#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
CCNL2	81669	broad.mit.edu	37	1	1334663	1334664	+	In_Frame_Ins	INS	-	-	GCCGCC			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:1334663_1334664insGCCGCC	ENST00000400809.3	-	1	28_29	c.23_24insGGCGGC	c.(22-24)gct>gcGGCGGCt	p.8_8A>AAA	CCNL2_ENST00000408918.4_In_Frame_Ins_p.8_8A>AAA|RP4-758J18.2_ENST00000576232.1_5'Flank|MRPL20_ENST00000493287.1_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	8					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTGCAGCACCAgccgccgccgc	0.767																																					p.A8delinsAAA													CCNL2,brain,glioma,-2,1	CCNL2	54	1	0			c.24_25insGGCGGC																																									SO:0001652	inframe_insertion	81669	exon1			AGCACCAGCCGCC	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.18_23dupGGCGGC	1.37:g.1334664_1334669dupGCCGCC	ENSP00000383611:p.AlaAla8dup		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	31	0.23	7	NM_030937	6	0.00	0	A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	In_Frame_Ins	INS	ENST00000400809.3	37	CCDS30557.1																																																																																					0.767	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008146.2		NM_030937	
NPHP4	261734	broad.mit.edu;mdanderson.org	37	1	5935039	5935039	+	Missense_Mutation	SNP	G	G	A	rs199645515		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:5935039G>A	ENST00000378156.4	-	21	3204	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	980					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGTGGAGCGTGTGCTCCGT	0.627																																					p.T980M													.	NPHP4	119		0			c.C2939T												75.0	95.0	88.0					1																	5935039		2187	4271	6458	SO:0001583	missense	261734	exon21			TGGAGCGTGTGCT	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2939C>T	1.37:g.5935039G>A	ENSP00000367398:p.Thr980Met		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	63	0.08	5	NM_015102	26	0.00	0	Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	g	16.54	3.152370	0.57259	.	.	ENSG00000131697	ENST00000378156	D	0.88818	-2.43	4.88	4.88	0.63580	.	0.159288	0.43579	D	0.000554	D	0.94328	0.8177	M	0.77103	2.36	0.44531	D	0.997489	D	0.89917	1.0	D	0.91635	0.999	D	0.95013	0.8153	10	0.72032	D	0.01	.	17.0635	0.86553	0.0:0.0:1.0:0.0	.	980	O75161	NPHP4_HUMAN	M	980	ENSP00000367398:T980M	ENSP00000367398:T980M	T	-	2	0	NPHP4	5857626	1.000000	0.71417	0.914000	0.36105	0.200000	0.23975	5.177000	0.65032	2.272000	0.75746	0.550000	0.68814	ACG			0.627	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001715.2			
KAZN	23254	hgsc.bcm.edu	37	1	15439099	15439099	+	Intron	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:15439099C>T	ENST00000376030.2	+	14	2457					NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein						keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TTTTTTTCTCCTCCCGGGAGC	0.587																																					.													.	.			0			.																																									SO:0001627	intron_variant	200197	.			TTTCTCCTCCCGG	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2163+62C>T	1.37:g.15439099C>T			Somatic	75	0	0		WXS	Illumina HiSeq	.	139	0.05	7	.	2	0.00	0	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	RNA	SNP	ENST00000376030.2	37	CCDS152.2																																																																																					0.587	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005690.2		NM_001017999	
AUNIP	79000	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	26162011	26162013	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:26162011_26162013delAAG	ENST00000374298.3	-	3	599_601	c.545_547delCTT	c.(544-549)tcttgt>tgt	p.S182del	AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_In_Frame_Del_p.S182del	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	182					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											TCTAGCAAACAAGAACTTTCCAA	0.448																																					p.182_183del													.	AUNIP	1		0			c.546_548del																																									SO:0001651	inframe_deletion	79000	exon3			GCAAACAAGAACT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.545_547delCTT	1.37:g.26162011_26162013delAAG	ENSP00000363416:p.Ser182del		Somatic	178	0	0		WXS	Illumina HiSeq	.	188	0.25	47	NM_024037	19	0.00	0	C9EI59|Q53F70	In_Frame_Del	DEL	ENST00000374298.3	37	CCDS266.1																																																																																					0.448	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000019309.2		NM_024037	
GMEB1	10691	broad.mit.edu	37	1	29018151	29018151	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:29018151G>T	ENST00000294409.2	+	4	386	c.296G>T	c.(295-297)tGt>tTt	p.C99F	SCARNA24_ENST00000516968.1_RNA|GMEB1_ENST00000373816.1_Missense_Mutation_p.C89F|GMEB1_ENST00000361872.4_Missense_Mutation_p.C89F|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	99	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATAACTTGTGGGGAGAGC	0.393																																					p.C99F													.	GMEB1	28		0			c.G296T												134.0	122.0	126.0					1																	29018151		2203	4300	6503	SO:0001583	missense	10691	exon4			TAACTTGTGGGGA	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.296G>T	1.37:g.29018151G>T	ENSP00000294409:p.Cys99Phe		Somatic	102	0.0098039216	1		WXS	Illumina HiSeq	Phase_I	90	0.03	3	NM_006582	11	0.00	0	B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332360	0.81801	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	D;D;D	0.87729	-2.29;-2.29;-2.29	5.07	5.07	0.68467	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.91818	3.245	0.50313	D	0.999865	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	D	0.95920	0.8930	10	0.87932	D	0	-0.232	17.2019	0.86908	0.0:0.0:1.0:0.0	.	99;89	Q9Y692;B1AT47	GMEB1_HUMAN;.	F	89;65;89;99	ENSP00000362922:C89F;ENSP00000355186:C89F;ENSP00000294409:C99F	ENSP00000294409:C99F	C	+	2	0	GMEB1	28890738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.350000	0.79820	0.585000	0.79938	TGT			0.393	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000010333.1		NM_006582	
GRIK3	2899	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	37325605	37325605	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:37325605A>G	ENST00000373091.3	-	6	816	c.800T>C	c.(799-801)tTa>tCa	p.L267S	GRIK3_ENST00000373093.4_Missense_Mutation_p.L267S|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	267					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTCCAGGTCTAAAGCGTAGAG	0.562																																					p.L267S													.	GRIK3	195		0			c.T800C												89.0	94.0	93.0					1																	37325605		2203	4300	6503	SO:0001583	missense	2899	exon6			AGGTCTAAAGCGT	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.800T>C	1.37:g.37325605A>G	ENSP00000362183:p.Leu267Ser		Somatic	93	0.0107526882	1		WXS	Illumina HiSeq	Phase_I	123	0.35	43	NM_000831	6	0.50	3	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.235057	0.58886	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.24538	1.85;1.85	5.81	4.67	0.58626	Extracellular ligand-binding receptor (1);	0.161857	0.43260	D	0.000581	T	0.48040	0.1478	M	0.83118	2.625	0.38738	D	0.95381	P;P	0.38473	0.633;0.633	P;P	0.52031	0.688;0.688	T	0.55127	-0.8189	10	0.87932	D	0	.	12.2789	0.54753	0.8727:0.0:0.0:0.1272	.	267;267	A9Z1Z8;Q13003	.;GRIK3_HUMAN	S	267	ENSP00000362183:L267S;ENSP00000362185:L267S	ENSP00000362183:L267S	L	-	2	0	GRIK3	37098192	0.998000	0.40836	0.684000	0.30055	0.465000	0.32709	8.962000	0.93254	1.000000	0.39049	0.533000	0.62120	TTA			0.562	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000012053.1		NM_000831	
SPTA1	6708	mdanderson.org	37	1	158609464	158609464	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:158609464G>T	ENST00000368147.4	-	35	5068	c.4888C>A	c.(4888-4890)Ctg>Atg	p.L1630M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1630					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATGGCCAGCAATGTCTCT	0.463																																					p.L1630M													.	.			0			c.C4888A												130.0	119.0	123.0					1																	158609464		1889	4124	6013	SO:0001583	missense	6708	exon35			TGGCCAGCAATGT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4888C>A	1.37:g.158609464G>T	ENSP00000357129:p.Leu1630Met		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	113	0.04	5	NM_003126	1	0.00	0	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754634	0.69648	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.61742	0.08;0.08	5.35	4.42	0.53409	.	0.000000	0.26669	N	0.023101	T	0.61974	0.2390	M	0.64080	1.96	0.45502	D	0.998461	D	0.89917	1.0	D	0.97110	1.0	T	0.63033	-0.6727	10	0.38643	T	0.18	.	10.6842	0.45833	0.1568:0.0:0.8432:0.0	.	1630	P02549	SPTA1_HUMAN	M	1630	ENSP00000357130:L1630M;ENSP00000357129:L1630M	ENSP00000357129:L1630M	L	-	1	2	SPTA1	156876088	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	4.065000	0.57513	1.596000	0.50062	0.655000	0.94253	CTG			0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051851.3		NM_003126	
MIR4426	100616345	bcgsc.ca	37	1	192685532	192685532	+	IGR	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:192685532C>T								RGS13 (56142 upstream) : RGS2 (92636 downstream)																							GTTGAGACTTCGTGGTGGTGC	0.418																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	100616345	.			AGACTTCGTGGTG																													1.37:g.192685532C>T			Somatic	16	0	0		WXS	Illumina HiSeq	Phase_1	13	0.69	9	.	1229	0.00	1		RNA	SNP		37																																																																																					0	0.418										
FMN2	56776	broad.mit.edu	37	1	240371517	240371517	+	Silent	SNP	T	T	A	rs369474345		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:240371517T>A	ENST00000319653.9	+	5	3635	c.3405T>A	c.(3403-3405)ctT>ctA	p.L1135L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1135	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCCCTCTTCCCGGAGCGG	0.706																																					p.L1135L													FMN2,NS,carcinoma,+2,1	FMN2	451	1	0			c.T3405A							T		30,4102		0,30,2036	6.0	8.0	7.0		3405	-6.6	0.0	1		7	19,8117		0,19,4049	no	coding-synonymous	FMN2	NM_020066.4		0,49,6085	AA,AT,TT		0.2335,0.726,0.3994		1135/1723	240371517	49,12219	2066	4068	6134	SO:0001819	synonymous_variant	56776	exon5			CCCTCTTCCCGGA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3405T>A	1.37:g.240371517T>A			Somatic	63	0.0476190476	3		WXS	Illumina HiSeq	Phase_I	73	0.08	6	NM_020066	0		0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352	
ADSS	159	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	244601040	244601040	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr1:244601040C>T	ENST00000366535.3	-	2	530	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			ACAGAATCCACAACAACTGTA	0.363																																					p.V72M													.	.			0			c.G214A												145.0	157.0	153.0					1																	244601040		2203	4300	6503	SO:0001583	missense	159	exon2			AATCCACAACAAC	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.214G>A	1.37:g.244601040C>T	ENSP00000355493:p.Val72Met		Somatic	116	0	0		WXS	Illumina HiSeq	.	86	0.37	32	NM_001126	72	0.24	17		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973285	0.92919	.	.	ENSG00000035687	ENST00000366535;ENST00000449326;ENST00000430700	T	0.47869	0.83	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.82372	-0.0490	10	0.87932	D	0	-15.668	18.6426	0.91400	0.0:1.0:0.0:0.0	.	72	P30520	PURA2_HUMAN	M	72;51;12	ENSP00000355493:V72M	ENSP00000355493:V72M	V	-	1	0	ADSS	242667663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.189000	0.77747	2.689000	0.91719	0.591000	0.81541	GTG			0.363	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096697.1		NM_001126	
DLG5	9231	mdanderson.org	37	10	79577631	79577631	+	Missense_Mutation	SNP	G	G	T	rs147253082		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr10:79577631G>T	ENST00000372391.2	-	18	3693	c.3688C>A	c.(3688-3690)Cgc>Agc	p.R1230S	DLG5_ENST00000372388.2_Missense_Mutation_p.R890S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1230					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCTCAGGCGTCCCTGGTGC	0.602																																					p.R1230S													.	.			0			c.C3688A												53.0	39.0	44.0					10																	79577631		2145	4198	6343	SO:0001583	missense	9231	exon18			TCAGGCGTCCCTG	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3688C>A	10.37:g.79577631G>T	ENSP00000361467:p.Arg1230Ser		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_004747	74	0.00	0	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	32	5.180096	0.94846	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.06528	3.31;3.29;3.52	5.8	5.8	0.92144	.	0.000000	0.39407	N	0.001365	T	0.14442	0.0349	L	0.43923	1.385	0.51482	D	0.999924	D;D;D	0.59357	0.985;0.974;0.965	P;P;P	0.54759	0.76;0.581;0.663	T	0.05954	-1.0854	10	0.21014	T	0.42	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	1120;1230;890	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	S	1230;191;890	ENSP00000361467:R1230S;ENSP00000394797:R191S;ENSP00000361464:R890S	ENSP00000361464:R890S	R	-	1	0	DLG5	79247637	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	9.230000	0.95299	2.735000	0.93741	0.655000	0.94253	CGC			0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048900.2			
MYOF	26509	mdanderson.org	37	10	95123740	95123740	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr10:95123740G>T	ENST00000359263.4	-	27	2845	c.2846C>A	c.(2845-2847)gCc>gAc	p.A949D	MYOF_ENST00000371501.4_Missense_Mutation_p.A949D|MYOF_ENST00000371502.4_Missense_Mutation_p.A949D|MYOF_ENST00000358334.5_Missense_Mutation_p.A936D	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	949					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTGTCCTCGGCCGGCTTCCA	0.617																																					p.A949D													.	.			0			c.C2846A												54.0	55.0	55.0					10																	95123740		1932	4135	6067	SO:0001583	missense	26509	exon27			TCCTCGGCCGGCT	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2846C>A	10.37:g.95123740G>T	ENSP00000352208:p.Ala949Asp		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_013451	100	0.00	0	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795220	0.50208	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83992	-1.79;-1.78;-1.79;-1.79	5.65	4.73	0.59995	Ferlin/Peroxisome membrane (1);	0.104312	0.64402	D	0.000004	D	0.83894	0.5353	L	0.53249	1.67	0.58432	D	0.999996	B;B	0.32425	0.189;0.371	B;B	0.43052	0.406;0.323	T	0.82617	-0.0369	10	0.46703	T	0.11	-20.2857	15.0589	0.71936	0.0686:0.0:0.9314:0.0	.	936;949	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	D	936;949;949;949	ENSP00000351094:A936D;ENSP00000352208:A949D;ENSP00000360556:A949D;ENSP00000360557:A949D	ENSP00000351094:A936D	A	-	2	0	MYOF	95113730	0.992000	0.36948	0.277000	0.24703	0.330000	0.28571	4.792000	0.62467	2.941000	0.99782	0.655000	0.94253	GCC			0.617	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000049423.2		NM_013451	
MMS19	64210	broad.mit.edu	37	10	99221310	99221310	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr10:99221310A>G	ENST00000438925.2	-	23	2589	c.2254T>C	c.(2254-2256)Ttt>Ctt	p.F752L	MMS19_ENST00000327238.10_Missense_Mutation_p.F654L|MMS19_ENST00000370782.2_Missense_Mutation_p.F752L|MMS19_ENST00000327277.7_Intron|MMS19_ENST00000355839.6_Missense_Mutation_p.F709L	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	752					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GTGGAAGAAAAGGGGCAGCTG	0.527								Direct reversal of damage																													p.F752L													.	MMS19	36		0			c.T2254C												39.0	38.0	39.0					10																	99221310		2203	4299	6502	SO:0001583	missense	64210	exon23			AAGAAAAGGGGCA	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2254T>C	10.37:g.99221310A>G	ENSP00000412698:p.Phe752Leu		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	141	0.02	3	NM_022362	90	0.00	0	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834593	0.32421	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839	T;T;T;T	0.65916	-0.08;-0.08;-0.18;-0.08	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.229422	0.45361	D	0.000369	T	0.52837	0.1759	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.13407	0.001;0.009;0.005;0.0;0.001	T	0.49943	-0.8885	10	0.10902	T	0.67	.	16.397	0.83610	1.0:0.0:0.0:0.0	.	773;654;709;752;709	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.;.;.;MMS19_HUMAN;.	L	752;752;654;731;709	ENSP00000412698:F752L;ENSP00000359818:F752L;ENSP00000320059:F654L;ENSP00000348097:F709L	ENSP00000320059:F654L	F	-	1	0	MMS19	99211300	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	5.647000	0.67923	2.275000	0.75901	0.459000	0.35465	TTT			0.527	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049706.2			
MUC2	4583	mdanderson.org	37	11	1092961	1092961	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:1092961C>T	ENST00000441003.2	+	30	4807	c.4780C>T	c.(4780-4782)Cca>Tca	p.P1594S	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tacggtgaccccaaccccaac	0.637																																					p.P1594S													.	.			0			c.C4780T												50.0	84.0	72.0					11																	1092961		1794	3237	5031	SO:0001583	missense	4583	exon30			GTGACCCCAACCC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4780C>T	11.37:g.1092961C>T	ENSP00000415183:p.Pro1594Ser		Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	29	0.07	2	NM_002457	11	0.00	0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120819	0.06838	.	.	ENSG00000198788	ENST00000441003	T	0.14516	2.5	1.28	-2.14	0.07123	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44128	-0.9348	8	0.10902	T	0.67	.	2.2099	0.03945	0.4096:0.3632:0.0:0.2272	.	1594	E7EUV1	.	S	1594	ENSP00000415183:P1594S	ENSP00000415183:P1594S	P	+	1	0	MUC2	1082961	0.000000	0.05858	0.018000	0.16275	0.191000	0.23601	-1.747000	0.01827	-0.108000	0.12066	0.064000	0.15345	CCA			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
MYBPC3	4607	mdanderson.org	37	11	47365120	47365120	+	Silent	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:47365120C>T	ENST00000545968.1	-	13	1200	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	MYBPC3_ENST00000399249.2_Silent_p.R382R|MYBPC3_ENST00000256993.4_Silent_p.R382R	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	382	Ig-like C2-type 2.		R -> W (in dbSNP:rs11570076). {ECO:0000269|PubMed:15519027, ECO:0000269|Ref.4}.		cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CCACGGTCAGCCGGATCTTGT	0.647																																					p.R382R													.	.			0			c.G1146A												54.0	54.0	54.0					11																	47365120		2004	4175	6179	SO:0001819	synonymous_variant	4607	exon13			GGTCAGCCGGATC	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1146G>A	11.37:g.47365120C>T			Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_000256	0		0	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	CCDS53621.1																																																																																					0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000392271.3			
TRIM51HP	440041	hgsc.bcm.edu	37	11	55063245	55063245	+	RNA	SNP	A	A	C			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:55063245A>C	ENST00000526016.1	-	0	471					NR_038174.2				tripartite motif-containing 51H, pseudogene																		AGCATTCTGAAAACCCAATAT	0.303																																					.													.	.			0			.																																											440041	.			TTCTGAAAACCCA			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55063245A>C			Somatic	40	0	0		WXS	Illumina HiSeq	.	26	0.42	11	.	0		0		RNA	SNP	ENST00000526016.1	37																																																																																						0.303	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene		OTTHUMT00000391438.1			
MRPL16	54948	mdanderson.org	37	11	59577352	59577352	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:59577352G>T	ENST00000300151.4	-	2	310	c.97C>A	c.(97-99)Ctg>Atg	p.L33M		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	33					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						ACTGGGAGCAGTGTCTTTACG	0.502																																					p.L33M													MRPL16,NS,carcinoma,0,1	MRPL16	0	1	0			c.C97A												59.0	56.0	57.0					11																	59577352		2201	4295	6496	SO:0001583	missense	54948	exon2			GGAGCAGTGTCTT	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.97C>A	11.37:g.59577352G>T	ENSP00000300151:p.Leu33Met		Somatic	67	0.0149253731	1		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_017840	109	0.00	0	Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139894	0.56936	.	.	ENSG00000166902	ENST00000300151	T	0.25912	1.77	5.91	4.9	0.64082	.	0.293153	0.37906	N	0.001893	T	0.21307	0.0513	L	0.36672	1.1	0.29045	N	0.884869	P	0.46706	0.883	B	0.43990	0.438	T	0.13845	-1.0494	10	0.59425	D	0.04	-17.1396	6.8929	0.24241	0.1399:0.0:0.8601:0.0	.	33	Q9NX20	RM16_HUMAN	M	33	ENSP00000300151:L33M	ENSP00000300151:L33M	L	-	1	2	MRPL16	59333928	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	2.872000	0.48467	2.793000	0.96121	0.655000	0.94253	CTG			0.502	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394521.1		NM_017840	
CAPN5	726	mdanderson.org	37	11	76831772	76831772	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:76831772G>T	ENST00000278559.3	+	10	1493	c.1304G>T	c.(1303-1305)cGc>cTc	p.R435L	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R435L|CAPN5_ENST00000456580.2_Missense_Mutation_p.R475L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	435	Domain III.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GAGGAGAACCGCCAGTACCGC	0.672																																					p.R435L													.	.			0			c.G1304T												93.0	79.0	84.0					11																	76831772		2200	4292	6492	SO:0001583	missense	726	exon10			AGAACCGCCAGTA		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1304G>T	11.37:g.76831772G>T	ENSP00000278559:p.Arg435Leu		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_004055	20	0.00	0	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123433	0.94429	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.88201	-2.35;-2.35;-2.35	5.04	5.04	0.67666	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.127919	0.52532	D	0.000078	D	0.93729	0.7996	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.99;1.0	D;D;D;D	0.91635	0.998;0.979;0.948;0.999	D	0.94253	0.7495	10	0.66056	D	0.02	.	17.3654	0.87362	0.0:0.0:1.0:0.0	.	473;475;475;435	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	L	435;475;435;475;475	ENSP00000278559:R435L;ENSP00000432332:R435L;ENSP00000409996:R475L	ENSP00000278559:R435L	R	+	2	0	CAPN5	76509420	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.476000	0.97823	2.351000	0.79841	0.563000	0.77884	CGC			0.672	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382564.2		NM_004055	
CADM1	23705	hgsc.bcm.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																					p.T343T													CADM1,NS,carcinoma,0,6	CADM1	0	6	5	Substitution - coding silent(5)	kidney(3)|lung(2)	c.C1029A												45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705	exon8			GGTGGTGGTTGTT	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T			Somatic	42	0	0		WXS	Illumina HiSeq	.	53	0.09	5	NM_014333	30	0.03	1		Silent	SNP	ENST00000452722.3	37	CCDS8373.1																																																																																					0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000398753.2		NM_014333	
NFRKB	4798	mdanderson.org	37	11	129740083	129740083	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr11:129740083C>T	ENST00000446488.3	-	23	2940	c.2837G>A	c.(2836-2838)cGc>cAc	p.R946H	NFRKB_ENST00000304521.5_Missense_Mutation_p.R946H|NFRKB_ENST00000524794.1_Missense_Mutation_p.R971H|NFRKB_ENST00000524746.1_Missense_Mutation_p.R946H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	946					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACCCTGGATGCGGAAGTTAGT	0.557																																					p.R971H													.	.			0			c.G2912A												177.0	145.0	156.0					11																	129740083		2201	4297	6498	SO:0001583	missense	4798	exon22			TGGATGCGGAAGT		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.2837G>A	11.37:g.129740083C>T	ENSP00000400476:p.Arg946His		Somatic	145	0	0		WXS	Illumina HiSeq	Phase_I	77	0.05	4	NM_006165	14	0.00	0	Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974650	0.74360	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	L	0.32530	0.975	0.80722	D	1	D;P;D;D	0.89917	0.994;0.877;1.0;1.0	P;B;D;D	0.85130	0.733;0.23;0.997;0.997	T	0.72261	-0.4345	9	0.72032	D	0.01	-12.1151	18.3589	0.90368	0.0:1.0:0.0:0.0	.	956;946;945;971	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	H	946;946;971;946;956	.	ENSP00000303800:R946H	R	-	2	0	NFRKB	129245293	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.694000	0.61760	2.327000	0.79052	0.655000	0.94253	CGC			0.557	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386063.2		NM_006165	
WNT5B	81029	mdanderson.org	37	12	1755104	1755104	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:1755104C>T	ENST00000397196.2	+	5	998	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	WNT5B_ENST00000310594.3_Missense_Mutation_p.R256C|WNT5B_ENST00000537031.1_Missense_Mutation_p.R256C|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	256					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCGCCATGCGCGTCACCCG	0.687																																					p.R256C													WNT5B_ENST00000397196,NS,carcinoma,-2,1	WNT5B_ENST00000397196	-2	1	0			c.C766T												26.0	28.0	27.0					12																	1755104		2201	4298	6499	SO:0001583	missense	81029	exon5			GCCATGCGCGTCA	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.766C>T	12.37:g.1755104C>T	ENSP00000380379:p.Arg256Cys		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	55	0.05	3	NM_030775	59	0.00	0	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274670	0.59649	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.76578	-1.03;-1.03;-1.03	5.14	5.14	0.70334	.	0.050844	0.85682	D	0.000000	D	0.89033	0.6600	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.90463	0.4447	10	0.66056	D	0.02	.	14.4508	0.67385	0.2107:0.7893:0.0:0.0	.	256	Q9H1J7	WNT5B_HUMAN	C	256	ENSP00000439312:R256C;ENSP00000308887:R256C;ENSP00000380379:R256C	ENSP00000308887:R256C	R	+	1	0	WNT5B	1625365	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	2.300000	0.43620	2.668000	0.90789	0.650000	0.86243	CGC			0.687	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206747.2			
KIAA1551	55196	hgsc.bcm.edu;broad.mit.edu	37	12	32137715	32137715	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:32137715G>T	ENST00000312561.4	+	4	4240	c.3826G>T	c.(3826-3828)Gct>Tct	p.A1276S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1276																	AGAATTAGTTGCTGGTCAGTT	0.343																																					p.A1276S													C12orf35,colon,carcinoma,0,1	C12orf35	0	1	0			c.G3826T												44.0	42.0	43.0					12																	32137715		2203	4300	6503	SO:0001583	missense	55196	exon4			TTAGTTGCTGGTC	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3826G>T	12.37:g.32137715G>T	ENSP00000310338:p.Ala1276Ser		Somatic	67	0.0149253731	1		WXS	Illumina HiSeq	.	144	0.04	6	NM_018169	92	0.00	0	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.441504	0.00180	.	.	ENSG00000174718	ENST00000312561	T	0.10099	2.91	0.235	0.235	0.15431	.	.	.	.	.	T	0.05135	0.0137	N	0.12182	0.205	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.45011	-0.9290	7	.	.	.	.	.	.	.	.	1276	Q9HCM1	CL035_HUMAN	S	1276	ENSP00000310338:A1276S	.	A	+	1	0	C12orf35	32028982	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	GCT			0.343	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250307.2		NM_018169	
RAB21	23011	mdanderson.org	37	12	72148936	72148936	+	Silent	SNP	C	C	G			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:72148936C>G	ENST00000261263.3	+	1	283	c.27C>G	c.(25-27)ggC>ggG	p.G9G		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	9					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						gcggcggcggcggggcggcgg	0.761																																					p.G9G													.	.			0			c.C27G												4.0	3.0	3.0					12																	72148936		1494	3057	4551	SO:0001819	synonymous_variant	23011	exon1			CGGCGGCGGGGCG	AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"""RAB, member RAS oncogene"""	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.27C>G	12.37:g.72148936C>G			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	16	0.13	2	NM_014999	2	0.00	0	Q14466|Q569H3	Silent	SNP	ENST00000261263.3	37	CCDS9003.1																																																																																					0.761	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404855.1			
MLXIP	22877	mdanderson.org	37	12	122612481	122612481	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr12:122612481G>A	ENST00000319080.7	+	3	704	c.572G>A	c.(571-573)gGc>gAc	p.G191D						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCCTGGACGGCTCTGTGGAC	0.597																																					p.G191D	Esophageal Squamous(105;787 1493 16200 18566 52466)												MLXIP,NS,carcinoma,+1,1	MLXIP	1	1	0			c.G572A												117.0	123.0	121.0					12																	122612481		2011	4195	6206	SO:0001583	missense	22877	exon3			TGGACGGCTCTGT	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.572G>A	12.37:g.122612481G>A	ENSP00000312834:p.Gly191Asp		Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_014938	80	0.00	0		Missense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	G	23.1	4.378433	0.82682	.	.	ENSG00000175727	ENST00000319080	T	0.15952	2.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.31166	-0.9953	9	0.72032	D	0.01	-33.6278	14.996	0.71431	0.0:0.1421:0.8579:0.0	.	191	Q9HAP2	MLXIP_HUMAN	D	191	ENSP00000312834:G191D	ENSP00000312834:G191D	G	+	2	0	MLXIP	121178435	1.000000	0.71417	0.998000	0.56505	0.607000	0.37147	7.514000	0.81750	2.590000	0.87494	0.655000	0.94253	GGC			0.597	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000401718.2		NM_014938	
PABPC3	5042	bcgsc.ca	37	13	25671311	25671315	+	Frame_Shift_Del	DEL	TATGA	TATGA	-	rs371130768|rs373128241		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	TATGA	TATGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr13:25671311_25671315delTATGA	ENST00000281589.3	+	1	1012_1016	c.975_979delTATGA	c.(973-981)gttatgatgfs	p.MM326fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	326	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGCAAAGGTTATGATGGAAGGTGG	0.415																																					p.325_327del													.	PABPC3	129		0			c.975_979del																																									SO:0001589	frameshift_variant	5042	exon1			AAAGGTTATGATG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.975_979delTATGA	13.37:g.25671311_25671315delTATGA	ENSP00000281589:p.Met326fs		Somatic	237	0.0042194093	1		WXS	Illumina HiSeq	Phase_1	198	0.03	5	NM_030979	17	0.00	0	Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	CCDS9311.1																																																																																					0.415	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044220.2		NM_030979	
ATP11A	23250	ucsc.edu;bcgsc.ca	37	13	113508740	113508740	+	Silent	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr13:113508740G>T	ENST00000487903.1	+	19	2227	c.2139G>T	c.(2137-2139)ctG>ctT	p.L713L	ATP11A_ENST00000283558.8_Silent_p.L713L|ATP11A_ENST00000375630.2_Silent_p.L713L|ATP11A_ENST00000375645.3_Silent_p.L713L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	713					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCTGGAGCTGACCACCAAGA	0.622																																					p.L713L													.	ATP11A	225		0			c.G2139T												66.0	60.0	62.0					13																	113508740		2203	4300	6503	SO:0001819	synonymous_variant	23250	exon19			GGAGCTGACCACC	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2139G>T	13.37:g.113508740G>T			Somatic	54	0	0		WXS	Illumina HiSeq		34	0.12	4	NM_032189	29	0.00	0	Q5VXT2	Silent	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275482	0.23307	.	.	ENSG00000068650	ENST00000418678	.	.	.	4.84	-1.24	0.09435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4584	0.27280	0.3026:0.4762:0.2212:0.0	.	.	.	.	L	688	.	.	X	+	2	2	ATP11A	112556741	0.588000	0.26799	0.447000	0.26932	0.983000	0.72400	-0.314000	0.08092	-0.523000	0.06409	-0.264000	0.10439	TGA			0.622	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000045834.3		NM_015205	
ACIN1	22985	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	23530737	23530737	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr14:23530737G>T	ENST00000262710.1	-	17	3695	c.3368C>A	c.(3367-3369)cCc>cAc	p.P1123H	ACIN1_ENST00000555053.1_Missense_Mutation_p.P1110H|ACIN1_ENST00000397341.3_Missense_Mutation_p.P365H|ACIN1_ENST00000605057.1_Missense_Mutation_p.P1065H|ACIN1_ENST00000357481.2_Missense_Mutation_p.P365H|ACIN1_ENST00000557515.1_Missense_Mutation_p.P364H|ACIN1_ENST00000338631.6_Missense_Mutation_p.P396H|ACIN1_ENST00000457657.1_Missense_Mutation_p.P1083H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1123	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGGACCGGGGGTGGGGGTGG	0.667																																					p.P1123H													.	.			0			c.C3368A												11.0	14.0	13.0					14																	23530737		2091	4025	6116	SO:0001583	missense	22985	exon17			ACCGGGGGTGGGG	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3368C>A	14.37:g.23530737G>T	ENSP00000262710:p.Pro1123His		Somatic	71	0	0		WXS	Illumina HiSeq	.	79	0.14	11	NM_014977	128	0.38	49	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832869	0.71258	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T	0.16897	2.31;2.32;2.31	5.19	5.19	0.71726	.	0.000000	0.39210	N	0.001435	T	0.17789	0.0427	N	0.01352	-0.895	0.54753	D	0.999989	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.76575	0.988;0.972;0.972;0.923;0.923	T	0.56475	-0.7973	10	0.59425	D	0.04	-8.6985	17.6555	0.88176	0.0:0.0:1.0:0.0	.	1110;1123;1083;396;365	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	H	364;396;365;1123;1083;365;1110	ENSP00000262710:P1123H;ENSP00000405677:P1083H;ENSP00000451328:P1110H	ENSP00000262710:P1123H	P	-	2	0	ACIN1	22600577	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.042000	0.41222	2.684000	0.91462	0.563000	0.77884	CCC			0.667	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3		NM_014977	
TP53BP1	7158	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	43712824	43712833	+	Frame_Shift_Del	DEL	GTCTGGTGGA	GTCTGGTGGA	-			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	GTCTGGTGGA	GTCTGGTGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr15:43712824_43712833delGTCTGGTGGA	ENST00000263801.3	-	21	4588_4597	c.4336_4345delTCCACCAGAC	c.(4336-4347)tccaccagacgafs	p.STRR1446fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.STRR1451fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.STRR1401fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.STRR1451fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1446					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACATCTGTTCGTCTGGTGGAGTCTGGCACT	0.548								Other conserved DNA damage response genes																													p.1451_1454del													.	TP53BP1	157		0			c.4352_4361del																																									SO:0001589	frameshift_variant	7158	exon21			CTGTTCGTCTGGT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4336_4345delTCCACCAGAC	15.37:g.43712824_43712833delGTCTGGTGGA	ENSP00000263801:p.Ser1446fs		Somatic	55	0	0		WXS	Illumina HiSeq	.	54	0.20	11	NM_001141980	66	0.00	0	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	CCDS10096.1																																																																																					0.548	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000132897.3			
CILP	8483	mdanderson.org	37	15	65499312	65499312	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr15:65499312G>T	ENST00000261883.4	-	4	398	c.232C>A	c.(232-234)Cgc>Agc	p.R78S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	78					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TAGTAGAAGCGAATGGCGTCC	0.612																																					p.R78S													CILP,NS,carcinoma,+2,1	CILP	2	1	0			c.C232A												51.0	42.0	45.0					15																	65499312		2201	4299	6500	SO:0001583	missense	8483	exon4			AGAAGCGAATGGC	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.232C>A	15.37:g.65499312G>T	ENSP00000261883:p.Arg78Ser		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	72	0.06	4	NM_003613	2	0.00	0	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113538	0.77210	.	.	ENSG00000138615	ENST00000261883	T	0.18502	2.21	5.58	5.58	0.84498	.	0.207477	0.49916	D	0.000127	T	0.35970	0.0950	M	0.92970	3.365	0.52099	D	0.999949	B	0.32620	0.378	B	0.39339	0.297	T	0.38134	-0.9675	10	0.87932	D	0	-7.3295	12.0712	0.53618	0.0:0.0:0.8281:0.1719	.	78	O75339	CILP1_HUMAN	S	78	ENSP00000261883:R78S	ENSP00000261883:R78S	R	-	1	0	CILP	63286365	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	4.418000	0.59828	2.619000	0.88677	0.561000	0.74099	CGC			0.612	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256829.1		NM_003613	
VASN	114990	broad.mit.edu	37	16	4432543	4432543	+	Silent	SNP	A	A	C			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:4432543A>C	ENST00000304735.3	+	2	1820	c.1665A>C	c.(1663-1665)acA>acC	p.T555T	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	555	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						AGGCCCATACACCCCCAGCCG	0.731																																					p.T555T													.	VASN	21		0			c.A1665C												11.0	17.0	15.0					16																	4432543		2155	4252	6407	SO:0001819	synonymous_variant	114990	exon2			CCATACACCCCCA	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1665A>C	16.37:g.4432543A>C			Somatic	44	0.1590909091	7		WXS	Illumina HiSeq	Phase_I	61	0.18	11	NM_138440	84	0.01	1	Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	CCDS10514.1																																																																																					0.731	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251632.1		NM_138440	
ANKS3	124401	mdanderson.org	37	16	4751543	4751543	+	Splice_Site	SNP	C	C	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:4751543C>A	ENST00000304283.4	-	10	1305	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	ANKS3_ENST00000585773.1_Splice_Site_p.E264D|ANKS3_ENST00000450067.2_Splice_Site_p.E131D|ANKS3_ENST00000446014.2_Splice_Site_p.E208D	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	337	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						AAGCATGTTCCTCTGAGGGCG	0.692																																					p.E337D													.	.			0			c.G1011T												29.0	29.0	29.0					16																	4751543		2197	4300	6497	SO:0001630	splice_region_variant	124401	exon10			ATGTTCCTCTGAG	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1010-1G>T	16.37:g.4751543C>A			Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	31	0.10	3	NM_133450	37	0.00	0	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369163	0.24771	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.45668	1.49;3.22;0.89	5.26	-3.96	0.04106	.	0.319867	0.33161	N	0.005206	T	0.44561	0.1299	L	0.43757	1.38	0.31871	N	0.619672	D;B	0.63880	0.993;0.012	P;B	0.60789	0.879;0.006	T	0.54616	-0.8267	10	0.10902	T	0.67	.	16.3758	0.83387	0.0:0.8388:0.0:0.1612	.	131;337	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	D	337;208;131	ENSP00000304586:E337D;ENSP00000406796:E208D;ENSP00000388270:E131D	ENSP00000304586:E337D	E	-	3	2	ANKS3	4691544	0.068000	0.21057	0.390000	0.26220	0.029000	0.11900	-0.931000	0.03967	-0.671000	0.05274	-0.379000	0.06801	GAG			0.692	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251642.3		NM_133450	Missense_Mutation
ACSM5P1	100421779	bcgsc.ca	37	16	20605255	20605255	+	IGR	SNP	C	C	T	rs201994972		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:20605255C>T								RP11-143N13.2 (7249 upstream) : ACSM1 (29303 downstream)																							CAGACAGTGCCTCAGGCTCTG	0.582																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CAGTGCCTCAGGC																													16.37:g.20605255C>T			Somatic	68	0.0294117647	2		WXS	Illumina HiSeq	Phase_1	55	0.20	11	.	0		0		RNA	SNP		37																																																																																					0	0.582										
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																					.													.	.			6	Substitution - Missense(6)	endometrium(5)|kidney(1)	.																																											0	.			AGTATCTTCAGAG			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C			Somatic	407	0.0024570025	1		WXS	Illumina HiSeq	Phase_I	492	0.01	6	.	6	0.00	0		RNA	SNP	ENST00000564580.1	37		.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT			0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000433243.1		NR_003369	
INO80E	283899	bcgsc.ca	37	16	30016646	30016652	+	Frame_Shift_Del	DEL	TAAGATG	TAAGATG	-			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	TAAGATG	TAAGATG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:30016646_30016652delTAAGATG	ENST00000563197.1	+	7	1635_1641	c.618_624delTAAGATG	c.(616-624)cctaagatgfs	p.PKM206fs	INO80E_ENST00000304516.7_Frame_Shift_Del_p.PKM167fs|INO80E_ENST00000567705.1_Frame_Shift_Del_p.PKM189fs	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	206	Pro-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCCCACCCCCTAAGATGCCCCCCCCCA	0.681																																					p.206_208del													.	INO80E	26		0			c.618_624del																																									SO:0001589	frameshift_variant	283899	exon7			ACCCCCTAAGATG	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.618_624delTAAGATG	16.37:g.30016646_30016652delTAAGATG	ENSP00000457016:p.Pro206fs		Somatic	180	0	0		WXS	Illumina HiSeq	Phase_1	167	0.00	0	NM_173618	42	0.00	0	Q6Y2K3	Frame_Shift_Del	DEL	ENST00000563197.1	37	CCDS10665.1																																																																																					0.681	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255156.2		NM_173618	
IRX6	79190	mdanderson.org	37	16	55362814	55362814	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:55362814G>T	ENST00000290552.7	+	5	2256	c.924G>T	c.(922-924)gaG>gaT	p.E308D	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	308					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGCGCAGGGAGTGCGGCCTGG	0.662																																					p.E308D													.	.			0			c.G924T												46.0	50.0	48.0					16																	55362814		2196	4295	6491	SO:0001583	missense	79190	exon5			CAGGGAGTGCGGC	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.924G>T	16.37:g.55362814G>T	ENSP00000290552:p.Glu308Asp		Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_024335	2	0.00	0	B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306916	0.40795	.	.	ENSG00000159387	ENST00000290552	D	0.89875	-2.58	5.27	-0.618	0.11576	.	0.346719	0.24818	N	0.035354	T	0.77039	0.4072	L	0.27053	0.805	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.63475	-0.6629	10	0.39692	T	0.17	-6.4683	5.261	0.15573	0.2836:0.3922:0.3242:0.0	.	308	P78412	IRX6_HUMAN	D	308	ENSP00000290552:E308D	ENSP00000290552:E308D	E	+	3	2	IRX6	53920315	0.001000	0.12720	0.996000	0.52242	0.888000	0.51559	-0.113000	0.10774	0.218000	0.20820	0.462000	0.41574	GAG			0.662	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000417445.4		NM_024335	
CNGB1	1258	mdanderson.org	37	16	57993941	57993941	+	Silent	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr16:57993941C>T	ENST00000251102.8	-	10	672	c.612G>A	c.(610-612)ggG>ggA	p.G204G	CNGB1_ENST00000311183.4_Silent_p.G204G|CNGB1_ENST00000564448.1_Silent_p.G198G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	204	Pro-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAGCTTGGGCCCCATTTCCT	0.687																																					p.G204G	Colon(156;1293 1853 16336 28962 38659)												.	.			0			c.G612A												8.0	10.0	10.0					16																	57993941		1891	4073	5964	SO:0001819	synonymous_variant	1258	exon10			CTTGGGCCCCATT	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.612G>A	16.37:g.57993941C>T			Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_001135639	0		0	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	CCDS42169.1																																																																																					0.687	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337167.2		NM_001297	
CDRT15	146822	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	14139304	14139304	+	Silent	SNP	T	T	G			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr17:14139304T>G	ENST00000420162.2	-	3	451	c.436A>C	c.(436-438)Agg>Cgg	p.R146R	CDRT15_ENST00000431716.2_Silent_p.R80R	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	146										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CTTCCCAGCCTTCTTTTAATG	0.557																																					p.R146R													.	.			0			c.A436C												45.0	43.0	44.0					17																	14139304		2203	4300	6503	SO:0001819	synonymous_variant	146822	exon3			CCAGCCTTCTTTT	AF355097	CCDS32569.1	17p12	2012-11-19			ENSG00000223510	ENSG00000223510			14395	protein-coding gene	gene with protein product						11381029	Standard	NM_001007530		Approved		uc010vvu.2	Q96T59	OTTHUMG00000179686	ENST00000420162.2:c.436A>C	17.37:g.14139304T>G			Somatic	322	0	0		WXS	Illumina HiSeq	.	398	0.16	64	NM_001007530	1	0.00	0	B2RUU5	Silent	SNP	ENST00000420162.2	37	CCDS32569.1																																																																																					0.557	CDRT15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252853.1		NM_001007530	
KCNJ12	3768	mdanderson.org	37	17	21318669	21318669	+	Silent	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr17:21318669C>T	ENST00000583088.1	+	3	910	c.15C>T	c.(13-15)agC>agT	p.S5S	KCNJ12_ENST00000331718.5_Silent_p.S5S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	5					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCGCGGCCAGCCGGGCCAACC	0.692										Prostate(3;0.18)																											p.S5S													.	.			0			c.C15T												36.0	36.0	36.0					17																	21318669		2202	4299	6501	SO:0001819	synonymous_variant	100134444	exon3			GGCCAGCCGGGCC	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.15C>T	17.37:g.21318669C>T			Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001194958	3	0.00	0	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																					0.692	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255060.2		NM_021012	
KRTAP9-1	728318	mdanderson.org	37	17	39346876	39346876	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr17:39346876G>T	ENST00000398470.1	+	1	738	c.738G>T	c.(736-738)caG>caT	p.Q246H	KRTAP9-1_ENST00000318329.5_Missense_Mutation_p.Q112H	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	246	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						GCTGCTGCCAGCCTTCCTGCT	0.552																																					p.Q246H													.	.			0			c.G738T																																									SO:0001583	missense	728318	exon1			CTGCCAGCCTTCC	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.738G>T	17.37:g.39346876G>T	ENSP00000381488:p.Gln246His		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	56	0.05	3	NM_001190460	0		0		Missense_Mutation	SNP	ENST00000398470.1	37	CCDS56029.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905122	0.52333	.	.	ENSG00000240542	ENST00000398470;ENST00000318329	T;T	0.01455	6.14;4.87	4.67	0.922	0.19408	.	.	.	.	.	T	0.02727	0.0082	L	0.49126	1.545	0.09310	N	1	.	.	.	.	.	.	T	0.42949	-0.9421	7	0.54805	T	0.06	.	4.2557	0.10715	0.1072:0.1468:0.5961:0.1499	.	.	.	.	H	246;112	ENSP00000381488:Q246H;ENSP00000325023:Q112H	ENSP00000325023:Q112H	Q	+	3	2	KRTAP9-1	36600402	0.058000	0.20735	0.393000	0.26258	0.991000	0.79684	-0.483000	0.06536	0.379000	0.24794	0.543000	0.68304	CAG			0.552	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257781.1			
PGDP1	342705	bcgsc.ca	37	18	29543378	29543378	+	IGR	SNP	G	G	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr18:29543378G>A								RP11-326K13.4 (19259 upstream) : RNF125 (54956 downstream)																							TGGGGTCCAGGCTGGCATTCC	0.537																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	342705	.			GTCCAGGCTGGCA																													18.37:g.29543378G>A			Somatic	66	0	0		WXS	Illumina HiSeq	Phase_1	28	0.14	4	.	2	0.00	0		RNA	SNP		37																																																																																					0	0.537										
FBN3	84467	broad.mit.edu	37	19	8183824	8183824	+	Silent	SNP	A	A	G			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:8183824A>G	ENST00000600128.1	-	26	3708	c.3294T>C	c.(3292-3294)tgT>tgC	p.C1098C	FBN3_ENST00000601739.1_Silent_p.C1098C|FBN3_ENST00000270509.2_Silent_p.C1098C			Q75N90	FBN3_HUMAN	fibrillin 3	1098	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1098C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGGGGGACACTGGCACT	0.587																																					p.C1098C													FBN3,rectum,carcinoma,0,1	FBN3	300	1	1	Substitution - coding silent(1)	large_intestine(1)	c.T3294C												160.0	117.0	131.0					19																	8183824		2203	4300	6503	SO:0001819	synonymous_variant	84467	exon25			AGGGGGACACTGG		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3294T>C	19.37:g.8183824A>G			Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	125	0.03	4	NM_032447	62	0.00	0	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																					0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461428.2		NM_032447	
MAG	4099	broad.mit.edu	37	19	35791134	35791134	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:35791134A>C	ENST00000392213.3	+	6	956	c.797A>C	c.(796-798)aAc>aCc	p.N266T	MAG_ENST00000361922.4_Missense_Mutation_p.N266T|MAG_ENST00000537831.2_Missense_Mutation_p.N241T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	266	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCTGACAGCAACCCCCCGCCG	0.692																																					p.N266T													.	MAG	172		0			c.A797C												18.0	18.0	18.0					19																	35791134		2202	4297	6499	SO:0001583	missense	4099	exon6			ACAGCAACCCCCC	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.797A>C	19.37:g.35791134A>C	ENSP00000376048:p.Asn266Thr		Somatic	18	0.2222222222	4		WXS	Illumina HiSeq	Phase_I	17	0.24	4	NM_080600	0		0	B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	a	13.98	2.399145	0.42512	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.66460	-0.21;-0.21;-0.21	4.31	4.31	0.51392	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.60904	1.88	0.54753	D	0.999981	D;D;P	0.69078	0.997;0.972;0.94	D;P;P	0.77004	0.989;0.801;0.765	T	0.78183	-0.2303	10	0.59425	D	0.04	.	11.4519	0.50158	1.0:0.0:0.0:0.0	.	303;266;266	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	T	303;266;266;241	ENSP00000355234:N266T;ENSP00000376048:N266T;ENSP00000440695:N241T	ENSP00000262624:N303T	N	+	2	0	MAG	40482974	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	3.468000	0.53086	1.813000	0.52934	0.375000	0.23000	AAC			0.692	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000466071.1		NM_080600	
DMWD	1762	mdanderson.org	37	19	46287506	46287506	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:46287506C>A	ENST00000270223.6	-	5	2065	c.2020G>T	c.(2020-2022)Gtg>Ttg	p.V674L	DMPK_ENST00000458663.2_5'Flank|DMPK_ENST00000291270.4_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.V649L|DMPK_ENST00000354227.5_5'Flank|AC011530.4_ENST00000593999.1_Intron|DMPK_ENST00000447742.2_5'Flank|DMWD_ENST00000601370.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	674										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGGCTTCACACCACTGTGCCA	0.592																																					p.V674L													.	.			0			c.G2020T												58.0	57.0	57.0					19																	46287506		2203	4300	6503	SO:0001583	missense	1762	exon5			TTCACACCACTGT	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.2020G>T	19.37:g.46287506C>A	ENSP00000270223:p.Val674Leu		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	16	0.19	3	NM_004943	45	0.00	0		Missense_Mutation	SNP	ENST00000270223.6	37	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389399	0.61956	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.63096	-0.02;0.09	4.09	4.09	0.47781	.	0.000000	0.64402	D	0.000007	T	0.55641	0.1933	N	0.08118	0	0.40310	D	0.978705	P;B	0.52577	0.954;0.044	P;B	0.58013	0.831;0.011	T	0.64863	-0.6307	10	0.87932	D	0	.	11.9781	0.53105	0.0:1.0:0.0:0.0	.	649;674	G5E9A7;Q09019	.;DMWD_HUMAN	L	649;674	ENSP00000366964:V649L;ENSP00000270223:V674L	ENSP00000270223:V674L	V	-	1	0	DMWD	50979346	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.859000	0.55987	2.298000	0.77334	0.462000	0.41574	GTG			0.592	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402063.1		NM_004943	
TPRX1	284355	broad.mit.edu	37	19	48305670	48305670	+	Missense_Mutation	SNP	A	A	G	rs201483839	byFrequency	TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:48305670A>G	ENST00000322175.3	-	2	753	c.598T>C	c.(598-600)Tca>Cca	p.S200P	TPRX1_ENST00000535759.1_Missense_Mutation_p.S297P|TPRX1_ENST00000543508.1_Missense_Mutation_p.S190P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	200	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		atcgggactgagattgggcct	0.652													A|||	170	0.0339457	0.0151	0.0447	5008	,	,		12796	0.0456		0.0447	False		,,,				2504	0.0286				p.S200P	Esophageal Squamous(123;175 2281 3051 32395)												TPRX1,NS,carcinoma,0,3	TPRX1	46	3	0			c.T598C							A	PRO/SER	0,3516		0,0,1758	14.0	11.0	12.0		598	-0.8	0.0	19		12	3,6499		0,3,3248	no	missense	TPRX1	NM_198479.2	74	0,3,5006	GG,GA,AA		0.0461,0.0,0.0299	benign	200/412	48305670	3,10015	1758	3251	5009	SO:0001583	missense	284355	exon2			GGACTGAGATTGG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.598T>C	19.37:g.48305670A>G	ENSP00000323455:p.Ser200Pro		Somatic	48	0.0625	3		WXS	Illumina HiSeq	Phase_I	35	0.14	5	NM_198479	0		0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.349007	0.00219	0.0	4.61E-4	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.19250	2.16;2.16;2.16	0.401	-0.802	0.10889	.	.	.	.	.	T	0.07999	0.0200	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35871	-0.9771	8	0.09338	T	0.73	.	.	.	.	.	200	Q8N7U7	TPRX1_HUMAN	P	200;297;190	ENSP00000323455:S200P;ENSP00000438832:S297P;ENSP00000438712:S190P	ENSP00000323455:S200P	S	-	1	0	TPRX1	52997482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.289000	0.08365	-3.740000	0.00113	-3.841000	0.00018	TCA			0.652	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000409868.1		NM_198479	
KLK14	43847	broad.mit.edu	37	19	51582886	51582886	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr19:51582886G>T	ENST00000156499.2	-	5	552	c.334C>A	c.(334-336)Cgt>Agt	p.R112S	KLK14_ENST00000391802.1_Missense_Mutation_p.R112S			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	112	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCACCTGACGAACCACGCGC	0.652																																					p.R112S	GBM(117;2161 2172 2448 22911)												.	KLK14	49		0			c.C334A												43.0	49.0	47.0					19																	51582886		2087	4208	6295	SO:0001583	missense	43847	exon5			CCTGACGAACCAC	AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.334C>A	19.37:g.51582886G>T	ENSP00000156499:p.Arg112Ser		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	67	0.04	3	NM_022046	1	0.00	0	A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	18.44	3.624538	0.66901	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.93076	-3.16;-3.16	5.04	5.04	0.67666	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92642	0.7662	N	0.12611	0.24	0.39320	D	0.965234	D	0.57899	0.981	D	0.69307	0.963	D	0.94341	0.7570	9	0.56958	D	0.05	.	15.941	0.79754	0.0:0.0:1.0:0.0	.	112	Q9P0G3	KLK14_HUMAN	S	112	ENSP00000156499:R112S;ENSP00000375678:R112S	ENSP00000156499:R112S	R	-	1	0	KLK14	56274698	0.008000	0.16893	0.906000	0.35671	0.774000	0.43823	1.565000	0.36386	2.374000	0.81015	0.473000	0.43528	CGT			0.652	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000289774.2		NM_022046	
FBXO41	150726	mdanderson.org	37	2	73496315	73496315	+	Silent	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr2:73496315G>T	ENST00000521871.1	-	2	859	c.444C>A	c.(442-444)cgC>cgA	p.R148R	FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000295133.5_Silent_p.R209R|FBXO41_ENST00000520530.2_Silent_p.R148R			Q8TF61	FBX41_HUMAN	F-box protein 41	148										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCTCGATCTCGCGCAGCGCAT	0.756																																					p.R148R													.	.			0			c.C444A												1.0	2.0	2.0					2																	73496315		1006	2099	3105	SO:0001819	synonymous_variant	150726	exon1			GATCTCGCGCAGC	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.444C>A	2.37:g.73496315G>T			Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	22	0.09	2	NM_001080410	1	0.00	0	G3V0Z7|Q2M1V8	Silent	SNP	ENST00000521871.1	37	CCDS46337.2																																																																																					0.756	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377381.1			
ANKRD36C	400986	broad.mit.edu	37	2	96646519	96646519	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr2:96646519T>A	ENST00000456556.1	-	5	692	c.608A>T	c.(607-609)cAt>cTt	p.H203L				Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	203							ion channel inhibitor activity (GO:0008200)	p.H203L(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGTAACAGCATGTATGAGGGC	0.313																																					.													ENSG00000174501,NS,carcinoma,0,2	.		2	2	Substitution - Missense(2)	endometrium(1)|kidney(1)	.																																									SO:0001583	missense	400986	.			ACAGCATGTATGA	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.608A>T	2.37:g.96646519T>A	ENSP00000403302:p.His203Leu		Somatic	234	0	0		WXS	Illumina HiSeq	Phase_I	211	0.03	6	.	3	0.00	0	C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37		.	.	.	.	.	.	.	.	.	.	t	0.018	-1.473154	0.01044	.	.	ENSG00000174501	ENST00000456556	T	0.60920	0.15	0.845	0.845	0.18950	.	0.746432	0.10173	N	0.706819	T	0.18257	0.0438	N	0.00771	-1.2	0.20489	N	0.999892	.	.	.	.	.	.	T	0.27938	-1.0059	8	0.02654	T	1	.	2.9617	0.05895	0.6006:0.0:0.0:0.3994	.	.	.	.	L	203	ENSP00000403302:H203L	ENSP00000403302:H203L	H	-	2	0	AC073995.2	96010246	0.995000	0.38212	0.906000	0.35671	0.376000	0.30014	0.366000	0.20365	-0.138000	0.11434	-1.957000	0.00481	CAT			0.313	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000338799.2		NM_001010914	
SEPT10	151011	broad.mit.edu	37	2	110301827	110301828	+	3'UTR	INS	-	-	T	rs562796959|rs545969753	byFrequency	TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr2:110301827_110301828insT	ENST00000397712.2	-	0	1801_1802				SEPT10_ENST00000356688.4_Frame_Shift_Ins_p.L503fs|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CACACTTCTAGTTTTTTTTTAA	0.317													TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion	16	0.00319489	0.0	0.0086	5008	,	,		16525	0.001		0.008	False		,,,				2504	0.001				.													.	SEPT10	58		0			.								,	5,3487		0,5,1741					,	-0.1	0.0			63	31,7779		0,31,3874	no	utr-3,utr-3	SEPT10	NM_178584.1,NM_144710.2	,	0,36,5615	A1A1,A1R,RR		0.3969,0.1432,0.3185	,	,		36,11266				SO:0001624	3_prime_UTR_variant	151011	.			CTTCTAGTTTTTT	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*59->A	2.37:g.110301836_110301836dupT			Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	44	0.16	7	.	94	0.00	0	B3KRQ9|Q86VP5|Q9HAH6	Frame_Shift_Ins	INS	ENST00000397712.2	37	CCDS46383.1																																																																																					0.317	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000337804.1		NM_144710	
CSNK2A1	1457	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	485847	485847	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:485847C>T	ENST00000217244.3	-	4	503	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R43Q|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R43Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCCTAATTTTCGAACCAGCTG	0.338																																					p.R43Q													.	.			0			c.G128A												80.0	67.0	72.0					20																	485847		2203	4299	6502	SO:0001583	missense	1457	exon3			AATTTTCGAACCA	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.128G>A	20.37:g.485847C>T	ENSP00000217244:p.Arg43Gln		Somatic	342	0	0		WXS	Illumina HiSeq	.	237	0.45	106	NM_001895	12	0.50	6	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344041	0.82022	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.07114	3.22;3.22;3.22	4.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.05456	0.0144	N	0.25245	0.725	0.80722	D	1	P	0.49696	0.927	B	0.30943	0.122	T	0.45086	-0.9285	10	0.44086	T	0.13	-4.2591	16.8636	0.86024	0.0:1.0:0.0:0.0	.	43	P68400	CSK21_HUMAN	Q	43	ENSP00000383086:R43Q;ENSP00000339247:R43Q;ENSP00000217244:R43Q	ENSP00000217244:R43Q	R	-	2	0	CSNK2A1	433847	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.609000	0.82925	2.535000	0.85469	0.555000	0.69702	CGA			0.338	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077466.1		NM_001895	
TMX4	56255	broad.mit.edu	37	20	8000252	8000252	+	Silent	SNP	A	A	C			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:8000252A>C	ENST00000246024.2	-	1	224	c.9T>G	c.(7-9)ggT>ggG	p.G3G	RP5-971N18.3_ENST00000607924.1_RNA|RP5-971N18.3_ENST00000457707.1_RNA	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	3					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CGCAGCGCCCACCCGCCATGT	0.761																																					p.G3G													.	TMX4	39		0			c.T9G												1.0	1.0	1.0					20																	8000252		958	2169	3127	SO:0001819	synonymous_variant	56255	exon1			GCGCCCACCCGCC		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.9T>G	20.37:g.8000252A>C			Somatic	26	0.3461538462	9		WXS	Illumina HiSeq	Phase_I	36	0.50	18	NM_021156	1	0.00	0	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	CCDS13101.1																																																																																					0.761	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000077928.2		NM_021156	
FRG1B	284802	bcgsc.ca	37	20	29623182	29623182	+	5'UTR	SNP	G	G	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:29623182G>A	ENST00000278882.3	+	0	374				FRG1B_ENST00000439954.2_5'UTR|FRG1B_ENST00000358464.4_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CATAGCCATTGAAATGGATGA	0.378																																					.													.	FRG1B	181		0			.																																									SO:0001623	5_prime_UTR_variant	284802	.			GCCATTGAAATGG			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-7G>A	20.37:g.29623182G>A			Somatic	433	0.03926097	17		WXS	Illumina HiSeq	Phase_1	388	0.05	21	.	202	0.01	3	C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37																																																																																						0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000078494.2		NR_003579	
RBBP8NL	140893	ucsc.edu;bcgsc.ca	37	20	60988586	60988586	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr20:60988586G>T	ENST00000252998.1	-	11	1702	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	516	Pro-rich.					extracellular space (GO:0005615)											GACCCTGGAAGTGGGCGTGAG	0.642																																					p.L516I													.	.			0			c.C1546A												30.0	32.0	31.0					20																	60988586		2198	4296	6494	SO:0001583	missense	0	exon11			CTGGAAGTGGGCG	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1546C>A	20.37:g.60988586G>T	ENSP00000252998:p.Leu516Ile		Somatic	33	0.0303030303	1		WXS	Illumina HiSeq		36	0.11	4	NM_080833	9	0.00	0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	ENST00000252998.1	37	CCDS13498.1	.	.	.	.	.	.	.	.	.	.	G	8.542	0.873596	0.17322	.	.	ENSG00000130701	ENST00000252998	T	0.20881	2.04	2.66	-0.499	0.12015	.	1.276350	0.05784	N	0.609212	T	0.14399	0.0348	L	0.42245	1.32	0.09310	N	1	B	0.33826	0.427	B	0.29176	0.099	T	0.27020	-1.0086	10	0.18276	T	0.48	-2.9167	4.1837	0.10388	0.2405:0.1925:0.567:0.0	.	516	Q8NC74	CT151_HUMAN	I	516	ENSP00000252998:L516I	ENSP00000252998:L516I	L	-	1	0	C20orf151	60421981	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.224000	0.17738	-0.072000	0.12864	-0.254000	0.11334	CTT			0.642	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080029.1		NM_080833	
ZNRF3	84133	mdanderson.org	37	22	29446361	29446361	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr22:29446361G>A	ENST00000544604.2	+	8	2367	c.2192G>A	c.(2191-2193)aGc>aAc	p.S731N	ZNRF3_ENST00000402174.1_Missense_Mutation_p.S631N|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S631N|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S631N	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	731					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGGCAGCAGCACCTTGTTC	0.716																																					p.S731N													.	.			0			c.G2192A												9.0	11.0	11.0					22																	29446361		2000	4137	6137	SO:0001583	missense	84133	exon8			GCAGCAGCACCTT	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2192G>A	22.37:g.29446361G>A	ENSP00000443824:p.Ser731Asn		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	24	0.08	2	NM_001206998	24	0.00	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	7.349	0.622528	0.14193	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.71	4.71	0.59529	.	0.321618	0.29159	N	0.012969	T	0.71668	0.3367	L	0.51422	1.61	0.22552	N	0.998999	B	0.16166	0.016	B	0.10450	0.005	T	0.63152	-0.6701	10	0.44086	T	0.13	-16.4591	12.5469	0.56206	0.0:0.1675:0.8325:0.0	.	731	Q9ULT6	ZNRF3_HUMAN	N	731;631;438;631;631	ENSP00000443824:S731N;ENSP00000328614:S631N;ENSP00000384456:S631N;ENSP00000384553:S631N	ENSP00000328614:S631N	S	+	2	0	ZNRF3	27776361	1.000000	0.71417	0.870000	0.34147	0.211000	0.24417	5.512000	0.67030	2.174000	0.68829	0.655000	0.94253	AGC			0.716	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972	
NEFH	4744	hgsc.bcm.edu	37	22	29885638	29885638	+	Missense_Mutation	SNP	T	T	A	rs267607535|rs190692435		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr22:29885638T>A	ENST00000310624.6	+	4	2042	c.2009T>A	c.(2008-2010)gTg>gAg	p.V670E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	676	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGTCCCCAGTGAAGGCAGAA	0.562																																					p.V670E													NEFH,NS,lymphoid_neoplasm,0,1	NEFH	0	1	0			c.T2009A												93.0	100.0	98.0					22																	29885638		2203	4299	6502	SO:0001583	missense	4744	exon4			CCCCAGTGAAGGC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2009T>A	22.37:g.29885638T>A	ENSP00000311997:p.Val670Glu		Somatic	185	0.0108108108	2		WXS	Illumina HiSeq	.	231	0.05	11	NM_021076	80	0.04	3	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.746577	0.00086	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.82344	-1.6	4.7	1.26	0.21427	.	1.045180	0.07584	N	0.920821	T	0.75162	0.3812	N	0.24115	0.695	0.09310	N	1	B	0.31640	0.333	B	0.41202	0.35	T	0.64050	-0.6498	10	0.45353	T	0.12	.	3.8398	0.08909	0.1553:0.2981:0.0:0.5465	.	676	P12036	NFH_HUMAN	E	670	ENSP00000311997:V670E	ENSP00000311997:V670E	V	+	2	0	NEFH	28215638	0.968000	0.33430	0.005000	0.12908	0.183000	0.23260	0.000000	0.12993	-0.045000	0.13468	0.402000	0.26972	GTG			0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321553.2		NM_021076	
SNRK	54861	mdanderson.org	37	3	43345230	43345230	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr3:43345230G>T	ENST00000296088.7	+	3	839	c.535G>T	c.(535-537)Gca>Tca	p.A179S	SNRK_ENST00000429705.2_Missense_Mutation_p.A179S|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Missense_Mutation_p.A179S|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGGATCTCTTGCATATTCCGC	0.438																																					p.A179S													.	.			0			c.G535T												129.0	122.0	124.0					3																	43345230		1887	4121	6008	SO:0001583	missense	54861	exon3			TCTCTTGCATATT	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.535G>T	3.37:g.43345230G>T	ENSP00000296088:p.Ala179Ser		Somatic	137	0.0072992701	1		WXS	Illumina HiSeq	Phase_I	140	0.04	5	NM_017719	39	0.00	0		Missense_Mutation	SNP	ENST00000296088.7	37	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006800	0.93287	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	T;T;T	0.65364	-0.15;-0.15;-0.15	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	N	0.05619	-0.0049999999999999	0.80722	D	1	P;D	0.64830	0.633;0.994	B;D	0.64687	0.221;0.928	T	0.72323	-0.4328	10	0.72032	D	0.01	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	179;179	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	S	179	ENSP00000401246:A179S;ENSP00000411375:A179S;ENSP00000296088:A179S	ENSP00000296088:A179S	A	+	1	0	SNRK	43320234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.615000	0.88500	0.655000	0.94253	GCA			0.438	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344325.1		NM_017719	
CDHR4	389118	mdanderson.org	37	3	49830732	49830732	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr3:49830732G>T	ENST00000412678.2	-	13	1644	c.1636C>A	c.(1636-1638)Cat>Aat	p.H546N	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	546	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TCGGGGGCATGGTCATTCACA	0.567																																					p.H546N													.	.			0			c.C1636A												56.0	59.0	58.0					3																	49830732		692	1591	2283	SO:0001583	missense	389118	exon13			GGGCATGGTCATT		CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.1636C>A	3.37:g.49830732G>T	ENSP00000391409:p.His546Asn		Somatic	33	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_001007540	11	0.00	0	Q6UXT0	Missense_Mutation	SNP	ENST00000412678.2	37	CCDS46829.1	.	.	.	.	.	.	.	.	.	.	G	5.658	0.306047	0.10733	.	.	ENSG00000187492	ENST00000412678	T	0.12569	2.67	5.78	3.8	0.43715	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.03390	0.0098	N	0.00811	-1.165	0.80722	D	1	B	0.18013	0.025	B	0.15870	0.014	T	0.33523	-0.9865	8	.	.	.	.	5.8779	0.18838	0.0974:0.0:0.6355:0.267	.	546	A6H8M9	CDHR4_HUMAN	N	546	ENSP00000391409:H546N	.	H	-	1	0	CDHR4	49805736	0.921000	0.31238	0.612000	0.29024	0.707000	0.40811	0.594000	0.24014	1.376000	0.46267	-0.355000	0.07637	CAT			0.567	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350387.1		NM_001007540	
MUC4	4585	mdanderson.org	37	3	195511763	195511763	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr3:195511763T>C	ENST00000463781.3	-	2	7147	c.6688A>G	c.(6688-6690)Act>Gct	p.T2230A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T2230A|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)		GCTGAGGAAGTGTCGGTGACA	0.597																																					p.T2230A													.	.			0			c.A6688G												33.0	32.0	32.0					3																	195511763		675	1583	2258	SO:0001583	missense	4585	exon2			AGGAAGTGTCGGT	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.6688A>G	3.37:g.195511763T>C	ENSP00000417498:p.Thr2230Ala		Somatic	188	0.0053191489	1		WXS	Illumina HiSeq	Phase_I	206	0.05	10	NM_018406	3	0.00	0	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	.	.	.	.	.	.	.	.	.	.	t	2.721	-0.266642	0.05754	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31769	1.48;1.48	.	.	.	.	.	.	.	.	T	0.06645	0.0170	N	0.02539	-0.55	0.09310	N	0.999999	B	0.31837	0.342	B	0.17979	0.02	T	0.19976	-1.0289	6	.	.	.	.	.	.	.	.	2230	E7ESK3	.	A	2230	ENSP00000417498:T2230A;ENSP00000420243:T2230A	.	T	-	1	0	MUC4	196996158	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.755000	0.00789	-2.699000	0.00399	-2.418000	0.00219	ACT			0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
UGT2A3	79799	mdanderson.org	37	4	69817391	69817391	+	Missense_Mutation	SNP	G	G	A	rs535874025		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr4:69817391G>A	ENST00000251566.4	-	1	118	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	30					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGTCACAGGGCCACACCAGG	0.488																																					p.P30S													.	.			0			c.C88T												73.0	70.0	71.0					4																	69817391		2203	4300	6503	SO:0001583	missense	79799	exon1			CACAGGGCCACAC		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.88C>T	4.37:g.69817391G>A	ENSP00000251566:p.Pro30Ser		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_024743	5	0.00	0	Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661176	0.67700	.	.	ENSG00000135220	ENST00000251566	T	0.65178	-0.14	4.61	4.61	0.57282	.	0.168897	0.41500	D	0.000864	T	0.80686	0.4670	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84050	0.0369	10	0.72032	D	0.01	.	14.9692	0.71220	0.0:0.0:1.0:0.0	.	30	Q6UWM9	UD2A3_HUMAN	S	30	ENSP00000251566:P30S	ENSP00000251566:P30S	P	-	1	0	UGT2A3	69851980	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	2.437000	0.44828	2.397000	0.81536	0.491000	0.48974	CCC			0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251564.1		NM_024743	
RP11-597D13.7	0	broad.mit.edu	37	4	159199303	159199305	+	RNA	DEL	GAA	GAA	-			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr4:159199303_159199305delGAA	ENST00000512016.1	+	0	2665_2667																											TTTGGAATTTGAAGAAGAAGAAG	0.399																																					.													.	.			0			.																																											0	.			GAATTTGAAGAAG																													4.37:g.159199312_159199314delGAA			Somatic	242	0	0		WXS	Illumina HiSeq	Phase_I	222	0.04	8	.	0		0		RNA	DEL	ENST00000512016.1	37																																																																																						0.399	RP11-597D13.7-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000365621.1			
NSD1	64324	mdanderson.org	37	5	176721079	176721079	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr5:176721079C>T	ENST00000439151.2	+	23	6755	c.6710C>T	c.(6709-6711)gCa>gTa	p.A2237V	NSD1_ENST00000347982.4_Missense_Mutation_p.A1968V|NSD1_ENST00000361032.4_Missense_Mutation_p.A2134V|NSD1_ENST00000354179.4_Missense_Mutation_p.A1968V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2237	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTCACCTGGCAGAGCAATCA	0.572			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.A2237V				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.			0			c.C6710T												75.0	74.0	74.0					5																	176721079		2203	4300	6503	SO:0001583	missense	64324	exon23	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ACCTGGCAGAGCA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6710C>T	5.37:g.176721079C>T	ENSP00000395929:p.Ala2237Val		Somatic	69	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_022455	62	0.00	0	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644981	0.29246	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.31	3.53	0.40419	.	0.536086	0.18450	N	0.140847	T	0.63414	0.2509	N	0.19112	0.55	0.31393	N	0.677557	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.62324	-0.6878	10	0.48119	T	0.1	.	10.8199	0.46599	0.1299:0.8019:0.0:0.0682	.	1968;2237	Q96L73-2;Q96L73	.;NSD1_HUMAN	V	1968;2237;1968;2134	ENSP00000346111:A1968V;ENSP00000395929:A2237V;ENSP00000343209:A1968V;ENSP00000354310:A2134V	ENSP00000343209:A1968V	A	+	2	0	NSD1	176653685	0.667000	0.27484	0.973000	0.42090	0.656000	0.38851	1.820000	0.39032	0.790000	0.33803	0.655000	0.94253	GCA			0.572	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253412.2		NM_172349	
PRR7	80758	mdanderson.org	37	5	176882733	176882733	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr5:176882733G>T	ENST00000323249.3	+	4	926	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	PRR7_ENST00000510492.1_Missense_Mutation_p.D146Y|PRR7_ENST00000502922.1_Missense_Mutation_p.D146Y	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	146	Pro-rich.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGAATCGGACATGTCCAA	0.711																																					p.D146Y													.	.			0			c.G436T												8.0	10.0	9.0					5																	176882733		1991	4006	5997	SO:0001583	missense	80758	exon3			GAATCGGACATGT	BC021240	CCDS4419.1	5q35.3	2005-01-20			ENSG00000131188	ENSG00000131188			28130	protein-coding gene	gene with protein product						15629447	Standard	NM_030567		Approved	MGC10772	uc003mgw.2	Q8TB68	OTTHUMG00000130861	ENST00000323249.3:c.436G>T	5.37:g.176882733G>T	ENSP00000327168:p.Asp146Tyr		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_001174102	11	0.00	0	Q8WU53|Q9BTA7	Missense_Mutation	SNP	ENST00000323249.3	37	CCDS4419.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838178	0.71373	.	.	ENSG00000131188	ENST00000507881;ENST00000323249;ENST00000502922;ENST00000510492;ENST00000355386	T;T;T;T	0.62364	0.15;0.03;0.03;0.03	3.48	3.48	0.39840	.	0.000000	0.64402	D	0.000005	T	0.56543	0.1992	N	0.14661	0.345	0.44531	D	0.99748	D	0.59357	0.985	P	0.56823	0.807	T	0.62671	-0.6805	10	0.87932	D	0	-30.0495	10.6476	0.45630	0.0:0.0:1.0:0.0	.	146	Q8TB68	PRR7_HUMAN	Y	146;146;146;146;126	ENSP00000426601:D146Y;ENSP00000327168:D146Y;ENSP00000420872:D146Y;ENSP00000421039:D146Y	ENSP00000327168:D146Y	D	+	1	0	PRR7	176815339	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.884000	0.87274	1.939000	0.56221	0.313000	0.20887	GAC			0.711	PRR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253435.1		NM_030567	
UNC5CL	222643	mdanderson.org	37	6	41002533	41002533	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr6:41002533C>T	ENST00000373164.1	-	1	341	c.281G>A	c.(280-282)cGc>cAc	p.R94H	UNC5CL_ENST00000244565.3_Missense_Mutation_p.R94H|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	94					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATCAACTGGCGGACCATGGT	0.567																																					p.R94H													UNC5CL,colon,carcinoma,-1,1	UNC5CL	-1	1	0			c.G281A												219.0	190.0	200.0					6																	41002533		2203	4300	6503	SO:0001583	missense	222643	exon2			AACTGGCGGACCA	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.281G>A	6.37:g.41002533C>T	ENSP00000362258:p.Arg94His		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_173561	3	0.00	0	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361089	0.24684	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16324	2.35;2.35	4.66	3.77	0.43336	.	0.146312	0.33438	N	0.004904	T	0.04861	0.0131	L	0.27053	0.805	0.36584	D	0.873714	B	0.23185	0.081	B	0.14023	0.01	T	0.14144	-1.0483	10	0.41790	T	0.15	-27.0954	8.8131	0.34978	0.0:0.8949:0.0:0.1051	.	94	Q8IV45	UN5CL_HUMAN	H	94	ENSP00000244565:R94H;ENSP00000362258:R94H	ENSP00000244565:R94H	R	-	2	0	UNC5CL	41110511	0.092000	0.21681	0.649000	0.29536	0.180000	0.23129	0.859000	0.27858	2.426000	0.82243	0.563000	0.77884	CGC			0.567	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040491.1		NM_173561	
ABCC10	89845	broad.mit.edu	37	6	43403589	43403589	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr6:43403589G>T	ENST00000372530.4	+	5	1924	c.1709G>T	c.(1708-1710)cGg>cTg	p.R570L	ABCC10_ENST00000244533.3_Missense_Mutation_p.R527L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TCCTTGGACCGGATCCAGCTT	0.567																																					p.R570L													ABCC10,NS,carcinoma,0,2	ABCC10	118	2	2	Substitution - Missense(2)	prostate(1)|lung(1)	c.G1709T												113.0	102.0	106.0					6																	43403589		2203	4300	6503	SO:0001583	missense	89845	exon5			TGGACCGGATCCA	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1709G>T	6.37:g.43403589G>T	ENSP00000361608:p.Arg570Leu		Somatic	459	0	0		WXS	Illumina HiSeq	Phase_I	546	0.01	6	NM_001198934	28	0.00	0	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786082	0.90282	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.97232	-4.3;-3.96;-3.96	5.3	5.3	0.74995	ABC transporter, transmembrane domain, type 1 (1);	0.072532	0.56097	D	0.000025	D	0.98969	0.9649	H	0.94771	3.58	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99659	1.0993	10	0.87932	D	0	-36.0171	18.9723	0.92719	0.0:0.0:1.0:0.0	.	527;570	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	126;570;527	ENSP00000361593:R126L;ENSP00000361608:R570L;ENSP00000244533:R527L	ENSP00000244533:R527L	R	+	2	0	ABCC10	43511567	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.492000	0.84095	0.462000	0.41574	CGG			0.567	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040603.2		NM_033450	
NHSL1	57224	mdanderson.org	37	6	138745565	138745565	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr6:138745565A>G	ENST00000427025.2	-	7	5114	c.4486T>C	c.(4486-4488)Ttt>Ctt	p.F1496L	NHSL1_ENST00000343505.5_Missense_Mutation_p.F1492L	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	1496										breast(2)|endometrium(4)|kidney(1)	7						GGGCCGGAAAAGGACAGACTC	0.642																																					p.F1496L													.	.			0			c.T4486C												45.0	47.0	47.0					6																	138745565		692	1591	2283	SO:0001583	missense	57224	exon7			CGGAAAAGGACAG	AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.4486T>C	6.37:g.138745565A>G	ENSP00000394546:p.Phe1496Leu		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	63	0.05	3	NM_020464	20	0.00	0	Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	ENST00000427025.2	37	CCDS55063.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372848	0.42105	.	.	ENSG00000135540	ENST00000427025;ENST00000343505	T;T	0.34859	1.34;1.83	6.08	6.08	0.98989	.	0.437112	0.24879	N	0.034861	T	0.16514	0.0397	L	0.45137	1.4	0.32906	D	0.513815	B;B	0.30870	0.298;0.298	B;B	0.39971	0.315;0.222	T	0.15407	-1.0438	10	0.10111	T	0.7	-22.8895	8.3316	0.32189	0.7992:0.1329:0.0678:0.0	.	1492;1496	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	L	1496;1492	ENSP00000394546:F1496L;ENSP00000344672:F1492L	ENSP00000344672:F1492L	F	-	1	0	NHSL1	138787258	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	4.018000	0.57174	2.333000	0.79357	0.533000	0.62120	TTT			0.642	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043700.2		XM_050421	
SSPO	23145	mdanderson.org	37	7	149499203	149499203	+	RNA	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr7:149499203G>T	ENST00000378016.2	+	0	7571							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTTCCAGCGCCAGGAGCTG	0.701																																					p.R2524L													.	.			0			c.G7571T												4.0	6.0	5.0					7																	149499203		1794	3849	5643			23145	exon51			TCCAGCGCCAGGA	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149499203G>T			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	15	0.20	3	NM_198455	0		0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.701	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					
PHYHIP	9796	broad.mit.edu	37	8	22079280	22079280	+	Silent	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:22079280G>T	ENST00000321613.3	-	6	1035	c.579C>A	c.(577-579)ggC>ggA	p.G193G	PHYHIP_ENST00000454243.2_Silent_p.G193G	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	193										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGGGGCTGGCCCGTGTTGA	0.622																																					p.G193G													.	PHYHIP	24		0			c.C579A												16.0	22.0	20.0					8																	22079280		1977	4149	6126	SO:0001819	synonymous_variant	9796	exon5			GGGCTGGCCCGTG	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.579C>A	8.37:g.22079280G>T			Somatic	97	0	0		WXS	Illumina HiSeq	Phase_I	162	0.07	11	NM_014759	13	0.08	1	D3DSR1|Q8N4I9	Silent	SNP	ENST00000321613.3	37	CCDS43723.1																																																																																					0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000375388.1		NM_014759	
SORBS3	10174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	22424177	22424177	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:22424177C>T	ENST00000240123.7	+	14	1477	c.1094C>T	c.(1093-1095)cCt>cTt	p.P365L	SORBS3_ENST00000428103.1_Missense_Mutation_p.P23L|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	365					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCCACAGACCCTAGTGCCTCT	0.637																																					p.P365L													.	.			0			c.C1094T												54.0	52.0	53.0					8																	22424177		2203	4300	6503	SO:0001583	missense	10174	exon14			CAGACCCTAGTGC		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1094C>T	8.37:g.22424177C>T	ENSP00000240123:p.Pro365Leu		Somatic	113	0	0		WXS	Illumina HiSeq	.	179	0.26	46	NM_005775	441	0.22	95	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882466	0.33255	.	.	ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000522721	T;T;T;T;T;T	0.27557	3.1;1.66;3.08;1.87;2.47;1.77	5.63	5.63	0.86233	.	0.000000	0.49305	D	0.000154	T	0.31765	0.0807	L	0.60455	1.87	0.19300	N	0.999978	P	0.38922	0.651	B	0.35859	0.212	T	0.34054	-0.9844	10	0.46703	T	0.11	-3.9812	15.1825	0.72972	0.0:1.0:0.0:0.0	.	365	O60504	VINEX_HUMAN	L	365;23;23;23;23;23	ENSP00000240123:P365L;ENSP00000431128:P23L;ENSP00000408476:P23L;ENSP00000429887:P23L;ENSP00000429764:P23L;ENSP00000429479:P23L	ENSP00000240123:P365L	P	+	2	0	SORBS3	22480122	0.007000	0.16637	0.832000	0.32986	0.235000	0.25334	1.206000	0.32321	2.665000	0.90641	0.655000	0.94253	CCT			0.637	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254647.3		NM_005775	
BAI1	575	mdanderson.org	37	8	143603471	143603471	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:143603471G>T	ENST00000517894.1	+	21	4064	c.3170G>T	c.(3169-3171)gGc>gTc	p.G1057V	BAI1_ENST00000323289.5_Missense_Mutation_p.G1057V			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1057					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCTGCCTGGGCTGGGGTGAG	0.672																																					p.G1057V													BAI1,NS,carcinoma,-1,1	BAI1	-1	1	0			c.G3170T												32.0	40.0	37.0					8																	143603471		2196	4296	6492	SO:0001583	missense	575	exon20			GCCTGGGCTGGGG	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3170G>T	8.37:g.143603471G>T	ENSP00000430945:p.Gly1057Val		Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_001702	8	0.00	0		Missense_Mutation	SNP	ENST00000517894.1	37		.	.	.	.	.	.	.	.	.	.	G	16.14	3.038921	0.55003	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	D;D	0.84660	-1.88;-1.88	3.78	3.78	0.43462	.	0.151741	0.43260	U	0.000583	D	0.89989	0.6875	M	0.92459	3.31	0.80722	D	1	B	0.33022	0.394	B	0.39840	0.311	D	0.91897	0.5528	10	0.87932	D	0	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1057	E9PBK0	.	V	1057	ENSP00000430945:G1057V;ENSP00000313046:G1057V	ENSP00000313046:G1057V	G	+	2	0	BAI1	143600473	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	9.490000	0.97952	1.641000	0.50575	0.305000	0.20034	GGC			0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000379963.3		NM_001702	
ZNF7	7553	hgsc.bcm.edu	37	8	146067136	146067136	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr8:146067136G>T	ENST00000528372.1	+	5	884	c.644G>T	c.(643-645)tGg>tTg	p.W215L	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.W119L|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.W215L|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.W226L|ZNF7_ENST00000525266.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	215					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GCTCTGCATTGGGAAATTAAT	0.458																																					p.W215L													.	.			0			c.G644T												53.0	55.0	54.0					8																	146067136		2203	4300	6503	SO:0001583	missense	7553	exon5			TGCATTGGGAAAT	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.644G>T	8.37:g.146067136G>T	ENSP00000432724:p.Trp215Leu		Somatic	51	0	0		WXS	Illumina HiSeq	.	100	0.04	4	NM_003416	68	0.00	0	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246822	0.39697	.	.	ENSG00000147789	ENST00000532777;ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.63	-6.74	0.01743	.	3.521750	0.00559	N	0.000276	T	0.18130	0.0435	N	0.05230	-0.09	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27739	-1.0065	10	0.54805	T	0.06	3.3476	8.4829	0.33054	0.6725:0.0:0.2255:0.102	.	226;215	B4DT08;P17097	.;ZNF7_HUMAN	L	215;215;226;119;215	ENSP00000432641:W215L;ENSP00000320627:W215L;ENSP00000393260:W226L;ENSP00000439424:W119L;ENSP00000432724:W215L	ENSP00000320627:W215L	W	+	2	0	ZNF7	146037940	0.000000	0.05858	0.000000	0.03702	0.413000	0.31143	-1.796000	0.01750	-1.292000	0.02366	0.462000	0.41574	TGG			0.458	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382660.1		NM_003416	
LOC403323	403323	bcgsc.ca	37	9	66514131	66514131	+	IGR	SNP	C	C	A	rs200577194		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:66514131C>A								RP11-262H14.1 (44821 upstream) : RP11-262H14.7 (3074 downstream)																							ATTTGAAGAACAGGTAACAGT	0.458																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	392335	.			GAAGAACAGGTAA																													9.37:g.66514131C>A			Somatic	48	0.0208333333	1		WXS	Illumina HiSeq	Phase_1	58	0.16	9	.	0		0		RNA	SNP		37																																																																																					0	0.458										
ZNF189	7743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	104171915	104171915	+	Missense_Mutation	SNP	C	C	G	rs200682925		TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:104171915C>G	ENST00000339664.2	+	3	1994	c.1865C>G	c.(1864-1866)aCa>aGa	p.T622R	ZNF189_ENST00000374861.3_Missense_Mutation_p.T608R|ZNF189_ENST00000259395.4_Missense_Mutation_p.T580R	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	622					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T622I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAATTGCACACAGCATGGATG	0.398																																					p.T622R													ZNF189,NS,carcinoma,0,1	ZNF189	0	1	1	Substitution - Missense(1)	endometrium(1)	c.C1865G												58.0	58.0	58.0					9																	104171915		2202	4299	6501	SO:0001583	missense	7743	exon3			TGCACACAGCATG	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1865C>G	9.37:g.104171915C>G	ENSP00000342019:p.Thr622Arg		Somatic	76	0	0		WXS	Illumina HiSeq	.	60	0.40	24	NM_003452	42	0.50	21	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976771	0.34848	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.19105	2.17;2.17;2.17	4.36	3.45	0.39498	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.492717	0.17293	N	0.179577	T	0.39279	0.1072	M	0.79258	2.445	0.24912	N	0.992031	B;P;B	0.52316	0.333;0.952;0.088	B;P;B	0.61477	0.275;0.889;0.202	T	0.18178	-1.0345	10	0.87932	D	0	.	5.626	0.17482	0.0:0.6901:0.202:0.1079	.	607;608;622	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	R	608;622;580	ENSP00000363995:T608R;ENSP00000342019:T622R;ENSP00000259395:T580R	ENSP00000259395:T580R	T	+	2	0	ZNF189	103211736	0.000000	0.05858	0.949000	0.38748	0.994000	0.84299	0.623000	0.24447	1.413000	0.46997	0.655000	0.94253	ACA			0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053447.1		NM_003452	
CRB2	286204	mdanderson.org	37	9	126133061	126133061	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:126133061G>T	ENST00000373631.3	+	7	1730	c.1729G>T	c.(1729-1731)Gca>Tca	p.A577S	CRB2_ENST00000359999.3_Missense_Mutation_p.A577S|CRB2_ENST00000373629.2_Missense_Mutation_p.A245S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	577	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCGACCTTTGCAGGCTGCCT	0.677																																					p.A577S													.	.			0			c.G1729T												51.0	52.0	52.0					9																	126133061		2203	4300	6503	SO:0001583	missense	286204	exon7			ACCTTTGCAGGCT	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1729G>T	9.37:g.126133061G>T	ENSP00000362734:p.Ala577Ser		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	14	0.14	2	NM_173689	2	0.00	0	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	5.836	0.338438	0.11069	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.675191	0.12884	N	0.431155	T	0.70491	0.3230	M	0.63428	1.95	0.19300	N	0.999976	B;B	0.28933	0.166;0.228	B;B	0.28916	0.096;0.058	T	0.55945	-0.8060	10	0.09084	T	0.74	.	8.3178	0.32111	0.2395:0.0:0.7605:0.0	.	577;577	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	S	577;577;245	ENSP00000353092:A577S;ENSP00000362734:A577S;ENSP00000362732:A245S	ENSP00000353092:A577S	A	+	1	0	CRB2	125172882	0.652000	0.27349	0.043000	0.18650	0.114000	0.19823	1.989000	0.40707	1.087000	0.41251	0.448000	0.29417	GCA			0.677	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053990.3		NM_173689	
NACC2	138151	mdanderson.org	37	9	138903726	138903726	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:138903726C>T	ENST00000371753.1	-	5	1458	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	NACC2_ENST00000277554.2_Missense_Mutation_p.R467H			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	467					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CATGACCGTGCGGTACATCTC	0.697																																					p.R467H													NACC2,colon,carcinoma,-1,1	NACC2	-1	1	0			c.G1400A												20.0	17.0	18.0					9																	138903726		2182	4275	6457	SO:0001583	missense	138151	exon6			ACCGTGCGGTACA	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1400G>A	9.37:g.138903726C>T	ENSP00000360818:p.Arg467His		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	13	0.15	2	NM_144653	30	0.00	0		Missense_Mutation	SNP	ENST00000371753.1	37	CCDS6993.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004464	0.54254	.	.	ENSG00000148411	ENST00000371753;ENST00000277554	T;T	0.65364	-0.15;-0.15	5.23	4.32	0.51571	.	0.066769	0.64402	D	0.000013	T	0.47432	0.1445	N	0.24115	0.695	0.42482	D	0.992863	B	0.30605	0.287	B	0.19666	0.026	T	0.50406	-0.8832	10	0.66056	D	0.02	.	14.9768	0.71281	0.0:0.8566:0.1434:0.0	.	467	Q96BF6	NACC2_HUMAN	H	467	ENSP00000360818:R467H;ENSP00000277554:R467H	ENSP00000277554:R467H	R	-	2	0	NACC2	138043547	1.000000	0.71417	0.996000	0.52242	0.722000	0.41435	6.988000	0.76212	1.182000	0.42928	0.313000	0.20887	CGC			0.697	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055040.1		NM_144653	
SNAPC4	6621	mdanderson.org	37	9	139286450	139286450	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chr9:139286450C>T	ENST00000298532.2	-	9	1287	c.919G>A	c.(919-921)Gcg>Acg	p.A307T		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCCGCGATCGCCTGCAGCCGC	0.662																																					p.A307T													.	.			0			c.G919A												81.0	76.0	77.0					9																	139286450		2203	4300	6503	SO:0001583	missense	6621	exon9			CGATCGCCTGCAG	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.919G>A	9.37:g.139286450C>T	ENSP00000298532:p.Ala307Thr		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_003086	26	0.00	0		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200665	0.22121	.	.	ENSG00000165684	ENST00000298532	T	0.29917	1.55	5.69	4.79	0.61399	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.493499	0.21514	N	0.073336	T	0.33702	0.0872	L	0.58428	1.81	0.09310	N	0.999999	P	0.40398	0.716	B	0.42245	0.381	T	0.19353	-1.0308	10	0.46703	T	0.11	-10.0695	11.1974	0.48722	0.0:0.8011:0.1276:0.0713	.	307	Q5SXM2	SNPC4_HUMAN	T	307	ENSP00000298532:A307T	ENSP00000298532:A307T	A	-	1	0	SNAPC4	138406271	0.003000	0.15002	0.014000	0.15608	0.020000	0.10135	0.498000	0.22530	1.375000	0.46248	0.655000	0.94253	GCG			0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055071.1		NM_003086	
CA5BP1	340591	broad.mit.edu	37	X	15715612	15715614	+	RNA	DEL	CTC	CTC	-			TCGA-2G-AAGX-01A-11D-A42Y-10	TCGA-2G-AAGX-10A-01D-A433-10	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee49b449-611e-4175-a114-1034657b6be6	e937a8a8-262b-4b40-8505-ac1c9162f5e4	g.chrX:15715612_15715614delCTC	ENST00000380334.2	+	0	321							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										GGGCCTGGAGCTCCTCTGGACCA	0.463																																					.													.	.			0			.																																											0	.			CTGGAGCTCCTCT	BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15715615_15715617delCTC			Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	31	0.48	15	.	11	0.00	0	A6NEZ4	RNA	DEL	ENST00000380334.2	37																																																																																						0.463	CA5BP1-005	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000055884.3		NR_026551	
