#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NTotCov_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVarCov_SOL	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ISL2	64843	hgsc.bcm.edu	37	15	76632660	76632661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:76632660_76632661insA	ENST00000290759.4	+	4	715_716	c.555_556insA	c.(556-558)aagfs	p.K186fs	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	186					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CGCACGTGCACAAGCAGACGGA	0.713																																					p.H185fs	GBM(97;953 1391 16164 31496 36951)	.											.	.	.	0			c.555_556insA						.																																			SO:0001589	frameshift_variant	64843	exon4			CGTGCACAAGCAG	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.557dupA	15.37:g.76632662_76632662dupA	ENSP00000290759:p.Lys186fs	Somatic	76	0		WXS	Illumina HiSeq	.	39	15	NM_145805	B3KM37	Frame_Shift_Ins	INS	ENST00000290759.4	37	CCDS10290.1																																																																																			.		0.713	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1		
EP400	57634	hgsc.bcm.edu	37	12	132514441	132514441	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:132514441C>T	ENST00000333577.4	+	29	5794	c.5685C>T	c.(5683-5685)ttC>ttT	p.F1895F	EP400_ENST00000330386.6_Silent_p.F1778F|EP400_ENST00000332482.4_Silent_p.F1822F|EP400_ENST00000389561.2_Silent_p.F1859F|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000389562.2_Silent_p.F1858F			Q96L91	EP400_HUMAN	E1A binding protein p400	1895					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGTGCAGTTCGACTCAGGTA	0.652																																					p.F1859F		.											.	.	.	0			c.C5577T						.						38.0	36.0	37.0					12																	132514441		2203	4300	6503	SO:0001819	synonymous_variant	57634	exon28			GCAGTTCGACTCA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5685C>T	12.37:g.132514441C>T		Somatic	86	0		WXS	Illumina HiSeq	.	51	4	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																				.		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
HAPLN3	145864	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	89424838	89424838	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:89424838C>T	ENST00000359595.3	-	3	457	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HAPLN3_ENST00000562889.1_Silent_p.P143P	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	81	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.P81P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCACACGCCGCGGGGAGACCA	0.662																																					p.P81P		.											HAPLN3,colon,carcinoma,0,1	HAPLN3	0	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A						.						66.0	67.0	67.0					15																	89424838		2200	4298	6498	SO:0001819	synonymous_variant	145864	exon3			ACGCCGCGGGGAG	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.243G>A	15.37:g.89424838C>T		Somatic	43	0		WXS	Illumina HiSeq	.	17	9	NM_178232	A8K7P0	Silent	SNP	ENST00000359595.3	37	CCDS10346.1																																																																																			.		0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
SAMD9	54809	hgsc.bcm.edu	37	7	92733180	92733180	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:92733180G>T	ENST00000379958.2	-	3	2500	c.2231C>A	c.(2230-2232)aCt>aAt	p.T744N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	744						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.T744S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCCAAGGTAGTTCCCCCACA	0.388																																					p.T744N		.											SAMD9,NS,carcinoma,0,1	SAMD9	0	1	Substitution - Missense(1)	breast(1)	c.C2231A						.						228.0	216.0	220.0					7																	92733180		2203	4300	6503	SO:0001583	missense	54809	exon2			AAGGTAGTTCCCC	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2231C>A	7.37:g.92733180G>T	ENSP00000369292:p.Thr744Asn	Somatic	125	0		WXS	Illumina HiSeq	.	60	3	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613888	0.66672	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.92699	-3.09;-3.09	4.44	4.44	0.53790	.	0.179641	0.34828	U	0.003642	D	0.95500	0.8538	M	0.78049	2.395	0.40625	D	0.981802	D	0.76494	0.999	D	0.67725	0.953	D	0.96348	0.9256	10	0.72032	D	0.01	.	15.7702	0.78162	0.0:0.0:1.0:0.0	.	744	Q5K651	SAMD9_HUMAN	N	744	ENSP00000369292:T744N;ENSP00000414529:T744N	ENSP00000369292:T744N	T	-	2	0	SAMD9	92571116	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.002000	0.70693	2.303000	0.77524	0.609000	0.83330	ACT	.		0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
PXDN	7837	hgsc.bcm.edu;broad.mit.edu	37	2	1670036	1670036	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:1670036G>A	ENST00000252804.4	-	10	1291	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	414	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGTTGGTCGCAGAGCACGC	0.592																																					p.A414V		.											PXDN,NS,carcinoma,0,1	PXDN	0	0			c.C1241T						.						71.0	76.0	74.0					2																	1670036		2172	4260	6432	SO:0001583	missense	7837	exon10			TTGGTCGCAGAGC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1241C>T	2.37:g.1670036G>A	ENSP00000252804:p.Ala414Val	Somatic	66	0		WXS	Illumina HiSeq	.	49	3	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.54|19.54	3.847150|3.847150	0.71603|0.71603	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.72505|.	-0.66|.	4.57|4.57	4.57|4.57	0.56435|0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76543|.	0.4002|.	M|M	0.79693|0.79693	2.465|2.465	0.54753|0.54753	D|D	0.999984|0.999984	D;P|.	0.55385|.	0.971;0.935|.	P;P|.	0.51385|.	0.599;0.668|.	T|.	0.78565|.	-0.2155|.	10|.	0.87932|.	D|.	0|.	-26.066|-26.066	15.7097|15.7097	0.77615|0.77615	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	414;414|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|X	414|410	ENSP00000252804:A414V|.	ENSP00000252804:A414V|.	A|R	-|-	2|1	0|2	PXDN|PXDN	1649043|1649043	1.000000|1.000000	0.71417|0.71417	0.780000|0.780000	0.31762|0.31762	0.037000|0.037000	0.13140|0.13140	9.560000|9.560000	0.98139|0.98139	2.362000|2.362000	0.80069|0.80069	0.655000|0.655000	0.94253|0.94253	GCG|CGA	.		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
AR	367	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	66765910	66765910	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chrX:66765910G>A	ENST00000374690.3	+	1	1446	c.922G>A	c.(922-924)Gag>Aag	p.E308K	AR_ENST00000504326.1_Missense_Mutation_p.E308K|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.E308K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	306	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AGATACTGCTGAGTATTCCCC	0.577									Androgen Insensitivity Syndrome																												p.E308K		.											.	.	.	0			c.G922A						.						56.0	45.0	49.0					X																	66765910		2203	4300	6503	SO:0001583	missense	367	exon1	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	ACTGCTGAGTATT	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.922G>A	X.37:g.66765910G>A	ENSP00000363822:p.Glu308Lys	Somatic	64	0		WXS	Illumina HiSeq	.	15	11	NM_000044	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.977745	0.74360	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95518	-3.73;-3.73;-3.73	4.88	4.88	0.63580	.	0.804918	0.11792	N	0.529121	D	0.96981	0.9014	M	0.91561	3.22	0.24935	N	0.99189	P;P;P	0.49447	0.786;0.65;0.924	P;B;P	0.51945	0.685;0.411;0.622	D	0.92693	0.6168	10	0.18276	T	0.48	.	12.1635	0.54117	0.0:0.0:1.0:0.0	.	308;308;306	E7EVX6;D3YPQ2;P10275	.;.;ANDR_HUMAN	K	118;308;308;308;300	ENSP00000363822:E308K;ENSP00000421155:E308K;ENSP00000379359:E308K	ENSP00000363822:E308K	E	+	1	0	AR	66682635	1.000000	0.71417	0.932000	0.37286	0.872000	0.50106	4.877000	0.63086	2.260000	0.74910	0.509000	0.49947	GAG	.		0.577	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
GAD1	2571	hgsc.bcm.edu	37	2	171702096	171702096	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:171702096G>A	ENST00000358196.3	+	8	1382	c.832G>A	c.(832-834)Gct>Act	p.A278T		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	278					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGGCATGGCGGCTGTGCCTAA	0.507																																					p.A278T		.											GAD1,caecum,carcinoma,0,1	GAD1	0	0			c.G832A						.						108.0	109.0	108.0					2																	171702096		2203	4300	6503	SO:0001583	missense	2571	exon8			ATGGCGGCTGTGC		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.832G>A	2.37:g.171702096G>A	ENSP00000350928:p.Ala278Thr	Somatic	81	0		WXS	Illumina HiSeq	.	64	3	NM_000817	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227197	0.79576	.	.	ENSG00000128683	ENST00000358196	T	0.37411	1.2	5.67	5.67	0.87782	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.79011	2.435	0.80722	D	1	P	0.40578	0.722	B	0.44278	0.445	T	0.52533	-0.8563	10	0.49607	T	0.09	-12.3402	19.7657	0.96340	0.0:0.0:1.0:0.0	.	278	Q99259	DCE1_HUMAN	T	278	ENSP00000350928:A278T	ENSP00000350928:A278T	A	+	1	0	GAD1	171410342	1.000000	0.71417	0.555000	0.28281	0.971000	0.66376	9.476000	0.97823	2.649000	0.89929	0.655000	0.94253	GCT	.		0.507	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2		
NFATC2	4773	hgsc.bcm.edu	37	20	50092014	50092014	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:50092014T>G	ENST00000396009.3	-	4	1735	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	NFATC2_ENST00000609943.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000610033.1_Missense_Mutation_p.K287Q|NFATC2_ENST00000609507.1_Missense_Mutation_p.K287Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000371564.3_Missense_Mutation_p.K506Q	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	506	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K506Q(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGTTGTTTTTGGGCTCCAAG	0.577																																					p.K506Q		.											NFATC2,right_upper_lobe,carcinoma,0,2	NFATC2	0	1	Substitution - Missense(1)	prostate(1)	c.A1516C						.						181.0	186.0	184.0					20																	50092014		2203	4300	6503	SO:0001583	missense	4773	exon4			TGTTTTTGGGCTC	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1516A>C	20.37:g.50092014T>G	ENSP00000379330:p.Lys506Gln	Somatic	73	1		WXS	Illumina HiSeq	.	66	4	NM_012340	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597747	0.66332	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.45276	0.9;0.9;0.9	5.26	5.26	0.73747	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.43152	1.355	0.45528	D	0.998486	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.998;0.988;0.998;0.998	T	0.60500	-0.7251	10	0.72032	D	0.01	-14.8818	15.1948	0.73078	0.0:0.0:0.0:1.0	.	486;486;506;506	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	Q	506;506;486	ENSP00000360619:K506Q;ENSP00000379330:K506Q;ENSP00000396471:K486Q	ENSP00000360619:K506Q	K	-	1	0	NFATC2	49525421	1.000000	0.71417	0.982000	0.44146	0.941000	0.58515	3.350000	0.52224	1.982000	0.57802	0.477000	0.44152	AAA	.		0.577	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
NEBL	10529	hgsc.bcm.edu;bcgsc.ca	37	10	21169808	21169808	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:21169808G>T	ENST00000377122.4	-	5	791	c.395C>A	c.(394-396)gCt>gAt	p.A132D	NEBL_ENST00000377119.1_Missense_Mutation_p.A132D|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	132				KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). {ECO:0000305}.	cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTTTGGCAGCATCATGTTT	0.413																																					p.A132D		.											.	.	.	0			c.C395A						.						131.0	131.0	131.0					10																	21169808		2203	4300	6503	SO:0001583	missense	10529	exon5			TTGGCAGCATCAT	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.395C>A	10.37:g.21169808G>T	ENSP00000366326:p.Ala132Asp	Somatic	127	0		WXS	Illumina HiSeq	.	62	4	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665700	0.88251	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.45668	3.49;0.89;1.22	5.8	5.8	0.92144	.	0.193154	0.47093	D	0.000247	T	0.55000	0.1893	M	0.69823	2.125	0.80722	D	1	P	0.38745	0.645	P	0.45071	0.468	T	0.54302	-0.8314	10	0.51188	T	0.08	.	20.0522	0.97631	0.0:0.0:1.0:0.0	.	132	O76041	NEBL_HUMAN	D	132;132;116	ENSP00000366326:A132D;ENSP00000366323:A132D;ENSP00000396512:A116D	ENSP00000366323:A132D	A	-	2	0	NEBL	21209814	1.000000	0.71417	0.634000	0.29324	0.825000	0.46686	7.159000	0.77483	2.737000	0.93849	0.563000	0.77884	GCT	.		0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
VMO1	284013	hgsc.bcm.edu	37	17	4688807	4688807	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:4688807C>A	ENST00000328739.5	-	3	538	c.459G>T	c.(457-459)caG>caT	p.Q153H	VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000354194.4_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	153						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCCAGGCCCCTGCAGTTCCT	0.637																																					p.Q153H		.											VMO1,NS,carcinoma,0,1	VMO1	0	0			c.G459T						.						83.0	77.0	79.0					17																	4688807		2203	4300	6503	SO:0001583	missense	284013	exon3			AGGCCCCTGCAGT	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.459G>T	17.37:g.4688807C>A	ENSP00000328397:p.Gln153His	Somatic	55	0		WXS	Illumina HiSeq	.	52	3	NM_182566	C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354243	0.61293	.	.	ENSG00000182853	ENST00000328739	T	0.45668	0.89	5.0	2.81	0.32909	.	0.226655	0.43747	D	0.000539	T	0.31670	0.0804	L	0.31926	0.97	0.80722	D	1	P	0.46142	0.873	P	0.45474	0.482	T	0.06075	-1.0847	10	0.49607	T	0.09	-19.9223	5.138	0.14945	0.0:0.642:0.1712:0.1867	.	153	Q7Z5L0	VMO1_HUMAN	H	153	ENSP00000328397:Q153H	ENSP00000328397:Q153H	Q	-	3	2	VMO1	4635547	0.997000	0.39634	1.000000	0.80357	0.871000	0.50021	0.574000	0.23714	1.216000	0.43427	0.561000	0.74099	CAG	.		0.637	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566	
GCNT4	51301	hgsc.bcm.edu	37	5	74325091	74325091	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:74325091G>T	ENST00000322348.4	-	1	1633	c.772C>A	c.(772-774)Cca>Aca	p.P258T		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	258					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTACTGTTTGGGGGTTTCACC	0.403																																					p.P258T		.											GCNT4,NS,carcinoma,0,1	GCNT4	0	0			c.C772A						.						86.0	90.0	88.0					5																	74325091		2203	4300	6503	SO:0001583	missense	51301	exon1			TGTTTGGGGGTTT	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.772C>A	5.37:g.74325091G>T	ENSP00000317027:p.Pro258Thr	Somatic	52	0		WXS	Illumina HiSeq	.	47	2	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018650	0.19355	.	.	ENSG00000176928	ENST00000322348	T	0.11821	2.74	5.96	4.0	0.46444	.	0.427108	0.27778	N	0.017886	T	0.10508	0.0257	L	0.39692	1.235	0.26378	N	0.976778	B	0.27823	0.19	B	0.23574	0.047	T	0.16276	-1.0408	10	0.39692	T	0.17	-15.5194	7.213	0.25945	0.0846:0.0:0.453:0.4624	.	258	Q9P109	GCNT4_HUMAN	T	258	ENSP00000317027:P258T	ENSP00000317027:P258T	P	-	1	0	GCNT4	74360847	0.998000	0.40836	0.996000	0.52242	0.953000	0.61014	2.530000	0.45641	1.506000	0.48736	0.650000	0.86243	CCA	.		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
ZXDC	79364	hgsc.bcm.edu	37	3	126160731	126160731	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:126160731G>T	ENST00000389709.3	-	8	2324	c.2271C>A	c.(2269-2271)ttC>ttA	p.F757L		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	757					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGCTTGCATGGAAATGGGGAG	0.527																																					p.F757L		.											ZXDC_ENST00000389709,NS,carcinoma,0,1	ZXDC_ENST00000389709	0	0			c.C2271A						.						67.0	68.0	67.0					3																	126160731		1948	4153	6101	SO:0001583	missense	79364	exon8			TGCATGGAAATGG	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2271C>A	3.37:g.126160731G>T	ENSP00000374359:p.Phe757Leu	Somatic	83	0		WXS	Illumina HiSeq	.	31	2	NM_025112	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	ENST00000389709.3	37	CCDS43145.1	.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787699	0.02884	.	.	ENSG00000070476	ENST00000389709	T	0.09163	3.01	5.08	0.977	0.19733	.	1.886340	0.02459	N	0.086379	T	0.07818	0.0196	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40905	-0.9538	10	0.06365	T	0.9	2.2598	15.1265	0.72486	0.0:0.6303:0.3697:0.0	.	757	Q2QGD7	ZXDC_HUMAN	L	757	ENSP00000374359:F757L	ENSP00000374359:F757L	F	-	3	2	ZXDC	127643421	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.272000	0.08560	-0.123000	0.11745	-0.282000	0.10007	TTC	.		0.527	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112	
USP35	57558	hgsc.bcm.edu	37	11	77921399	77921399	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:77921399T>C	ENST00000529308.1	+	10	2759	c.2498T>C	c.(2497-2499)cTc>cCc	p.L833P	USP35_ENST00000530267.1_Missense_Mutation_p.L401P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.L564P|USP35_ENST00000441408.2_Missense_Mutation_p.L419P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	833	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCCCTGCTGCTCCGCCTGCCA	0.622																																					p.L833P		.											.,2	.	179	0			c.T2498C						.						71.0	78.0	76.0					11																	77921399		2073	4177	6250	SO:0001583	missense	57558	exon10			TGCTGCTCCGCCT	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2498T>C	11.37:g.77921399T>C	ENSP00000431876:p.Leu833Pro	Somatic	21	2		WXS	Illumina HiSeq	.	312	29	NM_020798		Missense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907714	0.72868	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.42	4.42	0.53409	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.51477	D	0.000099	T	0.53029	0.1771	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.64470	-0.6400	10	0.87932	D	0	-33.6924	13.8385	0.63424	0.0:0.0:0.0:1.0	.	833;419	Q9P2H5;E7EWV7	UBP35_HUMAN;.	P	401;833;419;564	ENSP00000435468:L401P;ENSP00000431876:L833P;ENSP00000400825:L419P;ENSP00000434942:L564P	ENSP00000400825:L419P	L	+	2	0	USP35	77599047	1.000000	0.71417	0.992000	0.48379	0.803000	0.45373	5.887000	0.69751	1.859000	0.53934	0.402000	0.26972	CTC	.		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
NBAS	51594	hgsc.bcm.edu	37	2	15378717	15378717	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:15378717C>T	ENST00000281513.5	-	45	5843	c.5818G>A	c.(5818-5820)Gaa>Aaa	p.E1940K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1820K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1940					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTTGAGCTTCGTCTTCTGAG	0.408																																					p.E1940K		.											.	.	.	0			c.G5818A						.						122.0	124.0	123.0					2																	15378717		2203	4300	6503	SO:0001583	missense	51594	exon45			GAGCTTCGTCTTC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5818G>A	2.37:g.15378717C>T	ENSP00000281513:p.Glu1940Lys	Somatic	165	0		WXS	Illumina HiSeq	.	76	3	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	1.847	-0.465926	0.04476	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.41758	3.02;3.19;0.99	5.9	-0.303	0.12792	.	0.868827	0.10756	N	0.637790	T	0.19967	0.0480	N	0.03608	-0.345	0.09310	N	1	D;B	0.54047	0.964;0.036	B;B	0.43018	0.405;0.01	T	0.15521	-1.0434	10	0.87932	D	0	.	7.0331	0.24979	0.0:0.5848:0.1078:0.3074	.	1820;1940	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	K	1820;1940;32	ENSP00000413201:E1820K;ENSP00000281513:E1940K;ENSP00000392421:E32K	ENSP00000281513:E1940K	E	-	1	0	NBAS	15296168	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.170000	0.16663	0.123000	0.18342	0.655000	0.94253	GAA	.		0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
PHACTR1	221692	hgsc.bcm.edu	37	6	13053670	13053670	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:13053670C>T	ENST00000379350.1	+	4	453	c.324C>T	c.(322-324)cgC>cgT	p.R108R	PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000332995.7_Silent_p.R108R|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000457702.2_5'UTR			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	108					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CACCCATCCGCAGGAGAAGTA	0.502																																					p.R108R		.											.	.	.	0			c.C324T						.						47.0	46.0	47.0					6																	13053670		1944	4138	6082	SO:0001819	synonymous_variant	221692	exon5			CATCCGCAGGAGA	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.324C>T	6.37:g.13053670C>T		Somatic	127	0		WXS	Illumina HiSeq	.	100	3	NM_030948	A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	C	9.321	1.058137	0.19987	.	.	ENSG00000112137	ENST00000406205	.	.	.	5.84	-5.21	0.02815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6706	10.752	0.46216	0.275:0.533:0.1919:0.0	.	.	.	.	X	144	.	.	Q	+	1	0	PHACTR1	13161656	0.328000	0.24687	0.831000	0.32960	0.954000	0.61252	-0.240000	0.08952	-1.155000	0.02822	-1.161000	0.01788	CAG	.		0.502	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
CHRM3	1131	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	240072089	240072089	+	Silent	SNP	A	A	C	rs200157577		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:240072089A>C	ENST00000255380.4	+	5	2117	c.1338A>C	c.(1336-1338)tcA>tcC	p.S446S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	446					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCAACTCCTCAGTGGGTAAGA	0.522																																					p.S446S		.											.	.	.	0			c.A1338C						.						60.0	61.0	60.0					1																	240072089		2203	4300	6503	SO:0001819	synonymous_variant	1131	exon5			CTCCTCAGTGGGT	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1338A>C	1.37:g.240072089A>C		Somatic	55	0		WXS	Illumina HiSeq	.	59	20	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	CCDS1616.1																																																																																			.		0.522	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
KDELC2	143888	hgsc.bcm.edu	37	11	108361840	108361840	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:108361840C>T	ENST00000323468.5	-	2	322	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	KDELC2_ENST00000375648.1_Missense_Mutation_p.R30Q|KDELC2_ENST00000434945.2_Missense_Mutation_p.R30Q	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	86						endoplasmic reticulum (GO:0005783)		p.R86Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GACATGTATCCGGACCAACTC	0.378																																					p.R86Q		.											KDELC2,rectum,carcinoma,0,1	KDELC2	0	1	Substitution - Missense(1)	large_intestine(1)	c.G257A						.						85.0	79.0	81.0					11																	108361840		1872	4094	5966	SO:0001583	missense	143888	exon2			TGTATCCGGACCA	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.257G>A	11.37:g.108361840C>T	ENSP00000315386:p.Arg86Gln	Somatic	66	0		WXS	Illumina HiSeq	.	29	2	NM_153705	Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717876	0.68844	.	.	ENSG00000178202	ENST00000323468;ENST00000434945;ENST00000375648	D;T;T	0.84442	-1.85;1.6;1.87	5.34	4.36	0.52297	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051096	0.85682	D	0.000000	D	0.86020	0.5833	M	0.76328	2.33	0.53005	D	0.999968	P;P	0.52842	0.729;0.956	B;P	0.47118	0.337;0.538	D	0.86355	0.1713	10	0.49607	T	0.09	-15.0416	12.0366	0.53429	0.0:0.8671:0.0:0.1329	.	86;30	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	Q	86;30;30	ENSP00000315386:R86Q;ENSP00000413429:R30Q;ENSP00000364799:R30Q	ENSP00000315386:R86Q	R	-	2	0	KDELC2	107867050	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.490000	0.60319	2.785000	0.95823	0.655000	0.94253	CGG	.		0.378	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
TGFBRAP1	9392	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	105897081	105897081	+	Silent	SNP	G	G	A	rs369009120		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:105897081G>A	ENST00000393359.2	-	6	1647	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	TGFBRAP1_ENST00000258449.1_Silent_p.Y407Y			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	407					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCAGGTCTGCGTACTCATGAA	0.597																																					p.Y407Y	Esophageal Squamous(183;794 2019 9730 21801 48859)	.											TGFBRAP1,NS,carcinoma,0,1	TGFBRAP1	0	0			c.C1221T						.	G	,	0,4406		0,0,2203	110.0	99.0	103.0		1221,1221	-6.6	0.9	2		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TGFBRAP1	NM_001142621.1,NM_004257.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	407/861,407/861	105897081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9392	exon6			GTCTGCGTACTCA	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1221C>T	2.37:g.105897081G>A		Somatic	39	0		WXS	Illumina HiSeq	.	20	7	NM_004257	A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	CCDS2067.1																																																																																			.		0.597	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
TAS2R31	259290	hgsc.bcm.edu	37	12	11183296	11183296	+	Silent	SNP	A	A	G	rs370468039		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:11183296A>G	ENST00000390675.2	-	1	710	c.639T>C	c.(637-639)ggT>ggC	p.G213G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	213					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						GAGATCCTTTACCATGGAGCT	0.423																																					p.G213G		.											TAS2R31,NS,carcinoma,0,1	TAS2R31	0	0			c.T639C						.						150.0	155.0	154.0					12																	11183296		2203	4300	6503	SO:0001819	synonymous_variant	259290	exon1			TCCTTTACCATGG	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.639T>C	12.37:g.11183296A>G		Somatic	82	1		WXS	Illumina HiSeq	.	73	3	NM_176885	P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	CCDS53747.1																																																																																			.		0.423	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1	NM_176885	
BICD1	636	hgsc.bcm.edu	37	12	32481467	32481467	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:32481467C>T	ENST00000281474.5	+	5	2181	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	BICD1_ENST00000548411.1_Missense_Mutation_p.A693V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	693	Interacts with RAB6A.				anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACATTGAGGGCGGTGTTGAAA	0.443																																					p.A693V		.											BICD1,colon,carcinoma,0,1	BICD1	0	0			c.C2078T						.						58.0	58.0	58.0					12																	32481467		2203	4300	6503	SO:0001583	missense	636	exon5			TGAGGGCGGTGTT	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2078C>T	12.37:g.32481467C>T	ENSP00000281474:p.Ala693Val	Somatic	36	0		WXS	Illumina HiSeq	.	21	2	NM_001714	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559152	0.27827	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44083	0.93;0.93	5.05	5.05	0.67936	.	0.146454	0.48286	D	0.000193	T	0.36771	0.0979	L	0.53249	1.67	0.80722	D	1	P;P	0.45240	0.621;0.854	B;B	0.31946	0.05;0.138	T	0.39583	-0.9607	10	0.41790	T	0.15	.	18.4173	0.90575	0.0:1.0:0.0:0.0	.	693;693	F8W113;Q96G01	.;BICD1_HUMAN	V	693	ENSP00000446793:A693V;ENSP00000281474:A693V	ENSP00000281474:A693V	A	+	2	0	BICD1	32372734	1.000000	0.71417	0.895000	0.35142	0.234000	0.25298	5.479000	0.66813	2.333000	0.79357	0.655000	0.94253	GCG	.		0.443	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714	
LAIR2	3904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	55019357	55019357	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:55019357G>A	ENST00000301202.2	+	3	444	c.322G>A	c.(322-324)Gga>Aga	p.G108R	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TAAGCCCCCTGGATGGTCTGA	0.547																																					p.G108R		.											.	.	.	0			c.G322A						.						101.0	100.0	100.0					19																	55019357		2203	4300	6503	SO:0001583	missense	3904	exon3			CCCCCTGGATGGT	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.322G>A	19.37:g.55019357G>A	ENSP00000301202:p.Gly108Arg	Somatic	70	0		WXS	Illumina HiSeq	.	49	27	NM_002288	Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	0.145	-1.097754	0.01843	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15372	2.43;2.58	3.55	-7.1	0.01547	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08492	0.0211	N	0.05259	-0.085	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.002;0.007	T	0.25433	-1.0132	9	.	.	.	.	11.7479	0.51830	0.128:0.2247:0.6473:0.0	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	R	108	ENSP00000301202:G108R;ENSP00000301203:G108R	.	G	+	1	0	LAIR2	59711169	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.084000	0.00612	-2.958000	0.00291	-2.222000	0.00295	GGA	.		0.547	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1		
NPVF	64111	hgsc.bcm.edu	37	7	25266573	25266573	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:25266573T>C	ENST00000222674.2	-	2	257	c.211A>G	c.(211-213)Att>Gtt	p.I71V		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	71					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCATCTTAATAACATTTTTT	0.393																																					p.I71V		.											NPVF,NS,carcinoma,+2,9	NPVF	+2	0			c.A211G						.						129.0	135.0	133.0					7																	25266573		2203	4300	6503	SO:0001583	missense	64111	exon2			TCTTAATAACATT	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.211A>G	7.37:g.25266573T>C	ENSP00000222674:p.Ile71Val	Somatic	101	1		WXS	Illumina HiSeq	.	50	3	NM_022150	A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	ENST00000222674.2	37	CCDS5395.1	.	.	.	.	.	.	.	.	.	.	T	9.063	0.994869	0.19043	.	.	ENSG00000105954	ENST00000222674	T	0.26810	1.71	5.55	1.46	0.22682	.	1.297180	0.04883	N	0.448070	T	0.26484	0.0647	L	0.60455	1.87	0.09310	N	1	B	0.33171	0.4	B	0.30855	0.121	T	0.28522	-1.0041	10	0.30854	T	0.27	-13.3194	8.7071	0.34360	0.1175:0.0:0.3648:0.5178	.	71	Q9HCQ7	RFRP_HUMAN	V	71	ENSP00000222674:I71V	ENSP00000222674:I71V	I	-	1	0	NPVF	25233098	0.211000	0.23529	0.003000	0.11579	0.940000	0.58332	0.330000	0.19715	0.433000	0.26313	0.533000	0.62120	ATT	.		0.393	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250315.1	NM_022150	
TRIM55	84675	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	67039583	67039583	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:67039583C>T	ENST00000315962.4	+	1	453	c.80C>T	c.(79-81)cCc>cTc	p.P27L	TRIM55_ENST00000353317.5_Missense_Mutation_p.P27L|TRIM55_ENST00000350034.4_Missense_Mutation_p.P27L|TRIM55_ENST00000276573.7_Missense_Mutation_p.P27L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	27					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTCATCTGTCCCATCTGCTTA	0.448																																					p.P27L		.											.	.	.	0			c.C80T						.						197.0	194.0	195.0					8																	67039583		2203	4300	6503	SO:0001583	missense	84675	exon1			TCTGTCCCATCTG	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.80C>T	8.37:g.67039583C>T	ENSP00000323913:p.Pro27Leu	Somatic	49	0		WXS	Illumina HiSeq	.	53	18	NM_184086	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094428	0.94149	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.53	5.53	0.82687	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.38457	-0.9660	10	0.87932	D	0	.	19.4485	0.94857	0.0:1.0:0.0:0.0	.	27;27;27;27	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	L	27	ENSP00000323913:P27L;ENSP00000297348:P27L;ENSP00000276573:P27L;ENSP00000332302:P27L	ENSP00000276573:P27L	P	+	2	0	TRIM55	67202137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.583000	0.87209	0.655000	0.94253	CCC	.		0.448	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
GPR31	2853	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	167570387	167570387	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:167570387A>C	ENST00000366834.1	-	1	1430	c.933T>G	c.(931-933)gaT>gaG	p.D311E		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	311					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGGGGTTGAAATCTGGGGGCT	0.547																																					p.D311E		.											.	.	.	0			c.T933G						.						51.0	57.0	55.0					6																	167570387		2203	4300	6503	SO:0001583	missense	2853	exon1			GTTGAAATCTGGG	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.933T>G	6.37:g.167570387A>C	ENSP00000355799:p.Asp311Glu	Somatic	50	0		WXS	Illumina HiSeq	.	21	16	NM_005299	B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	A	9.461	1.093196	0.20471	.	.	ENSG00000120436	ENST00000366834	T	0.59638	0.25	3.54	-3.68	0.04463	.	1.477200	0.04816	U	0.436094	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.05566	-1.0877	10	0.02654	T	1	-5.5216	4.9499	0.14009	0.4501:0.1595:0.3904:0.0	.	311	O00270	GPR31_HUMAN	E	311	ENSP00000355799:D311E	ENSP00000355799:D311E	D	-	3	2	GPR31	167490377	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.189000	0.09629	-0.986000	0.03498	0.260000	0.18958	GAT	.		0.547	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299	
MED13L	23389	hgsc.bcm.edu	37	12	116399131	116399131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:116399131G>T	ENST00000281928.3	-	31	6779	c.6573C>A	c.(6571-6573)tgC>tgA	p.C2191*	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2191						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGACGGGAAGGCAGGAAGTAC	0.507																																					p.C2191X		.											.	.	.	0			c.C6573A						.						133.0	119.0	124.0					12																	116399131		2203	4300	6503	SO:0001587	stop_gained	23389	exon31			GGGAAGGCAGGAA	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6573C>A	12.37:g.116399131G>T	ENSP00000281928:p.Cys2191*	Somatic	69	0		WXS	Illumina HiSeq	.	50	4	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Nonsense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	49	15.745885	0.99844	.	.	ENSG00000123066	ENST00000281928	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3594	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	X	2191	.	ENSP00000281928:C2191X	C	-	3	2	MED13L	114883514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	2.816000	0.96949	0.563000	0.77884	TGC	.		0.507	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
DOCK11	139818	hgsc.bcm.edu	37	X	117777438	117777438	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chrX:117777438G>T	ENST00000276202.7	+	40	4342	c.4279G>T	c.(4279-4281)Gat>Tat	p.D1427Y	DOCK11_ENST00000276204.6_Missense_Mutation_p.D1427Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1427					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTTAAATAATGATGGCCATAA	0.328																																					p.D1427Y		.											.	.	.	0			c.G4279T						.						136.0	142.0	140.0					X																	117777438		2203	4300	6503	SO:0001583	missense	139818	exon40			AATAATGATGGCC	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4279G>T	X.37:g.117777438G>T	ENSP00000276202:p.Asp1427Tyr	Somatic	231	0		WXS	Illumina HiSeq	.	97	4	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233552	0.39498	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.59906	0.23;0.23	5.22	5.22	0.72569	.	0.099061	0.64402	D	0.000002	T	0.61578	0.2358	M	0.74881	2.28	0.48185	D	0.999602	B;B	0.20780	0.048;0.024	B;B	0.22152	0.038;0.038	T	0.61078	-0.7135	10	0.46703	T	0.11	-10.8588	18.1307	0.89600	0.0:0.0:1.0:0.0	.	1427;1427	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Y	1427	ENSP00000276204:D1427Y;ENSP00000276202:D1427Y	ENSP00000276202:D1427Y	D	+	1	0	DOCK11	117661466	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.347000	0.52200	2.304000	0.77564	0.600000	0.82982	GAT	.		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
ZNF831	128611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57769548	57769548	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T1158T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672																																					p.T1158T		.											ZNF831,NS,carcinoma,0,1	ZNF831	0	1	Substitution - coding silent(1)	prostate(1)	c.G3474A						.						44.0	51.0	48.0					20																	57769548		2038	4178	6216	SO:0001819	synonymous_variant	128611	exon1			AGGGACGTCCCGG	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3474G>A	20.37:g.57769548G>A		Somatic	47	0		WXS	Illumina HiSeq	.	33	14	NM_178457	Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	CCDS42894.1																																																																																			.		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
FKBP9P1	360132	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55750187	55750187	+	RNA	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:55750187A>G	ENST00000455909.1	-	0	1030					NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						CCCATATATCAACCCACCCCG	0.493																																					.		.											.	.	.	0			.						.																																					360132	.			TATATCAACCCAC																													7.37:g.55750187A>G		Somatic	32	0		WXS	Illumina HiSeq	.	28	13	.	B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																				.		0.493	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2		
CUZD1	50624	hgsc.bcm.edu	37	10	124595891	124595891	+	Intron	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:124595891G>A	ENST00000368904.1	-	8	1767				CUZD1_ENST00000545804.1_Intron|CUZD1_ENST00000392790.1_Intron					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAAAAAAAAGAATGGTCATG	0.343																																					.		.											.	.	.	0			.						.						24.0	24.0	24.0					10																	124595891		2203	4298	6501	SO:0001627	intron_variant	0	.			AAAAAAGAATGGT	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.818-25C>T	10.37:g.124595891G>A		Somatic	48	0		WXS	Illumina HiSeq	.	47	4	.		RNA	SNP	ENST00000368904.1	37	CCDS7631.1																																																																																			.		0.343	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
UBASH3A	53347	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	43857670	43857670	+	Missense_Mutation	SNP	C	C	T	rs201756769		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr21:43857670C>T	ENST00000319294.6	+	11	1497	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	UBASH3A_ENST00000291535.6_Missense_Mutation_p.T451M|UBASH3A_ENST00000398367.1_Missense_Mutation_p.T451M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	489	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGTGTGCAGACGGCCAAACTC	0.552																																					p.T489M		.											.	.	.	0			c.C1466T						.	C	MET/THR,MET/THR	0,4406		0,0,2203	110.0	99.0	103.0		1352,1466	4.2	0.9	21		103	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	UBASH3A	NM_001001895.2,NM_018961.3	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	451/624,489/662	43857670	2,13004	2203	4300	6503	SO:0001583	missense	53347	exon11			TGCAGACGGCCAA	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1466C>T	21.37:g.43857670C>T	ENSP00000317327:p.Thr489Met	Somatic	45	0		WXS	Illumina HiSeq	.	35	17	NM_018961	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228919	0.58777	0.0	2.33E-4	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;D	0.88818	-0.79;-0.79;-2.43	4.25	4.25	0.50352	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.56097	D	0.000037	D	0.96122	0.8736	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.977;0.977;0.99	D	0.97282	0.9918	10	0.87932	D	0	-19.7568	13.5937	0.61975	0.0:1.0:0.0:0.0	.	451;451;489	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	451;489;451	ENSP00000291535:T451M;ENSP00000317327:T489M;ENSP00000381408:T451M	ENSP00000291535:T451M	T	+	2	0	UBASH3A	42730739	0.998000	0.40836	0.921000	0.36526	0.653000	0.38743	4.617000	0.61204	1.919000	0.55581	0.514000	0.50259	ACG	0.001		0.552	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
MOXD1	26002	hgsc.bcm.edu	37	6	132645229	132645229	+	Silent	SNP	T	T	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:132645229T>A	ENST00000367963.3	-	7	1072	c.954A>T	c.(952-954)atA>atT	p.I318I	MOXD1_ENST00000336749.3_Silent_p.I250I|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348																																					p.I318I		.											MOXD1_ENST00000336749,NS,carcinoma,0,2	MOXD1_ENST00000336749	0	0			c.A954T						.						86.0	88.0	87.0					6																	132645229		2203	4300	6503	SO:0001819	synonymous_variant	26002	exon7			ATTATCTATTAAG	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.954A>T	6.37:g.132645229T>A		Somatic	54	0		WXS	Illumina HiSeq	.	24	2	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	CCDS5152.2																																																																																			.		0.348	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
TCHH	7062	hgsc.bcm.edu	37	1	152082269	152082269	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:152082269C>T	ENST00000368804.1	-	2	3423	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1142	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcttcctcccgatattgc	0.602																																					p.E1142K		.											TCHH,NS,malignant_melanoma,0,1	TCHH	0	0			c.G3424A						.						88.0	86.0	87.0					1																	152082269		1995	4159	6154	SO:0001583	missense	7062	exon3			CTTCCTCCCGATA	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3424G>A	1.37:g.152082269C>T	ENSP00000357794:p.Glu1142Lys	Somatic	55	0		WXS	Illumina HiSeq	.	74	3	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334416	0.24253	.	.	ENSG00000159450	ENST00000368804	T	0.05786	3.39	2.89	1.94	0.25998	.	.	.	.	.	T	0.01489	0.0048	N	0.24115	0.695	0.09310	N	1	P	0.47762	0.9	B	0.37989	0.262	T	0.48445	-0.9035	9	0.46703	T	0.11	.	9.5203	0.39131	0.0:0.7829:0.2171:0.0	.	1142	Q07283	TRHY_HUMAN	K	1142	ENSP00000357794:E1142K	ENSP00000357794:E1142K	E	-	1	0	TCHH	150348893	0.001000	0.12720	0.001000	0.08648	0.229000	0.25112	0.771000	0.26633	0.375000	0.24679	0.455000	0.32223	GAG	.		0.602	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
ALMS1	7840	hgsc.bcm.edu	37	2	73800387	73800387	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:73800387G>T	ENST00000264448.6	+	16	11491	c.11380G>T	c.(11380-11382)Ggc>Tgc	p.G3794C	ALMS1_ENST00000409009.1_Missense_Mutation_p.G3752C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3794					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.G3794>?(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAGCTTTTGGCCATGAAAG	0.453																																					p.G3794C		.											.,1	.	384	1	Complex(1)	lung(1)	c.G11380T						.						105.0	104.0	105.0					2																	73800387		1980	4163	6143	SO:0001583	missense	7840	exon16			GCTTTTGGCCATG	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11380G>T	2.37:g.73800387G>T	ENSP00000264448:p.Gly3794Cys	Somatic	54	0		WXS	Illumina HiSeq	.	45	2	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513451	0.64522	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.26810	1.72;1.71	4.79	4.79	0.61399	.	0.000000	0.47455	D	0.000234	T	0.45115	0.1326	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.38693	-0.9649	10	0.87932	D	0	.	16.143	0.81539	0.0:0.0:1.0:0.0	.	3794;3752;3794	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	C	3752;3794	ENSP00000386627:G3752C;ENSP00000264448:G3794C	ENSP00000264448:G3794C	G	+	1	0	ALMS1	73653895	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.603000	0.74145	2.610000	0.88304	0.655000	0.94253	GGC	.		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
HS3ST1	9957	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	11401504	11401504	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:11401504G>A	ENST00000002596.5	-	2	1300	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	42					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCACGCCATCGCGGACGTCAT	0.692																																					p.R42R		.											.	.	.	0			c.C126T						.						23.0	22.0	22.0					4																	11401504		2200	4294	6494	SO:0001819	synonymous_variant	9957	exon2			GCCATCGCGGACG	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.126C>T	4.37:g.11401504G>A		Somatic	33	0		WXS	Illumina HiSeq	.	24	10	NM_005114	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	CCDS3408.1																																																																																			.		0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
BTN2A3P	54718	hgsc.bcm.edu	37	6	26422390	26422390	+	RNA	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:26422390T>C	ENST00000466808.2	+	0	44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											CCAGCCTCCCTCCTCCTCCTC	0.582																																					.		.											.	.	.	0			.						.						164.0	127.0	139.0					6																	26422390		2203	4300	6503			54718	.			CCTCCCTCCTCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422390T>C		Somatic	66	0		WXS	Illumina HiSeq	.	63	4	.	A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																				.		0.582	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795	
DTHD1	401124	hgsc.bcm.edu	37	4	36309926	36309926	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:36309926G>A	ENST00000456874.2	+	6	1589	c.1531G>A	c.(1531-1533)Gta>Ata	p.V511I	RP11-431M7.2_ENST00000504344.1_RNA|DTHD1_ENST00000357504.3_Missense_Mutation_p.V346I|DTHD1_ENST00000507598.1_Missense_Mutation_p.V551I	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1	511					signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						TGCCTGCATAGTACTGTCTCA	0.438																																					p.V511I		.											DTHD1_ENST00000456874,NS,carcinoma,0,2	DTHD1_ENST00000456874	0	0			c.G1531A						.						128.0	103.0	110.0					4																	36309926		692	1591	2283	SO:0001583	missense	401124	exon6			TGCATAGTACTGT	AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.1531G>A	4.37:g.36309926G>A	ENSP00000401597:p.Val511Ile	Somatic	101	0		WXS	Illumina HiSeq	.	61	3	NM_001170700	B2RXK4|B4E2N7	Missense_Mutation	SNP	ENST00000456874.2	37	CCDS54754.1	.	.	.	.	.	.	.	.	.	.	G	0.801	-0.755339	0.03019	.	.	ENSG00000197057	ENST00000357504;ENST00000507598;ENST00000456874	T;T;T	0.25579	1.79;2.06;2.07	4.8	3.08	0.35506	.	0.250374	0.39909	N	0.001234	T	0.14098	0.0341	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.16722	0.016	T	0.33599	-0.9862	10	0.06236	T	0.91	-6.0306	7.8095	0.29221	0.3407:0.0:0.6593:0.0	.	346	Q6ZMT9-2	.	I	346;551;511	ENSP00000350103:V346I;ENSP00000424426:V551I;ENSP00000401597:V511I	ENSP00000350103:V346I	V	+	1	0	DTHD1	35986321	0.827000	0.29292	0.009000	0.14445	0.075000	0.17131	1.373000	0.34272	0.763000	0.33175	0.655000	0.94253	GTA	.		0.438	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001136536	
VRK3	51231	hgsc.bcm.edu	37	19	50519394	50519394	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:50519394C>T	ENST00000599538.1	-	3	690	c.26G>A	c.(25-27)gGc>gAc	p.G9D	VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.G9D|VRK3_ENST00000594092.1_Missense_Mutation_p.G9D|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.G9D|VRK3_ENST00000601341.1_Missense_Mutation_p.G9D|VRK3_ENST00000316763.3_Missense_Mutation_p.G9D|VRK3_ENST00000377011.2_Missense_Mutation_p.G9D|VRK3_ENST00000601912.1_Missense_Mutation_p.G9D			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	9					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GATACTTTTGCCACAGTCTGG	0.463																																					p.G9D	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	.											VRK3,NS,carcinoma,0,1	VRK3	0	0			c.G26A						.						93.0	89.0	90.0					19																	50519394		2203	4300	6503	SO:0001583	missense	51231	exon3			CTTTTGCCACAGT	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.26G>A	19.37:g.50519394C>T	ENSP00000469880:p.Gly9Asp	Somatic	62	0		WXS	Illumina HiSeq	.	45	2	NM_016440	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988602	0.74589	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.54479	0.91;0.57	4.52	4.52	0.55395	.	0.104827	0.64402	D	0.000005	T	0.79879	0.4522	H	0.96015	3.755	0.43724	D	0.996209	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.997;0.991;0.998;0.998	D	0.84785	0.0775	10	0.66056	D	0.02	-27.0638	13.0397	0.58891	0.0:1.0:0.0:0.0	.	9;9;9;9;9	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	D	9	ENSP00000324636:G9D;ENSP00000366210:G9D	ENSP00000324636:G9D	G	-	2	0	VRK3	55211206	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.812000	0.47994	2.792000	0.96026	0.650000	0.86243	GGC	.		0.463	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	
DNAH9	1770	hgsc.bcm.edu;bcgsc.ca	37	17	11774974	11774974	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:11774974G>T	ENST00000262442.4	+	52	10181	c.10113G>T	c.(10111-10113)caG>caT	p.Q3371H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3371H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3371					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTTCAAACAGCAGGAAAGGA	0.478																																					p.Q3371H		.											.	.	.	0			c.G10113T						.						153.0	145.0	148.0					17																	11774974		2203	4300	6503	SO:0001583	missense	1770	exon52			CAAACAGCAGGAA	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10113G>T	17.37:g.11774974G>T	ENSP00000262442:p.Gln3371His	Somatic	86	0		WXS	Illumina HiSeq	.	70	4	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009636	0.35415	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75050	-0.9;-0.9	4.82	-1.09	0.09904	Dynein heavy chain, coiled coil stalk (1);	0.131519	0.52532	D	0.000074	T	0.60418	0.2267	L	0.39020	1.185	0.80722	D	1	B	0.11235	0.004	B	0.18263	0.021	T	0.46693	-0.9173	10	0.38643	T	0.18	.	10.5477	0.45070	0.2749:0.0:0.7251:0.0	.	3371	Q9NYC9	DYH9_HUMAN	H	3371;3371;1953	ENSP00000262442:Q3371H;ENSP00000414874:Q3371H	ENSP00000262442:Q3371H	Q	+	3	2	DNAH9	11715699	0.006000	0.16342	0.965000	0.40720	0.898000	0.52572	-0.184000	0.09698	-0.229000	0.09854	0.643000	0.83706	CAG	.		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
NCOA3	8202	hgsc.bcm.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																					p.Q1253Q		.											NCOA3,NS,carcinoma,0,3	NCOA3	0	0			c.G3759A						.						46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAACAG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A		Somatic	47	0		WXS	Illumina HiSeq	.	34	2	NM_181659	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																			.		0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
BNC2	54796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	16419547	16419547	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:16419547C>T	ENST00000380672.4	-	7	2797	c.2740G>A	c.(2740-2742)Gat>Aat	p.D914N	BNC2_ENST00000380667.2_Missense_Mutation_p.D847N|BNC2_ENST00000545497.1_Missense_Mutation_p.D819N	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAAAATTCATCGCGGAGGTCC	0.542																																					p.D914N		.											BNC2,NS,carcinoma,0,1	BNC2	0	0			c.G2740A						.						87.0	93.0	91.0					9																	16419547		2203	4300	6503	SO:0001583	missense	54796	exon7			ATTCATCGCGGAG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2740G>A	9.37:g.16419547C>T	ENSP00000370047:p.Asp914Asn	Somatic	83	0		WXS	Illumina HiSeq	.	28	25	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501312	0.44455	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.32023	1.47;1.48;1.48	5.5	5.5	0.81552	.	0.049731	0.85682	D	0.000000	T	0.19685	0.0473	N	0.25647	0.755	0.80722	D	1	P;P;P	0.50443	0.935;0.892;0.892	B;B;B	0.33339	0.162;0.105;0.105	T	0.05886	-1.0858	10	0.17832	T	0.49	-16.314	19.3932	0.94594	0.0:1.0:0.0:0.0	.	819;914;679	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	N	914;847;819	ENSP00000370047:D914N;ENSP00000370042:D847N;ENSP00000444640:D819N	ENSP00000370042:D847N	D	-	1	0	BNC2	16409547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.037000	0.70956	2.586000	0.87340	0.591000	0.81541	GAT	.		0.542	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
NEIL3	55247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	178256872	178256872	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:178256872G>A	ENST00000264596.3	+	3	427	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	103					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GCTTCATCATGATTAATCCAC	0.333								Base excision repair (BER), DNA glycosylases																													p.M103I		.											.	.	.	0			c.G309A						.						61.0	68.0	66.0					4																	178256872		2199	4299	6498	SO:0001583	missense	55247	exon3			CATCATGATTAAT	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.309G>A	4.37:g.178256872G>A	ENSP00000264596:p.Met103Ile	Somatic	189	0		WXS	Illumina HiSeq	.	141	68	NM_018248	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	5.873	0.345147	0.11126	.	.	ENSG00000109674	ENST00000264596	T	0.28255	1.62	5.14	3.38	0.38709	DNA glycosylase/AP lyase, catalytic domain (2);	0.896359	0.09856	N	0.746875	T	0.12433	0.0302	N	0.02011	-0.69	0.23076	N	0.998336	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.21540	T	0.41	0.3662	9.1384	0.36888	0.0795:0.2976:0.623:0.0	.	103	Q8TAT5	NEIL3_HUMAN	I	103	ENSP00000264596:M103I	ENSP00000264596:M103I	M	+	3	0	NEIL3	178493866	0.103000	0.21917	0.938000	0.37757	0.839000	0.47603	0.360000	0.20250	0.717000	0.32145	0.561000	0.74099	ATG	.		0.333	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248	
ENPP2	5168	hgsc.bcm.edu;bcgsc.ca	37	8	120602791	120602791	+	Silent	SNP	A	A	G	rs372866542		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:120602791A>G	ENST00000075322.6	-	13	1219	c.1161T>C	c.(1159-1161)ccT>ccC	p.P387P	ENPP2_ENST00000522167.1_Silent_p.P26P|ENPP2_ENST00000427067.2_Silent_p.P383P|ENPP2_ENST00000259486.6_Silent_p.P439P|ENPP2_ENST00000522826.1_Silent_p.P387P	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	387					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAGAGTTCCAGGCACTAAAG	0.348																																					p.P439P	Melanoma(20;305 879 2501 4818 31020)	.											.	.	.	0			c.T1317C						.						98.0	97.0	97.0					8																	120602791		2203	4300	6503	SO:0001819	synonymous_variant	5168	exon14			AGTTCCAGGCACT	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1161T>C	8.37:g.120602791A>G		Somatic	93	0		WXS	Illumina HiSeq	.	71	4	NM_006209	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	CCDS34936.1																																																																																			.		0.348	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1		
HAS1	3036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	52222503	52222503	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:52222503A>G	ENST00000222115.1	-	2	692	c.658T>C	c.(658-660)Tac>Cac	p.Y220H	HAS1_ENST00000540069.2_Missense_Mutation_p.Y219H|HAS1_ENST00000594621.1_Missense_Mutation_p.Y74H|HAS1_ENST00000601714.1_Missense_Mutation_p.Y227H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	220					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGGCTGTGTACATGACCTCG	0.657																																					p.Y220H	NSCLC(132;636 2450 45807 47979)	.											.	.	.	0			c.T658C						.						45.0	40.0	42.0					19																	52222503		2203	4298	6501	SO:0001583	missense	3036	exon2			CTGTGTACATGAC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.658T>C	19.37:g.52222503A>G	ENSP00000222115:p.Tyr220His	Somatic	21	0		WXS	Illumina HiSeq	.	24	13	NM_001523	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.324986	0.81580	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59083	0.29;0.29	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.73853	0.3640	M	0.79011	2.435	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77127	-0.2702	10	0.87932	D	0	-20.8607	10.9911	0.47549	1.0:0.0:0.0:0.0	.	219;220;219	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	219;220;74;74	ENSP00000445021:Y219H;ENSP00000222115:Y220H	ENSP00000222115:Y220H	Y	-	1	0	HAS1	56914315	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.910000	0.92685	1.531000	0.49152	0.346000	0.21813	TAC	.		0.657	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
ELL2	22936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	95242375	95242375	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:95242375C>A	ENST00000237853.4	-	5	942	c.593G>T	c.(592-594)aGc>aTc	p.S198I	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	198					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GATGGTGCTGCTGCTATGTGT	0.483																																					p.S198I		.											.	.	.	0			c.G593T						.						187.0	171.0	177.0					5																	95242375		2203	4300	6503	SO:0001583	missense	22936	exon5			GTGCTGCTGCTAT	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.593G>T	5.37:g.95242375C>A	ENSP00000237853:p.Ser198Ile	Somatic	74	0		WXS	Illumina HiSeq	.	49	25	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747513	0.49257	.	.	ENSG00000118985	ENST00000237853	T	0.31769	1.48	5.83	4.79	0.61399	.	0.456123	0.23084	N	0.052119	T	0.28300	0.0699	N	0.14661	0.345	0.80722	D	1	P	0.42203	0.773	P	0.51742	0.678	T	0.01771	-1.1277	10	0.38643	T	0.18	1.9712	10.7707	0.46321	0.0:0.8577:0.0:0.1423	.	198	O00472	ELL2_HUMAN	I	198	ENSP00000237853:S198I	ENSP00000237853:S198I	S	-	2	0	ELL2	95268131	0.875000	0.30112	0.996000	0.52242	0.667000	0.39255	1.090000	0.30902	2.758000	0.94735	0.591000	0.81541	AGC	.		0.483	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
PODN	127435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	53535704	53535704	+	Silent	SNP	C	C	T	rs143779530		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:53535704C>T	ENST00000312553.5	+	2	328	c.321C>T	c.(319-321)ccC>ccT	p.P107P	PODN_ENST00000371500.3_Silent_p.P88P|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.P107P	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	59					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGAGGAGCCCGGGCCTGGCC	0.687																																					p.P107P		.											.	.	.	0			c.C321T						.	C	,,,	0,4406		0,0,2203	25.0	30.0	29.0		264,264,321,321	-8.4	0.0	1	dbSNP_134	29	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PODN	NM_001199080.1,NM_001199081.1,NM_001199082.1,NM_153703.4	,,,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	,,,	88/643,88/643,107/520,107/662	53535704	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	127435	exon2			GGAGCCCGGGCCT	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.321C>T	1.37:g.53535704C>T		Somatic	102	0		WXS	Illumina HiSeq	.	81	44	NM_153703	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	ENST00000312553.5	37	CCDS573.1																																																																																			0.000		0.687	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703	
COQ9	57017	hgsc.bcm.edu	37	16	57486813	57486813	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr16:57486813G>T	ENST00000262507.6	+	3	412	c.343G>T	c.(343-345)Ggg>Tgg	p.G115W	COQ9_ENST00000567072.1_Missense_Mutation_p.G115W|COQ9_ENST00000567933.1_Missense_Mutation_p.G115W	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	115					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)		p.G115W(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						GCCCGCCCACGGGTGGACAGC	0.602																																					p.G115W		.											COQ9,NS,carcinoma,0,1	COQ9	0	1	Substitution - Missense(1)	lung(1)	c.G343T						.						97.0	86.0	90.0					16																	57486813		2198	4300	6498	SO:0001583	missense	57017	exon3			GCCCACGGGTGGA	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.343G>T	16.37:g.57486813G>T	ENSP00000262507:p.Gly115Trp	Somatic	29	0		WXS	Illumina HiSeq	.	33	2	NM_020312	A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560568	0.86335	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.92317	3.295	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89808	0.3980	9	0.87932	D	0	-17.7377	17.3209	0.87235	0.0:0.0:1.0:0.0	.	115;115;115;115;115	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	W	115	.	ENSP00000262507:G115W	G	+	1	0	COQ9	56044314	1.000000	0.71417	0.947000	0.38551	0.801000	0.45260	7.974000	0.88039	2.325000	0.78763	0.650000	0.86243	GGG	.		0.602	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312	
EAF2	55840	hgsc.bcm.edu	37	3	121575996	121575996	+	Silent	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:121575996C>A	ENST00000273668.2	+	4	548	c.477C>A	c.(475-477)atC>atA	p.I159I	EAF2_ENST00000451944.2_Silent_p.I159I	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	159					apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.I159I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TAGATGATATCGAAAGAGGTA	0.393																																					p.I159I	Esophageal Squamous(194;1942 2097 24663 29345 31866)	.											EAF2,colon,carcinoma,0,1	EAF2	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C477A						.						84.0	80.0	81.0					3																	121575996		2203	4300	6503	SO:0001819	synonymous_variant	55840	exon4			TGATATCGAAAGA	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.477C>A	3.37:g.121575996C>A		Somatic	79	0		WXS	Illumina HiSeq	.	37	2	NM_018456	Q9NZ82	Silent	SNP	ENST00000273668.2	37	CCDS3006.1																																																																																			.		0.393	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456	
LRRCC1	85444	hgsc.bcm.edu	37	8	86022348	86022348	+	Splice_Site	SNP	A	A	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:86022348A>T	ENST00000360375.3	+	3	459		c.e3-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(4)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ttttttttttaGGACTTGAAG	0.244																																					.		.											LRRCC1_ENST00000414626,NS,carcinoma,0,2	LRRCC1_ENST00000414626	0	4	Unknown(4)	kidney(4)	c.311-2A>T						.						53.0	48.0	49.0					8																	86022348		1779	4047	5826	SO:0001630	splice_region_variant	85444	exon3			TTTTTTAGGACTT	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.311-1A>T	8.37:g.86022348A>T		Somatic	33	0		WXS	Illumina HiSeq	.	42	2	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	37	CCDS43750.1																																																																																			.		0.244	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron
ZNF223	7766	hgsc.bcm.edu	37	19	44564661	44564661	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:44564661G>T	ENST00000434772.3	+	3	324	c.69G>T	c.(67-69)ggG>ggT	p.G23G	ZNF223_ENST00000585552.1_Silent_p.G23G|ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000591793.1_Silent_p.G133G	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	23	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGGAGCTGGGGCTGCTGGACC	0.517																																					p.G23G		.											.	.	.	0			c.G69T						.						243.0	216.0	225.0					19																	44564661		2203	4300	6503	SO:0001819	synonymous_variant	7766	exon3			GCTGGGGCTGCTG	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.69G>T	19.37:g.44564661G>T		Somatic	92	0		WXS	Illumina HiSeq	.	94	4	NM_013361	Q15736|Q8TBJ3|Q9HCA9	Silent	SNP	ENST00000434772.3	37	CCDS12635.1																																																																																			.		0.517	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2		
DMXL1	1657	hgsc.bcm.edu	37	5	118485955	118485955	+	Missense_Mutation	SNP	C	C	A	rs376786107		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:118485955C>A	ENST00000311085.8	+	18	4513	c.4433C>A	c.(4432-4434)cCg>cAg	p.P1478Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.P1478Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1478										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGTACAGTCCGACTTACTTT	0.428																																					p.P1478Q		.											DMXL1,NS,carcinoma,0,1	DMXL1	0	0			c.C4433A						.						128.0	125.0	126.0					5																	118485955		2202	4300	6502	SO:0001583	missense	1657	exon18			ACAGTCCGACTTA	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4433C>A	5.37:g.118485955C>A	ENSP00000309690:p.Pro1478Gln	Somatic	65	0		WXS	Illumina HiSeq	.	34	2	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559204	0.65538	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.40476	1.03;1.03	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.71347	-0.4620	10	0.52906	T	0.07	-15.2311	19.5764	0.95446	0.0:1.0:0.0:0.0	.	1478;1478	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	1478	ENSP00000309690:P1478Q;ENSP00000439479:P1478Q	ENSP00000309690:P1478Q	P	+	2	0	DMXL1	118513854	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.705000	0.92388	0.557000	0.71058	CCG	.		0.428	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
CHRM2	1129	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	136699781	136699781	+	Missense_Mutation	SNP	G	G	A	rs143842239		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:136699781G>A	ENST00000445907.2	+	3	697	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.V57I|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.V57I|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V57I|CHRM2_ENST00000402486.3_Missense_Mutation_p.V57I|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V57I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	57					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCCAGACCGTCAACAATTA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		19513	0.0		0.001	False		,,,				2504	0.0				p.V57I		.											CHRM2,NS,adenocarcinoma,0,2	CHRM2	0	0			c.G169A						.	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	208.0	174.0	186.0		169,169,169,169,169,169,169,169	5.3	1.0	7	dbSNP_134	186	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	CHRM2	NM_000739.2,NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1,NM_001006630.1,NM_001006631.1,NM_001006632.1	29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	57/467,57/467,57/467,57/467,57/467,57/467,57/467,57/467	136699781	1,13005	2203	4300	6503	SO:0001583	missense	1129	exon3			CAGACCGTCAACA		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.169G>A	7.37:g.136699781G>A	ENSP00000399745:p.Val57Ile	Somatic	65	0		WXS	Illumina HiSeq	.	32	9	NM_001006632	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073559	0.76415	2.27E-4	0.0	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.35624	0.0938	L	0.59912	1.85	0.80722	D	1	D	0.60575	0.988	P	0.51895	0.683	T	0.05869	-1.0859	10	0.51188	T	0.08	-3.034	19.0529	0.93053	0.0:0.0:1.0:0.0	.	57	P08172	ACM2_HUMAN	I	57	ENSP00000399745:V57I;ENSP00000415386:V57I;ENSP00000319984:V57I;ENSP00000380733:V57I;ENSP00000384937:V57I;ENSP00000384401:V57I	ENSP00000319984:V57I	V	+	1	0	CHRM2	136350321	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	9.766000	0.98957	2.502000	0.84385	0.585000	0.79938	GTC	0.000		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
NCOA2	10499	hgsc.bcm.edu	37	8	71068239	71068239	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:71068239C>T	ENST00000452400.2	-	11	2542	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	787					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TCTCCTCCTTCTCAGTTTTCA	0.413			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.E787E		.		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	NCOA2,NS,carcinoma,0,1	NCOA2	0	0			c.G2361A						.						63.0	65.0	64.0					8																	71068239		1878	4113	5991	SO:0001819	synonymous_variant	10499	exon11			CTCCTTCTCAGTT	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2361G>A	8.37:g.71068239C>T		Somatic	54	0		WXS	Illumina HiSeq	.	47	2	NM_006540	Q14CD2	Silent	SNP	ENST00000452400.2	37	CCDS47872.1																																																																																			.		0.413	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
ZAR1	326340	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	48494818	48494818	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:48494818G>T	ENST00000327939.4	+	2	1039	c.999G>T	c.(997-999)aaG>aaT	p.K333N		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	333					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						ACCACTGCAAGGACTGCAACA	0.418																																					p.K333N		.											.	.	.	0			c.G999T						.						215.0	213.0	214.0					4																	48494818		2203	4300	6503	SO:0001583	missense	326340	exon2			CTGCAAGGACTGC	AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.999G>T	4.37:g.48494818G>T	ENSP00000329803:p.Lys333Asn	Somatic	66	0		WXS	Illumina HiSeq	.	61	4	NM_175619		Missense_Mutation	SNP	ENST00000327939.4	37	CCDS3483.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512261	0.64522	.	.	ENSG00000182223	ENST00000327939	T	0.24151	1.87	5.71	2.62	0.31277	.	0.059791	0.64402	D	0.000004	T	0.45657	0.1353	M	0.68317	2.08	0.42796	D	0.993913	D	0.89917	1.0	D	0.79784	0.993	T	0.45366	-0.9266	10	0.87932	D	0	-14.4816	11.0042	0.47624	0.2648:0.0:0.7352:0.0	.	333	Q86SH2	ZAR1_HUMAN	N	333	ENSP00000329803:K333N	ENSP00000329803:K333N	K	+	3	2	ZAR1	48189575	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	2.334000	0.43920	0.752000	0.32923	0.462000	0.41574	AAG	.		0.418	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219927.3		
OPRD1	4985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	29189631	29189631	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:29189631G>A	ENST00000234961.2	+	3	1197	c.955G>A	c.(955-957)Gct>Act	p.A319T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	319					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGTGCTCTACGCTTTCCTCGA	0.687																																					p.A319T		.											OPRD1,colon,carcinoma,0,1	OPRD1	0	0			c.G955A						.						26.0	24.0	25.0					1																	29189631		2203	4299	6502	SO:0001583	missense	4985	exon3			CTCTACGCTTTCC	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.955G>A	1.37:g.29189631G>A	ENSP00000234961:p.Ala319Thr	Somatic	46	0		WXS	Illumina HiSeq	.	14	10	NM_000911	B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191468	0.78902	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.38240	1.15	4.06	4.06	0.47325	.	0.122362	0.56097	D	0.000037	T	0.36276	0.0961	M	0.69358	2.11	0.80722	D	1	P	0.38729	0.644	B	0.34346	0.18	T	0.47169	-0.9138	10	0.87932	D	0	.	13.7884	0.63123	0.0:0.0:1.0:0.0	.	319	P41143	OPRD_HUMAN	T	319;271	ENSP00000234961:A319T	ENSP00000234961:A319T	A	+	1	0	OPRD1	29062218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.539000	0.98076	2.097000	0.63578	0.462000	0.41574	GCT	.		0.687	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
C6orf62	81688	hgsc.bcm.edu	37	6	24706388	24706388	+	Missense_Mutation	SNP	G	G	T	rs372450488		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:24706388G>T	ENST00000378119.4	-	5	2834	c.667C>A	c.(667-669)Ctc>Atc	p.L223I	RP1-30M3.6_ENST00000606921.1_RNA|C6orf62_ENST00000378102.3_Missense_Mutation_p.L194I|C6orf62_ENST00000540769.1_Missense_Mutation_p.L165I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	223						intracellular (GO:0005622)		p.L223I(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TAAGGACGGAGGTGATCCTCT	0.443																																					p.L223I		.											C6orf62,NS,carcinoma,0,2	C6orf62	0	2	Substitution - Missense(2)	kidney(2)	c.C667A						.						131.0	112.0	119.0					6																	24706388		2203	4300	6503	SO:0001583	missense	81688	exon5			GACGGAGGTGATC	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.667C>A	6.37:g.24706388G>T	ENSP00000367359:p.Leu223Ile	Somatic	51	0		WXS	Illumina HiSeq	.	33	2	NM_030939	Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866619	0.72065	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.41065	1.01;1.01;1.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	N	0.19112	0.55	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	T	0.49153	-0.8969	10	0.66056	D	0.02	-11.0338	20.8794	0.99867	0.0:0.0:1.0:0.0	.	223	Q9GZU0	CF062_HUMAN	I	223;165;194	ENSP00000367359:L223I;ENSP00000446225:L165I;ENSP00000367342:L194I	ENSP00000367342:L194I	L	-	1	0	C6orf62	24814367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.772000	0.98984	2.941000	0.99782	0.655000	0.94253	CTC	.		0.443	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939	
SHPRH	257218	hgsc.bcm.edu	37	6	146256253	146256253	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:146256253G>T	ENST00000367505.2	-	13	3044	c.2780C>A	c.(2779-2781)tCt>tAt	p.S927Y	SHPRH_ENST00000438092.2_Missense_Mutation_p.S927Y|SHPRH_ENST00000275233.7_Missense_Mutation_p.S927Y|SHPRH_ENST00000367503.3_Missense_Mutation_p.S927Y			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	927					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S927F(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCCACTGGAGAAAAGTGGAG	0.418																																					p.S927Y		.											SHPRH_ENST00000367505,NS,carcinoma,0,2	SHPRH_ENST00000367505	0	1	Substitution - Missense(1)	lung(1)	c.C2780A						.						76.0	73.0	74.0					6																	146256253		1889	4123	6012	SO:0001583	missense	257218	exon13			ACTGGAGAAAAGT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2780C>A	6.37:g.146256253G>T	ENSP00000356475:p.Ser927Tyr	Somatic	61	0		WXS	Illumina HiSeq	.	26	2	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569291	0.86439	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.91	5.05	0.67936	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.999	D	0.93653	0.6975	10	0.87932	D	0	-14.2731	14.9349	0.70948	0.0682:0.0:0.9318:0.0	.	816;927;927	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	Y	927	ENSP00000356475:S927Y;ENSP00000356473:S927Y;ENSP00000412797:S927Y;ENSP00000275233:S927Y	ENSP00000275233:S927Y	S	-	2	0	SHPRH	146297946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.513000	0.48852	0.655000	0.94253	TCT	.		0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SLFN12	55106	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	33749505	33749505	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:33749505G>A	ENST00000394562.1	-	4	1066	c.543C>T	c.(541-543)gcC>gcT	p.A181A	SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Silent_p.A181A|SLFN12_ENST00000304905.5_Silent_p.A181A			Q8IYM2	SLN12_HUMAN	schlafen family member 12	181							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAAACCCCGGCCAAGGCCT	0.368																																					p.A181A		.											.	.	.	0			c.C543T						.						56.0	60.0	58.0					17																	33749505		2182	4289	6471	SO:0001819	synonymous_variant	55106	exon2			AACCCCGGCCAAG	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.543C>T	17.37:g.33749505G>A		Somatic	72	0		WXS	Illumina HiSeq	.	80	21	NM_018042	A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	CCDS11295.1																																																																																			.		0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042	
DIDO1	11083	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	61512147	61512147	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:61512147C>G	ENST00000266070.4	-	16	5486	c.5161G>C	c.(5161-5163)Ggg>Cgg	p.G1721R	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1721R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1721					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTCTGTCCCCCTCTGTTTCA	0.647																																					p.G1721R	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	.											.	.	.	0			c.G5161C						.						65.0	76.0	72.0					20																	61512147		2203	4300	6503	SO:0001583	missense	11083	exon16			TGTCCCCCTCTGT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5161G>C	20.37:g.61512147C>G	ENSP00000266070:p.Gly1721Arg	Somatic	33	0		WXS	Illumina HiSeq	.	22	9	NM_001193369	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634246	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12255	2.7;2.7	5.02	3.08	0.35506	.	0.176742	0.26991	N	0.021465	T	0.09555	0.0235	L	0.32530	0.975	0.09310	N	0.999998	B	0.18013	0.025	B	0.14023	0.01	T	0.26224	-1.0109	10	0.72032	D	0.01	-8.9557	4.7475	0.13045	0.1709:0.6463:0.0:0.1828	.	1721	Q9BTC0	DIDO1_HUMAN	R	1721	ENSP00000266070:G1721R;ENSP00000378752:G1721R	ENSP00000266070:G1721R	G	-	1	0	DIDO1	60982592	0.654000	0.27367	0.013000	0.15412	0.017000	0.09413	1.998000	0.40796	0.505000	0.28104	0.555000	0.69702	GGG	.		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
Unknown	0	hgsc.bcm.edu	37	2	162360518	162360518	+	IGR	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:162360518G>A								AC009487.5 (75233 upstream) : snoU13 (54535 downstream)																							TCTTTAAGTCGTTGAGGAGAC	0.438																																					.		.											.	.	.	0			.						.																																			SO:0001628	intergenic_variant	285116	.			TAAGTCGTTGAGG																													2.37:g.162360518G>A		Somatic	78	0		WXS	Illumina HiSeq	.	59	27	.		RNA	SNP		37																																																																																				.	0	0.438								
LRRC53	100144878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	74957851	74957851	+	Intron	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:74957851A>G	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.N865S|TNNI3K_ENST00000370891.2_Missense_Mutation_p.N852S|TNNI3K_ENST00000326637.3_Missense_Mutation_p.N751S			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TGCCTGGTGAACCGGGGAGGA	0.493																																					p.N852S		.											.	.	.	0			c.A2555G						.						194.0	196.0	195.0					1																	74957851		2203	4300	6503	SO:0001627	intron_variant	100526835	exon25			TGGTGAACCGGGG			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8792T>C	1.37:g.74957851A>G		Somatic	121	0		WXS	Illumina HiSeq	.	74	24	NM_001112808		Missense_Mutation	SNP	ENST00000294635.4	37		.	.	.	.	.	.	.	.	.	.	A	0.850	-0.739036	0.03088	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.73575	-0.76;-0.76;-0.75	5.59	0.281	0.15687	.	0.273746	0.41097	N	0.000948	T	0.15955	0.0384	N	0.02539	-0.55	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42999	-0.9418	10	0.02654	T	1	.	7.1999	0.25874	0.2979:0.1717:0.5304:0.0	.	751;852	Q59H18;Q59H18-1	TNI3K_HUMAN;.	S	852;852;751	ENSP00000450895:N852S;ENSP00000359928:N852S;ENSP00000322251:N751S	ENSP00000322251:N751S	N	+	2	0	RP11-653A5.2;AC093158.1	74730439	0.105000	0.21958	0.739000	0.30968	0.737000	0.42083	0.680000	0.25306	0.062000	0.16340	-0.146000	0.13790	AAC	.		0.493	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2		
S100A4	6275	hgsc.bcm.edu	37	1	153516381	153516381	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:153516381C>T	ENST00000368716.4	-	3	307	c.160G>A	c.(160-162)Gct>Act	p.A54T	S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.A54T|S100A4_ENST00000368715.1_Missense_Mutation_p.A54T|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000354332.4_Missense_Mutation_p.A54T|S100A5_ENST00000359215.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	54	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	TTCTGGAAAGCAGCTTCATCT	0.517																																					p.A54T		.											.	.	.	0			c.G160A						.						210.0	189.0	196.0					1																	153516381		2203	4300	6503	SO:0001583	missense	6275	exon3			GGAAAGCAGCTTC	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.160G>A	1.37:g.153516381C>T	ENSP00000357705:p.Ala54Thr	Somatic	50	0		WXS	Illumina HiSeq	.	63	4	NM_002961	A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986661	0.53934	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	4.75	4.75	0.60458	EF-hand-like domain (1);	0.059610	0.64402	D	0.000003	T	0.03520	0.0101	N	0.21545	0.675	0.54753	D	0.999983	B	0.06786	0.001	B	0.11329	0.006	T	0.28650	-1.0037	10	0.11794	T	0.64	.	13.2685	0.60148	0.0:1.0:0.0:0.0	.	54	P26447	S10A4_HUMAN	T	54;54;54;54;43	ENSP00000357704:A54T;ENSP00000346294:A54T;ENSP00000357705:A54T;ENSP00000357703:A54T	ENSP00000346294:A54T	A	-	1	0	S100A4	151783005	0.439000	0.25610	0.465000	0.27155	0.968000	0.65278	2.169000	0.42434	2.202000	0.70862	0.561000	0.74099	GCT	.		0.517	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961	
SCUBE2	57758	hgsc.bcm.edu	37	11	9101052	9101052	+	Silent	SNP	G	G	A	rs548017893		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:9101052G>A	ENST00000309263.3	-	3	333	c.261C>T	c.(259-261)atC>atT	p.I87I	SCUBE2_ENST00000450649.2_Silent_p.I87I|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000457346.2_Silent_p.I87I|SCUBE2_ENST00000520467.1_Silent_p.I87I			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	87	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I87I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTCATCGATGTCTGAGG	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21431	0.0		0.0	False		,,,				2504	0.0				p.I87I		.											SCUBE2_ENST00000457346,NS,carcinoma,0,2	SCUBE2_ENST00000457346	0	1	Substitution - coding silent(1)	lung(1)	c.C261T						.						193.0	166.0	175.0					11																	9101052		2201	4296	6497	SO:0001819	synonymous_variant	57758	exon3			TTCATCGATGTCT	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.261C>T	11.37:g.9101052G>A		Somatic	65	1		WXS	Illumina HiSeq	.	34	2	NM_001170690	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37																																																																																				.		0.413	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
PLA2G1B	5319	hgsc.bcm.edu	37	12	120765537	120765537	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:120765537G>T	ENST00000308366.4	-	1	55	c.20C>A	c.(19-21)gCt>gAt	p.A7D	PLA2G1B_ENST00000423423.3_Missense_Mutation_p.A7D|PLA2G1B_ENST00000549767.1_5'Flank	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	7					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)	p.A7V(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	GAGCAGCACAGCTAGCACAAG	0.532																																					p.A7D	NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	.											PLA2G1B,caecum,carcinoma,0,1	PLA2G1B	0	1	Substitution - Missense(1)	large_intestine(1)	c.C20A						.						131.0	119.0	123.0					12																	120765537		2203	4300	6503	SO:0001583	missense	5319	exon1			AGCACAGCTAGCA		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.20C>A	12.37:g.120765537G>T	ENSP00000312286:p.Ala7Asp	Somatic	54	0		WXS	Illumina HiSeq	.	34	2	NM_000928	B2R4H5|Q3KPI1	Missense_Mutation	SNP	ENST00000308366.4	37	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953235	0.53293	.	.	ENSG00000170890	ENST00000308366;ENST00000423423	T;T	0.65916	1.87;-0.18	4.7	4.7	0.59300	.	0.922936	0.09240	N	0.829362	T	0.70979	0.3286	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.67146	-0.5744	10	0.87932	D	0	-5.474	13.3158	0.60407	0.0:0.0:1.0:0.0	.	7;7	Q9BS22;P04054	.;PA21B_HUMAN	D	7	ENSP00000312286:A7D;ENSP00000413594:A7D	ENSP00000312286:A7D	A	-	2	0	PLA2G1B	119249920	0.991000	0.36638	1.000000	0.80357	0.320000	0.28249	1.562000	0.36353	2.615000	0.88500	0.591000	0.81541	GCT	.		0.532	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1		
TAF1L	138474	hgsc.bcm.edu	37	9	32633786	32633786	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:32633786C>A	ENST00000242310.4	-	1	1881	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	598					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Q597_G598>HC(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCGAAGACCCTGTTGCTTG	0.478																																					p.G598C		.											.,1	.	382	2	Complex - compound substitution(2)	lung(2)	c.G1792T						.						174.0	181.0	179.0					9																	32633786		2203	4300	6503	SO:0001583	missense	138474	exon1			GAAGACCCTGTTG	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1792G>T	9.37:g.32633786C>A	ENSP00000418379:p.Gly598Cys	Somatic	62	0		WXS	Illumina HiSeq	.	26	2	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137520	0.37728	.	.	ENSG00000122728	ENST00000242310	T	0.14144	2.53	1.04	-0.0542	0.13815	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.43152	1.355	0.43211	D	0.995073	D	0.76494	0.999	D	0.72075	0.976	T	0.03278	-1.1053	10	0.59425	D	0.04	.	4.9434	0.13976	0.0:0.7269:0.0:0.2731	.	598	Q8IZX4	TAF1L_HUMAN	C	598	ENSP00000418379:G598C	ENSP00000418379:G598C	G	-	1	0	TAF1L	32623786	0.943000	0.32029	0.873000	0.34254	0.217000	0.24651	3.420000	0.52735	0.507000	0.28148	0.195000	0.17529	GGT	.		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
KLHL25	64410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	86311759	86311759	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:86311759G>A	ENST00000337975.5	-	2	1557	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.A428V	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	428					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCGCAAGGGGGCCACCATCAT	0.592																																					p.A428V		.											.	.	.	0			c.C1283T						.						56.0	55.0	56.0					15																	86311759		2202	4299	6501	SO:0001583	missense	64410	exon2			AAGGGGGCCACCA		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1283C>T	15.37:g.86311759G>A	ENSP00000336800:p.Ala428Val	Somatic	39	0		WXS	Illumina HiSeq	.	22	10	NM_022480	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844719	0.51164	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.80304	-1.36;-1.36	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.057013	0.64402	D	0.000002	D	0.83133	0.5188	L	0.58354	1.805	0.58432	D	0.999999	B	0.20052	0.041	B	0.36959	0.237	T	0.81378	-0.0960	10	0.87932	D	0	.	18.1417	0.89642	0.0:0.0:1.0:0.0	.	428	Q9H0H3	ENC2_HUMAN	V	428;397;428	ENSP00000336800:A428V;ENSP00000444739:A428V	ENSP00000336800:A428V	A	-	2	0	KLHL25	84112763	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	GCC	.		0.592	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480	
LGI1	9211	hgsc.bcm.edu	37	10	95557554	95557554	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:95557554C>T	ENST00000371418.4	+	8	1928	c.1668C>T	c.(1666-1668)agC>agT	p.S556S	LGI1_ENST00000542308.1_Silent_p.S508S|LGI1_ENST00000371413.3_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	556					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTGACTTAAGCGCATGAGACA	0.373																																					p.S556S		.											LGI1,NS,carcinoma,0,1	LGI1	0	0			c.C1668T						.						41.0	44.0	43.0					10																	95557554		2199	4285	6484	SO:0001819	synonymous_variant	9211	exon8			CTTAAGCGCATGA	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1668C>T	10.37:g.95557554C>T		Somatic	50	0		WXS	Illumina HiSeq	.	45	2	NM_005097	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	CCDS7431.1																																																																																			.		0.373	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097	
HECW2	57520	hgsc.bcm.edu	37	2	197184391	197184391	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:197184391G>T	ENST00000260983.3	-	9	1405	c.1223C>A	c.(1222-1224)cCt>cAt	p.P408H	HECW2_ENST00000409111.1_Missense_Mutation_p.P52H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	408					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P408L(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCTCTGGGAGGTGAGGTCCT	0.522																																					p.P408H		.											HECW2,NS,carcinoma,0,1	HECW2	0	1	Substitution - Missense(1)	kidney(1)	c.C1223A						.						89.0	91.0	90.0					2																	197184391		2203	4300	6503	SO:0001583	missense	57520	exon9			CTGGGAGGTGAGG	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1223C>A	2.37:g.197184391G>T	ENSP00000260983:p.Pro408His	Somatic	45	0		WXS	Illumina HiSeq	.	52	3	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623622	0.46840	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.34275	1.37;1.47	5.64	5.64	0.86602	.	0.381500	0.29424	N	0.012195	T	0.35970	0.0950	N	0.19112	0.55	0.39970	D	0.97477	D	0.57257	0.979	P	0.50231	0.635	T	0.07868	-1.0750	10	0.40728	T	0.16	.	18.0636	0.89384	0.0:0.0:1.0:0.0	.	408	Q9P2P5	HECW2_HUMAN	H	52;408	ENSP00000386775:P52H;ENSP00000260983:P408H	ENSP00000260983:P408H	P	-	2	0	HECW2	196892636	1.000000	0.71417	0.980000	0.43619	0.891000	0.51852	5.883000	0.69721	2.937000	0.99478	0.650000	0.86243	CCT	.		0.522	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
AKAP12	9590	hgsc.bcm.edu	37	6	151674611	151674611	+	Silent	SNP	G	G	T	rs569287283	byFrequency	TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:151674611G>T	ENST00000253332.1	+	3	5274	c.5085G>T	c.(5083-5085)ccG>ccT	p.P1695P	AKAP12_ENST00000402676.2_Silent_p.P1695P|AKAP12_ENST00000359755.5_Silent_p.P1590P|AKAP12_ENST00000354675.6_Silent_p.P1597P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1695					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAGTTGAACCGAAAGAAGATG	0.473																																					p.P1695P	Melanoma(141;1616 1805 10049 24534 51979)	.											AKAP12,face,carcinoma,+1,1	AKAP12	+1	0			c.G5085T						.						73.0	63.0	66.0					6																	151674611		2203	4300	6503	SO:0001819	synonymous_variant	9590	exon4			TGAACCGAAAGAA	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.5085G>T	6.37:g.151674611G>T		Somatic	58	0		WXS	Illumina HiSeq	.	30	2	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	CCDS5229.1																																																																																			.		0.473	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
CYP4A11	1579	hgsc.bcm.edu;bcgsc.ca	37	1	47395907	47395907	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:47395907C>T	ENST00000310638.4	-	12	1471	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	CYP4A11_ENST00000462347.1_Silent_p.L382L|CYP4A11_ENST00000371904.4_Silent_p.L481L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	480					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GATCAGGCAGCAGCTCAAAGC	0.547																																					p.L480L		.											.	.	.	0			c.G1440A						.						131.0	117.0	122.0					1																	47395907		2203	4300	6503	SO:0001819	synonymous_variant	1579	exon12			AGGCAGCAGCTCA	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1440G>A	1.37:g.47395907C>T		Somatic	113	0		WXS	Illumina HiSeq	.	52	4	NM_000778	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	CCDS543.1																																																																																			.		0.547	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778	
GPR161	23432	hgsc.bcm.edu	37	1	168073858	168073858	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:168073858G>T	ENST00000367838.1	-	4	544	c.231C>A	c.(229-231)tcC>tcA	p.S77S	GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_Silent_p.S77S|GPR161_ENST00000537209.1_Silent_p.S97S|GPR161_ENST00000367835.1_Silent_p.S77S|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000361697.2_Silent_p.S77S|GPR161_ENST00000539777.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	77					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.S77S(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GCACCAACACGGACAGCAGGA	0.532																																					p.S97S		.											GPR161,NS,carcinoma,0,1	GPR161	0	1	Substitution - coding silent(1)	endometrium(1)	c.C291A						.						238.0	209.0	219.0					1																	168073858		2203	4300	6503	SO:0001819	synonymous_variant	23432	exon3			CAACACGGACAGC	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.231C>A	1.37:g.168073858G>T		Somatic	38	0		WXS	Illumina HiSeq	.	47	2	NM_001267609	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	CCDS1268.1																																																																																			.		0.532	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	90052799	90052799	+	Missense_Mutation	SNP	G	G	A	rs200576500	byFrequency	TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:90052799G>A	ENST00000405460.2	+	57	11857	c.11761G>A	c.(11761-11763)Gct>Act	p.A3921T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3921	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTAAAGGGCGCTGGGGAAGT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16046	0.0		0.0	False		,,,				2504	0.0				p.A3921T		.											.	.	.	0			c.G11761A						.	G	THR/ALA	5,3673		0,5,1834	77.0	75.0	76.0		11761	2.3	0.1	5		76	0,8158		0,0,4079	yes	missense	GPR98	NM_032119.3	58	0,5,5913	AA,AG,GG		0.0,0.1359,0.0422	benign	3921/6307	90052799	5,11831	1839	4079	5918	SO:0001583	missense	84059	exon57			AAGGGCGCTGGGG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11761G>A	5.37:g.90052799G>A	ENSP00000384582:p.Ala3921Thr	Somatic	65	0		WXS	Illumina HiSeq	.	49	21	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.526	-0.860029	0.02610	0.001359	0.0	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27256	1.68	5.3	2.27	0.28462	Na-Ca exchanger/integrin-beta4 (1);	0.732108	0.13525	N	0.381387	T	0.11879	0.0289	N	0.14661	0.345	0.22050	N	0.999396	B;B	0.23058	0.079;0.013	B;B	0.10450	0.005;0.002	T	0.25012	-1.0144	10	0.25751	T	0.34	.	4.1082	0.10047	0.2731:0.3558:0.3711:0.0	.	3921;3921	E7ETI5;Q8WXG9	.;GPR98_HUMAN	T	3921	ENSP00000384582:A3921T	ENSP00000296619:A3921T	A	+	1	0	GPR98	90088555	0.001000	0.12720	0.090000	0.20809	0.015000	0.08874	-0.111000	0.10807	0.694000	0.31654	0.467000	0.42956	GCT	.		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
RBM25	58517	hgsc.bcm.edu	37	14	73538375	73538375	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr14:73538375G>T	ENST00000261973.7	+	2	311	c.26G>T	c.(25-27)cGc>cTc	p.R9L	RBM25_ENST00000526754.1_Missense_Mutation_p.R9L|RBM25_ENST00000527432.1_Missense_Mutation_p.R9L|RBM25_ENST00000540173.1_Missense_Mutation_p.R9L|RBM25_ENST00000525321.1_Missense_Mutation_p.R9L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	9					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTGAATCGCCCTCCCATG	0.443																																					p.R9L		.											RBM25,NS,carcinoma,0,2	RBM25	0	0			c.G26T						.						97.0	96.0	97.0					14																	73538375		2203	4300	6503	SO:0001583	missense	58517	exon2			TGAATCGCCCTCC	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.26G>T	14.37:g.73538375G>T	ENSP00000261973:p.Arg9Leu	Somatic	91	0		WXS	Illumina HiSeq	.	40	2	NM_021239	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181683	0.78677	.	.	ENSG00000119707	ENST00000261973;ENST00000540173;ENST00000527432;ENST00000531500;ENST00000525321;ENST00000526754;ENST00000525161	T;T;T;T;T;T	0.33654	1.59;1.59;1.59;1.4;1.4;1.59	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.43152	1.355	0.54753	D	0.999985	B;P	0.52170	0.015;0.951	B;P	0.47744	0.02;0.556	T	0.13361	-1.0512	10	0.39692	T	0.17	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	9;9	P49756;P49756-2	RBM25_HUMAN;.	L	9	ENSP00000261973:R9L;ENSP00000437934:R9L;ENSP00000431150:R9L;ENSP00000434333:R9L;ENSP00000436868:R9L;ENSP00000436225:R9L	ENSP00000261973:R9L	R	+	2	0	RBM25	72608128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.084000	0.94076	2.594000	0.87642	0.585000	0.79938	CGC	.		0.443	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
RNF5	6048	hgsc.bcm.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.T136I	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																					p.T136I		.											RNF5,NS,carcinoma,0,3	RNF5	0	3	Substitution - Missense(3)	lung(3)	c.C407T						.						151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	6048	exon5			TCACCACCGTCTT	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile	Somatic	25	0		WXS	Illumina HiSeq	.	26	2	NM_006913	A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC	.		0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913	
MRPS27	23107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	71519605	71519605	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:71519605C>T	ENST00000261413.5	-	10	949	c.910G>A	c.(910-912)Gat>Aat	p.D304N	MRPS27_ENST00000513900.1_Missense_Mutation_p.D318N|MRPS27_ENST00000522562.1_5'Flank|MRPS27_ENST00000457646.4_Missense_Mutation_p.D248N	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	304						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTGTCTTCATCATTTTGGGAC	0.512																																					p.D304N		.											.	.	.	0			c.G910A						.						129.0	124.0	126.0					5																	71519605		2203	4300	6503	SO:0001583	missense	23107	exon10			CTTCATCATTTTG	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.910G>A	5.37:g.71519605C>T	ENSP00000261413:p.Asp304Asn	Somatic	69	0		WXS	Illumina HiSeq	.	46	24	NM_015084	B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	C	4.160	0.028194	0.08054	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	6.16	0.898	0.19264	.	0.539790	0.21644	N	0.071292	T	0.16171	0.0389	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.25007	0.116;0.049;0.116	B;B;B	0.22152	0.038;0.023;0.038	T	0.10660	-1.0620	10	0.21014	T	0.42	-23.132	2.597	0.04856	0.1799:0.5253:0.104:0.1908	.	318;85;304	B4DRT2;E7ETN4;Q92552	.;.;RT27_HUMAN	N	304;248;318;248	ENSP00000261413:D304N;ENSP00000428120:D248N;ENSP00000426941:D318N;ENSP00000426176:D248N	ENSP00000261413:D304N	D	-	1	0	MRPS27	71555361	0.000000	0.05858	0.003000	0.11579	0.238000	0.25445	0.125000	0.15749	0.490000	0.27771	0.650000	0.86243	GAT	.		0.512	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084	
PREX2	80243	hgsc.bcm.edu	37	8	68984774	68984774	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:68984774C>T	ENST00000288368.4	+	14	1815	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	513	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGGTCATGGCCAACAAACTG	0.338																																					p.A513V		.											.	.	.	0			c.C1538T						.						127.0	133.0	131.0					8																	68984774		2203	4300	6503	SO:0001583	missense	80243	exon14			TCATGGCCAACAA	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1538C>T	8.37:g.68984774C>T	ENSP00000288368:p.Ala513Val	Somatic	117	0		WXS	Illumina HiSeq	.	98	4	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440998	0.96168	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.15834	2.39	5.76	5.76	0.90799	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.991;0.991;0.984	T	0.48019	-0.9071	10	0.87932	D	0	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	513;513;513	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	V	513	ENSP00000288368:A513V	ENSP00000288368:A513V	A	+	2	0	PREX2	69147328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.800000	0.85949	2.721000	0.93114	0.591000	0.81541	GCC	.		0.338	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
EML3	256364	hgsc.bcm.edu	37	11	62378802	62378802	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:62378802G>T	ENST00000394773.2	-	3	516	c.209C>A	c.(208-210)cCa>cAa	p.P70Q	EML3_ENST00000494176.2_Missense_Mutation_p.P42Q|ROM1_ENST00000534093.1_5'Flank|ROM1_ENST00000278833.3_5'Flank|EML3_ENST00000531557.1_5'Flank|EML3_ENST00000529309.1_Missense_Mutation_p.P70Q|EML3_ENST00000278845.4_Missense_Mutation_p.P71Q	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	70						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGCAGTCCTGGGGGGGCTGC	0.607																																					p.P70Q		.											.,1	.	61	0			c.C209A						.						27.0	30.0	29.0					11																	62378802		2199	4295	6494	SO:0001583	missense	256364	exon3			AGTCCTGGGGGGG	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.209C>A	11.37:g.62378802G>T	ENSP00000378254:p.Pro70Gln	Somatic	98	0		WXS	Illumina HiSeq	.	70	3	NM_153265	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	CCDS8023.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527055	0.44969	.	.	ENSG00000149499	ENST00000394773;ENST00000278845;ENST00000494176;ENST00000529309;ENST00000466886;ENST00000466671;ENST00000419857	T;T;T;T	0.41758	1.75;1.74;0.99;1.64	5.05	4.14	0.48551	.	0.303076	0.28166	N	0.016345	T	0.46776	0.1410	N	0.24115	0.695	0.33678	D	0.611722	D;D;D;D	0.71674	0.998;0.997;0.998;0.998	D;P;D;D	0.76071	0.962;0.879;0.987;0.962	T	0.58945	-0.7546	10	0.51188	T	0.08	-16.4395	9.7344	0.40379	0.097:0.0:0.903:0.0	.	70;70;71;42	Q32P44-2;Q32P44;B7WPE2;G3V1D0	.;EMAL3_HUMAN;.;.	Q	70;71;42;70;41;42;41	ENSP00000378254:P70Q;ENSP00000278845:P71Q;ENSP00000435064:P42Q;ENSP00000434513:P70Q	ENSP00000278845:P71Q	P	-	2	0	EML3	62135378	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	3.397000	0.52572	1.270000	0.44297	0.462000	0.41574	CCA	.		0.607	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265	
HNRNPUL2	221092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62490357	62490357	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:62490357T>C	ENST00000301785.5	-	5	1102	c.910A>G	c.(910-912)Atg>Gtg	p.M304V	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.M304V	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTTCTTTCATTGGGAGATTC	0.423																																					p.M304V		.											.	.	.	0			c.A910G						.						86.0	85.0	85.0					11																	62490357		1867	4096	5963	SO:0001583	missense	221092	exon5			CTTTCATTGGGAG		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.910A>G	11.37:g.62490357T>C	ENSP00000301785:p.Met304Val	Somatic	53	0		WXS	Illumina HiSeq	.	45	21	NM_001079559	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	0.735	-0.778324	0.02929	.	.	ENSG00000214753	ENST00000301785	T	0.66638	-0.22	5.25	0.378	0.16204	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.423460	0.27469	N	0.019223	T	0.13286	0.0322	N	0.00039	-2.505	0.26234	N	0.978966	B	0.10296	0.003	B	0.04013	0.001	T	0.46527	-0.9185	10	0.02654	T	1	-5.3097	0.9345	0.01342	0.1438:0.1789:0.2708:0.4065	.	304	Q1KMD3	HNRL2_HUMAN	V	304	ENSP00000301785:M304V	ENSP00000301785:M304V	M	-	1	0	HNRNPUL2	62246933	0.199000	0.23386	1.000000	0.80357	0.998000	0.95712	-0.220000	0.09215	0.478000	0.27488	0.528000	0.53228	ATG	.		0.423	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
IZUMO2	126123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	50657879	50657879	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:50657879C>T	ENST00000293405.3	-	6	601	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	201						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ACCACGAAGACAAAGACAGCC	0.607																																					p.V201I		.											.	.	.	0			c.G601A						.						132.0	153.0	146.0					19																	50657879		2129	4237	6366	SO:0001583	missense	126123	exon6			CGAAGACAAAGAC	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.601G>A	19.37:g.50657879C>T	ENSP00000293405:p.Val201Ile	Somatic	122	0		WXS	Illumina HiSeq	.	88	39	NM_152358	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.561261	0.00910	.	.	ENSG00000161652	ENST00000293405	T	0.45668	0.89	3.32	-6.63	0.01807	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.05305	-1.0893	9	0.22109	T	0.4	.	2.1227	0.03730	0.2621:0.2116:0.3681:0.1581	.	201	Q6UXV1	IZUM2_HUMAN	I	201	ENSP00000293405:V201I	ENSP00000293405:V201I	V	-	1	0	IZUMO2	55349691	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.740000	0.01839	-4.934000	0.00026	-2.269000	0.00276	GTC	.		0.607	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358	
ARHGEF4	50649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	131797699	131797699	+	Silent	SNP	C	C	G	rs138695820		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:131797699C>G	ENST00000326016.5	+	7	1377	c.858C>G	c.(856-858)acC>acG	p.T286T	ARHGEF4_ENST00000392953.3_Silent_p.T286T|ARHGEF4_ENST00000409303.1_Silent_p.T286T|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.T286T|ARHGEF4_ENST00000355771.3_Silent_p.T215T	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	286	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGATGCGGACCAACGTCATCA	0.687																																					p.T286T		.											.	.	.	0			c.C858G						.	C	,	0,4406		0,0,2203	74.0	71.0	72.0		858,858	2.0	1.0	2	dbSNP_134	72	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous,coding-synonymous	ARHGEF4	NM_015320.2,NM_032995.1	,	0,2,6500	GG,GC,CC		0.0233,0.0,0.0154	,	286/691,286/671	131797699	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	50649	exon7			GCGGACCAACGTC	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.858C>G	2.37:g.131797699C>G		Somatic	89	0		WXS	Illumina HiSeq	.	66	11	NM_032995	Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	CCDS2165.1																																																																																			0.000		0.687	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
ALB	213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	74276063	74276063	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:74276063C>T	ENST00000503124.1	+	4	407	c.200C>T	c.(199-201)tCt>tTt	p.S67F	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.S217F|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Missense_Mutation_p.S217F|ALB_ENST00000401494.3_Missense_Mutation_p.S102F			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGCTTCGTCTGCCAAACAG	0.378																																					p.S217F		.											.	.	.	0			c.C650T						.						86.0	91.0	90.0					4																	74276063		2203	4300	6503	SO:0001583	missense	213	exon6			CTTCGTCTGCCAA	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.200C>T	4.37:g.74276063C>T	ENSP00000421027:p.Ser67Phe	Somatic	70	0		WXS	Illumina HiSeq	.	44	20	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	C	11.93	1.785637	0.31593	.	.	ENSG00000163631	ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T	0.58060	0.36;0.93;0.36;0.93	5.46	2.52	0.30459	Serum albumin-like (1);Serum albumin, N-terminal (2);	1.494230	0.03511	N	0.219490	T	0.76955	0.4060	M	0.82193	2.58	0.09310	N	1	D;D;D;D	0.76494	0.999;0.991;0.984;0.984	D;P;P;P	0.69654	0.965;0.77;0.655;0.77	T	0.58758	-0.7580	10	0.87932	D	0	-4.436	13.9511	0.64118	0.0:0.5224:0.4776:0.0	.	102;67;217;217	B7WNR0;D6RHD5;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	F	217;67;217;102;226	ENSP00000295897:S217F;ENSP00000421027:S67F;ENSP00000422784:S217F;ENSP00000384695:S102F	ENSP00000295897:S217F	S	+	2	0	ALB	74494927	0.000000	0.05858	0.029000	0.17559	0.177000	0.22998	0.329000	0.19698	0.712000	0.32039	0.555000	0.69702	TCT	.		0.378	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	179528071	179528071	+	Intron	SNP	C	C	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:179528071C>G	ENST00000591111.1	-	154	34489				TTN_ENST00000589042.1_Missense_Mutation_p.E12208Q|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCACCTCTGGGACTTTA	0.418																																					p.E12208Q		.											TTN_ENST00000541862,NS,carcinoma,0,1	TTN_ENST00000541862	0	0			c.G36622C						.						57.0	65.0	63.0					2																	179528071		865	1982	2847	SO:0001627	intron_variant	7273	exon173			GCACCTCTGGGAC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-4550G>C	2.37:g.179528071C>G		Somatic	454	0		WXS	Illumina HiSeq	.	305	140	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	13.80	2.346615	0.41599	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	4.22	2.24	0.28232	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.18873	N	0.999983	P	0.39216	0.664	B	0.36504	0.226	T	0.12016	-1.0564	7	0.56958	D	0.05	.	8.4541	0.32888	0.0:0.7589:0.1528:0.0883	.	482	Q71S18	.	Q	482;334	.	ENSP00000376219:E334Q	E	-	1	0	TTN	179236316	0.000000	0.05858	0.425000	0.26659	0.583000	0.36354	0.323000	0.19593	0.904000	0.36572	-0.438000	0.05819	GAG	.		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITPRIP	85450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	106074385	106074385	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:106074385G>A	ENST00000337478.1	-	2	1596	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	ITPRIP_ENST00000278071.2_Silent_p.H475H|ITPRIP_ENST00000358187.2_Silent_p.H475H|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	475						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAAGAAGTGGTGGAGCTTCT	0.652																																					p.H475H		.											.	.	.	0			c.C1425T						.						60.0	64.0	62.0					10																	106074385		2203	4300	6503	SO:0001819	synonymous_variant	85450	exon2			GAAGTGGTGGAGC	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1425C>T	10.37:g.106074385G>A		Somatic	21	0		WXS	Illumina HiSeq	.	15	8	NM_001272013	D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	CCDS7557.1																																																																																			.		0.652	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397	
MC3R	4159	hgsc.bcm.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517																																					p.R307C		.											MC3R,colon,carcinoma,-1,2	MC3R	-1	1	Substitution - Missense(1)	breast(1)	c.C919T						.						171.0	162.0	165.0					20																	54824818		2203	4300	6503	SO:0001583	missense	4159	exon1			GAATTGCGCAACA		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.919C>T	20.37:g.54824818C>T	ENSP00000243911:p.Arg307Cys	Somatic	55	0		WXS	Illumina HiSeq	.	35	2	NM_019888	Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC	.		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
ADCK4	79934	hgsc.bcm.edu	37	19	41197996	41197996	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:41197996C>T	ENST00000324464.3	-	15	1880	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	NUMBL_ENST00000598779.1_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000252891.4_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.A486T|NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.A486T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	527						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCAGTGGCTGCGTCTGGCTGG	0.667																																					p.A527T		.											.	.	.	0			c.G1579A						.						21.0	22.0	22.0					19																	41197996		2202	4291	6493	SO:0001583	missense	79934	exon15			TGGCTGCGTCTGG	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1579G>A	19.37:g.41197996C>T	ENSP00000315118:p.Ala527Thr	Somatic	44	0		WXS	Illumina HiSeq	.	46	4	NM_024876	Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801303	0.50315	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.74632	-0.86;-0.47;-0.47	4.84	-9.69	0.00524	.	0.949466	0.08817	N	0.889331	T	0.40040	0.1101	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28586	-1.0039	10	0.11182	T	0.66	0.7801	3.6198	0.08092	0.1057:0.2308:0.4663:0.1971	.	527;486	Q96D53;Q96D53-2	ADCK4_HUMAN;.	T	527;486;486	ENSP00000315118:A527T;ENSP00000412839:A486T;ENSP00000243583:A486T	ENSP00000243583:A486T	A	-	1	0	ADCK4	45889836	0.000000	0.05858	0.000000	0.03702	0.576000	0.36127	-3.329000	0.00510	-2.070000	0.00881	-0.459000	0.05422	GCA	.		0.667	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876	
NFE2L3	9603	hgsc.bcm.edu	37	7	26224872	26224872	+	Silent	SNP	G	G	T	rs373484767		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:26224872G>T	ENST00000056233.3	+	4	1813	c.1554G>T	c.(1552-1554)ggG>ggT	p.G518G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	518					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CGTGGCCTGGGAAGTCACAGA	0.428																																					p.G518G		.											.	.	.	0			c.G1554T						.						111.0	104.0	106.0					7																	26224872		2203	4300	6503	SO:0001819	synonymous_variant	9603	exon4			GCCTGGGAAGTCA	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1554G>T	7.37:g.26224872G>T		Somatic	79	0		WXS	Illumina HiSeq	.	73	4	NM_004289	Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	ENST00000056233.3	37	CCDS5396.1																																																																																			.		0.428	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1		
HCN2	610	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	613928	613928	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:613928C>T	ENST00000251287.2	+	7	1955	c.1902C>T	c.(1900-1902)agC>agT	p.S634S	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	634					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCGCTGAGCGTGGACAACT	0.701																																					p.S634S	Melanoma(145;1175 2427 8056 36306)	.											.	.	.	0			c.C1902T						.						41.0	39.0	40.0					19																	613928		2200	4296	6496	SO:0001819	synonymous_variant	610	exon7			GCTGAGCGTGGAC	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1902C>T	19.37:g.613928C>T		Somatic	38	0		WXS	Illumina HiSeq	.	35	22	NM_001194	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																			.		0.701	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194	
LINC00346	283487	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	111522056	111522056	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr13:111522056C>T	ENST00000538077.1	-	1	106	c.82G>A	c.(82-84)Gcc>Acc	p.A28T				Q8IVM7	CM029_HUMAN	long intergenic non-protein coding RNA 346	28																	GCACTAATGGCGTGGTACCTC	0.557																																					.		.											.	.	.	0			.						.						64.0	64.0	64.0					13																	111522056		692	1591	2283	SO:0001583	missense	283487	.			TAATGGCGTGGTA			13q34	2014-06-17	2011-08-10	2011-08-10	ENSG00000255874	ENSG00000255874		"""Long non-coding RNAs"""	27492	non-coding RNA	RNA, long non-coding			"""chromosome 13 open reading frame 29"", ""non-protein coding RNA 346"""	C13orf29, NCRNA00346			Standard	NR_027701		Approved		uc001vrk.2	Q8IVM7	OTTHUMG00000187398	ENST00000538077.1:c.82G>A	13.37:g.111522056C>T	ENSP00000442216:p.Ala28Thr	Somatic	73	0		WXS	Illumina HiSeq	.	35	9	.		RNA	SNP	ENST00000538077.1	37		.	.	.	.	.	.	.	.	.	.	C	0.410	-0.913796	0.02415	.	.	ENSG00000255874	ENST00000538077	T	0.54866	0.55	0.771	-1.54	0.08584	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40572	-0.9556	6	0.87932	D	0	.	2.4419	0.04497	0.3732:0.4004:0.0:0.2264	.	.	.	.	T	28	ENSP00000442216:A28T	ENSP00000442216:A28T	A	-	1	0	NCRNA00346	110320057	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.824000	0.01708	-2.291000	0.00666	-1.026000	0.02426	GCC	.		0.557	LINC00346-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_027701	
TPTE	7179	hgsc.bcm.edu;broad.mit.edu	37	21	10941922	10941922	+	Nonsense_Mutation	SNP	T	T	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr21:10941922T>A	ENST00000361285.4	-	14	1110	c.781A>T	c.(781-783)Aga>Tga	p.R261*	TPTE_ENST00000298232.7_Nonsense_Mutation_p.R243*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R223*|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	261	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTGGATTTCTATAGAAAGAC	0.323																																					p.R261X		.											.	.	.	0			c.A781T						.						217.0	208.0	211.0					21																	10941922		2203	4299	6502	SO:0001587	stop_gained	7179	exon14			GATTTCTATAGAA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.781A>T	21.37:g.10941922T>A	ENSP00000355208:p.Arg261*	Somatic	224	0		WXS	Illumina HiSeq	.	112	10	NM_199261	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	27.7	4.855188	0.91355	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	1.8	0.491	0.16867	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8563	5.9476	0.19227	0.0:0.0:0.2671:0.7328	.	.	.	.	X	243;261;223	.	ENSP00000298232:R243X	R	-	1	2	TPTE	9963793	1.000000	0.71417	0.749000	0.31150	0.079000	0.17450	4.302000	0.59092	0.125000	0.18397	0.163000	0.16589	AGA	.		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	137710726	137710726	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:137710726G>A	ENST00000371817.3	+	56	4785	c.4371G>A	c.(4369-4371)ccG>ccA	p.P1457P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1457	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCCAGGCCCGGACGGTCCCC	0.627																																					p.P1457P		.											.	.	.	0			c.G4371A						.						51.0	50.0	50.0					9																	137710726		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon56			AGGCCCGGACGGT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4371G>A	9.37:g.137710726G>A		Somatic	80	0		WXS	Illumina HiSeq	.	15	11	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
DLD	1738	hgsc.bcm.edu;bcgsc.ca	37	7	107557754	107557754	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:107557754G>A	ENST00000205402.5	+	11	1364	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	DLD_ENST00000437604.2_Missense_Mutation_p.M313I|DLD_ENST00000537148.1_Missense_Mutation_p.M262I|DLD_ENST00000440410.1_Missense_Mutation_p.M338I	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	361					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	CTGGTCCAATGCTGGCTCACA	0.418																																					p.M361I		.											.	.	.	0			c.G1083A						.						250.0	209.0	223.0					7																	107557754		2203	4300	6503	SO:0001583	missense	1738	exon11			TCCAATGCTGGCT	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.1083G>A	7.37:g.107557754G>A	ENSP00000205402:p.Met361Ile	Somatic	54	0		WXS	Illumina HiSeq	.	40	4	NM_000108	B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	ENST00000205402.5	37	CCDS5749.1	.	.	.	.	.	.	.	.	.	.	G	33	5.253875	0.95336	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.70045	-0.22;-0.22;-0.31;-0.22;-0.45	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	H	0.96720	3.87	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.995	D;D;D	0.91635	0.999;0.991;0.995	D	0.91731	0.5396	10	0.87932	D	0	-7.3583	20.3151	0.98650	0.0:0.0:1.0:0.0	.	338;313;361	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	I	361;361;262;338;313;311	ENSP00000205402:M361I;ENSP00000390667:M361I;ENSP00000442399:M262I;ENSP00000417016:M338I;ENSP00000387542:M313I	ENSP00000205402:M361I	M	+	3	0	DLD	107344990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.809000	0.96659	0.467000	0.42956	ATG	.		0.418	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108	
AHRR	57491	hgsc.bcm.edu	37	5	434622	434622	+	Silent	SNP	C	C	T	rs370473413		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:434622C>T	ENST00000505113.1	+	11	1823	c.1779C>T	c.(1777-1779)caC>caT	p.H593H	AHRR_ENST00000506456.1_Silent_p.H449H|AHRR_ENST00000512529.1_Silent_p.H439H|AHRR_ENST00000316418.5_Silent_p.H611H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	593	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACCTGGGGCACGGCGTGCGGG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		19229	0.0		0.0	False		,,,				2504	0.001				p.H611H		.											AHRR,caecum,carcinoma,0,1	AHRR	0	0			c.C1833T						.						26.0	29.0	28.0					5																	434622		2092	4220	6312	SO:0001819	synonymous_variant	57491	exon12			GGGGCACGGCGTG	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1779C>T	5.37:g.434622C>T		Somatic	24	0		WXS	Illumina HiSeq	.	18	2	NM_020731	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	CCDS56355.1																																																																																			.		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731	
PRDM9	56979	hgsc.bcm.edu	37	5	23527220	23527220	+	Missense_Mutation	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:23527220T>C	ENST00000296682.3	+	11	2205	c.2023T>C	c.(2023-2025)Tgg>Cgg	p.W675R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	675					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.W675R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTAGCTGGCAGTCAGT	0.617										HNSCC(3;0.000094)																											p.W675R		.											PRDM9,trunk,malignant_melanoma,0,1	PRDM9	0	1	Substitution - Missense(1)	skin(1)	c.T2023C						.						15.0	15.0	15.0					5																	23527220		1338	3030	4368	SO:0001583	missense	56979	exon11			TTTAGCTGGCAGT	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2023T>C	5.37:g.23527220T>C	ENSP00000296682:p.Trp675Arg	Somatic	86	2		WXS	Illumina HiSeq	.	64	8	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.101450	0.00033	.	.	ENSG00000164256	ENST00000296682	T	0.13657	2.57	2.65	-5.31	0.02730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	130.374000	0.00166	N	0.000000	T	0.03011	0.0089	N	0.00450	-1.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34329	-0.9833	10	0.33940	T	0.23	.	0.8341	0.01136	0.2333:0.1458:0.3368:0.2842	.	675	Q9NQV7	PRDM9_HUMAN	R	675	ENSP00000296682:W675R	ENSP00000296682:W675R	W	+	1	0	PRDM9	23562977	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-11.157000	0.00004	-2.361000	0.00609	-5.757000	0.00000	TGG	.		0.617	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
MARCH1	55016	hgsc.bcm.edu	37	4	164466875	164466875	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:164466875G>T	ENST00000503008.1	-	7	1420	c.444C>A	c.(442-444)acC>acA	p.T148T	MARCH1_ENST00000514618.1_Silent_p.T404T|MARCH1_ENST00000339875.5_Silent_p.T131T|MARCH1_ENST00000274056.7_Silent_p.T148T	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	148					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T148T(2)|p.T131T(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTCACTTGTGGTCATCTGTA	0.423																																					p.T148T		.											MARCH1_ENST00000503008,NS,carcinoma,0,2	MARCH1_ENST00000503008	0	4	Substitution - coding silent(4)	lung(4)	c.C444A						.						246.0	192.0	210.0					4																	164466875		2203	4300	6503	SO:0001819	synonymous_variant	55016	exon7			ACTTGTGGTCATC	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.444C>A	4.37:g.164466875G>T		Somatic	57	0		WXS	Illumina HiSeq	.	51	3	NM_001166373	D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																			.		0.423	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
C19orf47	126526	hgsc.bcm.edu;bcgsc.ca	37	19	40847787	40847787	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:40847787C>T	ENST00000582783.1	-	2	101	c.89G>A	c.(88-90)aGc>aAc	p.S30N	Y_RNA_ENST00000384551.1_RNA|Y_RNA_ENST00000384198.1_RNA|C19orf47_ENST00000392035.2_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	30						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCTGACACTGCTCCCTGGAGC	0.602																																					p.S30N		.											.	.	.	0			c.G89A						.																																			SO:0001583	missense	126526	exon2			ACACTGCTCCCTG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.89G>A	19.37:g.40847787C>T	ENSP00000463159:p.Ser30Asn	Somatic	47	0		WXS	Illumina HiSeq	.	53	4	NM_001256440	Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	8.333	0.827005	0.16749	.	.	ENSG00000160392	ENST00000357884	.	.	.	4.86	2.7	0.31948	.	0.324485	0.29551	N	0.011839	T	0.42404	0.1201	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32640	-0.9899	8	0.41790	T	0.15	-20.3792	6.8388	0.23951	0.0:0.7888:0.0:0.2112	.	30	Q8N9M1	CS047_HUMAN	N	30	.	ENSP00000350556:S30N	S	-	2	0	C19orf47	45539627	0.969000	0.33509	1.000000	0.80357	0.338000	0.28826	0.839000	0.27586	1.159000	0.42565	0.484000	0.47621	AGC	.		0.602	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830	
HYOU1	10525	hgsc.bcm.edu	37	11	118926263	118926263	+	Missense_Mutation	SNP	G	G	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:118926263G>C	ENST00000404233.3	-	4	330	c.206C>G	c.(205-207)cCg>cGg	p.P69R	HYOU1_ENST00000543287.1_5'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.P69R|HYOU1_ENST00000529972.1_Missense_Mutation_p.P69R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	69					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.P69L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CACGATCACCGGTGTTTTCCT	0.517																																					p.P69R		.											HYOU1,scalp,carcinoma,0,1	HYOU1	0	1	Substitution - Missense(1)	skin(1)	c.C206G						.						98.0	98.0	98.0					11																	118926263		2200	4295	6495	SO:0001583	missense	10525	exon4			ATCACCGGTGTTT	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.206C>G	11.37:g.118926263G>C	ENSP00000384144:p.Pro69Arg	Somatic	16	0		WXS	Illumina HiSeq	.	12	2	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403075	0.83230	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000530473	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.999	T	0.55679	-0.8103	10	0.66056	D	0.02	-10.8711	18.8467	0.92210	0.0:0.0:1.0:0.0	.	113;69;69	B7Z2N4;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	R	69;60;69;69;69;69;112;69	ENSP00000384144:P69R;ENSP00000437313:P69R;ENSP00000433397:P69R;ENSP00000431874:P69R	ENSP00000278752:P60R	P	-	2	0	HYOU1	118431473	1.000000	0.71417	0.982000	0.44146	0.628000	0.37860	9.259000	0.95561	2.664000	0.90586	0.655000	0.94253	CCG	.		0.517	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
ICE1	23379	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	5463258	5463258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:5463258C>T	ENST00000296564.7	+	13	4033	c.3811C>T	c.(3811-3813)Caa>Taa	p.Q1271*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1271					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GCAAGAACTTCAAACAAATTC	0.348																																					p.Q1271X		.											.	.	.	0			c.C3811T						.						33.0	33.0	33.0					5																	5463258		1842	4092	5934	SO:0001587	stop_gained	23379	exon13			GAACTTCAAACAA																												ENST00000296564.7:c.3811C>T	5.37:g.5463258C>T	ENSP00000296564:p.Gln1271*	Somatic	77	0		WXS	Illumina HiSeq	.	48	17	NM_015325	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	43	10.303670	0.99379	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.1	0.806	0.18708	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.1221	14.2947	0.66304	0.0:0.3905:0.6095:0.0	.	.	.	.	X	1271	.	ENSP00000296564:Q1271X	Q	+	1	0	KIAA0947	5516258	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	0.084000	0.14891	0.131000	0.18576	0.305000	0.20034	CAA	.		0.348	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
LRRC7	57554	broad.mit.edu	37	1	70504282	70504282	+	Silent	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:70504282T>C	ENST00000035383.5	+	19	2691	c.2661T>C	c.(2659-2661)ccT>ccC	p.P887P	LRRC7_ENST00000310961.5_Silent_p.P892P|LRRC7_ENST00000415775.2_Silent_p.P171P	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	887						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TACCTAGTCCTTTTTCTCCAG	0.443																																					p.P887P													.	LRRC7	400	0			c.T2661C						.						73.0	76.0	75.0					1																	70504282		2203	4300	6503	SO:0001819	synonymous_variant	57554	exon19			TAGTCCTTTTTCT		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2661T>C	1.37:g.70504282T>C		Somatic	41	0		WXS	Illumina GAIIx	Phase_I	43	3	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																			.		0.443	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
ASPM	259266	broad.mit.edu	37	1	197115508	197115508	+	Silent	SNP	C	C	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:197115508C>G	ENST00000367409.4	-	1	316	c.60G>C	c.(58-60)ccG>ccC	p.P20P	ASPM_ENST00000294732.7_Silent_p.P20P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	20					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						gccccgcgggcggcctccgct	0.711																																					p.P20P													.	ASPM	444	0			c.G60C						.						9.0	13.0	12.0					1																	197115508		2033	4047	6080	SO:0001819	synonymous_variant	259266	exon1			CGCGGGCGGCCTC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.60G>C	1.37:g.197115508C>G		Somatic	29	1		WXS	Illumina GAIIx	Phase_I	26	3	NM_001206846	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.711	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																					.													.	.	.	0			.						.																																					0	.			CTCGCAATGCAAG			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G		Somatic	61	1		WXS	Illumina GAIIx	Phase_I	48	5	.		RNA	SNP	ENST00000494540.1	37																																																																																				A|1.000;|0.000		0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:43318571G>A	ENST00000374518.5	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393																																					p.M1046I													BMS1,NS,carcinoma,0,2	BMS1	132	1	Substitution - Missense(1)	endometrium(1)	c.G3138A						.						74.0	83.0	80.0					10																	43318571		2202	4297	6499	SO:0001583	missense	9790	exon20			GGGAATGTTTAAT	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3138G>A	10.37:g.43318571G>A	ENSP00000363642:p.Met1046Ile	Somatic	326	2		WXS	Illumina GAIIx	Phase_I	212	6	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485181	0.63962	.	.	ENSG00000165733	ENST00000374518	T	0.26957	1.7	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.86953	2.85	0.80722	D	1	B	0.14438	0.01	B	0.17433	0.018	T	0.48636	-0.9018	10	0.72032	D	0.01	.	17.7203	0.88349	0.0:0.0:1.0:0.0	.	1046	Q14692	BMS1_HUMAN	I	1046	ENSP00000363642:M1046I	ENSP00000363642:M1046I	M	+	3	0	BMS1	42638577	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.443000	0.97568	2.250000	0.74265	0.454000	0.30748	ATG	.		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
DMBT1P1	375940	broad.mit.edu	37	10	124516407	124516407	+	RNA	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr10:124516407G>A	ENST00000439464.2	+	0	198					NR_003570.1																						CCACTTTCGGGCAGGCTCTGG	0.627																																					.													.	.	.	0			.						.																																					0	.			TTTCGGGCAGGCT																													10.37:g.124516407G>A		Somatic	39	0		WXS	Illumina GAIIx	Phase_I	27	3	.		RNA	SNP	ENST00000439464.2	37																																																																																				.		0.627	RP11-318C4.2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471298.1		
MED19	219541	broad.mit.edu	37	11	57472100	57472100	+	Silent	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:57472100G>T	ENST00000337672.2	-	4	600	c.579C>A	c.(577-579)ccC>ccA	p.P193P	MED19_ENST00000431606.2_Intron	NM_153450.1	NP_703151.1	A0JLT2	MED19_HUMAN	mediator complex subunit 19	193	Lys-rich.					mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						GAACTTAACTGGGTTTACCTA	0.423																																					p.P193P													.	MED19	15	0			c.C579A						.						82.0	83.0	82.0					11																	57472100		2201	4296	6497	SO:0001819	synonymous_variant	219541	exon4			TTAACTGGGTTTA	AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000337672.2:c.579C>A	11.37:g.57472100G>T		Somatic	79	0		WXS	Illumina GAIIx	Phase_I	47	4	NM_153450	Q8IV02|Q8IZD1	Silent	SNP	ENST00000337672.2	37	CCDS7966.1																																																																																			.		0.423	MED19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393701.1	NM_153450	
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96514999	+	lincRNA	DEL	A	A	-	rs67317023|rs149392521		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:96514999delA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaa	0.368																																					.													.	.	.	0			.						.																																					0	.			GTTATTAAAAAAA																													11.37:g.96514999delA		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	6	2	.		RNA	DEL	ENST00000527528.1	37																																																																																				.		0.368	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1		
CFAP54	144535	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	97041772	97041772	+	Missense_Mutation	SNP	A	A	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr12:97041772A>C	ENST00000524981.4	+	34	4690	c.4667A>C	c.(4666-4668)aAa>aCa	p.K1556T				Q96N23	CL055_HUMAN		0																	ACAGCCAAAAAAAGAAAGGCC	0.294																																					.													.	.	.	0			.						.																																			SO:0001583	missense	0	.			CCAAAAAAAGAAA																												ENST00000524981.4:c.4667A>C	12.37:g.97041772A>C	ENSP00000431759:p.Lys1556Thr	Somatic	72	0		WXS	Illumina GAIIx	Phase_I	58	22	.		Missense_Mutation	SNP	ENST00000524981.4	37		.	.	.	.	.	.	.	.	.	.	A	7.341	0.620931	0.14193	.	.	ENSG00000188596	ENST00000524981	.	.	.	5.69	0.391	0.16282	.	.	.	.	.	T	0.17323	0.0416	N	0.22421	0.69	0.19300	N	0.999975	.	.	.	.	.	.	T	0.23797	-1.0178	6	0.11794	T	0.64	.	1.6603	0.02790	0.5076:0.1315:0.2334:0.1275	.	.	.	.	T	1556	.	ENSP00000431759:K1556T	K	+	2	0	C12orf63	95565903	1.000000	0.71417	0.213000	0.23690	0.123000	0.20343	1.163000	0.31798	0.438000	0.26450	0.477000	0.44152	AAA	.		0.294	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		
SNHG23	100507242	broad.mit.edu	37	14	101420763	101420763	+	lincRNA	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr14:101420763G>T	ENST00000556637.1	+	0	0				SNORD114-2_ENST00000363953.1_RNA|SNORD114-4_ENST00000363962.1_RNA|SNORD114-6_ENST00000364393.1_RNA|SNORD113_ENST00000363280.1_RNA|SNORD114-5_ENST00000362928.1_RNA|SNORD114-3_ENST00000364969.1_RNA																							TGAATAATGTGTGTCTAGAAC	0.363																																					.													.	.	.	0			.						.						69.0	66.0	67.0					14																	101420763		876	1991	2867			0	.			TAATGTGTGTCTA																													14.37:g.101420763G>T		Somatic	140	0		WXS	Illumina GAIIx	Phase_I	60	3	.		RNA	SNP	ENST00000556637.1	37																																																																																				.		0.363	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1		
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522																																					.													RP13-996F3.4_ENST00000557886,NS,carcinoma,0,14	.	.	4	Substitution - Missense(4)	kidney(4)	.						.																																			SO:0001583	missense	0	.			GGGGCTCTGGGGC																												ENST00000557886.1:c.451G>C	15.37:g.83014132C>G	ENSP00000452844:p.Glu151Gln	Somatic	98	1		WXS	Illumina GAIIx	Phase_I	95	6	.		Missense_Mutation	SNP	ENST00000557886.1	37																																																																																				.		0.522	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
TCF25	22980	broad.mit.edu	37	16	89980314	89980315	+	IGR	DEL	TG	TG	-			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr16:89980314_89980315delTG	ENST00000263346.8	+	0	2233				MC1R_ENST00000555427.1_De_novo_Start_InFrame|RP11-566K11.7_ENST00000570217.1_RNA	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)						heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		ATTGAGCAGAtgtgtgtgtgtg	0.594																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	4157	.			AGCAGATGTGTGT	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986		16.37:g.89980324_89980325delTG		Somatic	8	0		WXS	Illumina GAIIx	Phase_I	6	1	.	Q2MK75|Q9UPV3	Translation_Start_Site	DEL	ENST00000263346.8	37	CCDS10987.1																																																																																			.		0.594	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972	
KRT16P3	644945	broad.mit.edu	37	17	20407759	20407759	+	lincRNA	SNP	G	G	C	rs542356026	byFrequency	TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:20407759G>C	ENST00000587907.1	-	0	3038				KRT16P3_ENST00000580113.1_RNA																							GGAGGTGAGCGAGCGAGCAGT	0.597																																					.													.	.	.	0			.						.																																					0	.			GTGAGCGAGCGAG																													17.37:g.20407759G>C		Somatic	183	0		WXS	Illumina GAIIx	Phase_I	126	28	.		RNA	SNP	ENST00000587907.1	37																																																																																				.		0.597	RP11-434D2.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443765.1		
RYR1	6261	broad.mit.edu	37	19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:38995497A>G	ENST00000359596.3	+	51	8177	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_ENST00000355481.4_Missense_Mutation_p.K2726R|RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2726	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGAGAAAAAGGCCACAGTG	0.597																																					p.K2726R													.	RYR1	708	0			c.A8177G						.						61.0	57.0	58.0					19																	38995497		2203	4300	6503	SO:0001583	missense	6261	exon51			AGAAAAAGGCCAC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8177A>G	19.37:g.38995497A>G	ENSP00000352608:p.Lys2726Arg	Somatic	70	0		WXS	Illumina GAIIx	Phase_I	44	3	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651448	0.47362	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96913	-4.17;-4.17;-4.17	3.66	2.62	0.31277	.	0.000000	0.64402	U	0.000002	D	0.91543	0.7329	L	0.32530	0.975	0.33450	D	0.583509	B;B	0.33807	0.426;0.3	B;B	0.32090	0.14;0.066	D	0.90938	0.4795	10	0.45353	T	0.12	.	8.8866	0.35406	0.8318:0.0:0.0:0.1682	.	2726;2726	P21817-2;P21817	.;RYR1_HUMAN	R	2726	ENSP00000352608:K2726R;ENSP00000347667:K2726R;ENSP00000354254:K2726R	ENSP00000347667:K2726R	K	+	2	0	RYR1	43687337	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	7.195000	0.77798	0.732000	0.32470	0.402000	0.26972	AAG	.		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																					p.710_711del													.	SLC8A2	77	0			c.2130_2132del						.																																			SO:0001651	inframe_deletion	6543	exon9			GACCCGTCCTCCT	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del	Somatic	14	0		WXS	Illumina GAIIx	Phase_I	12	4	NM_015063	B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	CCDS33065.1																																																																																			.		0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1		
REG3G	130120	broad.mit.edu;ucsc.edu	37	2	79253292	79253292	+	Missense_Mutation	SNP	C	C	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:79253292C>A	ENST00000272324.5	+	2	257	c.73C>A	c.(73-75)Caa>Aaa	p.Q25K	REG3G_ENST00000409471.1_Missense_Mutation_p.Q25K|REG3G_ENST00000393897.2_Missense_Mutation_p.Q25K	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	25					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTCAGGTTCAAGGTGAGAT	0.547																																					p.Q25K													.	REG3G	67	0			c.C73A						.						204.0	157.0	173.0					2																	79253292		2203	4300	6503	SO:0001583	missense	130120	exon2			CAGGTTCAAGGTG	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.73C>A	2.37:g.79253292C>A	ENSP00000272324:p.Gln25Lys	Somatic	41	1		WXS	Illumina GAIIx	Phase_I	15	4	NM_198448	A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	9.366	1.069308	0.20147	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.27;4.27;2.34	4.49	4.49	0.54785	.	0.410282	0.18473	N	0.140167	T	0.16041	0.0386	L	0.59912	1.85	0.22066	N	0.999382	B;P	0.42908	0.004;0.793	B;B	0.34779	0.009;0.189	T	0.18745	-1.0327	10	0.27785	T	0.31	.	13.007	0.58710	0.0:1.0:0.0:0.0	.	25;25	Q3SYE6;Q6UW15	.;REG3G_HUMAN	K	25	ENSP00000377475:Q25K;ENSP00000272324:Q25K;ENSP00000387105:Q25K	ENSP00000272324:Q25K	Q	+	1	0	REG3G	79106800	0.978000	0.34361	0.895000	0.35142	0.011000	0.07611	3.201000	0.51059	2.779000	0.95612	0.637000	0.83480	CAA	.		0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448	
RANBP2	5903	broad.mit.edu	37	2	109367844	109367844	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:109367844T>G	ENST00000283195.6	+	10	1524	c.1398T>G	c.(1396-1398)caT>caG	p.H466Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	466					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H466Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTGCCCCATGAAACCTCAA	0.358																																					p.H466Q													RANBP2_ENST00000283195,NS,carcinoma,0,6	RANBP2	488	6	Substitution - Missense(6)	endometrium(6)	c.T1398G						.						69.0	78.0	75.0					2																	109367844		1510	2703	4213	SO:0001583	missense	5903	exon10			GCCCCATGAAACC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1398T>G	2.37:g.109367844T>G	ENSP00000283195:p.His466Gln	Somatic	570	1		WXS	Illumina GAIIx	Phase_I	370	5	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387877	0.04932	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.25	2.44	0.29823	.	.	.	.	.	T	0.43545	0.1252	N	0.00197	-1.87	0.20563	N	0.999888	B	0.02656	0.0	B	0.01281	0.0	T	0.50039	-0.8874	9	0.02654	T	1	-0.0972	5.4961	0.16804	0.3195:0.0:0.5396:0.1409	.	466	P49792	RBP2_HUMAN	Q	466	ENSP00000283195:H466Q	ENSP00000283195:H466Q	H	+	3	2	RANBP2	108734276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.307000	0.43682	0.319000	0.23209	-0.127000	0.14921	CAT	.		0.358	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
PCSK2	5126	broad.mit.edu	37	20	17462329	17462329	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:17462329A>G	ENST00000262545.2	+	12	1846	c.1531A>G	c.(1531-1533)Atc>Gtc	p.I511V	PCSK2_ENST00000536609.1_Missense_Mutation_p.I476V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.I492V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	511					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCAGGCTGTCATCACGGTCAA	0.532																																					p.I511V													PCSK2,NS,carcinoma,0,1	PCSK2	112	0			c.A1531G						.						126.0	98.0	108.0					20																	17462329		2203	4300	6503	SO:0001583	missense	5126	exon12			GCTGTCATCACGG	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1531A>G	20.37:g.17462329A>G	ENSP00000262545:p.Ile511Val	Somatic	99	0		WXS	Illumina GAIIx	Phase_I	50	3	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.552982	0.27739	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.73469	-0.75;-0.75;-0.75	5.93	4.78	0.61160	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.088947	0.85682	N	0.000000	T	0.49133	0.1539	N	0.02865	-0.47	0.58432	D	0.999994	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.19666	0.006;0.026;0.014	T	0.35919	-0.9769	10	0.18710	T	0.47	-30.8748	10.6246	0.45500	0.9201:0.0:0.0799:0.0	.	476;492;511	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	V	492;511;476	ENSP00000367131:I492V;ENSP00000262545:I511V;ENSP00000437458:I476V	ENSP00000262545:I511V	I	+	1	0	PCSK2	17410329	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.487000	0.60293	0.986000	0.38683	0.477000	0.44152	ATC	.		0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
DBNDD2	55861	broad.mit.edu	37	20	44035225	44035225	+	Missense_Mutation	SNP	T	T	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:44035225T>G	ENST00000372720.3	+	1	365	c.134T>G	c.(133-135)cTt>cGt	p.L45R	DBNDD2_ENST00000372722.3_Intron|DBNDD2_ENST00000360981.4_5'Flank|DBNDD2_ENST00000372723.3_Intron|DBNDD2_ENST00000372710.3_5'Flank|SYS1-DBNDD2_ENST00000475242.1_Intron|DBNDD2_ENST00000357275.2_Intron|DBNDD2_ENST00000372717.1_5'Flank|DBNDD2_ENST00000372712.2_5'Flank|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_Intron	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	45					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTCCCGCCTCTTCCTCGTTCC	0.801																																					p.L45R													.	DBNDD2	30	0			c.T134G						.																																			SO:0001583	missense	55861	exon1			CGCCTCTTCCTCG	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.134T>G	20.37:g.44035225T>G	ENSP00000361805:p.Leu45Arg	Somatic	9	0		WXS	Illumina GAIIx	Phase_I	12	8	NM_018478	Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	CCDS56193.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973701	0.74246	.	.	ENSG00000244274	ENST00000372720	T	0.46451	0.87	3.71	1.28	0.21552	.	.	.	.	.	T	0.27629	0.0679	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.03957	-1.0989	7	0.27785	T	0.31	.	5.8987	0.18953	0.0:0.3898:0.0:0.6102	.	.	.	.	R	45	ENSP00000361805:L45R	ENSP00000361805:L45R	L	+	2	0	DBNDD2	43468639	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.298000	0.19120	0.158000	0.19367	0.374000	0.22700	CTT	.		0.801	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478	
LINC00969	440993	broad.mit.edu	37	3	195412436	195412440	+	lincRNA	DEL	AAAGC	AAAGC	-	rs200034737|rs201662460		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:195412436_195412440delAAAGC	ENST00000445430.1	+	0	3633_3637									long intergenic non-protein coding RNA 969																		gcatttttgtaaagcaaagcactga	0.4																																					.													.	.	.	0			.						.																																					0	.			TTTTGTAAAGCAA	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195412441_195412445delAAAGC		Somatic	22	0		WXS	Illumina GAIIx	Phase_I	10	5	.		RNA	DEL	ENST00000445430.1	37																																																																																				AAAGC|0.500;-|0.500		0.400	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
OR5H8	79289	broad.mit.edu	37	3	98031434	98031434	+	lincRNA	DEL	A	A	-			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:98031434delA	ENST00000508616.1	+	0	149				OR5H8P_ENST00000394191.2_RNA																							TTACAATCTTAAAAAAAAAAG	0.333																																					.													.	.	.	0			.						.																																					0	.			AATCTTAAAAAAA																													3.37:g.98031434delA		Somatic	21	0		WXS	Illumina GAIIx	Phase_I	6	2	.		RNA	DEL	ENST00000508616.1	37																																																																																				.		0.333	RP11-325B23.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359282.1		
GRK4	2868	broad.mit.edu	37	4	2965777	2965779	+	5'UTR	DEL	CGG	CGG	-	rs376025838|rs369377593		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr4:2965777_2965779delCGG	ENST00000398052.4	+	0	323_325				GRK4_ENST00000504933.1_5'UTR|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_5'Flank|GRK4_ENST00000503518.2_5'UTR|GRK4_ENST00000345167.6_5'UTR|GRK4_ENST00000442472.2_In_Frame_Del_p.A27del|NOP14_ENST00000398071.4_5'Flank|NOP14_ENST00000502735.1_5'Flank|GRK4_ENST00000398051.4_5'UTR|NOP14_ENST00000314262.6_5'Flank	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4						G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGAATCCGCCGGCGGCGGCGGC	0.714																																					.													.	GRK4	72	0			.						.																																			SO:0001623	5_prime_UTR_variant	2868	.			ATCCGCCGGCGGC		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.-19CGG>-	4.37:g.2965786_2965788delCGG		Somatic	16	0		WXS	Illumina GAIIx	Phase_I	6	2	.	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	In_Frame_Del	DEL	ENST00000398052.4	37	CCDS33946.1																																																																																			.		0.714	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307	
SMAD5	4090	broad.mit.edu;ucsc.edu	37	5	135498966	135498966	+	Missense_Mutation	SNP	A	A	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:135498966A>T	ENST00000545279.1	+	5	1021	c.661A>T	c.(661-663)Acg>Tcg	p.T221S	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.T221S	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	221					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTAGCTGATACGCCTCCTCC	0.358																																					.													.	SMAD5	30	0			.						.						98.0	93.0	95.0					5																	135498966		1932	4154	6086	SO:0001583	missense	4090	.			GCTGATACGCCTC	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.661A>T	5.37:g.135498966A>T	ENSP00000441954:p.Thr221Ser	Somatic	33	0		WXS	Illumina GAIIx	Phase_I	34	12	.	O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	ENST00000545279.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.528506|4.528506	0.85706|0.85706	.|.	.|.	ENSG00000113658|ENSG00000113658	ENST00000545279;ENST00000545620|ENST00000507637	D;D|.	0.92495|.	-3.05;-3.05|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.095677|.	0.64402|.	D|.	0.000001|.	T|T	0.63768|0.63768	0.2539|0.2539	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	B|.	0.31949|.	0.348|.	B|.	0.35413|.	0.202|.	T|T	0.59878|0.59878	-0.7371|-0.7371	10|5	0.34782|.	T|.	0.22|.	.|.	16.5885|16.5885	0.84745|0.84745	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	221|.	F5GWU7|.	.|.	S|F	221|43	ENSP00000441954:T221S;ENSP00000446474:T221S|.	ENSP00000425018:T221S|.	T|Y	+|+	1|2	0|0	SMAD5|SMAD5	135526865|135526865	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.817000|0.817000	0.46193|0.46193	8.679000|8.679000	0.91220|0.91220	2.317000|2.317000	0.78254|0.78254	0.460000|0.460000	0.39030|0.39030	ACG|TAC	.		0.358	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903	
TYW1B	441250	broad.mit.edu	37	7	72040313	72040313	+	RNA	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:72040313C>T	ENST00000435769.2	-	0	2300				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GTGGCCCAGGCCCTCTGAGTG	0.458																																					.													.	.	.	0			.						.																																					441250	.			CCCAGGCCCTCTG	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72040313C>T		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	6	4	.	A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																				.		0.458	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440	
SDR16C6P	442388	broad.mit.edu;ucsc.edu	37	8	57295125	57295125	+	RNA	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:57295125A>G	ENST00000517787.1	-	0	250					NR_103832.1				short chain dehydrogenase/reductase family 16C, member 6, pseudogene																		TACTTGAAATACAAACCAGGT	0.373																																					.													.	.	.	0			.						.						122.0	102.0	108.0					8																	57295125		692	1591	2283			0	.			TGAAATACAAACC			8q12.1	2011-09-20	2010-12-20	2010-12-20	ENSG00000253542	ENSG00000253542		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	35413	pseudogene	pseudogene			"""short chain dehydrogenase/reductase family 16C, member 6"""	SDR16C6		19027726	Standard	NR_103832		Approved				OTTHUMG00000164408		8.37:g.57295125A>G		Somatic	115	0		WXS	Illumina GAIIx	Phase_I	66	17	.		RNA	SNP	ENST00000517787.1	37																																																																																				.		0.373	SDR16C6P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378641.3		
CACFD1	11094	broad.mit.edu	37	9	136325237	136325237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:136325237delC	ENST00000316948.4	+	1	129	c.49delC	c.(49-51)cccfs	p.P17fs	CACFD1_ENST00000291722.7_Frame_Shift_Del_p.P17fs|CACFD1_ENST00000542192.1_Frame_Shift_Del_p.P17fs|CACFD1_ENST00000540581.1_Frame_Shift_Del_p.P17fs|CACFD1_ENST00000489519.1_3'UTR	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	17					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										CTCTGCGCCGCCCGCGCAGGA	0.706																																					p.P17fs													.	CACFD1	1	0			c.49delC						.						19.0	22.0	21.0					9																	136325237		2134	4222	6356	SO:0001589	frameshift_variant	11094	exon1			GCGCCGCCCGCGC		CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"""chromosome 9 open reading frame 7"""	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.49delC	9.37:g.136325237delC	ENSP00000317121:p.Pro17fs	Somatic	15	0		WXS	Illumina GAIIx	Phase_I	5	2	NM_001242370	B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Frame_Shift_Del	DEL	ENST00000316948.4	37	CCDS6974.1																																																																																			.		0.706	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586	
GRM6	2916	ucsc.edu	37	5	178413508	178413508	+	Missense_Mutation	SNP	A	A	G			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:178413508A>G	ENST00000517717.1	-	9	1785	c.1747T>C	c.(1747-1749)Tcc>Ccc	p.S583P	GRM6_ENST00000231188.5_Missense_Mutation_p.S583P|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	583					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GCCCAGGGGGAGGACCAGCTC	0.692																																					p.S583P													.	GRM6	149	0			c.T1747C						.						14.0	16.0	16.0					5																	178413508		2195	4291	6486	SO:0001583	missense	2916	exon8			AGGGGGAGGACCA	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1747T>C	5.37:g.178413508A>G	ENSP00000430767:p.Ser583Pro	Somatic	29	3		WXS	Illumina HiSeq		40	6	NM_000843		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307509	0.81247	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89552	-2.53;-2.53	4.97	4.97	0.65823	.	.	.	.	.	D	0.94538	0.8241	M	0.86651	2.83	0.53688	D	0.999977	D;D	0.63046	0.992;0.989	D;P	0.73380	0.98;0.881	D	0.95106	0.8234	9	0.66056	D	0.02	.	12.902	0.58130	1.0:0.0:0.0:0.0	.	739;583	E7EX65;O15303	.;GRM6_HUMAN	P	739;583;583	ENSP00000231188:S583P;ENSP00000430767:S583P	ENSP00000231188:S583P	S	-	1	0	GRM6	178346114	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.294000	0.78760	1.992000	0.58205	0.379000	0.24179	TCC	.		0.692	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
CA9	768	ucsc.edu;bcgsc.ca	37	9	35676345	35676345	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr9:35676345G>T	ENST00000378357.4	+	5	903	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	267	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	CGAGGCCTTGGGGCGCCCGGG	0.652																																					p.G267W													.	CA9	48	0			c.G799T						.						120.0	125.0	123.0					9																	35676345		2203	4300	6503	SO:0001583	missense	768	exon5			GCCTTGGGGCGCC	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.799G>T	9.37:g.35676345G>T	ENSP00000367608:p.Gly267Trp	Somatic	58	0		WXS	Illumina HiSeq		27	4	NM_001216	Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145725	0.57044	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.67698	-0.28	4.85	4.85	0.62838	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.082725	0.49916	D	0.000139	T	0.82093	0.4962	M	0.82517	2.595	0.46011	D	0.998816	D;D	0.89917	1.0;1.0	D;D	0.87578	0.984;0.998	D	0.84399	0.0559	10	0.87932	D	0	.	13.6467	0.62286	0.0:0.0:1.0:0.0	.	267;267	F5H404;Q16790	.;CAH9_HUMAN	W	267	ENSP00000367608:G267W	ENSP00000367608:G267W	G	+	1	0	CA9	35666345	0.998000	0.40836	0.999000	0.59377	0.019000	0.09904	1.782000	0.38654	2.676000	0.91093	0.655000	0.94253	GGG	.		0.652	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216	
CLNS1A	1207	ucsc.edu	37	11	77336767	77336767	+	Nonsense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr11:77336767G>T	ENST00000525428.1	-	3	449	c.359C>A	c.(358-360)tCa>tAa	p.S120*	CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000528364.1_Nonsense_Mutation_p.S120*|CLNS1A_ENST00000525064.1_Nonsense_Mutation_p.S120*	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	120					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTCACACGCTGATTTATCACT	0.398																																					p.S120X													.	CLNS1A	18	0			c.C359A						.						124.0	101.0	109.0					11																	77336767		2200	4292	6492	SO:0001587	stop_gained	1207	exon3			CACGCTGATTTAT	U17899	CCDS8252.1	11q13.5-q14	2008-05-02							2080	protein-coding gene	gene with protein product		602158		CLCI		7887970, 8975725	Standard	NM_001293		Approved	ICln	uc001oyk.3	P54105		ENST00000525428.1:c.359C>A	11.37:g.77336767G>T	ENSP00000433919:p.Ser120*	Somatic	49	0		WXS	Illumina HiSeq		25	4	NM_001293	B2RCS9|Q0VDK6|Q9NRD2|Q9NRD3	Nonsense_Mutation	SNP	ENST00000525428.1	37	CCDS8252.1	.	.	.	.	.	.	.	.	.	.	G	36	5.598396	0.96614	.	.	ENSG00000074201	ENST00000525428;ENST00000525064;ENST00000528364	.	.	.	5.09	4.18	0.49190	.	0.273829	0.35677	N	0.003055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9051	13.872	0.63624	0.0741:0.0:0.9259:0.0	.	.	.	.	X	120	.	ENSP00000433741:S120X	S	-	2	0	CLNS1A	77014415	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.820000	0.69250	1.303000	0.44873	-0.384000	0.06662	TCA	.		0.398	CLNS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382156.2	NM_001293	
USP8	9101	ucsc.edu	37	15	50785054	50785054	+	Silent	SNP	C	C	T	rs199814360		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr15:50785054C>T	ENST00000396444.3	+	15	2729	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	USP8_ENST00000425032.3_Silent_p.N691N|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.N797N|USP8_ENST00000433963.1_Silent_p.N797N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	797	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCCTATGTAACGCTCCACATT	0.363																																					p.N797N													.	USP8	90	0			c.C2391T						.						105.0	96.0	99.0					15																	50785054		2196	4293	6489	SO:0001819	synonymous_variant	9101	exon15			ATGTAACGCTCCA	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2391C>T	15.37:g.50785054C>T		Somatic	56	4		WXS	Illumina HiSeq		36	4	NM_001128610	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																			.		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
ADIG	149685	ucsc.edu	37	20	37216803	37216803	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr20:37216803G>T	ENST00000537425.1	+	3	355	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001018082.1	NP_001018092.1			adipogenin											endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GGAGAGACTTGCCAGGGAGGC	0.552																																					.													.	ADIG	16	0			.						.																																			SO:0001583	missense	149685	.			AGACTTGCCAGGG	BC029594	CCDS54461.1	20q11.23	2014-02-12	2007-03-29		ENSG00000182035	ENSG00000182035			28606	protein-coding gene	gene with protein product	"""small adipocyte factor 1"""	611396	"""adipogenesis associated"""			15567149, 16132694	Standard	NM_001018082		Approved	MGC39724, SMAF1, RP5-1100H13.2	uc002xjb.1	Q0VDE8	OTTHUMG00000032451	ENST00000537425.1:c.284G>T	20.37:g.37216803G>T	ENSP00000440331:p.Cys95Phe	Somatic	97	21		WXS	Illumina HiSeq		60	17	.		Missense_Mutation	SNP	ENST00000537425.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.275|9.275	1.046668|1.046668	0.19748|0.19748	.|.	.|.	ENSG00000182035|ENSG00000182035	ENST00000416116|ENST00000537425	.|.	.|.	.|.	3.33|3.33	-2.72|-2.72	0.05968|0.05968	.|.	.|.	.|.	.|.	.|.	T|T	0.34454|0.34454	0.0898|0.0898	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42137|0.42137	-0.9469|-0.9469	4|5	.|0.87932	.|D	.|0	-0.1127|-0.1127	3.7722|3.7722	0.08646|0.08646	0.5315:0.0:0.2844:0.1841|0.5315:0.0:0.2844:0.1841	.|.	.|.	.|.	.|.	S|F	82|95	.|.	.|ENSP00000440331:C95F	A|C	+|+	1|2	0|0	ADIG|ADIG	36650217|36650217	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.016000|0.016000	0.09150|0.09150	-2.248000|-2.248000	0.01189|0.01189	-0.548000|-0.548000	0.06199|0.06199	0.467000|0.467000	0.42956|0.42956	GCC|TGC	.		0.552	ADIG-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001018082	
SEC16B	89866	bcgsc.ca	37	1	177917032	177917032	+	Missense_Mutation	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr1:177917032C>T	ENST00000308284.6	-	13	1680	c.1591G>A	c.(1591-1593)Gtg>Atg	p.V531M	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.V532M	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	531					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GACAGAATCACAGCCAAGTGA	0.507																																					p.V531M													.	SEC16B	92	0			c.G1591A						.						45.0	49.0	48.0					1																	177917032		1984	4112	6096	SO:0001583	missense	89866	exon13			GAATCACAGCCAA	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1591G>A	1.37:g.177917032C>T	ENSP00000308339:p.Val531Met	Somatic	52	0		WXS	Illumina HiSeq	Phase_1	46	4	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.35|15.35	2.808946|2.808946	0.50421|0.50421	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000527976|ENST00000308284;ENST00000414025;ENST00000239472;ENST00000464631	.|T;T	.|0.39787	.|2.72;1.06	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.44871|0.44871	0.1314|0.1314	N|N	0.13198|0.13198	0.31|0.31	0.47123|0.47123	D|D	0.999325|0.999325	.|P;D;D;B;P	.|0.89917	.|0.722;0.986;1.0;0.288;0.871	.|P;D;D;P;P	.|0.97110	.|0.515;0.929;1.0;0.515;0.886	T|T	0.18650|0.18650	-1.0330|-1.0330	5|10	.|0.02654	.|T	.|1	-20.3805|-20.3805	19.0314|19.0314	0.92959|0.92959	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|86;532;532;531;228	.|B1AM07;E9PK14;B1AM08;Q96JE7;Q96PW0	.|.;.;.;SC16B_HUMAN;.	Y|M	114|531;215;246;532	.|ENSP00000308339:V531M;ENSP00000431727:V532M	.|ENSP00000239472:V246M	C|V	-|-	2|1	0|0	AL359075.1|AL359075.1	176183655|176183655	0.950000|0.950000	0.32346|0.32346	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	2.026000|2.026000	0.41069|0.41069	2.582000|2.582000	0.87167|0.87167	0.557000|0.557000	0.71058|0.71058	TGT|GTG	.		0.507	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
OR7E102P	400984	bcgsc.ca	37	2	96212978	96212978	+	IGR	SNP	T	T	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	T	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:96212978T>C								RP11-440D17.4 (8761 upstream) : TRIM43 (44787 downstream)																							TCAGGGATCCTTTTGTCTTAC	0.398																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			GGATCCTTTTGTC																													2.37:g.96212978T>C		Somatic	90	0		WXS	Illumina HiSeq	Phase_1	78	4	.		RNA	SNP		37																																																																																				.	0	0.398								
LRP1B	53353	bcgsc.ca	37	2	141528562	141528562	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:141528562G>A	ENST00000389484.3	-	34	6485	c.5514C>T	c.(5512-5514)tgC>tgT	p.C1838C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1838	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTTTAGTTGGCAGGAATTGC	0.308										TSP Lung(27;0.18)																											p.C1838C	Colon(99;50 2074 2507 20106)												.	LRP1B	1315	0			c.C5514T						.						120.0	114.0	116.0					2																	141528562		2203	4300	6503	SO:0001819	synonymous_variant	53353	exon34			TAGTTGGCAGGAA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5514C>T	2.37:g.141528562G>A		Somatic	145	0		WXS	Illumina HiSeq	Phase_1	65	4	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																			.		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
FN1	2335	bcgsc.ca	37	2	216242924	216242924	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:216242924G>T	ENST00000359671.1	-	34	5676	c.5411C>A	c.(5410-5412)gCt>gAt	p.A1804D	FN1_ENST00000446046.1_Missense_Mutation_p.A1804D|FN1_ENST00000356005.4_Missense_Mutation_p.A1714D|FN1_ENST00000357009.2_Missense_Mutation_p.A1804D|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000354785.4_Missense_Mutation_p.A1895D|FN1_ENST00000323926.6_Missense_Mutation_p.A1895D|FN1_ENST00000432072.2_Missense_Mutation_p.A1805D|FN1_ENST00000346544.3_Missense_Mutation_p.A1804D|FN1_ENST00000421182.1_Missense_Mutation_p.A1714D|FN1_ENST00000345488.5_Missense_Mutation_p.A1804D|FN1_ENST00000357867.4_Missense_Mutation_p.A1714D|FN1_ENST00000443816.1_Missense_Mutation_p.A1714D|FN1_ENST00000336916.4_Missense_Mutation_p.A1804D			P02751	FINC_HUMAN	fibronectin 1	1804	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AACTCCCTGAGCTGGTCTGCT	0.423																																					p.A1895D													.	FN1	521	0			c.C5684A						.						148.0	127.0	134.0					2																	216242924		2203	4300	6503	SO:0001583	missense	2335	exon35			CCCTGAGCTGGTC		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5411C>A	2.37:g.216242924G>T	ENSP00000352696:p.Ala1804Asp	Somatic	52	0		WXS	Illumina HiSeq	Phase_1	35	3	NM_212482	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	G	20.5	4.007967	0.75046	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;3.54;0.57;0.57;3.54;0.57;3.54;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.47	3.66	0.41972	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.403220	0.23567	N	0.046782	T	0.69806	0.3152	M	0.77103	2.36	0.22330	N	0.999196	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.997;0.999;1.0;1.0;0.998;0.999;1.0;1.0;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.944;0.945;0.973;0.981;0.981;0.917;0.991;0.981;0.981;0.978;0.976	T	0.61367	-0.7077	10	0.72032	D	0.01	.	9.6072	0.39641	0.2154:0.0:0.7846:0.0	.	1804;1805;1895;1714;1714;1804;1804;1805;1714;1714;1895;1804	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	D	1714;1895;1804;1714;1895;1805;1804;1804;1804;1804;1804;1714;1805;1714;521	ENSP00000394423:A1714D;ENSP00000323534:A1895D;ENSP00000338200:A1804D;ENSP00000350534:A1714D;ENSP00000346839:A1895D;ENSP00000352696:A1804D;ENSP00000265312:A1804D;ENSP00000273049:A1804D;ENSP00000349509:A1804D;ENSP00000410422:A1804D;ENSP00000415018:A1714D;ENSP00000399538:A1805D;ENSP00000348285:A1714D;ENSP00000416139:A521D	ENSP00000265313:A1805D	A	-	2	0	FN1	215951169	0.971000	0.33674	0.988000	0.46212	0.999000	0.98932	2.050000	0.41297	0.667000	0.31107	0.650000	0.86243	GCT	.		0.423	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
MYLKP1	9430	bcgsc.ca	37	3	75385329	75385329	+	IGR	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:75385329G>T								MIR4444-1 (121629 upstream) : AC117481.1 (9960 downstream)																							TCATTCTGAAGCACCTCGAAG	0.567																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	9430	.			TCTGAAGCACCTC																													3.37:g.75385329G>T		Somatic	70	0		WXS	Illumina HiSeq	Phase_1	27	4	.		RNA	SNP		37																																																																																				.	0	0.567								
MYLK	4638	bcgsc.ca	37	3	123339082	123339082	+	Silent	SNP	C	C	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr3:123339082C>T	ENST00000475616.1	-	29	5339	c.5340G>A	c.(5338-5340)ccG>ccA	p.P1780P	MYLK_ENST00000359169.1_Silent_p.P1729P|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000583087.1_Silent_p.P20P|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360772.3_Silent_p.P1729P|MYLK_ENST00000360304.3_Silent_p.P1780P|MYLK_ENST00000354792.5_Silent_p.P580P|MYLK_ENST00000346322.5_Silent_p.P1711P|MYLK_ENST00000418370.2_Silent_p.P20P|MYLK_ENST00000578202.1_Silent_p.P20P			Q15746	MYLK_HUMAN	myosin light chain kinase	1780					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCATTGAGCGGGCTGGTTG	0.502																																					p.P1780P													.	MYLK	224	0			c.G5340A						.						176.0	176.0	176.0					3																	123339082		2203	4300	6503	SO:0001819	synonymous_variant	4638	exon32			ATTGAGCGGGCTG	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5340G>A	3.37:g.123339082C>T		Somatic	101	0		WXS	Illumina HiSeq	Phase_1	49	4	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																			.		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
Unknown	0	bcgsc.ca	37	5	105751501	105751501	+	IGR	SNP	G	G	C			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr5:105751501G>C								RNA5SP189 (492692 upstream) : SNORA31 (130864 downstream)																							TCATCCATAGGATGGGGTTGC	0.453																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			CCATAGGATGGGG																													5.37:g.105751501G>C		Somatic	30	0		WXS	Illumina HiSeq	Phase_1	33	9	.		RNA	SNP		37																																																																																				.	0	0.453								
SUGCT	79783	bcgsc.ca	37	7	40277290	40277290	+	Missense_Mutation	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr7:40277290G>A	ENST00000335693.4	+	7	585	c.562G>A	c.(562-564)Gct>Act	p.A188T	C7orf10_ENST00000401647.2_Missense_Mutation_p.A188T|C7orf10_ENST00000309930.5_Missense_Mutation_p.A188T	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		188					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTTGCCTCGGCTGTTTCTGG	0.423																																					p.A188T													.	C7orf10	99	0			c.G562A						.						173.0	161.0	165.0					7																	40277290		1961	4168	6129	SO:0001583	missense	79783	exon7			GCCTCGGCTGTTT																												ENST00000335693.4:c.562G>A	7.37:g.40277290G>A	ENSP00000338475:p.Ala188Thr	Somatic	86	0		WXS	Illumina HiSeq	Phase_1	67	4	NM_001193313	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771011	0.90108	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.92446	-3.04;-0.4;-0.4	5.35	5.35	0.76521	CoA-transferase family III domain (2);	0.093782	0.64402	N	0.000001	D	0.97377	0.9142	H	0.95365	3.66	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.70227	0.968;0.964;0.947	D	0.98274	1.0505	10	0.87932	D	0	-8.1766	19.0288	0.92946	0.0:0.0:1.0:0.0	.	188;188;151	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	T	188	ENSP00000312054:A188T;ENSP00000385222:A188T;ENSP00000338475:A188T	ENSP00000312054:A188T	A	+	1	0	C7orf10	40243815	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.243000	0.72384	2.675000	0.91044	0.655000	0.94253	GCT	.		0.423	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
ZFHX4	79776	bcgsc.ca	37	8	77761880	77761880	+	Missense_Mutation	SNP	C	C	T	rs527426758		TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr8:77761880C>T	ENST00000521891.2	+	8	4226	c.3778C>T	c.(3778-3780)Cat>Tat	p.H1260Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.H1215Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H1234Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H1215Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACAAAATGCATCTCCAACT	0.498										HNSCC(33;0.089)																											p.H1260Y													.	ZFHX4	878	0			c.C3778T						.						104.0	98.0	100.0					8																	77761880		2065	4219	6284	SO:0001583	missense	79776	exon8			AAAATGCATCTCC		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3778C>T	8.37:g.77761880C>T	ENSP00000430497:p.His1260Tyr	Somatic	43	0		WXS	Illumina HiSeq	Phase_1	39	4	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061495	0.55432	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52754	0.65;0.71;0.68;0.67	4.38	4.38	0.52667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.43919	U	0.000515	T	0.61974	0.2390	L	0.56396	1.775	0.80722	D	1	D;D;D	0.61697	0.982;0.979;0.99	P;P;P	0.60236	0.747;0.784;0.871	T	0.64210	-0.6461	10	0.49607	T	0.09	.	17.4736	0.87653	0.0:1.0:0.0:0.0	.	1215;1215;1260	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1260;1260;1215;1215;1234	ENSP00000430497:H1260Y;ENSP00000399605:H1215Y;ENSP00000050961:H1215Y;ENSP00000430848:H1234Y	ENSP00000050961:H1215Y	H	+	1	0	ZFHX4	77924435	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.417000	0.82017	0.555000	0.69702	CAT	.		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
KRT16P5	353196	bcgsc.ca	37	17	20397346	20397346	+	IGR	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr17:20397346G>A								LGALS9B (26498 upstream) : KRT16P3 (8505 downstream)																							TGCTGGGGGCGCGGCAGGACC	0.701																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	353196	.			GGGGGCGCGGCAG																													17.37:g.20397346G>A		Somatic	136	0		WXS	Illumina HiSeq	Phase_1	140	34	.		RNA	SNP		37																																																																																				.	0	0.701								
CDKL5	6792	bcgsc.ca	37	X	18622316	18622316	+	Missense_Mutation	SNP	G	G	T			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chrX:18622316G>T	ENST00000379989.3	+	13	1557	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.K424N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	424					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTGACCCAAAGCCTTCAGAAG	0.453																																					p.K424N													.	CDKL5	124	0			c.G1272T						.						136.0	137.0	137.0					X																	18622316		2203	4300	6503	SO:0001583	missense	6792	exon12			CCCAAAGCCTTCA	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1272G>T	X.37:g.18622316G>T	ENSP00000369325:p.Lys424Asn	Somatic	66	0		WXS	Illumina HiSeq	Phase_1	13	3	NM_003159	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046466	0.55110	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	6.06	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.74658	0.3745	L	0.34521	1.04	0.32817	D	0.502182	D	0.76494	0.999	D	0.80764	0.994	T	0.79529	-0.1766	10	0.72032	D	0.01	-23.8541	10.09	0.42441	0.2355:0.0:0.7645:0.0	.	424	O76039	CDKL5_HUMAN	N	424	ENSP00000369332:K424N;ENSP00000369325:K424N	ENSP00000369325:K424N	K	+	3	2	CDKL5	18532237	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	3.731000	0.55013	0.688000	0.31529	0.600000	0.82982	AAG	.		0.453	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	
THSD7B	80731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	137814609	137814609	+	Silent	SNP	G	G	A			TCGA-W5-AA2T-01A-12D-A417-09	TCGA-W5-AA2T-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	312fb948-3690-45ce-90c9-db75807f9057	5e4d4d66-a2aa-4ca7-8fed-e566fc80cbb5	g.chr2:137814609G>A	ENST00000409968.1	+	3	937	c.759G>A	c.(757-759)ctG>ctA	p.L253L	THSD7B_ENST00000413152.2_Silent_p.L222L|THSD7B_ENST00000543459.1_Silent_p.L112L|THSD7B_ENST00000272643.3_Silent_p.L253L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	253						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGCAGACTGCCTCATCTTA	0.413																																					.		.											.	.	.	0			.						.						145.0	142.0	143.0					2																	137814609		1876	4118	5994	SO:0001819	synonymous_variant	80731	p.L253L			CAGACTGCCTCAT			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.759G>A	2.37:g.137814609G>A		Somatic	84	0		WXS	Illumina HiSeq	Phase_I	64	16	.		Silent	SNP	ENST00000409968.1	37																																																																																				.		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
