18F	V	-	1	0	TAS2R50	11030675	0.000000	0.05858	0.002000	0.10522	0.166000	0.22503	-5.366000	0.00128	-0.130000	0.11599	0.313000	0.20887	GTT		0.338	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)aacfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			P46093	GPR4_HUMAN	G protein-coupled receptor 19	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398																																						.											0													195.0	181.0	186.0					12																	12814274		2203	4300	6503	SO:0001589	frameshift_variant	2842				CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1109delA	12.37:g.12814274delT	ENSP00000441832:p.Asn370fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3T3|B0M0K1|Q6NWM4	Frame_Shift_Del	DEL	ENST00000540510.1	37	CCDS8652.1																																																																																				0.398	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143	
MYF6	4618	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	81102660	81102660	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:81102660G>A	ENST00000228641.3	+	3	872	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	217					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTAGCCTTCGATGCCTTTCT	0.522																																						.											0													171.0	148.0	156.0					12																	81102660		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.650G>A	12.37:g.81102660G>A	ENSP00000228641:p.Arg217Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048748	0.36181	.	.	ENSG00000111046	ENST00000228641	D	0.95980	-3.87	5.6	4.7	0.59300	.	0.191189	0.46442	N	0.000289	D	0.91713	0.7380	L	0.43152	1.355	0.37091	D	0.899427	B	0.21147	0.052	B	0.08055	0.003	D	0.89343	0.3655	10	0.27785	T	0.31	-17.1862	11.6151	0.51086	0.0847:0.0:0.9153:0.0	.	217	P23409	MYF6_HUMAN	Q	217	ENSP00000228641:R217Q	ENSP00000228641:R217Q	R	+	2	0	MYF6	79626791	0.941000	0.31946	0.978000	0.43139	0.985000	0.73830	1.817000	0.39002	1.338000	0.45544	0.591000	0.81541	CGA		0.522	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469	
LRFN5	145581	broad.mit.edu	37	14	42356435	42356435	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:42356435A>G	ENST00000298119.4	+	3	1796	c.607A>G	c.(607-609)Aca>Gca	p.T203A	LRFN5_ENST00000554171.1_Missense_Mutation_p.T203A|LRFN5_ENST00000554120.1_Missense_Mutation_p.T203A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	203						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTAGATGTGACATCAAATAA	0.428										HNSCC(30;0.082)																												.											0													71.0	65.0	67.0					14																	42356435		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.607A>G	14.37:g.42356435A>G	ENSP00000298119:p.Thr203Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305424	0.60305	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51071	0.72;0.72;0.72	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.43500	0.1250	N	0.02334	-0.595	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.58752	-0.7581	10	0.45353	T	0.12	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	203;203	G3V364;Q96NI6	.;LRFN5_HUMAN	A	203	ENSP00000298119:T203A;ENSP00000451897:T203A;ENSP00000451067:T203A	ENSP00000298119:T203A	T	+	1	0	LRFN5	41426185	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.324000	0.96373	2.098000	0.63641	0.528000	0.53228	ACA		0.428	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FAM154B	283726	broad.mit.edu;mdanderson.org;bcgsc.ca	37	15	82564044	82564044	+	Missense_Mutation	SNP	C	C	T	rs150372195		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:82564044C>T	ENST00000339465.5	+	2	223	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.R37W|FAM154B_ENST00000565432.1_Missense_Mutation_p.R65W	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	52										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TACCTACAAACGGGATTTGAA	0.408																																						.											0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	83.0	86.0		154	4.0	1.0	15	dbSNP_134	86	0,8600		0,0,4300	no	missense	FAM154B	NM_001008226.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	52/399	82564044	1,13005	2203	4300	6503	SO:0001583	missense	283726			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.154C>T	15.37:g.82564044C>T	ENSP00000340445:p.Arg52Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192179	0.58017	2.27E-4	0.0	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18810	2.19;2.19	4.98	3.99	0.46301	.	0.434099	0.19405	N	0.115064	T	0.35856	0.0946	M	0.65975	2.015	0.21933	N	0.999469	D;D	0.67145	0.996;0.996	P;P	0.56648	0.802;0.803	T	0.10042	-1.0647	10	0.66056	D	0.02	-1.3395	11.0297	0.47765	0.3549:0.6451:0.0:0.0	.	37;52	B4E2M2;Q658L1	.;F154B_HUMAN	W	52;37	ENSP00000340445:R52W;ENSP00000403743:R37W	ENSP00000340445:R52W	R	+	1	2	FAM154B	80351099	0.586000	0.26782	0.982000	0.44146	0.533000	0.34776	3.035000	0.49759	2.481000	0.83766	0.591000	0.81541	CGG		0.408	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
UBE2MP1	606551	broad.mit.edu	37	16	34404145	34404145	+	IGR	SNP	G	G	A	rs538685637		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:34404145G>A								RP11-244B22.11 (24893 upstream) : RP11-488I20.9 (22915 downstream)																							AACAGCTGCCGGTTGTTCTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16688	0.0		0.0	False		,,,				2504	0.001					.											0																																										SO:0001628	intergenic_variant	606551																															16.37:g.34404145G>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP		37																																																																																				0	0.552								
PELP1	27043	broad.mit.edu	37	17	4575433	4575433	+	Silent	SNP	C	C	T	rs201455361	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:4575433C>T	ENST00000574876.1	-	16	2870	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	PELP1_ENST00000301396.4_Silent_p.E1095E|PELP1_ENST00000572293.1_Silent_p.E1001E|PELP1_ENST00000436683.2_Silent_p.E804E|PELP1_ENST00000269230.7_Silent_p.E861E			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	951	Glu-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						cttcctcctcctcatcctcct	0.498																																						.											0													60.0	65.0	63.0					17																	4575433		2079	4157	6236	SO:0001819	synonymous_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2853G>A	17.37:g.4575433C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																				0.498	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389	
TTLL6	284076	broad.mit.edu	37	17	46847199	46847202	+	Frame_Shift_Del	DEL	CATG	CATG	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CATG	CATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:46847199_46847202delCATG	ENST00000393382.3	-	14	2439_2442	c.2298_2301delCATG	c.(2296-2301)gacatgfs	p.DM766fs	TTLL6_ENST00000433608.2_Frame_Shift_Del_p.DM459fs	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCTTGTTCATGTCACTCTTTA	0.451																																						.											0																																										SO:0001589	frameshift_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2298_2301delCATG	17.37:g.46847199_46847202delCATG	ENSP00000377043:p.Asp766fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000393382.3	37	CCDS45724.1																																																																																				0.451	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	
GAA	2548	broad.mit.edu	37	17	78086495	78086495	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:78086495G>T	ENST00000302262.3	+	13	2092	c.1873G>T	c.(1873-1875)Gcc>Tcc	p.A625S	GAA_ENST00000390015.3_Missense_Mutation_p.A625S	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	625					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGAGCAGCTCGCCTCCTCCGT	0.687																																						.											0													14.0	14.0	14.0					17																	78086495		2196	4290	6486	SO:0001583	missense	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1873G>T	17.37:g.78086495G>T	ENSP00000305692:p.Ala625Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	6.601	0.479270	0.12581	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93133	-3.17;-3.17	4.97	-3.35	0.04928	Glycoside hydrolase, superfamily (1);	0.610435	0.18363	N	0.143511	D	0.89008	0.6593	L	0.49126	1.545	0.09310	N	1	B	0.16166	0.016	B	0.19666	0.026	T	0.73294	-0.4028	10	0.17832	T	0.49	-22.522	16.4366	0.83877	0.0:0.0:0.16:0.84	.	625	P10253	LYAG_HUMAN	S	625	ENSP00000305692:A625S;ENSP00000374665:A625S	ENSP00000305692:A625S	A	+	1	0	GAA	75701090	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.004000	0.13106	-0.282000	0.09128	-0.397000	0.06425	GCC		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		
NLRP13	126204	broad.mit.edu	37	19	56424477	56424477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:56424477delT	ENST00000342929.3	-	5	705	c.706delA	c.(706-708)aggfs	p.R236fs	NLRP13_ENST00000588751.1_Frame_Shift_Del_p.R236fs	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCCTGCCCTCCCCACCAAG	0.502																																						.											0													114.0	116.0	115.0					19																	56424477		2203	4300	6503	SO:0001589	frameshift_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.706delA	19.37:g.56424477delT	ENSP00000343891:p.Arg236fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7RTR5	Frame_Shift_Del	DEL	ENST00000342929.3	37	CCDS33119.1																																																																																				0.502	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
GTF3C2	2976	broad.mit.edu;ucsc.edu	37	2	27550102	27550102	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:27550102T>C	ENST00000359541.2	-	18	2888	c.2459A>G	c.(2458-2460)gAg>gGg	p.E820G	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E820G|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	820					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCTCTCCCTCCTGCATGCG	0.532																																						.											0													78.0	66.0	70.0					2																	27550102		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2459A>G	2.37:g.27550102T>C	ENSP00000352536:p.Glu820Gly	Somatic		WXS	Illumina HiSeq	Phase_I	D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	CCDS1749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.54|16.54	3.150979|3.150979	0.57151|0.57151	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000431028;ENST00000454704;ENST00000415683	T;T|.	0.73469|.	-0.75;-0.75|.	4.95|4.95	3.77|3.77	0.43336|0.43336	WD40 repeat-like-containing domain (1);|.	0.490106|.	0.22812|.	N|.	0.055334|.	T|T	0.30634|0.30634	0.0771|0.0771	N|N	0.14661|0.14661	0.345|0.345	0.33213|0.33213	D|D	0.553678|0.553678	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38520|0.38520	-0.9657|-0.9657	10|5	0.28530|.	T|.	0.3|.	-9.0314|-9.0314	7.4656|7.4656	0.27320|0.27320	0.2122:0.0:0.0:0.7878|0.2122:0.0:0.0:0.7878	.|.	820|.	Q8WUA4|.	TF3C2_HUMAN|.	G|G	820|35;329;243	ENSP00000352536:E820G;ENSP00000264720:E820G|.	ENSP00000264720:E820G|.	E|R	-|-	2|1	0|2	GTF3C2|GTF3C2	27403606|27403606	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	0.549000|0.549000	0.23329|0.23329	0.876000|0.876000	0.35872|0.35872	0.529000|0.529000	0.55759|0.55759	GAG|AGG		0.532	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2		
ALK	238	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	29416536	29416536	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:29416536C>T	ENST00000389048.3	-	29	5323	c.4417G>A	c.(4417-4419)Ggg>Agg	p.G1473R	ALK_ENST00000431873.1_Missense_Mutation_p.G303R	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1473					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1471fs*45(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ACGTGTCCCCCTTCCACGGCC	0.582			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													.	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	1	Deletion - Frameshift(1)	pancreas(1)											101.0	104.0	103.0					2																	29416536		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4417G>A	2.37:g.29416536C>T	ENSP00000373700:p.Gly1473Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.244136	0.22796	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77620	-1.11;2.59	5.64	3.81	0.43845	.	0.137965	0.32671	N	0.005794	T	0.65565	0.2703	L	0.36672	1.1	0.38337	D	0.943963	B	0.23735	0.09	B	0.21917	0.037	T	0.58875	-0.7559	10	0.23302	T	0.38	.	9.4229	0.38561	0.0:0.7747:0.1491:0.0762	.	1473	Q9UM73	ALK_HUMAN	R	1473;303	ENSP00000373700:G1473R;ENSP00000414027:G303R	ENSP00000373700:G1473R	G	-	1	0	ALK	29270040	0.999000	0.42202	0.449000	0.26957	0.022000	0.10575	5.497000	0.66924	0.716000	0.32124	0.556000	0.70494	GGG		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
IMMT	10989	broad.mit.edu	37	2	86374840	86374840	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:86374840C>T	ENST00000410111.3	-	13	1905	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	IMMT_ENST00000449247.2_Silent_p.K495K|IMMT_ENST00000442664.2_Silent_p.K505K|IMMT_ENST00000254636.5_Silent_p.K407K|IMMT_ENST00000409051.2_Silent_p.K459K	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	506					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAATTCAGACTTCAATTCCT	0.488																																						.											0													110.0	109.0	109.0					2																	86374840		1983	4152	6135	SO:0001819	synonymous_variant	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1518G>A	2.37:g.86374840C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	7.097	0.573397	0.13623	.	.	ENSG00000132305	ENST00000419070	.	.	.	6.17	0.529	0.17095	.	.	.	.	.	T	0.69233	0.3088	.	.	.	0.42153	D	0.991561	.	.	.	.	.	.	T	0.67995	-0.5526	4	.	.	.	-24.7055	16.3409	0.83081	0.0:0.8147:0.0:0.1853	.	.	.	.	I	361	.	.	V	-	1	0	IMMT	86228351	0.003000	0.15002	0.512000	0.27736	0.993000	0.82548	-0.013000	0.12678	-0.109000	0.12044	0.655000	0.94253	GTC		0.488	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
SATB2	23314	broad.mit.edu	37	2	200136984	200136984	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:200136984C>T	ENST00000417098.1	-	11	2968	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	SATB2_ENST00000457245.1_Missense_Mutation_p.E718K|SATB2_ENST00000443023.1_Missense_Mutation_p.E659K|SATB2_ENST00000260926.5_Missense_Mutation_p.E718K|SATB2_ENST00000428695.1_Missense_Mutation_p.E600K	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	718					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAGCATTTTCCTCCTCAGCC	0.502																																					Colon(30;262 767 11040 24421 36230)	.											0													127.0	122.0	123.0					2																	200136984		2203	4300	6503	SO:0001583	missense	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2152G>A	2.37:g.200136984C>T	ENSP00000401112:p.Glu718Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353580	0.41700	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.82;0.81	5.63	5.63	0.86233	.	0.213619	0.39834	N	0.001259	T	0.36082	0.0954	N	0.14661	0.345	0.46376	D	0.999013	B;B	0.26002	0.139;0.004	B;B	0.22152	0.038;0.004	T	0.14839	-1.0458	10	0.51188	T	0.08	-6.9461	20.0401	0.97581	0.0:1.0:0.0:0.0	.	600;718	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	K	718;659;718;600;718	ENSP00000401112:E718K;ENSP00000388764:E659K;ENSP00000260926:E718K;ENSP00000388581:E600K;ENSP00000405420:E718K	ENSP00000260926:E718K	E	-	1	0	SATB2	199845229	1.000000	0.71417	0.991000	0.47740	0.115000	0.19883	4.034000	0.57289	2.805000	0.96524	0.655000	0.94253	GAA		0.502	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265	
NCL	4691	broad.mit.edu	37	2	232322444	232322444	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:232322444C>T	ENST00000322723.4	-	9	1597	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SNORA75_ENST00000384158.1_RNA|SNORD82_ENST00000365530.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	453	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCATCGATCTCTGTTCCCTGC	0.393																																						.											0													168.0	152.0	157.0					2																	232322444		2203	4300	6503	SO:0001583	missense	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1357G>A	2.37:g.232322444C>T	ENSP00000318195:p.Glu453Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498117	0.96355	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.15718	2.4;2.4	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044956	0.85682	D	0.000000	T	0.27594	0.0678	N	0.13140	0.3	0.80722	D	1	D	0.61697	0.99	D	0.77004	0.989	T	0.11817	-1.0572	10	0.51188	T	0.08	-23.3514	18.4237	0.90602	0.0:1.0:0.0:0.0	.	453	P19338	NUCL_HUMAN	K	453;345;225;54	ENSP00000318195:E453K;ENSP00000349410:E54K	ENSP00000318195:E453K	E	-	1	0	NCL	232030688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.087000	0.76893	2.587000	0.87381	0.558000	0.71614	GAG		0.393	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
MUC4	4585	broad.mit.edu	37	3	195509957	195509957	+	Missense_Mutation	SNP	A	A	G	rs201699932	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:195509957A>G	ENST00000463781.3	-	2	8953	c.8494T>C	c.(8494-8496)Tct>Cct	p.S2832P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S2832P|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGAGGTGGCATGA	0.592																																						.											0																																										SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8494T>C	3.37:g.195509957A>G	ENSP00000417498:p.Ser2832Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.461	-0.109956	0.06924	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37584	1.19;1.27	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.34452	0.183	T	0.11203	-1.0597	7	.	.	.	.	2.7662	0.05321	0.5841:0.0:0.0:0.4159	.	2704	E7ESK3	.	P	2832	ENSP00000417498:S2832P;ENSP00000420243:S2832P	.	S	-	1	0	MUC4	196994736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.163000	0.00282	-0.000000	0.14550	0.000000	0.15137	TCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
G3BP2	9908	broad.mit.edu	37	4	76570758	76570758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:76570758delA	ENST00000359707.4	-	12	2090	c.1305delT	c.(1303-1305)ggtfs	p.G436fs	G3BP2_ENST00000395719.3_Frame_Shift_Del_p.G436fs|G3BP2_ENST00000357854.3_Frame_Shift_Del_p.G403fs	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	436	Gly-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CACGTGGACCACCGGGACCTC	0.522																																						.											0													267.0	208.0	228.0					4																	76570758		2203	4300	6503	SO:0001589	frameshift_variant	9908			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1305delT	4.37:g.76570758delA	ENSP00000352738:p.Gly436fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6X1|O60606|O75149|Q9UPA1	Frame_Shift_Del	DEL	ENST00000359707.4	37	CCDS3571.1																																																																																				0.522	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297	
PDHA2	5161	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	96761794	96761794	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:96761794G>A	ENST00000295266.4	+	1	556	c.493G>A	c.(493-495)Gtc>Atc	p.V165I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.V165I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CAATGGCATCGTCGGTGCACA	0.507																																						.											1	Substitution - Missense(1)	lung(1)											69.0	71.0	71.0					4																	96761794		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.493G>A	4.37:g.96761794G>A	ENSP00000295266:p.Val165Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659398	0.47467	.	.	ENSG00000163114	ENST00000295266	D	0.95853	-3.83	4.67	4.67	0.58626	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	M	0.68952	2.095	0.80722	D	1	P	0.43750	0.816	B	0.34873	0.191	D	0.94488	0.7699	10	0.87932	D	0	-1.6001	15.4624	0.75369	0.0:0.0:1.0:0.0	.	165	P29803	ODPAT_HUMAN	I	165	ENSP00000295266:V165I	ENSP00000295266:V165I	V	+	1	0	PDHA2	96980817	1.000000	0.71417	0.849000	0.33467	0.107000	0.19398	8.809000	0.91944	2.587000	0.87381	0.467000	0.42956	GTC		0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
RIMS1	22999	broad.mit.edu	37	6	73102466	73102466	+	Silent	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:73102466A>G	ENST00000521978.1	+	31	4572	c.4572A>G	c.(4570-4572)ggA>ggG	p.G1524G	RIMS1_ENST00000414192.2_Silent_p.G51G|RIMS1_ENST00000491071.2_Silent_p.G1347G|RIMS1_ENST00000522291.1_Silent_p.G1123G|RIMS1_ENST00000264839.7_Silent_p.G1373G|RIMS1_ENST00000425662.2_Silent_p.G592G|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Silent_p.G844G|RIMS1_ENST00000538414.1_Silent_p.G330G|RIMS1_ENST00000523963.1_Silent_p.G649G|RIMS1_ENST00000348717.5_Silent_p.G1307G|RIMS1_ENST00000520567.1_Silent_p.G1174G|RIMS1_ENST00000517960.1_Silent_p.G1307G|RIMS1_ENST00000518273.1_Silent_p.G1203G|RIMS1_ENST00000517827.1_Silent_p.G658G	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1524					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGATTGGGACCAGCCCAGC	0.403																																						.											0													97.0	92.0	93.0					6																	73102466		1844	4107	5951	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4572A>G	6.37:g.73102466A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.80|10.80	1.451830|1.451830	0.26074|0.26074	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000517433	.|.	.|.	.|.	5.5|5.5	-0.0463|-0.0463	0.13847|0.13847	.|.	.|.	.|.	.|.	.|.	T|T	0.33904|0.33904	0.0879|0.0879	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.21211|0.21211	-1.0252|-1.0252	4|4	.|.	.|.	.|.	-18.708|-18.708	4.8555|4.8555	0.13557|0.13557	0.6334:0.0:0.1322:0.2344|0.6334:0.0:0.1322:0.2344	.|.	.|.	.|.	.|.	G|A	442|870	.|.	.|.	D|T	+|+	2|1	0|0	RIMS1|RIMS1	73159187|73159187	0.996000|0.996000	0.38824|0.38824	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	0.671000|0.671000	0.25172|0.25172	-0.232000|-0.232000	0.09811|0.09811	0.482000|0.482000	0.46254|0.46254	GAC|ACC		0.403	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
AVL9	23080	broad.mit.edu	37	7	32620439	32620439	+	Frame_Shift_Del	DEL	A	A	-	rs201620276		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:32620439delA	ENST00000318709.4	+	15	1989	c.1768delA	c.(1768-1770)aaafs	p.K591fs	AVL9_ENST00000409301.1_Frame_Shift_Del_p.K573fs|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	591					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAACGTGGCAAAAAAATTGG	0.373																																						.											0													89.0	84.0	85.0					7																	32620439		2203	4300	6503	SO:0001589	frameshift_variant	23080			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1768delA	7.37:g.32620439delA	ENSP00000315568:p.Lys591fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q92573	Frame_Shift_Del	DEL	ENST00000318709.4	37	CCDS34613.1																																																																																				0.373	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
SPDYE1	285955	broad.mit.edu	37	7	44046997	44046997	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:44046997delA	ENST00000258704.3	+	5	900	c.763delA	c.(763-765)aacfs	p.N255fs	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	255	Arg-rich.									endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						CCGTTCCATGAACCCGAGGGC	0.557																																						.											0													184.0	188.0	187.0					7																	44046997		2203	4300	6503	SO:0001589	frameshift_variant	285955			AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.763delA	7.37:g.44046997delA	ENSP00000258704:p.Asn255fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NTH5	Frame_Shift_Del	DEL	ENST00000258704.3	37	CCDS5475.1																																																																																				0.557	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064	
POR	5447	broad.mit.edu;ucsc.edu;mdanderson.org	37	7	75617798	75617798	+	IGR	SNP	G	G	C	rs114564646	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:75617798G>C	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TGGTGAGGTAGAGCTTGAACT	0.647																																						.											0													137.0	150.0	146.0					7																	75617798		2102	4205	6307	SO:0001628	intergenic_variant	83862			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617798G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	CCDS5579.1																																																																																				0.647	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	.											2	Deletion - Frameshift(2)	breast(1)|kidney(1)											137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	CCDS34933.1																																																																																				0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
RGAG1	57529	broad.mit.edu	37	X	109698465	109698465	+	Silent	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:109698465A>G	ENST00000465301.2	+	4	4329	c.4083A>G	c.(4081-4083)aaA>aaG	p.K1361K	RGAG1_ENST00000540313.1_Silent_p.K1361K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1361										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTACCTGAAAGAGCATGGAG	0.483																																						.											0													225.0	195.0	205.0					X																	109698465		2203	4300	6503	SO:0001819	synonymous_variant	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.4083A>G	X.37:g.109698465A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2M8	Silent	SNP	ENST00000465301.2	37	CCDS14552.1																																																																																				0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
VANGL1	81839	broad.mit.edu	37	1	116226629	116226630	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:116226629_116226630insA	ENST00000355485.2	+	6	1282_1283	c.1011_1012insA	c.(1012-1014)tcafs	p.S338fs	VANGL1_ENST00000369510.4_Frame_Shift_Ins_p.S336fs|VANGL1_ENST00000310260.3_Frame_Shift_Ins_p.S338fs|VANGL1_ENST00000369509.1_Frame_Shift_Ins_p.S338fs|VANGL1_ENST00000474344.1_3'UTR	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	338					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGCGCAGGGACTCAAGCCACAA	0.52																																						.											0																																										SO:0001589	frameshift_variant	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	Exception_encountered	1.37:g.116226629_116226630insA	ENSP00000347672:p.Ser338fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Frame_Shift_Ins	INS	ENST00000355485.2	37	CCDS883.1																																																																																				0.520	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
PKLR	5313	broad.mit.edu	37	1	155270047	155270048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:155270047_155270048insC	ENST00000342741.4	-	2	162_163	c.124_125insG	c.(124-126)gccfs	p.A42fs	PKLR_ENST00000392414.3_Frame_Shift_Ins_p.A11fs	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	42					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGCCACACTGGCCCGCCGCAGA	0.629																																						.											0																																										SO:0001589	frameshift_variant	5313			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.125dupG	1.37:g.155270050_155270050dupC	ENSP00000339933:p.Ala42fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75758|P11973	Frame_Shift_Ins	INS	ENST00000342741.4	37	CCDS1109.1																																																																																				0.629	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	
MUC5B	727897	broad.mit.edu	37	11	1260210	1260211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1260210_1260211insC	ENST00000529681.1	+	26	3465_3466	c.3407_3408insC	c.(3406-3411)tgccacfs	p.H1137fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.H1140fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1137	Cys-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCCAGGCCTGCCACGACGCGG	0.678																																						.											0																																										SO:0001589	frameshift_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3409dupC	11.37:g.1260212_1260212dupC	ENSP00000436812:p.His1137fs	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.678	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
HECTD4	283450	broad.mit.edu	37	12	112688161	112688162	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:112688161_112688162insC	ENST00000430131.2	-	24	3615_3616	c.2470_2471insG	c.(2470-2472)gccfs	p.A824fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.A1074fs|HECTD4_ENST00000550722.1_Frame_Shift_Ins_p.A1100fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	824					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACGCCATTGGCCTCCACCTGC	0.525																																						.											0																																										SO:0001589	frameshift_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2471dupG	12.37:g.112688163_112688163dupC	ENSP00000404379:p.Ala824fs	Somatic		WXS	Illumina HiSeq	Phase_I	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37																																																																																					0.525	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
POTEG	404785	broad.mit.edu	37	14	19553498	19553499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:19553498_19553499insG	ENST00000409832.3	+	1	134_135	c.82_83insG	c.(82-84)tgcfs	p.C28fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	28										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGCAAGTGGTGCCGCCACTGC	0.574																																						.											0																																										SO:0001589	frameshift_variant	404785				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.83dupG	14.37:g.19553499_19553499dupG	ENSP00000386971:p.Cys28fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Frame_Shift_Ins	INS	ENST00000409832.3	37	CCDS32018.1																																																																																				0.574	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356	
YLPM1	56252	broad.mit.edu	37	14	75248591	75248592	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr14:75248591_75248592insC	ENST00000552421.1	+	4	1969_1970	c.1845_1846insC	c.(1846-1848)ccafs	p.P616fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.P616fs			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAACAGCACCTCCACCTGTCAT	0.579																																						.											0																																										SO:0001589	frameshift_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1847dupC	14.37:g.75248593_75248593dupC	ENSP00000447921:p.Pro616fs	Somatic		WXS	Illumina HiSeq	Phase_I	P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	ENST00000552421.1	37																																																																																					0.579	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
PLA2G4D	283748	broad.mit.edu	37	15	42362217	42362218	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:42362217_42362218insG	ENST00000290472.3	-	19	2213_2214	c.2119_2120insC	c.(2119-2121)cagfs	p.Q707fs		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	707	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TGGCTGGTGCTGGTCCTGAGGG	0.688																																						.											0																																										SO:0001589	frameshift_variant	283748			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2120dupC	15.37:g.42362219_42362219dupG	ENSP00000290472:p.Gln707fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N176	Frame_Shift_Ins	INS	ENST00000290472.3	37	CCDS32203.1																																																																																				0.688	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034	
C15orf48	84419	broad.mit.edu	37	15	45723237	45723238	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:45723237_45723238insG	ENST00000344300.3	+	2	265_266	c.75_76insG	c.(76-78)ggafs	p.G26fs	C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.G26fs|RP11-519G16.5_ENST00000559553.1_RNA|MIR147B_ENST00000390185.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	26						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TGGCGGCGGGTGGAGCCTCATC	0.416																																						.											0																																										SO:0001589	frameshift_variant	84419				CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"""normal mucosa of esophagus specific 1"""	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.77dupG	15.37:g.45723239_45723239dupG	ENSP00000341610:p.Gly26fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000344300.3	37	CCDS10124.1																																																																																				0.416	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413	
EFTUD1P1	648809	broad.mit.edu	37	15	84790358	84790359	+	IGR	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr15:84790358_84790359insC								EFTUD1P1 (7930 upstream) : RP13-262C2.3 (49570 downstream)																							GTGGTGTGGCTCGAAGAGGAAA	0.411																																						.											0																																										SO:0001628	intergenic_variant	648809																															15.37:g.84790359_84790359dupC		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	INS		37																																																																																				0	0.411								
ZSCAN10	84891	broad.mit.edu	37	16	3140487	3140488	+	Frame_Shift_Ins	INS	-	-	C	rs140902087		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:3140487_3140488insC	ENST00000252463.2	-	5	869_870	c.782_783insG	c.(781-783)ggcfs	p.G261fs	ZSCAN10_ENST00000538082.2_Frame_Shift_Ins_p.G179fs|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	261					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTTCACCAGGGCCGCTAGCCGC	0.639																																						.											0																																										SO:0001589	frameshift_variant	84891			AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.783dupG	16.37:g.3140489_3140489dupC	ENSP00000252463:p.Gly261fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQD3|H0YFS6|Q1WWM2	Frame_Shift_Ins	INS	ENST00000252463.2	37	CCDS10493.1																																																																																				0.639	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805	
CCDC144A	9720	broad.mit.edu	37	17	16665752	16665753	+	Frame_Shift_Ins	INS	-	-	A	rs200919178		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:16665752_16665753insA	ENST00000360524.8	+	14	3868_3869	c.3792_3793insA	c.(3793-3795)caafs	p.Q1265fs	CCDC144A_ENST00000456009.1_Frame_Shift_Ins_p.Q1031fs|CCDC144A_ENST00000443444.2_Frame_Shift_Ins_p.Q1265fs|CCDC144A_ENST00000399273.1_Frame_Shift_Ins_p.Q1265fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Ins_p.Q1265fs	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1265																	TAAAAACTTCGCAAGCCGACTT	0.347																																						.											0																																										SO:0001589	frameshift_variant	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	Exception_encountered	17.37:g.16665752_16665753insA	ENSP00000353717:p.Gln1265fs	Somatic		WXS	Illumina HiSeq	Phase_I	O60311|Q6ZU57	Frame_Shift_Ins	INS	ENST00000360524.8	37	CCDS45621.1																																																																																				0.347	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
LAMA1	284217	broad.mit.edu	37	18	6949154	6949155	+	Frame_Shift_Ins	INS	-	-	C	rs35759306		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr18:6949154_6949155insC	ENST00000389658.3	-	59	8594_8595	c.8501_8502insG	c.(8500-8502)ggtfs	p.G2834fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2834	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGTAGAACAAACCCTCCACATC	0.48																																						.											0																																										SO:0001589	frameshift_variant	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8502dupG	18.37:g.6949157_6949157dupC	ENSP00000374309:p.Gly2834fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000389658.3	37	CCDS32787.1																																																																																				0.480	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
ADAMTS10	81794	broad.mit.edu	37	19	8650351	8650352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:8650351_8650352insT	ENST00000597188.1	-	23	3123_3124	c.2853_2854insA	c.(2851-2856)ctcgacfs	p.D952fs	ADAMTS10_ENST00000270328.4_Frame_Shift_Ins_p.D952fs|ADAMTS10_ENST00000595838.1_Frame_Shift_Ins_p.D439fs|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	952	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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						TCAGACCAGTCGAGGGCCGCCC	0.713																																						.											0																																										SO:0001589	frameshift_variant	81794			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.2853_2854insA	19.37:g.8650351_8650352insT	ENSP00000471851:p.Asp952fs	Somatic		WXS	Illumina HiSeq	Phase_I	M0QZE4	Frame_Shift_Ins	INS	ENST00000597188.1	37	CCDS12206.1																																																																																				0.713	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
MAP1S	55201	broad.mit.edu	37	19	17838792	17838793	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:17838792_17838793insC	ENST00000324096.4	+	5	2750_2751	c.2599_2600insC	c.(2599-2601)gccfs	p.A867fs	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Frame_Shift_Ins_p.A841fs	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	867	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GAAGCCCCTGGCCCGCCCCAAC	0.668																																						.											0																																										SO:0001589	frameshift_variant	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2602dupC	19.37:g.17838795_17838795dupC	ENSP00000325313:p.Ala867fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Frame_Shift_Ins	INS	ENST00000324096.4	37	CCDS32954.1																																																																																				0.668	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174	
FUZ	80199	broad.mit.edu	37	19	50312460	50312461	+	Frame_Shift_Ins	INS	-	-	G	rs527949286		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:50312460_50312461insG	ENST00000313777.4	-	7	908_909	c.745_746insC	c.(745-747)ctcfs	p.L249fs	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Frame_Shift_Ins_p.L199fs|FUZ_ENST00000534008.1_5'Flank|FUZ_ENST00000445575.2_Frame_Shift_Ins_p.L249fs|FUZ_ENST00000528094.1_Frame_Shift_Ins_p.L213fs	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	249	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CGGCCCGCAGAGTAGACACAGC	0.673																																						.											0																																										SO:0001589	frameshift_variant	80199			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.746dupC	19.37:g.50312461_50312461dupG	ENSP00000313309:p.Leu249fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD86|B5MDH0|Q6PJY0|Q9H613	Frame_Shift_Ins	INS	ENST00000313777.4	37	CCDS12781.1																																																																																				0.673	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129	
POTEE	445582	broad.mit.edu	37	2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A	rs200735283	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	684					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TTGAAAGTGTGAAAAAAAAGAA	0.416																																						.											0																																										SO:0001589	frameshift_variant	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2057dupA	2.37:g.132021085_132021085dupA	ENSP00000439189:p.Lys684fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Ins	INS	ENST00000356920.5	37	CCDS46414.1																																																																																				0.416	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
SIGLEC1	6614	broad.mit.edu	37	20	3677991	3677992	+	Splice_Site	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr20:3677991_3677992insG	ENST00000344754.4	-	9	2122		c.e9-2		SIGLEC1_ENST00000202578.4_Splice_Site	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin						cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGACAGTGGCTGGAGAGCAGGC	0.658																																						.											0																																										SO:0001630	splice_region_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2123-2->C	20.37:g.3677993_3677993dupG		Somatic		WXS	Illumina HiSeq	Phase_I	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Splice_Site	INS	ENST00000344754.4	37	CCDS13060.1																																																																																				0.658	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	Intron
POTEH	23784	broad.mit.edu	37	22	16266972	16266973	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:16266972_16266973insT	ENST00000343518.6	-	9	1527_1528	c.1476_1477insA	c.(1474-1479)cctgaafs	p.E493fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	493										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCTGGCTTTCAGGTGTTCTGC	0.431																																						.											0																																										SO:0001589	frameshift_variant	23784			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1476_1477insA	22.37:g.16266972_16266973insT	ENSP00000340610:p.Glu493fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Ins	INS	ENST00000343518.6	37	CCDS46658.1																																																																																				0.431	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
RIMBP3	85376	broad.mit.edu	37	22	20458634	20458635	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:20458634_20458635insC	ENST00000426804.1	-	1	3151_3152	c.2667_2668insG	c.(2665-2670)gtgcccfs	p.P890fs	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	890	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGTTGGAGGGCACCAGCCCCC	0.609																																						.											0																																										SO:0001589	frameshift_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2668dupG	22.37:g.20458635_20458635dupC	ENSP00000391564:p.Pro890fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.609	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
DMRTA1	63951	broad.mit.edu	37	9	22451467	22451468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:22451467_22451468insA	ENST00000325870.2	+	2	1297_1298	c.1072_1073insA	c.(1072-1074)caafs	p.Q358fs		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	358					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGATGTGGTCCAAGCCATTGAA	0.45																																						.											0																																										SO:0001589	frameshift_variant	63951			AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1074dupA	9.37:g.22451469_22451469dupA	ENSP00000319651:p.Gln358fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L481|Q8N8Y9|Q9H4B9	Frame_Shift_Ins	INS	ENST00000325870.2	37	CCDS6514.1																																																																																				0.450	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2		
KIF24	347240	broad.mit.edu	37	9	34257343	34257344	+	Frame_Shift_Ins	INS	-	-	GGGG	rs376517927		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:34257343_34257344insGGGG	ENST00000402558.2	-	10	2285_2286	c.2261_2262insCCCC	c.(2260-2262)ccgfs	p.P754fs	KIF24_ENST00000379166.2_Frame_Shift_Ins_p.P754fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.P620fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.P620fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	754					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCTGATGTGGCGGGATGTTTGT	0.54																																						.											0																																										SO:0001589	frameshift_variant	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.2261_2262insCCCC	9.37:g.34257343_34257344insGGGG	ENSP00000384433:p.Pro754fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	ENST00000402558.2	37	CCDS6551.2																																																																																				0.540	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
COL5A1	1289	broad.mit.edu	37	9	137645718	137645719	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr9:137645718_137645719insG	ENST00000371817.3	+	15	2156_2157	c.1742_1743insG	c.(1741-1746)ttgaagfs	p.K582fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	582	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGCGGAGGTTTGAAGGGCGAGC	0.658																																						.											0																																										SO:0001589	frameshift_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1743dupG	9.37:g.137645719_137645719dupG	ENSP00000360882:p.Lys582fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q15094|Q5SUX4	Frame_Shift_Ins	INS	ENST00000371817.3	37	CCDS6982.1																																																																																				0.658	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
SATL1	340562	broad.mit.edu	37	X	84363631	84363632	+	5'UTR	INS	-	-	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:84363631_84363632insT	ENST00000395409.3	-	0	342_343				SATL1_ENST00000332921.5_5'UTR|SATL1_ENST00000509231.1_Frame_Shift_Ins_p.S115fs			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCCTGATTGGCTTGGGCCTGGT	0.545											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0																																										SO:0001623	5_prime_UTR_variant	340562			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-219->A	X.37:g.84363633_84363633dupT		Somatic	1228	WXS	Illumina HiSeq	Phase_I	A0AVK7|E9PB72|Q5H8V9	Frame_Shift_Ins	INS	ENST00000395409.3	37																																																																																					0.545	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
HDGF	3068	ucsc.edu	37	1	156721154	156721154	+	Missense_Mutation	SNP	T	T	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:156721154T>G	ENST00000357325.5	-	1	382	c.68A>C	c.(67-69)tAc>tCc	p.Y23S	HDGF_ENST00000537739.1_Missense_Mutation_p.Y23S|HDGF_ENST00000416666.2_5'Flank|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368206.5_Intron|HDGF_ENST00000368209.5_Intron|PRCC_ENST00000491853.1_Intron	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	23	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCAGTGTGGGTAGCCCTTCAT	0.721																																						.											0													37.0	36.0	36.0					1																	156721154		2203	4299	6502	SO:0001583	missense	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.68A>C	1.37:g.156721154T>G	ENSP00000349878:p.Tyr23Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681376	0.47991	.	.	ENSG00000143321	ENST00000357325;ENST00000537739;ENST00000406805	T;T	0.74002	-0.8;-0.8	3.63	2.45	0.29901	PWWP (3);	.	.	.	.	T	0.79799	0.4508	M	0.86268	2.805	0.80722	D	1	P;D	0.67145	0.944;0.996	D;D	0.70227	0.968;0.957	T	0.80020	-0.1557	9	0.87932	D	0	.	7.5044	0.27536	0.1928:0.0:0.0:0.8072	.	23;23	B2RDE8;P51858	.;HDGF_HUMAN	S	23	ENSP00000349878:Y23S;ENSP00000443120:Y23S	ENSP00000349878:Y23S	Y	-	2	0	HDGF	154987778	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	5.215000	0.65241	0.374000	0.24650	0.477000	0.44152	TAC		0.721	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494	
C1orf198	84886	ucsc.edu	37	1	231004156	231004156	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:231004156A>G	ENST00000366663.5	-	1	243	c.103T>C	c.(103-105)Tcg>Ccg	p.S35P	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	35						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCTCAGCGACGAGAAGTAA	0.682																																						.											0													22.0	27.0	26.0					1																	231004156		2202	4300	6502	SO:0001583	missense	84886			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.103T>C	1.37:g.231004156A>G	ENSP00000355623:p.Ser35Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	a	27.1	4.796512	0.90453	.	.	ENSG00000119280	ENST00000366663	T	0.42131	0.98	3.63	2.47	0.30058	.	0.000000	0.64402	U	0.000003	T	0.57184	0.2036	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	T	0.57312	-0.7833	10	0.87932	D	0	.	9.652	0.39904	0.8238:0.1762:0.0:0.0	.	35	Q9H425	CA198_HUMAN	P	35	ENSP00000355623:S35P	ENSP00000355623:S35P	S	-	1	0	C1orf198	229070779	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.272000	0.78516	0.431000	0.26258	0.375000	0.23000	TCG		0.682	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800	
LPO	4025	ucsc.edu	37	17	56343529	56343529	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:56343529T>C	ENST00000262290.4	+	11	1851	c.1535T>C	c.(1534-1536)cTg>cCg	p.L512P	LPO_ENST00000421678.2_Missense_Mutation_p.L429P|LPO_ENST00000543544.1_Missense_Mutation_p.L453P|LPO_ENST00000582328.1_Missense_Mutation_p.L429P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	512					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.L512Q(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ATTGATCCTCTGGTGCGGGGC	0.527																																						.											1	Substitution - Missense(1)	lung(1)											52.0	45.0	48.0					17																	56343529		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1535T>C	17.37:g.56343529T>C	ENSP00000262290:p.Leu512Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424191	0.83667	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73469	-0.75;-0.75;-0.75	6.06	6.06	0.98353	.	0.132210	0.51477	D	0.000081	D	0.90386	0.6991	H	0.95574	3.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93004	0.6426	10	0.87932	D	0	-20.5675	15.7966	0.78416	0.0:0.0:0.0:1.0	.	429;512	E7EMJ3;P22079	.;PERL_HUMAN	P	512;429;453;257	ENSP00000262290:L512P;ENSP00000400245:L429P;ENSP00000445344:L453P	ENSP00000262290:L512P	L	+	2	0	LPO	53698528	0.453000	0.25721	0.998000	0.56505	0.997000	0.91878	3.968000	0.56809	2.315000	0.78130	0.533000	0.62120	CTG		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
CFAP221	200373	ucsc.edu	37	2	120397411	120397411	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:120397411T>C	ENST00000413369.3	+	21	2275	c.2188T>C	c.(2188-2190)Tcc>Ccc	p.S730P	PCDP1_ENST00000602047.1_Missense_Mutation_p.S444P	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GGTTCTCTCCTCCCTGCCGGA	0.493																																						.											0													95.0	94.0	94.0					2																	120397411		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.2188T>C	2.37:g.120397411T>C	ENSP00000393222:p.Ser730Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000413369.3	37	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067453	0.55539	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.18960	2.18	5.07	-4.22	0.03800	.	1.174140	0.06179	N	0.679050	T	0.28732	0.0712	L	0.52573	1.65	0.09310	N	1	D	0.58970	0.984	P	0.59056	0.851	T	0.39941	-0.9589	10	0.54805	T	0.06	-1.9503	4.2765	0.10811	0.1332:0.1104:0.5434:0.213	.	730	Q4G0U5	PCDP1_HUMAN	P	444;730	ENSP00000393222:S730P	ENSP00000295220:S444P	S	+	1	0	AC069154.2	120113881	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.133000	0.15912	-0.261000	0.09405	-1.236000	0.01555	TCC		0.493	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
SIGLEC11	114132	ucsc.edu	37	19	50455564	50455564	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:50455564A>G	ENST00000447370.2	-	9	1829	c.1739T>C	c.(1738-1740)gTc>gCc	p.V580A	CTC-326K19.6_ENST00000451973.1_Intron|U3_ENST00000408198.1_RNA|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V484A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	580					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCTGAAGACGACAAGGCAGGA	0.622																																						.											0													79.0	79.0	79.0					19																	50455564		2203	4300	6503	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1739T>C	19.37:g.50455564A>G	ENSP00000412361:p.Val580Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.712|9.712	1.157369|1.157369	0.21454|0.21454	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.56275	.|0.47	3.32|3.32	2.29|2.29	0.28610|0.28610	.|.	.|1.243010	.|0.05875	.|N	.|0.625446	T|T	0.40546|0.40546	0.1121|0.1121	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22746	.|0.003;0.074	.|B;B	.|0.15870	.|0.014;0.01	T|T	0.23013|0.23013	-1.0200|-1.0200	5|10	.|0.25751	.|T	.|0.34	.|.	5.4248|5.4248	0.16419|0.16419	0.8566:0.0:0.1434:0.0|0.8566:0.0:0.1434:0.0	.|.	.|484;580	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	P|A	474|580;484	.|ENSP00000412361:V580A	.|ENSP00000412361:V580A	S|V	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55147376|55147376	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	0.734000|0.734000	0.26101|0.26101	0.441000|0.441000	0.26529|0.26529	0.379000|0.379000	0.24179|0.24179	TCG|GTC		0.622	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
ZYG11A	440590	ucsc.edu	37	1	53343631	53343631	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:53343631T>C	ENST00000371528.1	+	10	1887	c.1739T>C	c.(1738-1740)cTt>cCt	p.L580P	ZYG11A_ENST00000371532.1_Missense_Mutation_p.L238P	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	580										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						AGCAAAGTACTTGGTCTTTTG	0.294																																						.											0													44.0	40.0	41.0					1																	53343631		692	1591	2283	SO:0001583	missense	440590				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.1739T>C	1.37:g.53343631T>C	ENSP00000360583:p.Leu580Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCK5	Missense_Mutation	SNP	ENST00000371528.1	37	CCDS44148.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543683	0.65198	.	.	ENSG00000203995	ENST00000371532;ENST00000371528	T;T	0.61158	0.13;0.13	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78715	-0.2096	10	0.87932	D	0	-13.0367	12.7185	0.57129	0.0:0.0:0.0:1.0	.	580	Q6WRX3	ZY11A_HUMAN	P	238;580	ENSP00000360587:L238P;ENSP00000360583:L580P	ENSP00000360583:L580P	L	+	2	0	ZYG11A	53116219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.688000	0.61715	2.189000	0.69895	0.460000	0.39030	CTT		0.294	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024856.3	NM_001004339	
ACTN4	81	mdanderson.org;bcgsc.ca	37	19	39217630	39217630	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:39217630A>G	ENST00000252699.2	+	18	2300	c.2224A>G	c.(2224-2226)Acc>Gcc	p.T742A	ACTN4_ENST00000424234.2_Missense_Mutation_p.T352A|ACTN4_ENST00000390009.3_Missense_Mutation_p.T523A	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	742	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTGCTCACCACCATTGCCCG	0.637																																					Colon(168;199 1940 10254 46213 46384)	.											0													98.0	73.0	82.0					19																	39217630		2203	4300	6503	SO:0001583	missense	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2224A>G	19.37:g.39217630A>G	ENSP00000252699:p.Thr742Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563257	0.65538	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.59912	1.85	0.58432	D	0.999998	B	0.02656	0.0	B	0.15484	0.013	T	0.27088	-1.0084	10	0.34782	T	0.22	.	12.4041	0.55430	1.0:0.0:0.0:0.0	.	742	O43707	ACTN4_HUMAN	A	742;352;523;178	ENSP00000252699:T742A;ENSP00000411187:T352A;ENSP00000439497:T523A;ENSP00000398393:T178A	ENSP00000252699:T742A	T	+	1	0	ACTN4	43909470	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.087000	0.94110	1.823000	0.53134	0.402000	0.26972	ACC		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		
ADAM22	53616	mdanderson.org	37	7	87564497	87564497	+	Missense_Mutation	SNP	C	C	G	rs2279542	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:87564497C>G	ENST00000265727.7	+	2	321	c.242C>G	c.(241-243)cCg>cGg	p.P81R	ADAM22_ENST00000315984.7_Missense_Mutation_p.P81R|ADAM22_ENST00000398201.4_Missense_Mutation_p.P81R|ADAM22_ENST00000398204.4_Missense_Mutation_p.P81R|ADAM22_ENST00000398209.3_Missense_Mutation_p.P81R|ADAM22_ENST00000439864.1_Missense_Mutation_p.P81R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	81			P -> R (in dbSNP:rs2279542). {ECO:0000269|PubMed:10524237, ECO:0000269|Ref.3}.		adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CTCGGTGGCCCGCAGGTGAGA	0.701													G|||	3157	0.630391	0.9834	0.6282	5008	,	,		12450	0.5407		0.5229	False		,,,				2504	0.3579					.											0								G	ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO	3375,409		1523,329,40	10.0	12.0	11.0		242,242,242,242,242	-5.3	0.0	7	dbSNP_100	11	4227,3961		1120,1987,987	no	missense,missense,missense,missense,missense	ADAM22	NM_004194.3,NM_016351.4,NM_021721.3,NM_021722.4,NM_021723.3	103,103,103,103,103	2643,2316,1027	GG,GC,CC		48.3757,10.8087,36.5018	benign,benign,benign,benign,benign	81/860,81/871,81/824,81/900,81/907	87564497	7602,4370	1892	4094	5986	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.242C>G	7.37:g.87564497C>G	ENSP00000265727:p.Pro81Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	1379	0.6314102564102564	478	0.9715447154471545	215	0.5939226519337016	295	0.5157342657342657	391	0.5158311345646438	G	5.901	0.350386	0.11182	0.891913	0.516243	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.15834	4.56;3.76;2.39;4.56;4.56;4.56;4.56;4.56	4.66	-5.26	0.02772	Peptidase M12B, propeptide (1);	1.669830	0.03048	N	0.154188	T	0.00012	0.0000	L	0.41356	1.27	0.80722	P	0.0	B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.0;0.0;0.0	B;B;B;B;B;B	0.13407	0.007;0.003;0.006;0.001;0.003;0.009	T	0.32955	-0.9887	9	0.10111	T	0.7	.	1.0673	0.01614	0.2217:0.3099:0.2591:0.2094	rs2279542;rs10374693;rs17252615;rs61662105;rs2279542	133;81;81;81;81;81	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	R	81;81;81;81;81;81;81;48	ENSP00000381262:P81R;ENSP00000391334:P81R;ENSP00000413899:P81R;ENSP00000381260:P81R;ENSP00000265727:P81R;ENSP00000315900:P81R;ENSP00000381267:P81R;ENSP00000381261:P48R	ENSP00000265727:P81R	P	+	2	0	ADAM22	87402433	0.000000	0.05858	0.007000	0.13788	0.753000	0.42808	-1.004000	0.03678	-1.699000	0.01416	-0.738000	0.03535	CCG		0.701	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
ARHGEF10L	55160	mdanderson.org	37	1	18023690	18023690	+	Missense_Mutation	SNP	A	A	G	rs2270976	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:18023690A>G	ENST00000361221.3	+	29	3814	c.3655A>G	c.(3655-3657)Atc>Gtc	p.I1219V	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I922V|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I1180V|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I1180V|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I992V	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1219			I -> V (in dbSNP:rs2270976). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16112081}.			cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGACCCCGACATCTGGGTGCG	0.682													G|||	4120	0.822684	0.6694	0.8746	5008	,	,		15288	0.8988		0.8211	False		,,,				2504	0.9162					.											0								G	VAL/ILE,VAL/ILE	3132,1254		1149,834,210	18.0	19.0	19.0		3538,3655	3.0	1.0	1	dbSNP_100	19	7157,1397		3009,1139,129	yes	missense,missense	ARHGEF10L	NM_001011722.2,NM_018125.3	29,29	4158,1973,339	GG,GA,AA		16.3315,28.591,20.4869	benign,benign	1180/1241,1219/1280	18023690	10289,2651	2193	4277	6470	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3655A>G	1.37:g.18023690A>G	ENSP00000355060:p.Ile1219Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	CCDS182.1	1772	0.8113553113553114	333	0.676829268292683	314	0.8674033149171271	513	0.8968531468531469	612	0.8073878627968337	G	2.988	-0.208717	0.06140	0.71409	0.836685	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.58210	0.63;0.62;0.62;0.35;2.61	4.89	2.98	0.34508	.	0.331575	0.27787	N	0.017853	T	0.00012	0.0000	N	0.02697	-0.525	0.80722	P	0.0	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41270	-0.9518	9	0.02654	T	1	-19.6777	7.746	0.28869	0.2723:0.0:0.7277:0.0	rs2270976;rs59534978;rs2270976	992;922;1175;1180;1219	Q5VXI4;Q9HCE6-4;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;ARGAL_HUMAN	V	1219;1180;1180;992;922	ENSP00000355060:I1219V;ENSP00000399401:I1180V;ENSP00000364564:I1180V;ENSP00000364557:I992V;ENSP00000167825:I922V	ENSP00000167825:I922V	I	+	1	0	ARHGEF10L	17896277	0.236000	0.23804	1.000000	0.80357	0.993000	0.82548	0.608000	0.24223	0.461000	0.27071	-0.119000	0.15052	ATC		0.682	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125	
BCAR1	9564	mdanderson.org	37	16	75269477	75269477	+	Silent	SNP	A	A	C	rs61729595	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:75269477A>C	ENST00000162330.5	-	5	1446	c.1320T>G	c.(1318-1320)tcT>tcG	p.S440S	BCAR1_ENST00000420641.3_Silent_p.S458S|BCAR1_ENST00000538440.2_Silent_p.S440S|BCAR1_ENST00000393422.2_Silent_p.S458S|BCAR1_ENST00000393420.6_Silent_p.S458S|BCAR1_ENST00000546196.1_Silent_p.S411S|BCAR1_ENST00000418647.3_Silent_p.S486S|BCAR1_ENST00000542031.2_Silent_p.S438S|BCAR1_ENST00000535626.2_Silent_p.S292S|BCAR1_ENST00000566982.1_5'UTR	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	440	Ser-rich.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.S458S(1)|p.S440S(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGAGGACGCAGACTGGCTGC	0.701													A|||	169	0.033746	0.003	0.0375	5008	,	,		15021	0.001		0.0855	False		,,,				2504	0.0532					.											2	Substitution - coding silent(2)	prostate(2)						A	,,,,,,,,	69,4303		0,69,2117	10.0	15.0	13.0		1458,1374,1374,1374,1320,1314,876,690,1320	-7.5	0.0	16	dbSNP_129	13	590,7978		14,562,3708	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	14,631,5825	CC,CA,AA		6.8861,1.5782,5.0927	,,,,,,,,	486/917,458/889,458/889,458/889,440/871,438/869,292/723,230/661,440/871	75269477	659,12281	2186	4284	6470	SO:0001819	synonymous_variant	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1320T>G	16.37:g.75269477A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	CCDS10915.1																																																																																				0.701	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567	
BANP	54971	mdanderson.org	37	16	88105725	88105725	+	Silent	SNP	G	G	A	rs8050209	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr16:88105725G>A	ENST00000393207.1	+	13	1616	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	BANP_ENST00000481948.1_3'UTR|BANP_ENST00000393208.2_Silent_p.A437A|BANP_ENST00000355163.5_Silent_p.A443A|BANP_ENST00000479780.2_Silent_p.A412A|BANP_ENST00000286122.7_Silent_p.A465A|BANP_ENST00000538234.1_Silent_p.A454A|BANP_ENST00000355022.4_Silent_p.A415A	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	465					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACCCCGCGGCGGCGGGCGTGG	0.706													g|||	2278	0.454872	0.525	0.3804	5008	,	,		14347	0.3016		0.5388	False		,,,				2504	0.4847					.											0								A	,,,,,,	2401,1967		708,985,491	13.0	14.0	14.0		1353,1329,1236,1362,1395,1245,1311	-11.6	0.0	16	dbSNP_116	14	4625,3925		1296,2033,946	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BANP	NM_001173539.1,NM_001173540.1,NM_001173541.1,NM_001173542.1,NM_001173543.1,NM_017869.3,NM_079837.2	,,,,,,	2004,3018,1437	AA,AG,GG		45.9064,45.0321,45.6108	,,,,,,	451/506,443/498,412/467,454/509,465/520,415/470,437/492	88105725	7026,5892	2184	4275	6459	SO:0001819	synonymous_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1395G>A	16.37:g.88105725G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Silent	SNP	ENST00000393207.1	37	CCDS54054.1																																																																																				0.706	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869	
CDC27	996	mdanderson.org	37	17	45234432	45234432	+	Missense_Mutation	SNP	G	G	T	rs201187810		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:45234432G>T	ENST00000066544.3	-	7	782	c.689C>A	c.(688-690)tCc>tAc	p.S230Y	CDC27_ENST00000446365.2_Missense_Mutation_p.S169Y|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.S230Y|CDC27_ENST00000527547.1_Missense_Mutation_p.S230Y	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	230					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						AGACACTGAGGAATCTGTATT	0.318																																						.											0													36.0	40.0	38.0					17																	45234432		2180	4286	6466	SO:0001583	missense	996			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.689C>A	17.37:g.45234432G>T	ENSP00000066544:p.Ser230Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939804	0.52972	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.68479	-0.33;-0.31;-0.12;-0.33;0.82	5.44	5.44	0.79542	.	0.065886	0.64402	D	0.000007	T	0.55816	0.1944	N	0.19112	0.55	0.58432	D	0.999999	P;B;B;P	0.45283	0.855;0.011;0.043;0.855	B;B;B;B	0.41510	0.359;0.008;0.02;0.271	T	0.63292	-0.6670	10	0.66056	D	0.02	-14.3838	16.7505	0.85484	0.0:0.0:1.0:0.0	.	169;230;230;230	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	Y	230;230;169;230;230	ENSP00000066544:S230Y;ENSP00000434614:S230Y;ENSP00000392802:S169Y;ENSP00000437339:S230Y;ENSP00000432105:S230Y	ENSP00000066544:S230Y	S	-	2	0	CDC27	42589431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.204000	0.77872	2.555000	0.86185	0.460000	0.39030	TCC		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CPZ	8532	mdanderson.org	37	4	8594574	8594574	+	Missense_Mutation	SNP	T	T	C	rs2302583	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:8594574T>C	ENST00000360986.4	+	1	188	c.14T>C	c.(13-15)cTg>cCg	p.L5P	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.L5P|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	5			L -> P (in dbSNP:rs2302583). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9099699}.		proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L5delL(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGCCCCCGCTGCCGCTGCTG	0.761													C|||	4037	0.80611	0.8283	0.8761	5008	,	,		9685	0.9127		0.7406	False		,,,				2504	0.684					.											1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											2.0	3.0	3.0					4																	8594574		1502	3213	4715	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.14T>C	4.37:g.8594574T>C	ENSP00000354255:p.Leu5Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	1777	0.8136446886446886	382	0.7764227642276422	312	0.861878453038674	522	0.9125874125874126	561	0.7401055408970977	C	3.283	-0.146655	0.06627	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.59906	0.56;0.23	1.98	1.1	0.20463	.	4.658350	0.01367	N	0.012429	T	0.00012	0.0000	N	0.08118	0	0.58432	P	2.9999999999752447E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48210	-0.9055	9	0.49607	T	0.09	.	2.6287	0.04938	0.2816:0.5468:0.0:0.1716	rs2302583;rs56744501	5;5	Q66K79-2;Q66K79	.;CBPZ_HUMAN	P	5	ENSP00000354255:L5P;ENSP00000315074:L5P	ENSP00000315074:L5P	L	+	2	0	CPZ	8645474	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-0.680000	0.05197	0.000000	0.14550	-0.355000	0.07637	CTG		0.761	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
CPZ	8532	mdanderson.org	37	4	8594577	8594577	+	Missense_Mutation	SNP	C	C	T	rs34964084	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:8594577C>T	ENST00000360986.4	+	1	191	c.17C>T	c.(16-18)cCg>cTg	p.P6L	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.P6L|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	6			P -> L (in dbSNP:rs34964084). {ECO:0000269|PubMed:9099699}.		proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCCCGCTGCCGCTGCTGCTC	0.756													C|||	655	0.130791	0.025	0.1931	5008	,	,		9673	0.1617		0.2366	False		,,,				2504	0.089					.											0								C	,LEU/PRO,LEU/PRO	101,2957		1,99,1429	2.0	3.0	3.0		,17,17	-0.6	0.0	4	dbSNP_126	3	811,5659		38,735,2462	no	utr-5,missense,missense	CPZ	NM_001014448.2,NM_003652.3,NM_001014447.2	,98,98	39,834,3891	TT,TC,CC		12.5348,3.3028,9.5718	,benign,benign	,6/642,6/653	8594577	912,8616	1529	3235	4764	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.17C>T	4.37:g.8594577C>T	ENSP00000354255:p.Pro6Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	352	0.16117216117216118	16	0.032520325203252036	78	0.2154696132596685	77	0.1346153846153846	181	0.23878627968337732	C	0.003	-2.482788	0.00163	0.033028	0.125348	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.56776	0.68;0.44	1.87	-0.596	0.11657	.	2.196060	0.02795	N	0.122470	T	0.00012	0.0000	N	0.14661	0.345	0.38383	P	0.054822999999999955	B;B	0.09022	0.002;0.001	B;B	0.01281	0.0;0.0	T	0.06826	-1.0805	9	0.02654	T	1	.	4.365	0.11220	0.0:0.4294:0.0:0.5706	rs34964084	6;6	Q66K79-2;Q66K79	.;CBPZ_HUMAN	L	6	ENSP00000354255:P6L;ENSP00000315074:P6L	ENSP00000315074:P6L	P	+	2	0	CPZ	8645477	0.001000	0.12720	0.014000	0.15608	0.073000	0.16967	0.039000	0.13884	-0.198000	0.10333	-0.379000	0.06801	CCG		0.756	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
EID2B	126272	mdanderson.org	37	19	40023308	40023308	+	Silent	SNP	A	A	G	rs1123301	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:40023308A>G	ENST00000326282.4	-	1	186	c.135T>C	c.(133-135)gcT>gcC	p.A45A	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTTCCCGAGCCTCCTGCA	0.751													.|||	4013	0.801318	0.8646	0.6484	5008	,	,		13555	0.8442		0.7425	False		,,,				2504	0.8405					.											0								G		3691,533		1630,431,51	7.0	9.0	8.0		135	0.0	0.0	19	dbSNP_86	8	6168,2264		2313,1542,361	no	coding-synonymous	EID2B	NM_152361.1		3943,1973,412	GG,GA,AA		26.8501,12.6184,22.1002		45/162	40023308	9859,2797	2112	4216	6328	SO:0001819	synonymous_variant	126272			AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.135T>C	19.37:g.40023308A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000326282.4	37	CCDS12539.1																																																																																				0.751	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361	
FAM182A	284800	mdanderson.org	37	20	26061818	26061818	+	RNA	SNP	G	G	C	rs112101451		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr20:26061818G>C	ENST00000376398.2	+	0	838					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						GATTTCTCCTGCTTAGAAATG	0.463																																						.											0													12.0	11.0	11.0					20																	26061818		692	1579	2271			284800			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061818G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRD0|Q8N947	RNA	SNP	ENST00000376398.2	37		.	.	.	.	.	.	.	.	.	.	N	7.694	0.691703	0.15039	.	.	ENSG00000125804	ENST00000376398;ENST00000246000	.	.	.	0.368	0.368	0.16146	.	.	.	.	.	T	0.47322	0.1439	.	.	.	0.30118	N	0.805912	.	.	.	.	.	.	T	0.53092	-0.8487	4	0.87932	D	0	.	.	.	.	.	.	.	.	S	57	.	ENSP00000246000:C57S	C	+	2	0	FAM182A	26009818	1.000000	0.71417	0.427000	0.26684	0.468000	0.32798	0.774000	0.26675	0.451000	0.26802	0.123000	0.15791	TGC		0.463	FAM182A-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000078473.2		
FRG1	2483	mdanderson.org	37	4	190873379	190873379	+	Missense_Mutation	SNP	A	A	G	rs112612436		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:190873379A>G	ENST00000226798.4	+	3	418	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	66			K -> E (in dbSNP:rs17406826).		mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K66E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGAAATGGATAAGGGAACCTA	0.383																																						.											1	Substitution - Missense(1)	skin(1)											101.0	115.0	110.0					4																	190873379		2203	4298	6501	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.196A>G	4.37:g.190873379A>G	ENSP00000226798:p.Lys66Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.608104	0.28623	.	.	ENSG00000109536	ENST00000226798;ENST00000531991	T;T	0.44083	2.07;0.93	3.47	2.23	0.28157	Actin cross-linking (1);	0.148940	0.64402	D	0.000013	T	0.29288	0.0729	L	0.52011	1.625	0.42341	D	0.992332	B	0.02656	0.0	B	0.04013	0.001	T	0.10314	-1.0635	10	0.06757	T	0.87	-8.6418	8.2577	0.31766	0.7983:0.2017:0.0:0.0	rs17406826	66	Q14331	FRG1_HUMAN	E	66;3	ENSP00000226798:K66E;ENSP00000435943:K3E	ENSP00000226798:K66E	K	+	1	0	FRG1	191110373	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.931000	0.48932	0.668000	0.31126	0.441000	0.28932	AAG		0.383	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
GGT1	2678	mdanderson.org	37	22	25023459	25023459	+	Missense_Mutation	SNP	G	G	C	rs138813205	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr22:25023459G>C	ENST00000400382.1	+	12	1836	c.1081G>C	c.(1081-1083)Gac>Cac	p.D361H	GGT1_ENST00000400383.1_Missense_Mutation_p.D361H|GGT1_ENST00000404920.1_Missense_Mutation_p.D17H|GGT1_ENST00000403838.1_Missense_Mutation_p.D17H|GGT1_ENST00000248923.4_Missense_Mutation_p.D361H|GGT1_ENST00000406383.2_Missense_Mutation_p.D361H|GGT1_ENST00000400380.1_Missense_Mutation_p.D361H|GGT1_ENST00000404532.1_Missense_Mutation_p.D17H|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Missense_Mutation_p.D17H|GGT1_ENST00000401885.1_Missense_Mutation_p.D17H			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	361				D -> H (in Ref. 10; AAI28240). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.D361H(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATCTCTGACGACACCACTCA	0.642																																						.											1	Substitution - Missense(1)	prostate(1)											37.0	38.0	38.0					22																	25023459		2200	4293	6493	SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1081G>C	22.37:g.25023459G>C	ENSP00000383232:p.Asp361His	Somatic		WXS	Illumina HiSeq	Phase_I	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	44	0.020146520146520148	3	0.006097560975609756	3	0.008287292817679558	5	0.008741258741258742	33	0.04353562005277045	.	6.591	0.477472	0.12521	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	T;T;T;T;T;T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23	3.4	-2.55	0.06288	.	0.371845	0.29046	N	0.013305	T	0.02119	0.0066	M	0.79614	2.46	0.29276	N	0.870324	B	0.17465	0.022	B	0.22152	0.038	T	0.14559	-1.0468	10	0.45353	T	0.12	-4.1646	8.9526	0.35799	0.6006:0.0:0.3994:0.0	.	361	P19440	GGT1_HUMAN	H	361;361;361;361;361;361;17;17;17;17;17	ENSP00000248923:D361H;ENSP00000393537:D361H;ENSP00000383232:D361H;ENSP00000383233:D361H;ENSP00000383231:D361H;ENSP00000385975:D361H;ENSP00000384381:D17H;ENSP00000385445:D17H;ENSP00000384820:D17H;ENSP00000385016:D17H;ENSP00000385001:D17H	ENSP00000248923:D361H	D	+	1	0	GGT1	23353459	0.054000	0.20591	0.000000	0.03702	0.103000	0.19146	0.359000	0.20233	-0.295000	0.08960	0.298000	0.19748	GAC		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
HLA-C	3107	mdanderson.org	37	6	31239006	31239006	+	Missense_Mutation	SNP	G	G	T	rs76907552		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:31239006G>T	ENST00000376228.5	-	3	477	c.463C>A	c.(463-465)Cgc>Agc	p.R155S	HLA-C_ENST00000383329.3_Missense_Mutation_p.R155S	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	155	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.R155S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTCCAGGAGCGCAGGTCCTCG	0.697																																						.											1	Substitution - Missense(1)	skin(1)											35.0	27.0	30.0					6																	31239006		2178	4236	6414	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.463C>A	6.37:g.31239006G>T	ENSP00000365402:p.Arg155Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	539|539	0.2467948717948718|0.2467948717948718	144|144	0.2926829268292683|0.2926829268292683	105|105	0.2900552486187845|0.2900552486187845	109|109	0.19055944055944055|0.19055944055944055	181|181	0.23878627968337732|0.23878627968337732	.|.	13.99|13.99	2.401987|2.401987	0.42613|0.42613	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00753	.|5.74;5.74	2.81|2.81	0.177|0.177	0.15054|0.15054	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.196610	.|0.06966	.|N	.|0.817182	T|T	0.01287|0.01287	0.0042|0.0042	M|M	0.71206|0.71206	2.165|2.165	0.42157|0.42157	P|P	0.008411999999999975|0.008411999999999975	.|D;B;D;B	.|0.63046	.|0.992;0.016;0.992;0.005	.|D;B;D;B	.|0.85130	.|0.997;0.103;0.997;0.049	T|T	0.46898|0.46898	-0.9158|-0.9158	4|9	.|0.54805	.|T	.|0.06	.|.	5.7525|5.7525	0.18154|0.18154	0.0:0.1715:0.3014:0.5271|0.0:0.1715:0.3014:0.5271	.|.	.|155;155;155;155	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	E|S	154|155;155;155;192	.|ENSP00000365402:R155S;ENSP00000372819:R155S	.|ENSP00000365402:R155S	A|R	-|-	2|1	0|0	HLA-C|HLA-C	31346985|31346985	0.000000|0.000000	0.05858|0.05858	0.994000|0.994000	0.49952|0.49952	0.090000|0.090000	0.18270|0.18270	-1.467000|-1.467000	0.02352|0.02352	0.025000|0.025000	0.15241|0.15241	-0.692000|-0.692000	0.03713|0.03713	GCG|CGC		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117	
HOOK2	29911	mdanderson.org	37	19	12876964	12876964	+	Missense_Mutation	SNP	G	G	C	rs897804	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:12876964G>C	ENST00000397668.3	-	15	1537	c.1464C>G	c.(1462-1464)caC>caG	p.H488Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.H488Q	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	488	Sufficient for interaction with microtubules.		H -> Q (in dbSNP:rs897804). {ECO:0000269|PubMed:15489334}.		early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CATCCTCCAGGTGGCGCTGCA	0.706											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1086	0.216853	0.0325	0.2939	5008	,	,		12044	0.2321		0.4394	False		,,,				2504	0.1667					.											0								G	GLN/HIS,GLN/HIS	323,3541		20,283,1629	10.0	13.0	12.0		1464,1464	3.7	1.0	19	dbSNP_87	12	3246,5000		672,1902,1549	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	24,24	692,2185,3178	CC,CG,GG		39.3645,8.3592,29.4715	benign,benign	488/718,488/720	12876964	3569,8541	1932	4123	6055	SO:0001583	missense	29911			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1464C>G	19.37:g.12876964G>C	ENSP00000380785:p.His488Gln	Somatic	683	WXS	Illumina HiSeq	Phase_I	O60562	Missense_Mutation	SNP	ENST00000397668.3	37	CCDS42508.1	599	0.2742673992673993	19	0.03861788617886179	120	0.3314917127071823	121	0.21153846153846154	339	0.4472295514511873	G	13.50	2.255926	0.39896	0.083592	0.393645	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.15718	2.4;2.4	4.77	3.69	0.42338	.	0.449885	0.22723	N	0.056436	T	0.00012	0.0000	N	0.04959	-0.14	0.32618	P	0.5237350000000001	B;B	0.15473	0.01;0.013	B;B	0.14023	0.006;0.01	T	0.47935	-0.9078	9	0.20046	T	0.44	-30.7248	6.3	0.21107	0.1135:0.3067:0.5798:0.0	rs897804;rs17850914;rs897804	488;488	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	Q	488	ENSP00000380785:H488Q;ENSP00000264827:H488Q	ENSP00000264827:H488Q	H	-	3	2	HOOK2	12737964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.363000	0.34159	2.174000	0.68829	0.467000	0.42956	CAC		0.706	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312	
IGSF3	3321	mdanderson.org	37	1	117158772	117158772	+	Silent	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:117158772C>T	ENST00000369486.3	-	3	1116	c.351G>A	c.(349-351)gaG>gaA	p.E117E	IGSF3_ENST00000369483.1_Silent_p.E117E|IGSF3_ENST00000318837.6_Silent_p.E117E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	117	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.E117E(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCATTCATACTCCCCGGCAT	0.527																																						.											2	Substitution - coding silent(2)	endometrium(2)											56.0	51.0	53.0					1																	117158772		2203	4300	6503	SO:0001819	synonymous_variant	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.351G>A	1.37:g.117158772C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
KIAA0319	9856	mdanderson.org	37	6	24551664	24551664	+	Missense_Mutation	SNP	T	T	C	rs807534	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:24551664T>C	ENST00000378214.3	-	20	3562	c.3038A>G	c.(3037-3039)tAt>tGt	p.Y1013C	KIAA0319_ENST00000535378.1_Missense_Mutation_p.Y1004C|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Y968C|KIAA0319_ENST00000537886.1_Intron|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Y1013C	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1013			Y -> C (in dbSNP:rs807534).		negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTCTTACCATATTTGGGCCT	0.423													T|||	485	0.096845	0.0832	0.0922	5008	,	,		20835	0.0764		0.1272	False		,,,				2504	0.1084					.											0								T	CYS/TYR,CYS/TYR,CYS/TYR,,CYS/TYR	415,3991	202.1+/-225.0	20,375,1808	351.0	275.0	301.0		3011,3038,2903,,3038	0.2	1.0	6	dbSNP_86	301	1149,7451	235.7+/-268.2	75,999,3226	yes	missense,missense,missense,intron,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	194,194,194,,194	95,1374,5034	CC,CT,TT		13.3605,9.419,12.0252	probably-damaging,probably-damaging,probably-damaging,,probably-damaging	1004/1064,1013/1073,968/1028,,1013/1073	24551664	1564,11442	2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3038A>G	6.37:g.24551664T>C	ENSP00000367459:p.Tyr1013Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	220	0.10073260073260074	43	0.08739837398373984	40	0.11049723756906077	38	0.06643356643356643	99	0.13060686015831136	T	14.94	2.686305	0.47991	0.09419	0.133605	ENSG00000137261	ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	4.56	0.197	0.15164	.	0.307026	0.26855	N	0.022150	T	0.08403	0.0209	L	0.48362	1.52	0.28285	P	0.9238074000000001	D;D	0.89917	1.0;0.999	D;P	0.65874	0.939;0.87	T	0.09640	-1.0665	9	0.38643	T	0.18	-14.3463	10.4006	0.44227	0.3848:0.0:0.0:0.6152	rs807534;rs52812688;rs56987247;rs807534	1004;1013	Q5VV43-2;Q5VV43	.;K0319_HUMAN	C	1004;968;1013;1013	ENSP00000442403:Y1004C;ENSP00000401086:Y968C;ENSP00000367459:Y1013C;ENSP00000437656:Y1013C	ENSP00000367459:Y1013C	Y	-	2	0	KIAA0319	24659643	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	1.674000	0.37544	0.216000	0.20781	0.454000	0.30748	TAT		0.423	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
KIF18A	81930	mdanderson.org	37	11	28119446	28119446	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:28119446G>A	ENST00000263181.6	-	2	339	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R17C(3)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGACGTACACGAACTACTACT	0.363																																						.											3	Substitution - Missense(3)	large_intestine(3)											166.0	158.0	161.0					11																	28119446		2202	4299	6501	SO:0001583	missense	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.49C>T	11.37:g.28119446G>A	ENSP00000263181:p.Arg17Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537380	0.85917	.	.	ENSG00000121621	ENST00000263181	D	0.86694	-2.16	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	.	19.823	0.96605	0.0:0.0:1.0:0.0	.	17;17	B2R6H3;Q8NI77	.;KI18A_HUMAN	C	17	ENSP00000263181:R17C	ENSP00000263181:R17C	R	-	1	0	KIF18A	28076022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.770000	0.95276	0.650000	0.86243	CGT		0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
KRT5	3852	mdanderson.org	37	12	52912805	52912805	+	Missense_Mutation	SNP	C	C	T	rs200333163	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr12:52912805C>T	ENST00000252242.4	-	2	1085	c.695G>A	c.(694-696)aGc>aAc	p.S232N		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	232	Coil 1B.|Rod.		S -> N (in dbSNP:rs3194286).		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCACGATGCTGTCCAGCTG	0.587																																						.											0													173.0	159.0	164.0					12																	52912805		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.695G>A	12.37:g.52912805C>T	ENSP00000252242:p.Ser232Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	CCDS8830.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.596|3.596	-0.082580|-0.082580	0.07141|0.07141	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000551188|ENST00000252242;ENST00000456000;ENST00000549420	.|D;D	.|0.88431	.|-2.38;-2.35	5.22|5.22	2.35|2.35	0.29111|0.29111	.|Filament (1);	.|1.042650	.|0.07529	.|N	.|0.911826	T|T	0.82010|0.82010	0.4944|0.4944	N|N	0.25332|0.25332	0.735|0.735	0.09310|0.09310	N|N	1|1	.|B	.|0.24092	.|0.097	.|B	.|0.25140	.|0.058	T|T	0.67313|0.67313	-0.5702|-0.5702	5|10	.|0.34782	.|T	.|0.22	.|.	8.0486|8.0486	0.30564|0.30564	0.0:0.4939:0.368:0.1381|0.0:0.4939:0.368:0.1381	.|.	.|232	.|P13647	.|K2C5_HUMAN	T|N	33|232;197;122	.|ENSP00000252242:S232N;ENSP00000447209:S122N	.|ENSP00000252242:S232N	A|S	-|-	1|2	0|0	KRT5|KRT5	51199072|51199072	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.063000|0.063000	0.16089|0.16089	-0.018000|-0.018000	0.12568|0.12568	0.336000|0.336000	0.23639|0.23639	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.587	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRTAP9-2	83899	mdanderson.org	37	17	39383027	39383027	+	Missense_Mutation	SNP	G	G	T	rs71371478	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:39383027G>T	ENST00000377721.3	+	1	128	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.A41S	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	41	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.A41S(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCAGCCCGCCTGCTGTGT	0.637																																						.											1	Substitution - Missense(1)	skin(1)											59.0	53.0	55.0					17																	39383027		2203	4300	6503	SO:0001583	missense	83899			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.121G>T	17.37:g.39383027G>T	ENSP00000366950:p.Ala41Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.020245	0.00418	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01192	5.2;5.4	2.86	-2.81	0.05805	.	.	.	.	.	T	0.00328	0.0010	N	0.00368	-1.59	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.39742	-0.9599	9	0.02654	T	1	.	5.0512	0.14508	0.3642:0.0:0.0934:0.5425	.	41	Q9BYQ4	KRA92_HUMAN	S	41	ENSP00000366950:A41S;ENSP00000398325:A41S	ENSP00000366950:A41S	A	+	1	0	KRTAP9-2	36636553	0.000000	0.05858	0.088000	0.20740	0.203000	0.24098	-1.973000	0.01500	-1.243000	0.02519	-4.519000	0.00005	GCC		0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1		
MIR520F	574464	mdanderson.org	37	19	54188309	54188309	+	RNA	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:54188309A>G	ENST00000384824.1	+	0	87				MIR515-2_ENST00000384883.1_RNA|MIR519C_ENST00000385053.1_RNA	NR_030186.1				microRNA 520f																		GTTGTCTGAAAGCAGAGTGCC	0.423																																						.											0													80.0	75.0	76.0					19																	54188309		1568	3579	5147			574462					19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1				19.37:g.54188309A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000384824.1	37																																																																																					0.423	MIR520F-201	KNOWN	basic	miRNA	miRNA		NR_030186	
MUC4	4585	mdanderson.org	37	3	195506425	195506425	+	Missense_Mutation	SNP	A	A	G	rs201051713		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:195506425A>G	ENST00000463781.3	-	2	12485	c.12026T>C	c.(12025-12027)gTa>gCa	p.V4009A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V4009A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTAGATACTGAGGAAGT	0.597																																						.											0													17.0	15.0	16.0					3																	195506425		642	1502	2144	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12026T>C	3.37:g.195506425A>G	ENSP00000417498:p.Val4009Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	1.027	-0.683130	0.03353	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.21;1.18	0.764	-0.961	0.10337	.	0.000000	0.24912	N	0.034619	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.25884	0.064	T	0.19386	-1.0307	9	.	.	.	.	4.323	0.11027	0.4769:0.0:0.5231:0.0	.	3881	E7ESK3	.	A	4009	ENSP00000417498:V4009A;ENSP00000420243:V4009A	.	V	-	2	0	MUC4	196991204	0.015000	0.18098	0.000000	0.03702	0.046000	0.14306	1.021000	0.30040	-0.242000	0.09667	0.055000	0.15244	GTA		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506450	195506450	+	Missense_Mutation	SNP	G	G	C	rs201981197		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:195506450G>C	ENST00000463781.3	-	2	12460	c.12001C>G	c.(12001-12003)Ctt>Gtt	p.L4001V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L4001V|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGCG	0.602																																						.											0													16.0	12.0	14.0					3																	195506450		666	1491	2157	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12001C>G	3.37:g.195506450G>C	ENSP00000417498:p.Leu4001Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.028	-1.353378	0.01256	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37235	1.35;1.21	0.764	-1.53	0.08611	.	0.000000	0.23012	U	0.052950	T	0.26882	0.0658	N	0.08118	0	0.09310	N	1	D	0.53312	0.959	D	0.65443	0.935	T	0.30238	-0.9985	9	.	.	.	.	3.1641	0.06530	0.0:0.2341:0.3035:0.4624	.	3873	E7ESK3	.	V	4001	ENSP00000417498:L4001V;ENSP00000420243:L4001V	.	L	-	1	0	MUC4	196991229	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-0.139000	0.10358	-1.430000	0.01985	0.064000	0.15345	CTT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1016885	1016885	+	Silent	SNP	A	A	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1016885A>C	ENST00000421673.2	-	31	5966	c.5916T>G	c.(5914-5916)ccT>ccG	p.P1972P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1972	Thr-rich.			P -> S (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTCCCTGTAGGTGGGGAGT	0.592																																						.											0													1108.0	1117.0	1114.0					11																	1016885		2203	4298	6501	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5916T>G	11.37:g.1016885A>C		Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.592	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1018341	1018341	+	Missense_Mutation	SNP	G	G	A	rs79748612		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:1018341G>A	ENST00000421673.2	-	31	4510	c.4460C>T	c.(4459-4461)cCa>cTa	p.P1487L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1487	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCGTTGTTGGTGGAGGAAT	0.572																																						.											0													267.0	273.0	271.0					11																	1018341		2184	4268	6452	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4460C>T	11.37:g.1018341G>A	ENSP00000406861:p.Pro1487Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696448	0.15106	.	.	ENSG00000184956	ENST00000421673	T	0.20881	2.04	2.58	0.531	0.17108	.	.	.	.	.	T	0.18299	0.0439	L	0.47190	1.495	0.09310	N	1	B	0.19935	0.04	B	0.12156	0.007	T	0.20806	-1.0264	9	0.46703	T	0.11	.	9.5369	0.39229	0.0:0.0:0.7093:0.2907	.	1487	Q6W4X9	MUC6_HUMAN	L	1487	ENSP00000406861:P1487L	ENSP00000406861:P1487L	P	-	2	0	MUC6	1008341	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.540000	0.23191	-0.007000	0.14345	-1.159000	0.01794	CCA		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
NBPF14	25832	mdanderson.org	37	1	148004733	148004733	+	Missense_Mutation	SNP	T	T	C	rs78149412	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:148004733T>C	ENST00000369219.1	-	22	2597	c.2581A>G	c.(2581-2583)Ata>Gta	p.I861V				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	861	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAATAACATATATCCAGTGAG	0.443													-|||	115	0.0229633	0.0741	0.0072	5008	,	,		21040	0.0		0.008	False		,,,				2504	0.0041					.											0													136.0	204.0	182.0					1																	148004733		1971	4174	6145	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2581A>G	1.37:g.148004733T>C	ENSP00000358221:p.Ile861Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	0.096|0.096	-1.159114|-1.159114	0.01686|0.01686	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000369368	.|T	.|0.05786	.|3.39	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.00666|0.00666	0.0022|0.0022	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.0;0.009;0.005	.|B;B;B	.|0.11329	.|0.001;0.006;0.006	T|T	0.46442|0.46442	-0.9191|-0.9191	3|7	.|0.51188	.|T	.|0.08	.|.	.|.	.|.	.|.	.|.	.|209;842;861	.|F8WEX8;B4DH59;Q5TI25	.|.;.;NBPFE_HUMAN	M|V	866|861;209	.|ENSP00000358221:I861V	.|ENSP00000358221:I861V	I|I	-|-	3|1	3|0	NBPF14|NBPF14	146471357|146471357	0.689000|0.689000	0.27690|0.27690	0.004000|0.004000	0.12327|0.12327	0.022000|0.022000	0.10575|0.10575	-0.736000|-0.736000	0.04882|0.04882	-0.512000|-0.512000	0.06505|0.06505	0.055000|0.055000	0.15244|0.15244	ATA|ATA		0.443	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383	
NEUROG2	63973	mdanderson.org	37	4	113436044	113436044	+	Silent	SNP	T	T	G	rs901474	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr4:113436044T>G	ENST00000313341.3	-	2	914	c.588A>C	c.(586-588)ggA>ggC	p.G196G	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	196					axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGCGCTGGCTCCTCCCGGGC	0.731													G|||	4797	0.957867	0.9955	0.9337	5008	,	,		9350	1.0		0.8628	False		,,,				2504	0.9785					.											0								G		4270,104		2083,104,0	17.0	21.0	19.0		588	-1.3	0.0	4	dbSNP_86	19	7351,1195		3177,997,99	no	coding-synonymous	NEUROG2	NM_024019.2		5260,1101,99	GG,GT,TT		13.9832,2.3777,10.0542		196/273	113436044	11621,1299	2187	4273	6460	SO:0001819	synonymous_variant	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.588A>C	4.37:g.113436044T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N416	Silent	SNP	ENST00000313341.3	37	CCDS3698.1																																																																																				0.731	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019	
OR2J3	442186	mdanderson.org	37	6	29080088	29080088	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:29080088C>T	ENST00000377169.1	+	1	421	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CCTCATGCACCCTCGTTTCTG	0.517																																						.											0													385.0	415.0	405.0					6																	29080088		1399	2637	4036	SO:0001583	missense	442186				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.421C>T	6.37:g.29080088C>T	ENSP00000366374:p.Pro141Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	6.734	0.504144	0.12822	.	.	ENSG00000204701	ENST00000377169	T	0.01369	4.97	2.76	0.879	0.19155	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.53729	1.69	0.09310	N	1	P	0.42375	0.778	B	0.40009	0.316	T	0.48822	-0.9001	9	0.56958	D	0.05	.	2.4912	0.04610	0.367:0.3596:0.0:0.2735	.	141	O76001	OR2J3_HUMAN	S	141	ENSP00000366374:P141S	ENSP00000366374:P141S	P	+	1	0	OR2J3	29188067	0.000000	0.05858	0.988000	0.46212	0.150000	0.21749	-2.750000	0.00793	0.483000	0.27608	-0.466000	0.05196	CCT		0.517	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2		
PABPC1	26986	mdanderson.org	37	8	101727714	101727714	+	Missense_Mutation	SNP	G	G	A	rs200538577		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:101727714G>A	ENST00000318607.5	-	4	1747	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.L175F|PABPC1_ENST00000519004.1_Missense_Mutation_p.L162F	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	207	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AGATCCTTAAGGCGCTCATCA	0.353																																						.											0																																										SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.619C>T	8.37:g.101727714G>A	ENSP00000313007:p.Leu207Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.505208|3.505208	0.64410|0.64410	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519596;ENST00000523555	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.56097|.	D|.	0.000038|.	T|T	0.78566|0.78566	0.4303|0.4303	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.97;0.987|.	T|T	0.79738|0.79738	-0.1677|-0.1677	10|5	0.36615|.	T|.	0.2|.	.|.	18.734|18.734	0.91748|0.91748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175;207;207|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	F|L	207;207;162;175|39;153	ENSP00000313007:L207F;ENSP00000429594:L162F;ENSP00000429395:L175F|.	ENSP00000313007:L207F|.	L|P	-|-	1|2	0|0	PABPC1|PABPC1	101796890|101796890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.947000|7.947000	0.87758|0.87758	2.482000|2.482000	0.83794|0.83794	0.585000|0.585000	0.79938|0.79938	CTT|CCT		0.353	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
PSPC1	55269	mdanderson.org	37	13	20279923	20279923	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr13:20279923A>G	ENST00000338910.4	-	8	1424	c.1265T>C	c.(1264-1266)aTg>aCg	p.M422T		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	422	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATTCATACCCATCATTGGAGG	0.468																																						.											0													145.0	149.0	148.0					13																	20279923		1886	4123	6009	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1265T>C	13.37:g.20279923A>G	ENSP00000343966:p.Met422Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865591	0.32977	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14640	2.49	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.46157	1.445	0.58432	D	0.999996	P	0.40431	0.717	P	0.49047	0.599	T	0.02109	-1.1212	10	0.22706	T	0.39	-8.3789	15.2195	0.73299	1.0:0.0:0.0:0.0	.	422	Q8WXF1	PSPC1_HUMAN	T	422;362	ENSP00000343966:M422T	ENSP00000343966:M422T	M	-	2	0	PSPC1	19177923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.224000	0.89781	2.001000	0.58596	0.402000	0.26972	ATG		0.468	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		
RBMXL1	494115	mdanderson.org	37	1	89449141	89449141	+	Silent	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr1:89449141A>G	ENST00000321792.5	-	2	796	c.369T>C	c.(367-369)ccT>ccC	p.P123P	RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Silent_p.P123P	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	123					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CTCCTCGTGAAGGAGGTCCCC	0.512																																						.											0													104.0	112.0	110.0					1																	89449141		2203	4300	6503	SO:0001819	synonymous_variant	494115			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.369T>C	1.37:g.89449141A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000321792.5	37	CCDS716.1																																																																																				0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610	
RNF145	153830	mdanderson.org	37	5	158630641	158630641	+	5'UTR	SNP	C	C	T	rs74770414|rs74841177|rs368977591		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:158630641C>T	ENST00000424310.2	-	0	344				RNF145_ENST00000274542.2_Silent_p.K23K|RNF145_ENST00000520638.1_Silent_p.K9K|RNF145_ENST00000518802.1_Silent_p.K25K|RNF145_ENST00000521606.2_Silent_p.K12K|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttctttttttttt	0.363																																						.											0													32.0	34.0	33.0					5																	158630641		2203	4300	6503	SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-16G>A	5.37:g.158630641C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
TNFRSF10B	8795	mdanderson.org	37	8	22926313	22926313	+	Missense_Mutation	SNP	G	G	A	rs1129424	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:22926313G>A	ENST00000276431.4	-	1	379	c.95C>T	c.(94-96)cCc>cTc	p.P32L	TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.P32L|RP11-875O11.2_ENST00000501897.1_RNA|RP11-875O11.3_ENST00000520840.1_RNA|TNFRSF10B_ENST00000542226.1_5'UTR	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	32			P -> L (in dbSNP:rs1129424). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005, ECO:0000269|PubMed:9242611, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9325248, ECO:0000269|PubMed:9373179, ECO:0000269|PubMed:9430227, ECO:0000269|Ref.11}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGACCCGGGGCCCAGGCCT	0.736													A|||	3753	0.749401	0.7753	0.7493	5008	,	,		13116	0.9107		0.5924	False		,,,				2504	0.7096				GBM(94;1064 1342 1839 21060 42553)	.											0								A	LEU/PRO,LEU/PRO	3291,1103		1260,771,166	13.0	16.0	15.0		95,95	0.1	0.0	8	dbSNP_86	15	5180,3384		1603,1974,705	yes	missense,missense	TNFRSF10B	NM_003842.4,NM_147187.2	98,98	2863,2745,871	AA,AG,GG		39.5142,25.1024,34.6273	benign,benign	32/441,32/412	22926313	8471,4487	2197	4282	6479	SO:0001583	missense	8795			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.95C>T	8.37:g.22926313G>A	ENSP00000276431:p.Pro32Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	ENST00000276431.4	37	CCDS6035.1	1624	0.7435897435897436	384	0.7804878048780488	269	0.7430939226519337	520	0.9090909090909091	451	0.5949868073878628	a	0.028	-1.358005	0.01245	0.748976	0.604858	ENSG00000120889	ENST00000276431;ENST00000347739	T;D	0.83163	-1.44;-1.69	1.32	0.126	0.14722	.	0.377447	0.15516	N	0.258310	T	0.00012	0.0000	N	0.00321	-1.65	0.51482	P	7.900000000005125E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30851	-0.9964	9	0.07482	T	0.82	.	4.2483	0.10682	0.4549:0.0:0.5451:0.0	rs1129424;rs1805039;rs3187295;rs17088926;rs17855358;rs57417067	32;32	O14763;O14763-2	TR10B_HUMAN;.	L	32	ENSP00000276431:P32L;ENSP00000317859:P32L	ENSP00000276431:P32L	P	-	2	0	TNFRSF10B	22982258	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.111000	0.10807	-0.291000	0.09012	-0.521000	0.04368	CCC		0.736	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187	
TRPC6	7225	mdanderson.org	37	11	101454192	101454192	+	Missense_Mutation	SNP	G	G	A	rs3802829	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:101454192G>A	ENST00000344327.3	-	1	467	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	TRPC6_ENST00000360497.4_Missense_Mutation_p.P15S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P15S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P15S|TRPC6_ENST00000526713.1_Intron|RP11-748H22.1_ENST00000527374.1_RNA	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	15					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCGCCCCGGGGAGAACTGCCC	0.741													G|||	339	0.0676917	0.0038	0.0605	5008	,	,		10026	0.13		0.1064	False		,,,				2504	0.0552				Colon(166;1315 1927 11094 12848 34731)	.											0								G	SER/PRO	76,3982		3,70,1956	5.0	7.0	6.0		43	4.6	0.7	11	dbSNP_107	6	680,7230		20,640,3295	no	missense	TRPC6	NM_004621.5	74	23,710,5251	AA,AG,GG		8.5967,1.8728,6.3168	benign	15/932	101454192	756,11212	2029	3955	5984	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.43C>T	11.37:g.101454192G>A	ENSP00000340913:p.Pro15Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	178	0.0815018315018315	0	0.0	26	0.0718232044198895	73	0.12762237762237763	79	0.10422163588390501	G	10.08	1.252041	0.22880	0.018728	0.085967	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.79141	-1.04;-1.13;-1.0;-1.24	4.61	4.61	0.57282	.	1.645960	0.03897	N	0.279764	T	0.01387	0.0045	N	0.08118	0	0.48236	P	3.809999999999647E-4	B;B;B	0.26512	0.151;0.151;0.093	B;B;B	0.32864	0.154;0.154;0.074	T	0.10291	-1.0636	9	0.20046	T	0.44	-1.4425	12.9414	0.58348	0.0:0.0:1.0:0.0	rs3802829	15;15;15	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	15	ENSP00000340913:P15S;ENSP00000435574:P15S;ENSP00000343672:P15S;ENSP00000353687:P15S	ENSP00000340913:P15S	P	-	1	0	TRPC6	100959402	0.971000	0.33674	0.702000	0.30337	0.033000	0.12548	2.484000	0.45242	2.100000	0.63781	0.561000	0.74099	CCC		0.741	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
UBR3	130507	mdanderson.org	37	2	170684548	170684548	+	Silent	SNP	G	G	A	rs79036304	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr2:170684548G>A	ENST00000272793.5	+	1	581	c.531G>A	c.(529-531)gtG>gtA	p.V177V	UBR3_ENST00000418381.1_Silent_p.V177V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	177					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACAGCAACGTGATGCGGGAGA	0.726													g|||	320	0.0638978	0.174	0.0461	5008	,	,		9387	0.0109		0.0258	False		,,,				2504	0.0215					.											0													6.0	6.0	6.0					2																	170684548		685	1551	2236	SO:0001819	synonymous_variant	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.531G>A	2.37:g.170684548G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37																																																																																					0.726	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
UEVLD	55293	mdanderson.org	37	11	18579859	18579859	+	Missense_Mutation	SNP	C	C	A	rs199752573		TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:18579859C>A	ENST00000541984.1	-	5	393	c.331G>T	c.(331-333)Gtc>Ttc	p.V111F	UEVLD_ENST00000535484.1_Missense_Mutation_p.V173F|UEVLD_ENST00000320750.6_Missense_Mutation_p.V189F|UEVLD_ENST00000543987.1_Missense_Mutation_p.V211F|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.V189F|UEVLD_ENST00000396197.3_Missense_Mutation_p.V211F	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTAAGAGGACAAGCCTGTCT	0.423																																						.											0													103.0	84.0	90.0					11																	18579859		2199	4293	6492	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.331G>T	11.37:g.18579859C>A	ENSP00000437538:p.Val111Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827481	0.50845	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000541984	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.53	3.63	0.41609	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.194259	0.44285	D	0.000473	D	0.94238	0.8150	M	0.91196	3.185	0.80722	D	1	D;P;D;D	0.58268	0.982;0.813;0.962;0.982	D;P;P;D	0.64144	0.922;0.566;0.785;0.922	D	0.93517	0.6858	10	0.87932	D	0	-7.0358	9.1174	0.36766	0.0:0.7685:0.1523:0.0792	.	189;189;211;211	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	F	211;173;211;189;189;111	ENSP00000442974:V211F;ENSP00000441092:V173F;ENSP00000379500:V211F;ENSP00000323353:V189F;ENSP00000368697:V189F;ENSP00000437538:V111F	ENSP00000323353:V189F	V	-	1	0	UEVLD	18536435	0.994000	0.37717	0.988000	0.46212	0.248000	0.25809	2.161000	0.42358	0.662000	0.31006	0.591000	0.81541	GTC		0.423	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314	
UNC93A	54346	mdanderson.org	37	6	167728900	167728900	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr6:167728900T>C	ENST00000230256.3	+	8	1509	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	UNC93A_ENST00000366829.2_Missense_Mutation_p.V403A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	445			V -> A. {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V445A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAGGACAGGTCAACCAGGCA	0.522																																						.											1	Substitution - Missense(1)	skin(1)											148.0	161.0	157.0					6																	167728900		2203	4300	6503	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1334T>C	6.37:g.167728900T>C	ENSP00000230256:p.Val445Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	.	.	.	.	.	.	.	.	.	.	C	1.940	-0.443865	0.04604	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.04502	3.61;3.65	3.86	-3.95	0.04118	Major facilitator superfamily domain, general substrate transporter (1);	2.657010	0.01742	N	0.029466	T	0.00412	0.0013	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44513	-0.9323	10	0.09084	T	0.74	0.3159	0.201	0.00145	0.3648:0.155:0.2022:0.2779	.	403;445	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	A	445;403	ENSP00000230256:V445A;ENSP00000355794:V403A	ENSP00000230256:V445A	V	+	2	0	UNC93A	167648890	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.774000	0.04684	-0.778000	0.04566	-0.355000	0.07637	GTC		0.522	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
VCX3B	425054	mdanderson.org	37	X	8434221	8434221	+	Missense_Mutation	SNP	G	G	C			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chrX:8434221G>C	ENST00000381032.1	+	3	845	c.538G>C	c.(538-540)Gtg>Ctg	p.V180L	VCX3B_ENST00000444481.1_Missense_Mutation_p.V150L|VCX3B_ENST00000381029.4_Missense_Mutation_p.V148L|VCX3B_ENST00000440654.2_Missense_Mutation_p.V130L|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	180	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.V150L(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GGAGAGCCAGGTGGAGGAACC	0.587																																						.											1	Substitution - Missense(1)	skin(1)											8.0	22.0	18.0					X																	8434221		1381	3321	4702	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.538G>C	X.37:g.8434221G>C	ENSP00000370420:p.Val180Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	0.012	-1.656353	0.00779	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T	0.18657	2.2;2.68;2.2;2.68	0.828	-1.66	0.08265	.	.	.	.	.	T	0.05960	0.0155	N	0.01109	-1.01	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.39921	-0.9590	9	0.25106	T	0.35	.	7.6676	0.28441	0.0:0.491:0.509:0.0	.	150;130	Q9H321;E7ERZ8	VCX3B_HUMAN;.	L	180;150;130;148	ENSP00000370420:V180L;ENSP00000414780:V150L;ENSP00000410372:V130L;ENSP00000370417:V148L	ENSP00000370417:V148L	V	+	1	0	VCX3B	8394221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.042000	0.03539	-0.757000	0.04697	-1.693000	0.00726	GTG		0.587	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		
ZNF552	79818	mdanderson.org	37	19	58320162	58320162	+	Missense_Mutation	SNP	G	G	A	rs576029108	byFrequency	TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr19:58320162G>A	ENST00000391701.1	-	3	639	c.470C>T	c.(469-471)gCg>gTg	p.A157V	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACACCTCTTCGCAAACAACGC	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21428	0.0		0.0	False		,,,				2504	0.0					.											0													162.0	155.0	157.0					19																	58320162		2203	4300	6503	SO:0001583	missense	79818			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.470C>T	19.37:g.58320162G>A	ENSP00000375582:p.Ala157Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.870767	0.00542	.	.	ENSG00000178935	ENST00000391701	T	0.04083	3.71	1.96	-0.803	0.10886	.	.	.	.	.	T	0.01592	0.0051	N	0.04043	-0.29	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46665	-0.9175	9	0.02654	T	1	.	2.7839	0.05368	0.6156:0.0:0.163:0.2214	.	153;157	B7Z1H1;Q9H707	.;ZN552_HUMAN	V	157	ENSP00000375582:A157V	ENSP00000375582:A157V	A	-	2	0	ZNF552	63011974	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-0.431000	0.06965	0.022000	0.15160	-1.451000	0.01035	GCG		0.478	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762	
UQCC3	790955	bcgsc.ca	37	11	62439458	62439458	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr11:62439458G>A	ENST00000531323.1	+	3	697	c.154G>A	c.(154-156)Gag>Aag	p.E52K	C11orf48_ENST00000354588.3_5'Flank|C11orf48_ENST00000532208.1_5'Flank|C11orf48_ENST00000431002.2_5'Flank|C11orf83_ENST00000377953.3_Missense_Mutation_p.E52K			Q6UW78	CK083_HUMAN		52						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						GAGCAGGGAGGAGGCGGCCAG	0.667																																						.											0													24.0	32.0	29.0					11																	62439458		2188	4290	6478	SO:0001583	missense	790955																														ENST00000531323.1:c.154G>A	11.37:g.62439458G>A	ENSP00000432692:p.Glu52Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5FVD5	Missense_Mutation	SNP	ENST00000531323.1	37	CCDS41658.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814661	0.50527	.	.	ENSG00000204922	ENST00000531323;ENST00000377953	.	.	.	5.08	3.17	0.36434	.	0.157554	0.38217	N	0.001763	T	0.40297	0.1111	.	.	.	0.09310	N	1	P	0.40180	0.705	B	0.41510	0.359	T	0.33343	-0.9872	8	0.87932	D	0	-13.4217	11.9872	0.53155	0.0:0.3702:0.6298:0.0	.	52	Q6UW78	CK083_HUMAN	K	52	.	ENSP00000367189:E52K	E	+	1	0	C11orf83	62196034	0.919000	0.31177	0.041000	0.18516	0.002000	0.02628	2.059000	0.41384	0.800000	0.34041	-0.211000	0.12701	GAG		0.667	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2		
TEX14	56155	bcgsc.ca	37	17	56649410	56649410	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr17:56649410A>G	ENST00000240361.8	-	25	3812	c.3727T>C	c.(3727-3729)Tct>Cct	p.S1243P	TEX14_ENST00000389934.3_Missense_Mutation_p.S1237P|TEX14_ENST00000349033.5_Missense_Mutation_p.S1197P			Q8IWB6	TEX14_HUMAN	testis expressed 14	1243					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCAGCAAGAGGCAAACTCT	0.418																																						.											0													102.0	102.0	102.0					17																	56649410		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3727T>C	17.37:g.56649410A>G	ENSP00000240361:p.Ser1243Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016712	0.35606	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.22539	1.95;1.95;1.95	4.83	4.83	0.62350	.	0.204155	0.35067	N	0.003470	T	0.36276	0.0961	L	0.56769	1.78	0.09310	N	1	D;D;D	0.65815	0.991;0.986;0.995	P;P;P	0.61800	0.786;0.814;0.894	T	0.12344	-1.0551	10	0.45353	T	0.12	-3.6102	10.7272	0.46074	1.0:0.0:0.0:0.0	.	1243;1197;1237	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	P	1243;1237;1197	ENSP00000240361:S1243P;ENSP00000374584:S1237P;ENSP00000268910:S1197P	ENSP00000240361:S1243P	S	-	1	0	TEX14	54004409	0.810000	0.29049	0.007000	0.13788	0.020000	0.10135	2.738000	0.47401	2.039000	0.60335	0.459000	0.35465	TCT		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
SMARCC1	6599	bcgsc.ca	37	3	47651783	47651783	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr3:47651783C>G	ENST00000254480.5	-	26	2935	c.2816G>C	c.(2815-2817)cGc>cCc	p.R939P	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	939					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GAAGTTTTGGCGTTCAGTAAG	0.478																																						.											0													240.0	217.0	225.0					3																	47651783		2203	4300	6503	SO:0001583	missense	6599			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2816G>C	3.37:g.47651783C>G	ENSP00000254480:p.Arg939Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609456	0.66558	.	.	ENSG00000173473	ENST00000254480	T	0.26810	1.71	6.06	6.06	0.98353	.	0.167377	0.53938	D	0.000049	T	0.63838	0.2545	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71013	-0.4715	10	0.87932	D	0	-4.7931	19.6164	0.95636	0.0:1.0:0.0:0.0	.	939	Q92922	SMRC1_HUMAN	P	939	ENSP00000254480:R939P	ENSP00000254480:R939P	R	-	2	0	SMARCC1	47626787	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	7.783000	0.85696	2.871000	0.98454	0.655000	0.94253	CGC		0.478	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1		
GABRB2	2561	bcgsc.ca	37	5	160886708	160886710	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr5:160886708_160886710delCTT	ENST00000393959.1	-	4	377_379	c.378_380delAAG	c.(376-381)aaaagg>aag	p.R127del	GABRB2_ENST00000520240.1_In_Frame_Del_p.R127del|GABRB2_ENST00000353437.6_In_Frame_Del_p.R127del|GABRB2_ENST00000274547.2_In_Frame_Del_p.R127del|GABRB2_ENST00000517901.1_In_Frame_Del_p.R64del|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	127					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACAAATGACTTCTTATCGTTCA	0.458																																						.											0																																										SO:0001651	inframe_deletion	2561				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.378_380delAAG	5.37:g.160886708_160886710delCTT	ENSP00000377531:p.Arg127del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	In_Frame_Del	DEL	ENST00000393959.1	37	CCDS4355.1																																																																																				0.458	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		
SLC13A1	6561	bcgsc.ca	37	7	122759248	122759248	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr7:122759248A>G	ENST00000194130.2	-	13	1438	c.1399T>C	c.(1399-1401)Tca>Cca	p.S467P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	467					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GCTGGTAATGAACCCAGAGGA	0.343																																						.											0													89.0	92.0	91.0					7																	122759248		2203	4300	6503	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1399T>C	7.37:g.122759248A>G	ENSP00000194130:p.Ser467Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670342	0.67814	.	.	ENSG00000081800	ENST00000194130	T	0.03441	3.93	5.53	5.53	0.82687	.	0.346143	0.30752	N	0.008959	T	0.21962	0.0529	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.01753	-1.1281	10	0.42905	T	0.14	-24.1496	14.821	0.70074	1.0:0.0:0.0:0.0	.	467;467	A4D0X1;Q9BZW2	.;S13A1_HUMAN	P	467	ENSP00000194130:S467P	ENSP00000194130:S467P	S	-	1	0	SLC13A1	122546484	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	3.066000	0.50002	2.094000	0.63399	0.482000	0.46254	TCA		0.343	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444	
ZC3H3	23144	bcgsc.ca	37	8	144522319	144522319	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8409-01A-11D-2310-10	TCGA-KO-8409-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8df1eeb4-dfc9-4a0a-8f93-98460c3ab489	ab217c1c-6141-4391-85a8-cacd3c7b1989	g.chr8:144522319A>G	ENST00000262577.5	-	11	2738	c.2707T>C	c.(2707-2709)Tcc>Ccc	p.S903P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	903					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AGCCTGTTGGAGCACGCTGCT	0.662																																						.											0													38.0	35.0	36.0					8																	144522319		2200	4299	6499	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2707T>C	8.37:g.144522319A>G	ENSP00000262577:p.Ser903Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852730	0.32699	.	.	ENSG00000014164	ENST00000262577	T	0.03553	3.89	4.34	1.81	0.25067	.	0.853593	0.09930	N	0.737297	T	0.02767	0.0083	L	0.29908	0.895	0.09310	N	1	B	0.30584	0.286	B	0.24974	0.057	T	0.46898	-0.9158	10	0.87932	D	0	-2.9192	1.404	0.02276	0.5396:0.182:0.1024:0.1761	.	903	Q8IXZ2	ZC3H3_HUMAN	P	903	ENSP00000262577:S903P	ENSP00000262577:S903P	S	-	1	0	ZC3H3	144593462	0.977000	0.34250	0.029000	0.17559	0.277000	0.26821	0.933000	0.28897	0.087000	0.17167	0.383000	0.25322	TCC		0.662	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117	
