#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
RSC1A1	6248	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	15987540	15987540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:15987540delA	ENST00000345034.1	+	1	1177	c.1177delA	c.(1177-1179)aaafs	p.K393fs	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	393					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACCAGTATTAAAGACCTTTC	0.408																																					p.I392fs		.											.	.	.	0			c.1176delT						.						59.0	57.0	58.0					1																	15987540		2203	4300	6503	SO:0001589	frameshift_variant	6248	exon1			AGTATTAAAGACC	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1177delA	1.37:g.15987540delA	ENSP00000341963:p.Lys393fs	Somatic	41	0		WXS	Illumina HiSeq	.	38	14	NM_006511	B2RBP5	Frame_Shift_Del	DEL	ENST00000345034.1	37	CCDS161.1																																																																																			.		0.408	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511	
ELF3	1999	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	201980321	201980334	+	Frame_Shift_Del	DEL	CAGCTCGGAGGACT	CAGCTCGGAGGACT	-	rs150188692		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	CAGCTCGGAGGACT	CAGCTCGGAGGACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:201980321_201980334delCAGCTCGGAGGACT	ENST00000359651.3	+	1	3249_3262	c.57_70delCAGCTCGGAGGACT	c.(55-72)tacagctcggaggactccfs	p.SSEDS20fs	ELF3_ENST00000367284.5_Frame_Shift_Del_p.SSEDS20fs|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.SSEDS20fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GTGCGATGTACAGCTCGGAGGACTCCACCCTGGC	0.565																																					p.19_23del		.											.	.	.	0			c.56_69del						.																																			SO:0001589	frameshift_variant	1999	exon2			GATGTACAGCTCG	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.57_70delCAGCTCGGAGGACT	1.37:g.201980321_201980334delCAGCTCGGAGGACT	ENSP00000352673:p.Ser20fs	Somatic	28	0		WXS	Illumina HiSeq	.	29	10	NM_004433		Frame_Shift_Del	DEL	ENST00000359651.3	37	CCDS1419.1																																																																																			.		0.565	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433	
FNBP4	23360	hgsc.bcm.edu;broad.mit.edu	37	11	47754203	47754203	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:47754203C>T	ENST00000263773.5	-	11	1718	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	569						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGCCCCTTCCCGCCAGTCTGC	0.408																																					p.R569Q		.											.	.	.	0			c.G1706A						.						85.0	92.0	90.0					11																	47754203		1889	4098	5987	SO:0001583	missense	23360	exon11			CCTTCCCGCCAGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1706G>A	11.37:g.47754203C>T	ENSP00000263773:p.Arg569Gln	Somatic	69	0		WXS	Illumina HiSeq	.	98	4	NM_015308	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494719	0.85069	.	.	ENSG00000109920	ENST00000263773	T	0.11604	2.76	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00740	-1.1586	10	0.52906	T	0.07	-16.3095	19.7604	0.96314	0.0:1.0:0.0:0.0	.	569	Q8N3X1	FNBP4_HUMAN	Q	569	ENSP00000263773:R569Q	ENSP00000263773:R569Q	R	-	2	0	FNBP4	47710779	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	CGG	.		0.408	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3		
SLC26A7	115111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	92346590	92346590	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:92346590G>A	ENST00000276609.3	+	6	949	c.710G>A	c.(709-711)aGc>aAc	p.S237N	SLC26A7_ENST00000309536.2_Missense_Mutation_p.S237N|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S237N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTTGCTGAGCATTGTGGTC	0.313																																					p.S237N		.											.	.	.	0			c.G710A						.						165.0	153.0	157.0					8																	92346590		2202	4300	6502	SO:0001583	missense	115111	exon6			TGCTGAGCATTGT	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.710G>A	8.37:g.92346590G>A	ENSP00000276609:p.Ser237Asn	Somatic	62	0		WXS	Illumina HiSeq	.	158	68	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.314427|4.314427	0.81358|0.81358	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000520818|ENST00000523719;ENST00000276609;ENST00000309536	.|D;D;D	.|0.93076	.|-3.16;-3.16;-3.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Sulphate transporter (1);	.|0.059869	.|0.64402	.|D	.|0.000001	D|D	0.96002|0.96002	0.8698|0.8698	M|M	0.69358|0.69358	2.11|2.11	0.39993|0.39993	D|D	0.975067|0.975067	.|D;D	.|0.76494	.|0.999;0.997	.|D;D	.|0.68943	.|0.961;0.932	D|D	0.94297|0.94297	0.7534|0.7534	5|10	.|0.27082	.|T	.|0.32	.|.	19.922|19.922	0.97089|0.97089	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|237;237	.|Q8TE54-2;Q8TE54	.|.;S26A7_HUMAN	T|N	105|237	.|ENSP00000428849:S237N;ENSP00000276609:S237N;ENSP00000309504:S237N	.|ENSP00000276609:S237N	A|S	+|+	1|2	0|0	SLC26A7|SLC26A7	92415766|92415766	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.417000|6.417000	0.73337|0.73337	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GCA|AGC	.		0.313	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
UNC45B	146862	hgsc.bcm.edu	37	17	33504088	33504088	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:33504088C>T	ENST00000268876.5	+	16	2181	c.2084C>T	c.(2083-2085)gCc>gTc	p.A695V	UNC45B_ENST00000433649.1_Missense_Mutation_p.A693V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A693V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A614V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A614V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	695					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGAAGGCAGCCCACGCTCTA	0.572																																					p.A695V		.											UNC45B,NS,carcinoma,0,1	UNC45B	0	0			c.C2084T						.						148.0	115.0	126.0					17																	33504088		2203	4300	6503	SO:0001583	missense	146862	exon16			AGGCAGCCCACGC	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2084C>T	17.37:g.33504088C>T	ENSP00000268876:p.Ala695Val	Somatic	28	0		WXS	Illumina HiSeq	.	47	2	NM_173167	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025768	0.75390	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49720	1.28;0.77;2.91;0.77	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.262180	0.44483	D	0.000459	T	0.64527	0.2606	M	0.86268	2.805	0.31527	N	0.661688	B;P;P	0.49307	0.403;0.765;0.922	B;P;P	0.50136	0.128;0.56;0.632	T	0.74124	-0.3766	10	0.87932	D	0	-26.9056	18.0106	0.89222	0.0:1.0:0.0:0.0	.	614;693;695	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	695;695;693;614	ENSP00000378071:A695V;ENSP00000268876:A695V;ENSP00000412840:A693V;ENSP00000367710:A614V	ENSP00000268876:A695V	A	+	2	0	UNC45B	30528201	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.145000	0.58065	2.814000	0.96858	0.563000	0.77884	GCC	.		0.572	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
SF3A2	8175	hgsc.bcm.edu	37	19	2248134	2248134	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:2248134G>A	ENST00000221494.5	+	9	1402	c.984G>A	c.(982-984)ggG>ggA	p.G328G	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	328	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		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)		CAACCTCTGGGGTCCACCCCC	0.726																																					p.G328G		.											.	.	.	0			c.G984A						.						3.0	3.0	3.0					19																	2248134		1742	3564	5306	SO:0001819	synonymous_variant	8175	exon9			CTCTGGGGTCCAC	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.984G>A	19.37:g.2248134G>A		Somatic	12	0		WXS	Illumina HiSeq	.	23	4	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.		0.726	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3		
KATNAL2	83473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	44579415	44579415	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr18:44579415C>T	ENST00000245121.5	+	2	265	c.71C>T	c.(70-72)aCa>aTa	p.T24I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.T96I	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TCATCAGACACAGGTACATGC	0.348																																					p.T24I		.											.	.	.	0			c.C71T						.						109.0	116.0	114.0					18																	44579415		2203	4300	6503	SO:0001583	missense	83473	exon2			CAGACACAGGTAC	BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.71C>T	18.37:g.44579415C>T	ENSP00000245121:p.Thr24Ile	Somatic	45	0		WXS	Illumina HiSeq	.	60	23	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727862	0.30593	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93811	-3.29;-3.25	5.57	3.75	0.43078	.	0.811760	0.11616	N	0.546241	D	0.87985	0.6316	N	0.19112	0.55	0.26918	N	0.96674	.	.	.	.	.	.	T	0.80334	-0.1426	8	0.36615	T	0.2	-0.2942	8.4719	0.32991	0.275:0.6546:0.0:0.0704	.	.	.	.	I	96;24	ENSP00000348478:T96I;ENSP00000245121:T24I	ENSP00000245121:T24I	T	+	2	0	KATNAL2	42833413	0.537000	0.26386	0.991000	0.47740	0.924000	0.55760	1.077000	0.30741	1.467000	0.48044	0.655000	0.94253	ACA	.		0.348	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
ADAM32	203102	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	39114753	39114753	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:39114753C>A	ENST00000379907.4	+	19	2180	c.2053C>A	c.(2053-2055)Cta>Ata	p.L685I	ADAM32_ENST00000437682.2_Missense_Mutation_p.L586I|ADAM32_ENST00000519315.1_Missense_Mutation_p.L579I	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	685						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CACCTGGCTTCTAGGTTTCCT	0.358																																					p.L685I		.											.	.	.	0			c.C2053A						.						101.0	102.0	101.0					8																	39114753		1823	4082	5905	SO:0001583	missense	203102	exon19			TGGCTTCTAGGTT	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2053C>A	8.37:g.39114753C>A	ENSP00000369238:p.Leu685Ile	Somatic	38	0		WXS	Illumina HiSeq	.	98	10	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388024	0.42308	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.94232	-3.38;-3.38;-3.38	4.39	1.4	0.22301	.	0.000000	0.27019	N	0.021334	D	0.92211	0.7530	L	0.35644	1.08	0.19575	N	0.999963	D;D;P;P	0.89917	0.999;1.0;0.678;0.876	D;D;B;B	0.85130	0.991;0.997;0.235;0.338	D	0.83445	0.0045	10	0.18276	T	0.48	.	6.1684	0.20404	0.0:0.6468:0.0:0.3532	.	586;109;579;685	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	I	586;579;685	ENSP00000405978:L586I;ENSP00000429422:L579I;ENSP00000369238:L685I	ENSP00000369238:L685I	L	+	1	2	ADAM32	39233910	0.922000	0.31269	0.420000	0.26596	0.104000	0.19210	0.420000	0.21263	0.299000	0.22661	0.655000	0.94253	CTA	.		0.358	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
LCN12	286256	hgsc.bcm.edu	37	9	139846784	139846784	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:139846784G>T	ENST00000371633.3	+	1	5	c.5G>T	c.(4-6)aGg>aTg	p.R2M		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	2					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCCAGGATGAGGCTGCTGTGT	0.637																																					p.R2M		.											.	.	.	0			c.G5T						.						17.0	24.0	22.0					9																	139846784		2064	4207	6271	SO:0001583	missense	286256	exon1			GGATGAGGCTGCT	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.5G>T	9.37:g.139846784G>T	ENSP00000360696:p.Arg2Met	Somatic	55	0		WXS	Illumina HiSeq	.	65	3	NM_178536	A2AMJ7	Missense_Mutation	SNP	ENST00000371633.3	37	CCDS7018.2	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395827	0.25205	.	.	ENSG00000184925	ENST00000371633	T	0.49720	0.77	3.88	2.97	0.34412	.	0.509292	0.14524	N	0.314290	T	0.42154	0.1190	L	0.36672	1.1	0.09310	N	1	D;B	0.56521	0.976;0.147	P;B	0.49829	0.623;0.023	T	0.21586	-1.0241	10	0.56958	D	0.05	-7.9354	5.5467	0.17067	0.1105:0.0:0.6947:0.1948	.	2;2	Q8IW14;Q6JVE5	.;LCN12_HUMAN	M	2	ENSP00000360696:R2M	ENSP00000360696:R2M	R	+	2	0	LCN12	138966605	0.015000	0.18098	0.113000	0.21522	0.028000	0.11728	0.199000	0.17237	0.929000	0.37192	0.462000	0.41574	AGG	.		0.637	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536	
FTH1	2495	hgsc.bcm.edu	37	11	61734852	61734852	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:61734852C>A	ENST00000273550.7	-	1	280	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	FTH1_ENST00000529191.1_Missense_Mutation_p.D16Y|FTH1_ENST00000526640.1_Intron|AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000532601.1_5'Flank|FTH1_ENST00000529631.1_Missense_Mutation_p.D16Y	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697																																					p.D16Y		.											FTH1,NS,malignant_melanoma,0,1	FTH1	0	1	Substitution - Missense(1)	NS(1)	c.G46T						.						10.0	11.0	11.0					11																	61734852		1923	4038	5961	SO:0001583	missense	2495	exon1			CTGAGTCCTGGTG		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.46G>T	11.37:g.61734852C>A	ENSP00000273550:p.Asp16Tyr	Somatic	22	0		WXS	Illumina HiSeq	.	43	2	NM_002032	B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	ENST00000273550.7	37	CCDS41655.1	.	.	.	.	.	.	.	.	.	.	.	36	5.640479	0.96693	.	.	ENSG00000167996	ENST00000529191;ENST00000529631;ENST00000530019;ENST00000273550;ENST00000406545	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.76	4.76	0.60689	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.141911	0.64402	D	0.000007	D	0.84097	0.5397	H	0.96142	3.775	0.80722	D	1	P	0.49447	0.924	P	0.52309	0.695	D	0.89969	0.4092	10	0.87932	D	0	.	17.7341	0.88387	0.0:1.0:0.0:0.0	.	16	P02794	FRIH_HUMAN	Y	16;16;16;16;65	ENSP00000431659:D16Y;ENSP00000431575:D16Y;ENSP00000433470:D16Y;ENSP00000273550:D16Y	ENSP00000273550:D16Y	D	-	1	0	FTH1	61491428	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.164000	0.77533	2.319000	0.78375	0.484000	0.47621	GAC	.		0.697	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032	
APPL1	26060	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	57272144	57272144	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:57272144G>T	ENST00000288266.3	+	4	432	c.285G>T	c.(283-285)gaG>gaT	p.E95D		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	95	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTATAGATGAGGTAAACGTTT	0.318																																					p.E95D		.											.	.	.	0			c.G285T						.						116.0	113.0	114.0					3																	57272144		2203	4300	6503	SO:0001630	splice_region_variant	26060	exon4			AGATGAGGTAAAC	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.285+1G>T	3.37:g.57272144G>T		Somatic	57	0		WXS	Illumina HiSeq	.	71	4	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201794	0.79015	.	.	ENSG00000157500	ENST00000288266;ENST00000444459	T;T	0.33216	1.42;1.42	5.87	3.0	0.34707	.	0.046330	0.85682	D	0.000000	T	0.47173	0.1431	M	0.68593	2.085	0.58432	D	0.999998	P;D;D	0.65815	0.686;0.978;0.995	B;D;P	0.65323	0.296;0.934;0.897	T	0.36040	-0.9764	10	0.62326	D	0.03	.	8.608	0.33784	0.3033:0.0:0.6967:0.0	.	78;78;95	B4DQX8;C9JAB0;Q9UKG1	.;.;DP13A_HUMAN	D	95;78	ENSP00000288266:E95D;ENSP00000406095:E78D	ENSP00000288266:E95D	E	+	3	2	APPL1	57247184	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.279000	0.51670	0.337000	0.23665	-0.355000	0.07637	GAG	.		0.318	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	Missense_Mutation
PRSS58	136541	hgsc.bcm.edu;ucsc.edu	37	7	141954901	141954901	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:141954901G>T	ENST00000552471.1	-	3	729	c.410C>A	c.(409-411)aCc>aAc	p.T137N	PRSS58_ENST00000547058.2_Missense_Mutation_p.T137N			Q8IYP2	PRS58_HUMAN	protease, serine, 58	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GTAGCTCCAGGTAGAGACAGA	0.418																																					p.T137N		.											.	.	.	0			c.C410A						.						237.0	213.0	221.0					7																	141954901		2203	4300	6503	SO:0001583	missense	136541	exon4			CTCCAGGTAGAGA		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.410C>A	7.37:g.141954901G>T	ENSP00000446916:p.Thr137Asn	Somatic	11	0		WXS	Illumina HiSeq	.	26	4	NM_001001317	B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542254	0.45280	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81330	-1.48;-1.48	4.93	3.98	0.46160	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.87505	0.6194	M	0.72894	2.215	0.40507	D	0.980702	D	0.89917	1.0	D	0.85130	0.997	D	0.88082	0.2807	9	0.87932	D	0	.	11.2574	0.49063	0.0:0.2828:0.7172:0.0	.	137	Q8IYP2	PRS58_HUMAN	N	137	ENSP00000447588:T137N;ENSP00000446916:T137N	ENSP00000307206:T137N	T	-	2	0	PRSS58	141601378	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	4.381000	0.59587	2.732000	0.93576	0.655000	0.94253	ACC	.		0.418	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
ISYNA1	51477	hgsc.bcm.edu	37	19	18548727	18548727	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:18548727G>A	ENST00000338128.8	-	2	280	c.63C>T	c.(61-63)atC>atT	p.I21I	ISYNA1_ENST00000545187.1_5'UTR|ISYNA1_ENST00000578963.1_5'Flank|ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000457269.4_Silent_p.I21I	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	21					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						ATTGCGCCTCGATGGCCTCGG	0.721																																					p.I21I		.											.	.	.	0			c.C63T						.						20.0	23.0	22.0					19																	18548727		2197	4297	6494	SO:0001819	synonymous_variant	51477	exon2			CGCCTCGATGGCC		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.63C>T	19.37:g.18548727G>A		Somatic	13	0		WXS	Illumina HiSeq	.	27	4	NM_001170938	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Silent	SNP	ENST00000338128.8	37	CCDS12379.1																																																																																			.		0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368	
GCNT1	2650	hgsc.bcm.edu	37	9	79117954	79117954	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:79117954G>T	ENST00000376730.4	+	4	1140	c.657G>T	c.(655-657)atG>atT	p.M219I	GCNT1_ENST00000536223.1_Missense_Mutation_p.M219I|GCNT1_ENST00000442371.1_Missense_Mutation_p.M219I|GCNT1_ENST00000444201.2_Missense_Mutation_p.M219I	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	219	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGTGGTATGGATTTTCCCA	0.428																																					p.M219I		.											GCNT1,NS,malignant_melanoma,0,2	GCNT1	0	0			c.G657T						.						69.0	68.0	68.0					9																	79117954		2203	4300	6503	SO:0001583	missense	2650	exon4			TGGTATGGATTTT	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.657G>T	9.37:g.79117954G>T	ENSP00000365920:p.Met219Ile	Somatic	37	0		WXS	Illumina HiSeq	.	43	2	NM_001490	Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	g	18.57	3.652814	0.67472	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	6.07	5.18	0.71444	.	0.088174	0.85682	D	0.000000	T	0.18718	0.0449	M	0.63428	1.95	0.54753	D	0.99998	P	0.42161	0.772	P	0.45377	0.478	T	0.01093	-1.1454	9	.	.	.	.	15.3604	0.74469	0.0664:0.0:0.9336:0.0	.	219	Q02742	GCNT1_HUMAN	I	219	ENSP00000440883:M219I;ENSP00000415454:M219I;ENSP00000390703:M219I;ENSP00000365920:M219I	.	M	+	3	0	GCNT1	78307774	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	4.191000	0.58372	1.586000	0.49944	0.655000	0.94253	ATG	.		0.428	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634	
POLR3B	55703	hgsc.bcm.edu	37	12	106853126	106853126	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:106853126G>T	ENST00000228347.4	+	22	2772	c.2550G>T	c.(2548-2550)caG>caT	p.Q850H	POLR3B_ENST00000539066.1_Missense_Mutation_p.Q792H	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	850					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGCAACCACAGTACAAAGATG	0.393																																					p.Q850H		.											.	.	.	0			c.G2550T						.						149.0	125.0	133.0					12																	106853126		2203	4300	6503	SO:0001583	missense	55703	exon22			ACCACAGTACAAA	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2550G>T	12.37:g.106853126G>T	ENSP00000228347:p.Gln850His	Somatic	31	0		WXS	Illumina HiSeq	.	88	4	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554469	0.45487	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.72282	-0.64;-0.64	5.59	5.59	0.84812	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.49778	1.585	0.80722	D	1	B	0.15719	0.014	B	0.24974	0.057	T	0.64347	-0.6429	10	0.54805	T	0.06	-16.6386	13.8415	0.63441	0.073:0.0:0.927:0.0	.	850	Q9NW08	RPC2_HUMAN	H	850;792	ENSP00000228347:Q850H;ENSP00000445721:Q792H	ENSP00000228347:Q850H	Q	+	3	2	POLR3B	105377256	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.724000	0.74747	2.636000	0.89361	0.655000	0.94253	CAG	.		0.393	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
KCNU1	157855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	36793039	36793039	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:36793039G>T	ENST00000399881.3	+	27	3088	c.3051G>T	c.(3049-3051)gtG>gtT	p.V1017V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1017					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAGGTTTGTGATCACCCGGC	0.473																																					p.V1017V		.											.	.	.	0			c.G3051T						.						101.0	99.0	99.0					8																	36793039		1936	4157	6093	SO:0001819	synonymous_variant	157855	exon27			GTTTGTGATCACC	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3051G>T	8.37:g.36793039G>T		Somatic	24	0		WXS	Illumina HiSeq	.	57	9	NM_001031836		Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																			.		0.473	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
CPT1C	126129	hgsc.bcm.edu	37	19	50214055	50214055	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:50214055C>T	ENST00000392518.4	+	16	2179	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	CPT1C_ENST00000405931.2_Missense_Mutation_p.R592W|CPT1C_ENST00000323446.5_Missense_Mutation_p.R603W|CPT1C_ENST00000598293.1_Missense_Mutation_p.R603W|CPT1C_ENST00000354199.5_Missense_Mutation_p.R603W	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	603					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R603W(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGAGACGGTGCGGTCTTGCAC	0.577																																					p.R603W		.											CPT1C,caecum,carcinoma,-1,1	CPT1C	-1	1	Substitution - Missense(1)	lung(1)	c.C1807T						.						54.0	50.0	52.0					19																	50214055		2203	4300	6503	SO:0001583	missense	126129	exon16			ACGGTGCGGTCTT	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1807C>T	19.37:g.50214055C>T	ENSP00000376303:p.Arg603Trp	Somatic	25	0		WXS	Illumina HiSeq	.	33	2	NM_001199752	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.027391	0.75390	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	3.96	-0.173	0.13322	.	0.000000	0.33610	N	0.004724	D	0.98495	0.9498	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98487	1.0608	10	0.87932	D	0	-22.1682	11.9852	0.53142	0.5454:0.4546:0.0:0.0	.	592;603	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	W	603;603;592;603	ENSP00000376303:R603W;ENSP00000346138:R603W;ENSP00000384465:R592W;ENSP00000319343:R603W	ENSP00000319343:R603W	R	+	1	2	CPT1C	54905867	1.000000	0.71417	0.802000	0.32245	0.884000	0.51177	1.327000	0.33746	-0.036000	0.13669	0.299000	0.19835	CGG	.		0.577	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
BBS2	583	hgsc.bcm.edu	37	16	56535283	56535283	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:56535283G>A	ENST00000245157.5	-	10	1627	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	BBS2_ENST00000568104.1_Missense_Mutation_p.R403C|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	403					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R403C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GTGGAAATGCGTAATTCTGTA	0.478									Bardet-Biedl syndrome																												p.R403C		.											BBS2,NS,carcinoma,+1,1	BBS2	+1	1	Substitution - Missense(1)	lung(1)	c.C1207T						.						245.0	227.0	234.0					16																	56535283		2198	4300	6498	SO:0001583	missense	583	exon10	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AAATGCGTAATTC	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1207C>T	16.37:g.56535283G>A	ENSP00000245157:p.Arg403Cys	Somatic	30	0		WXS	Illumina HiSeq	.	73	3	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	G	3.981	-0.006506	0.07773	.	.	ENSG00000125124	ENST00000245157	D	0.90955	-2.76	5.02	-3.78	0.04333	.	0.433900	0.27759	N	0.017969	T	0.73791	0.3632	N	0.12471	0.22	0.27560	N	0.950221	B	0.02656	0.0	B	0.01281	0.0	T	0.60078	-0.7333	10	0.37606	T	0.19	0.1208	2.7427	0.05258	0.3672:0.2028:0.3304:0.0995	.	403	Q9BXC9	BBS2_HUMAN	C	403	ENSP00000245157:R403C	ENSP00000245157:R403C	R	-	1	0	BBS2	55092784	0.952000	0.32445	0.179000	0.23059	0.022000	0.10575	0.569000	0.23638	-0.671000	0.05274	-0.295000	0.09555	CGC	.		0.478	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
TTC9B	148014	hgsc.bcm.edu	37	19	40722126	40722126	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:40722126T>C	ENST00000311308.6	-	3	681	c.664A>G	c.(664-666)Agc>Ggc	p.S222G		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	222					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CGCTGGAGGCTGCAACGATTC	0.617																																					p.S222G		.											TTC9B,NS,carcinoma,0,1	TTC9B	0	0			c.A664G						.						130.0	101.0	110.0					19																	40722126		2203	4300	6503	SO:0001583	missense	148014	exon3			GGAGGCTGCAACG	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.664A>G	19.37:g.40722126T>C	ENSP00000311760:p.Ser222Gly	Somatic	27	0		WXS	Illumina HiSeq	.	37	2	NM_152479	A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.709913	0.48517	.	.	ENSG00000174521	ENST00000311308	T	0.34667	1.35	4.23	2.08	0.27032	.	0.357073	0.28176	N	0.016319	T	0.19725	0.0474	N	0.21448	0.665	0.34822	D	0.738839	B	0.02656	0.0	B	0.04013	0.001	T	0.13683	-1.0500	10	0.26408	T	0.33	-0.9123	5.3762	0.16166	0.0:0.0982:0.1768:0.725	.	222	Q8N6N2	TTC9B_HUMAN	G	222	ENSP00000311760:S222G	ENSP00000311760:S222G	S	-	1	0	TTC9B	45413966	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	1.623000	0.37008	0.073000	0.16731	0.454000	0.30748	AGC	.		0.617	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479	
XIRP2	129446	hgsc.bcm.edu	37	2	168099965	168099965	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:168099965A>G	ENST00000409195.1	+	9	2152	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D688G|XIRP2_ENST00000409273.1_Missense_Mutation_p.D466G|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	513					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D688G(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTGGGGGGGATGTCAAGACT	0.418																																					p.D688G		.											XIRP2,NS,carcinoma,0,2	XIRP2	0	2	Substitution - Missense(2)	endometrium(2)	c.A2063G						.						83.0	80.0	81.0					2																	168099965		1938	4142	6080	SO:0001583	missense	129446	exon9			GGGGGGATGTCAA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2063A>G	2.37:g.168099965A>G	ENSP00000386840:p.Asp688Gly	Somatic	14	0		WXS	Illumina HiSeq	.	40	3	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726331	0.48833	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.08896	3.06;3.06;3.04	5.93	5.93	0.95920	.	0.049093	0.85682	D	0.000000	T	0.21921	0.0528	M	0.86651	2.83	0.48395	D	0.999646	P;P;P	0.48162	0.848;0.906;0.906	B;P;P	0.50378	0.436;0.639;0.639	T	0.01613	-1.1312	10	0.72032	D	0.01	-16.8843	8.6084	0.33786	0.8005:0.1314:0.0682:0.0	.	513;513;466	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	688;688;466	ENSP00000386840:D688G;ENSP00000295237:D688G;ENSP00000387255:D466G	ENSP00000295237:D688G	D	+	2	0	XIRP2	167808211	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.464000	0.53057	2.271000	0.75665	0.533000	0.62120	GAT	.		0.418	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
SHKBP1	92799	hgsc.bcm.edu	37	19	41086736	41086736	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:41086736G>T	ENST00000291842.5	+	9	787	c.738G>T	c.(736-738)cgG>cgT	p.R246R	SHKBP1_ENST00000600733.1_Silent_p.R246R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	246					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACAGCCCGGGTGCATGGTG	0.647																																					p.R246R		.											.	.	.	0			c.G738T						.						77.0	82.0	80.0					19																	41086736		2203	4300	6503	SO:0001819	synonymous_variant	92799	exon9			AGCCCGGGTGCAT	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.738G>T	19.37:g.41086736G>T		Somatic	42	0		WXS	Illumina HiSeq	.	65	4	NM_138392	Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	CCDS12560.1																																																																																			.		0.647	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	
FBN2	2201	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	127641262	127641262	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:127641262C>A	ENST00000508053.1	-	50	6589	c.5615G>T	c.(5614-5616)gGt>gTt	p.G1872V	FBN2_ENST00000262464.4_Missense_Mutation_p.G1872V			P35556	FBN2_HUMAN	fibrillin 2	1872	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCGGTAACTACCAGGACTATT	0.463																																					p.G1872V		.											.	.	.	0			c.G5615T						.						100.0	97.0	98.0					5																	127641262		2203	4300	6503	SO:0001583	missense	2201	exon44			TAACTACCAGGAC	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5615G>T	5.37:g.127641262C>A	ENSP00000424571:p.Gly1872Val	Somatic	23	0		WXS	Illumina HiSeq	.	45	22	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534609	0.64972	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99557	-6.16;-6.16	5.35	4.48	0.54585	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.330882	0.26750	N	0.022692	D	0.99764	0.9904	H	0.98559	4.265	0.80722	D	1	D	0.62365	0.991	P	0.62740	0.906	D	0.96995	0.9725	10	0.87932	D	0	.	14.6441	0.68748	0.0:0.9302:0.0:0.0698	.	1872	P35556	FBN2_HUMAN	V	1872	ENSP00000262464:G1872V;ENSP00000424571:G1872V	ENSP00000262464:G1872V	G	-	2	0	FBN2	127669161	1.000000	0.71417	0.960000	0.40013	0.392000	0.30506	7.276000	0.78559	1.628000	0.50416	-0.150000	0.13652	GGT	.		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PLCB1	23236	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	8703060	8703060	+	Missense_Mutation	SNP	A	A	C	rs138851178	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:8703060A>C	ENST00000338037.6	+	15	1600	c.1573A>C	c.(1573-1575)Atg>Ctg	p.M525L	PLCB1_ENST00000378637.2_Missense_Mutation_p.M525L|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.M525L	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	525					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAATCTTCAATGGATGAGGT	0.448																																					p.E525Q		.											.	.	.	0			c.G1573C						.						201.0	160.0	174.0					20																	8703060		2203	4300	6503	SO:0001583	missense	23236	exon15			TCTTCAATGGATG	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1573A>C	20.37:g.8703060A>C	ENSP00000338185:p.Met525Leu	Somatic	62	0		WXS	Illumina HiSeq	.	104	42	NM_015192	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.082449	0.55861	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.49432	0.78;0.78;0.78	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.157283	0.37906	U	0.001882	T	0.42245	0.1194	L	0.44542	1.39	0.52501	D	0.999952	B;B	0.13145	0.0;0.007	B;B	0.16289	0.001;0.015	T	0.19516	-1.0303	10	0.28530	T	0.3	.	15.6296	0.76893	1.0:0.0:0.0:0.0	.	525;525	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	L	525;525;525;445;445	ENSP00000367908:M525L;ENSP00000338185:M525L;ENSP00000367904:M525L	ENSP00000338185:M525L	M	+	1	0	PLCB1	8651060	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.524000	0.81866	2.285000	0.76669	0.533000	0.62120	ATG	.		0.448	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
SCP2D1	140856	hgsc.bcm.edu	37	20	18794574	18794574	+	Silent	SNP	C	C	T	rs142475609		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:18794574C>T	ENST00000377428.2	+	1	205	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	C20orf78_ENST00000278779.4_Intron|C20orf78_ENST00000463425.1_5'Flank	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	39								p.L39L(1)									TCCTCTAGAGCTGTCAGAATT	0.502																																					p.L39L		.											C20orf79,NS,malignant_melanoma,0,1	C20orf79	0	1	Substitution - coding silent(1)	skin(1)	c.C115T						.						93.0	85.0	87.0					20																	18794574		2203	4300	6503	SO:0001819	synonymous_variant	140856	exon1			CTAGAGCTGTCAG	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.115C>T	20.37:g.18794574C>T		Somatic	15	0		WXS	Illumina HiSeq	.	36	3	NM_178483	Q548A4	Silent	SNP	ENST00000377428.2	37	CCDS13139.1																																																																																			.		0.502	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483	
MRPS35	60488	hgsc.bcm.edu	37	12	27863845	27863845	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:27863845C>T	ENST00000081029.3	+	1	140	c.69C>T	c.(67-69)tcC>tcT	p.S23S	RP11-1060J15.4_ENST00000542660.1_RNA|MRPS35_ENST00000538315.1_Silent_p.S23S|RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.7_ENST00000538640.1_lincRNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GTGCATTCTCCACTGCCGTCT	0.652																																					p.S23S		.											MRPS35,NS,neuroblastoma,0,1	MRPS35	0	0			c.C69T						.						63.0	51.0	55.0					12																	27863845		2203	4300	6503	SO:0001819	synonymous_variant	60488	exon1			ATTCTCCACTGCC	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.69C>T	12.37:g.27863845C>T		Somatic	30	0		WXS	Illumina HiSeq	.	73	3	NM_001190864	B2RDZ7|Q96Q21	Silent	SNP	ENST00000081029.3	37	CCDS8714.1																																																																																			.		0.652	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821	
KCNB2	9312	hgsc.bcm.edu;broad.mit.edu	37	8	73849914	73849914	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr8:73849914C>T	ENST00000523207.1	+	3	2912	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	775					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGGTTTCAGCGCCTTGTCAG	0.537																																					p.A775V		.											KCNB2,NS,carcinoma,0,1	KCNB2	0	0			c.C2324T						.						52.0	58.0	56.0					8																	73849914		2203	4300	6503	SO:0001583	missense	9312	exon3			TTTCAGCGCCTTG	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2324C>T	8.37:g.73849914C>T	ENSP00000430846:p.Ala775Val	Somatic	9	0		WXS	Illumina HiSeq	.	28	3	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	5.642	0.303067	0.10678	.	.	ENSG00000182674	ENST00000523207	D	0.96992	-4.2	4.91	4.0	0.46444	.	2.211580	0.02297	N	0.070878	D	0.91175	0.7220	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.81324	-0.0984	10	0.09590	T	0.72	.	5.4488	0.16550	0.1224:0.5985:0.1944:0.0848	.	775	Q92953	KCNB2_HUMAN	V	775	ENSP00000430846:A775V	ENSP00000430846:A775V	A	+	2	0	KCNB2	74012468	0.001000	0.12720	0.050000	0.19076	0.946000	0.59487	0.631000	0.24568	2.540000	0.85666	0.591000	0.81541	GCG	.		0.537	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
RHOBTB3	22836	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	95099223	95099223	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:95099223T>G	ENST00000379982.3	+	7	1568	c.1060T>G	c.(1060-1062)Tgg>Ggg	p.W354G	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	354	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TGCTTTTCAGTGGGAAGAATT	0.313																																					p.W354G		.											.	.	.	0			c.T1060G						.						80.0	84.0	83.0					5																	95099223		2203	4298	6501	SO:0001583	missense	22836	exon7			TTTCAGTGGGAAG	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1060T>G	5.37:g.95099223T>G	ENSP00000369318:p.Trp354Gly	Somatic	46	0		WXS	Illumina HiSeq	.	128	7	NM_014899	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.992341	0.74703	.	.	ENSG00000164292	ENST00000379982	T	0.66815	-0.23	5.48	5.48	0.80851	BTB/POZ-like (2);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.32530	0.975	0.80722	D	1	D	0.59357	0.985	P	0.54401	0.751	T	0.66752	-0.5844	10	0.35671	T	0.21	-14.6868	15.2674	0.73672	0.0:0.0:0.0:1.0	.	354	O94955	RHBT3_HUMAN	G	354	ENSP00000369318:W354G	ENSP00000369318:W354G	W	+	1	0	RHOBTB3	95124979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.210000	0.65214	2.081000	0.62600	0.533000	0.62120	TGG	.		0.313	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899	
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu	37	3	52651496	52651496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:52651496G>A	ENST00000296302.7	-	14	1601	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R534*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R534*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R549*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R534*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R502*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R549*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R534*			Q86U86	PB1_HUMAN	polybromo 1	534					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R534*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTGGCTCTCGAGCTTCAAGA	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.R534X		.		Rec	yes		3	3p21	55193	polybromo 1		E	PBRM1_ENST00000296302,NS,carcinoma,0,1	PBRM1_ENST00000296302	0	1	Substitution - Nonsense(1)	pancreas(1)	c.C1600T						.						89.0	88.0	89.0					3																	52651496		2203	4300	6503	SO:0001587	stop_gained	55193	exon15			GCTCTCGAGCTTC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1600C>T	3.37:g.52651496G>A	ENSP00000296302:p.Arg534*	Somatic	20	0		WXS	Illumina HiSeq	.	24	3	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	38	7.157893	0.98103	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.2756	15.7119	0.77635	0.0:0.0:0.8627:0.1372	.	.	.	.	X	502;534;534;534;534;534;549;549;534;493	.	ENSP00000296302:R534X	R	-	1	2	PBRM1	52626536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.657000	0.61490	2.764000	0.94973	0.655000	0.94253	CGA	.		0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
CCDC102B	79839	hgsc.bcm.edu	37	18	66721302	66721302	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr18:66721302G>T	ENST00000360242.5	+	8	1587	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q490H	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	490										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTAAGCTCCAGAGGTCTCTGG	0.373																																					p.Q490H		.											CCDC102B,NS,malignant_melanoma,0,2	CCDC102B	0	0			c.G1470T						.						83.0	80.0	81.0					18																	66721302		2203	4300	6503	SO:0001583	missense	79839	exon10			GCTCCAGAGGTCT	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1470G>T	18.37:g.66721302G>T	ENSP00000353377:p.Gln490His	Somatic	36	0		WXS	Illumina HiSeq	.	41	2	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	13.35	2.211809	0.39102	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.18502	2.21;2.21	5.05	4.17	0.49024	.	0.231054	0.22173	U	0.063609	T	0.37461	0.1004	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.12837	-1.0532	10	0.87932	D	0	-10.5179	9.3118	0.37910	0.0999:0.0:0.9001:0.0	.	490	Q68D86	C102B_HUMAN	H	490	ENSP00000316237:Q490H;ENSP00000353377:Q490H	ENSP00000316237:Q490H	Q	+	3	2	CCDC102B	64872282	1.000000	0.71417	0.976000	0.42696	0.183000	0.23260	1.620000	0.36976	1.145000	0.42336	0.454000	0.30748	CAG	.		0.373	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
NPY1R	4886	hgsc.bcm.edu	37	4	164246817	164246817	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:164246817G>A	ENST00000296533.2	-	3	1324	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	NPY1R_ENST00000509586.1_Silent_p.L22L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	265					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGGAGAGCAGCATGATATTG	0.403																																					p.L265L		.											NPY1R,NS,carcinoma,0,1	NPY1R	0	0			c.C793T						.						82.0	80.0	81.0					4																	164246817		2203	4300	6503	SO:0001819	synonymous_variant	4886	exon3			AGAGCAGCATGAT		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.793C>T	4.37:g.164246817G>A		Somatic	17	0		WXS	Illumina HiSeq	.	28	2	NM_000909	B2R6H5	Silent	SNP	ENST00000296533.2	37	CCDS34089.1																																																																																			.		0.403	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1		
FRG1B	284802	hgsc.bcm.edu	37	20	29628423	29628423	+	Intron	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:29628423T>G	ENST00000278882.3	+	6	713				FRG1B_ENST00000358464.4_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTGTCACTTTAAAGATTCAG	0.299																																					.		.											.	.	.	0			.						.																																			SO:0001627	intron_variant	284802	.			TCACTTTAAAGAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.333+92T>G	20.37:g.29628423T>G		Somatic	103	0		WXS	Illumina HiSeq	.	174	7	.	C4AME5	RNA	SNP	ENST00000278882.3	37																																																																																				.		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
CYP4B1	1580	hgsc.bcm.edu	37	1	47264867	47264867	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:47264867G>A	ENST00000271153.4	+	1	150	c.114G>A	c.(112-114)acG>acA	p.T38T	CYP4B1_ENST00000371919.4_Silent_p.T38T|CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371923.4_Silent_p.T38T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	38					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GGAGGCAGACGTTGGCTAAGG	0.582																																					p.T38T		.											CYP4B1,NS,carcinoma,0,1	CYP4B1	0	0			c.G114A						.						68.0	57.0	61.0					1																	47264867		2203	4300	6503	SO:0001819	synonymous_variant	1580	exon1			GCAGACGTTGGCT	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.114G>A	1.37:g.47264867G>A		Somatic	20	0		WXS	Illumina HiSeq	.	29	2	NM_000779	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	CCDS542.1																																																																																			.		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
DAOA	267012	hgsc.bcm.edu;ucsc.edu	37	13	106142521	106142521	+	3'UTR	SNP	G	G	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr13:106142521G>C	ENST00000375936.3	+	0	599				DAOA_ENST00000329625.5_3'UTR|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator						negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					tctgtgtctgggacccagctg	0.333																																					.		.											.	.	.	0			.						.																																			SO:0001624	3_prime_UTR_variant	267012	.			TGTCTGGGACCCA	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.*91G>C	13.37:g.106142521G>C		Somatic	10	0		WXS	Illumina HiSeq	.	24	12	.	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	RNA	SNP	ENST00000375936.3	37	CCDS41905.1																																																																																			.		0.333	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2	NM_172370	
DPYSL4	10570	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	134006179	134006179	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr10:134006179T>C	ENST00000338492.4	+	3	310	c.146T>C	c.(145-147)cTc>cCc	p.L49P	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_5'Flank|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	49					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAGAAAACCTCATCGTCCCT	0.577																																					p.L49P		.											.	.	.	0			c.T146C						.						92.0	84.0	87.0					10																	134006179		2202	4300	6502	SO:0001583	missense	10570	exon3			AAAACCTCATCGT	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.146T>C	10.37:g.134006179T>C	ENSP00000339850:p.Leu49Pro	Somatic	37	0		WXS	Illumina HiSeq	.	45	5	NM_006426	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249496	0.80024	.	.	ENSG00000151640	ENST00000338492	D	0.88124	-2.34	4.92	4.92	0.64577	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.93061	0.7791	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93987	0.7263	10	0.87932	D	0	-25.2141	14.8073	0.69968	0.0:0.0:0.0:1.0	.	49	O14531	DPYL4_HUMAN	P	49	ENSP00000339850:L49P	ENSP00000339850:L49P	L	+	2	0	DPYSL4	133856169	1.000000	0.71417	0.969000	0.41365	0.877000	0.50540	5.721000	0.68477	2.078000	0.62432	0.529000	0.55759	CTC	.		0.577	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2		
SF3A2	8175	hgsc.bcm.edu	37	19	2248149	2248149	+	Silent	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:2248149T>C	ENST00000221494.5	+	9	1417	c.999T>C	c.(997-999)gcT>gcC	p.A333A	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	333	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		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)		ACCCCCCAGCTCCTGGAGTCC	0.731																																					p.A333A		.											SF3A2,colon,carcinoma,0,1	SF3A2	0	0			c.T999C						.																																			SO:0001819	synonymous_variant	8175	exon9			CCCAGCTCCTGGA	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.999T>C	19.37:g.2248149T>C		Somatic	13	1		WXS	Illumina HiSeq	.	24	7	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.		0.731	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3		
TMEFF2	23671	hgsc.bcm.edu	37	2	192815056	192815056	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:192815056G>T	ENST00000272771.5	-	10	2290	c.1106C>A	c.(1105-1107)gCg>gAg	p.A369E	AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000392314.1_3'UTR	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	369						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCTCGTGGACGCTCTTGTTGT	0.423																																					p.A369E	Pancreas(50;1277 1381 28487 47072)	.											TMEFF2,colon,carcinoma,0,1	TMEFF2	0	0			c.C1106A						.						312.0	271.0	284.0					2																	192815056		2203	4300	6503	SO:0001583	missense	23671	exon10			GTGGACGCTCTTG	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.1106C>A	2.37:g.192815056G>T	ENSP00000272771:p.Ala369Glu	Somatic	18	0		WXS	Illumina HiSeq	.	35	2	NM_016192	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619967	0.87460	.	.	ENSG00000144339	ENST00000272771	T	0.61274	0.12	5.79	5.79	0.91817	.	0.112774	0.64402	D	0.000013	T	0.64316	0.2587	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.69749	-0.5061	10	0.72032	D	0.01	-14.0507	20.0361	0.97558	0.0:0.0:1.0:0.0	.	369	Q9UIK5	TEFF2_HUMAN	E	369	ENSP00000272771:A369E	ENSP00000272771:A369E	A	-	2	0	TMEFF2	192523301	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.281000	0.95811	2.740000	0.93945	0.563000	0.77884	GCG	.		0.423	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192	
KIAA0922	23240	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	154525556	154525556	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:154525556T>G	ENST00000409663.3	+	25	3441	c.3389T>G	c.(3388-3390)tTg>tGg	p.L1130W	KIAA0922_ENST00000440693.1_Missense_Mutation_p.L1047W|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L1131W	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1130						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGCCAGACTTGCCAGAAATT	0.428																																					p.L1131W		.											.	.	.	0			c.T3392G						.						63.0	63.0	63.0					4																	154525556		2199	4291	6490	SO:0001583	missense	23240	exon25			CAGACTTGCCAGA	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3389T>G	4.37:g.154525556T>G	ENSP00000386574:p.Leu1130Trp	Somatic	42	0		WXS	Illumina HiSeq	.	60	6	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	18.14	3.556737	0.65425	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.21932	2.26;1.98;2.26;1.99	5.98	4.8	0.61643	.	0.505944	0.19426	N	0.114564	T	0.39306	0.1073	L	0.56769	1.78	0.33855	D	0.63305	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.72982	0.979;0.94;0.872	T	0.53258	-0.8464	10	0.56958	D	0.05	-15.2901	9.1182	0.36771	0.0:0.14:0.0:0.86	.	1047;1131;1130	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	W	1130;1047;1131;908	ENSP00000386574:L1130W;ENSP00000409663:L1047W;ENSP00000386787:L1131W;ENSP00000240487:L908W	ENSP00000240487:L908W	L	+	2	0	KIAA0922	154745006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.126000	0.42026	1.083000	0.41159	0.533000	0.62120	TTG	.		0.428	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
GANC	2595	hgsc.bcm.edu	37	15	42644326	42644326	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:42644326C>T	ENST00000318010.8	+	24	2974	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	912					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	CTGGGAGGTCCGCATCATATG	0.493																																					p.R912C		.											GANC,colon,carcinoma,0,1	GANC	0	0			c.C2734T						.						121.0	99.0	106.0					15																	42644326		2203	4299	6502	SO:0001583	missense	2595	exon24			GAGGTCCGCATCA	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2734C>T	15.37:g.42644326C>T	ENSP00000326227:p.Arg912Cys	Somatic	19	0		WXS	Illumina HiSeq	.	19	2	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613325	0.28712	.	.	ENSG00000214013	ENST00000318010	D	0.87179	-2.22	5.62	4.71	0.59529	.	0.651463	0.17321	N	0.178507	T	0.78792	0.4339	N	0.25647	0.755	0.29835	N	0.829689	B	0.11235	0.004	B	0.11329	0.006	T	0.72786	-0.4188	10	0.49607	T	0.09	-0.9746	8.6287	0.33906	0.0:0.8199:0.0:0.1801	.	912	Q8TET4	GANC_HUMAN	C	912	ENSP00000326227:R912C	ENSP00000326227:R912C	R	+	1	0	GANC	40431618	0.004000	0.15560	0.344000	0.25628	0.496000	0.33645	0.921000	0.28718	1.523000	0.49018	0.650000	0.86243	CGC	.		0.493	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179448317	179448317	+	Intron	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:179448317A>G	ENST00000591111.1	-	262	60877				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_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)			TGCCTATAATACTCAGCAGAA	0.358																																					.		.											.	.	.	0			.						.						60.0	54.0	56.0					2																	179448317		1863	4099	5962	SO:0001627	intron_variant	100506866	.			TATAATACTCAGC	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.60652+16T>C	2.37:g.179448317A>G		Somatic	20	0		WXS	Illumina HiSeq	.	44	24	.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	ENST00000591111.1	37																																																																																				.		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CHL1	10752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	440009	440009	+	Missense_Mutation	SNP	C	C	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:440009C>G	ENST00000256509.2	+	25	3836	c.3194C>G	c.(3193-3195)aCt>aGt	p.T1065S	CHL1_ENST00000397491.2_Missense_Mutation_p.T1049S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CGCCTAATGACTAAGAATTGG	0.393																																					p.T1065S		.											.	.	.	0			c.C3194G						.						87.0	84.0	85.0					3																	440009		2203	4300	6503	SO:0001583	missense	10752	exon25			TAATGACTAAGAA	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3194C>G	3.37:g.440009C>G	ENSP00000256509:p.Thr1065Ser	Somatic	35	0		WXS	Illumina HiSeq	.	57	40	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159090	0.57368	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.58358	0.34;0.35	5.72	5.72	0.89469	.	0.349053	0.30979	N	0.008486	T	0.40932	0.1137	L	0.27053	0.805	0.51482	D	0.99992	B;P	0.35401	0.003;0.499	B;B	0.33295	0.008;0.161	T	0.20075	-1.0286	10	0.20046	T	0.44	.	18.0416	0.89320	0.0:1.0:0.0:0.0	.	1049;1065	O00533;O00533-2	CHL1_HUMAN;.	S	1065;1049	ENSP00000256509:T1065S;ENSP00000380628:T1049S	ENSP00000256509:T1065S	T	+	2	0	CHL1	415009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.537000	0.73847	2.711000	0.92665	0.650000	0.86243	ACT	.		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
NEURL2	140825	hgsc.bcm.edu	37	20	44518856	44518856	+	Intron	SNP	A	A	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:44518856A>C	ENST00000372518.4	-	1	1038				CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CCCCACACTGAGCCAGGAGGG	0.567											OREG0012686|OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																									.		.											.	.	.	0			.						.						38.0	42.0	40.0					20																	44518856		2199	4299	6498	SO:0001627	intron_variant	140825	.			ACACTGAGCCAGG	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.742+32T>G	20.37:g.44518856A>C		Somatic	11	0	924	WXS	Illumina HiSeq	.	19	6	.	Q3KR34	RNA	SNP	ENST00000372518.4	37	CCDS13384.1																																																																																			.		0.567	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2		
UBE3B	89910	hgsc.bcm.edu	37	12	109927743	109927743	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:109927743G>T	ENST00000342494.3	+	8	1159	c.564G>T	c.(562-564)gcG>gcT	p.A188A	UBE3B_ENST00000540230.1_Silent_p.A188A|UBE3B_ENST00000280774.5_Silent_p.A188A|UBE3B_ENST00000340074.5_Silent_p.A188A|UBE3B_ENST00000434735.2_Silent_p.A188A|UBE3B_ENST00000536398.1_Silent_p.A188A|UBE3B_ENST00000537063.1_Silent_p.A188A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	188					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)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TTCGACCAGCGATGAACCACA	0.438																																					p.A188A		.											UBE3B,bladder,carcinoma,+1,1	UBE3B	+1	0			c.G564T						.						210.0	187.0	195.0					12																	109927743		2203	4300	6503	SO:0001819	synonymous_variant	89910	exon8			ACCAGCGATGAAC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.564G>T	12.37:g.109927743G>T		Somatic	19	0		WXS	Illumina HiSeq	.	46	2	NM_001270451	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	CCDS9129.1																																																																																			.		0.438	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415	
WIZ	58525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	15536231	15536231	+	Missense_Mutation	SNP	A	A	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:15536231A>C	ENST00000389282.4	-	7	4214	c.4001T>G	c.(4000-4002)cTc>cGc	p.L1334R	WIZ_ENST00000545156.1_Missense_Mutation_p.L648R|WIZ_ENST00000599910.2_Missense_Mutation_p.L651R|WIZ_ENST00000263381.7_Missense_Mutation_p.L477R|WIZ_ENST00000599686.3_Missense_Mutation_p.L518R			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1334					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGTCAGGCTGAGCTCACGAGG	0.721																																					p.L477R		.											.	.	.	0			c.T1430G						.						6.0	7.0	7.0					19																	15536231		1886	4042	5928	SO:0001583	missense	58525	exon5			AGGCTGAGCTCAC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4001T>G	19.37:g.15536231A>C	ENSP00000373933:p.Leu1334Arg	Somatic	13	0		WXS	Illumina HiSeq	.	41	16	NM_021241	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	A	18.16	3.561180	0.65538	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T	0.02974	4.09	5.15	5.15	0.70609	.	0.560068	0.17605	N	0.168265	T	0.05044	0.0135	L	0.29908	0.895	0.32958	D	0.520652	D;D;D	0.56035	0.974;0.973;0.974	P;P;P	0.53809	0.497;0.735;0.467	T	0.22836	-1.0205	10	0.72032	D	0.01	-25.681	7.6649	0.28426	0.9055:0.0:0.0945:0.0	.	1334;477;518	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	R	1334;477;518;648	ENSP00000373933:L1334R	ENSP00000263381:L477R	L	-	2	0	WIZ	15397231	0.969000	0.33509	1.000000	0.80357	0.942000	0.58702	2.770000	0.47662	1.955000	0.56771	0.528000	0.53228	CTC	.		0.721	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241	
LOC101927905	101927905	hgsc.bcm.edu	37	12	8388423	8388423	+	lincRNA	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:8388423C>A	ENST00000304751.9	+	0	413				FAM86FP_ENST00000427893.2_RNA																							CTGAATAAACCATGACAGGAC	0.522																																					.		.											.	.	.	0			.						.																																					653113	.			ATAAACCATGACA																													12.37:g.8388423C>A		Somatic	49	0		WXS	Illumina HiSeq	.	68	9	.		RNA	SNP	ENST00000304751.9	37																																																																																				.		0.522	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1		
FMNL1	752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	43322776	43322776	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:43322776C>T	ENST00000331495.3	+	22	3221	c.2885C>T	c.(2884-2886)aCg>aTg	p.T962M	MAP3K14-AS1_ENST00000588504.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.T540M|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.T962M	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	962	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GACAGCAAGACGGCTCAGGTG	0.622																																					p.T962M	GBM(164;1247 1997 8702 11086 51972)	.											.	.	.	0			c.C2885T						.						53.0	53.0	53.0					17																	43322776		2203	4300	6503	SO:0001583	missense	752	exon22			GCAAGACGGCTCA	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2885C>T	17.37:g.43322776C>T	ENSP00000329219:p.Thr962Met	Somatic	26	0		WXS	Illumina HiSeq	.	37	9	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225980	0.58668	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.18016	2.24;2.24	4.18	4.18	0.49190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.89095	3.005	0.80722	D	1	D	0.61080	0.989	P	0.58130	0.833	T	0.53215	-0.8470	10	0.51188	T	0.08	.	15.5655	0.76287	0.0:1.0:0.0:0.0	.	962	O95466	FMNL_HUMAN	M	962;962;617	ENSP00000327442:T962M;ENSP00000329219:T962M	ENSP00000327442:T962M	T	+	2	0	FMNL1	40678559	0.973000	0.33851	0.946000	0.38457	0.450000	0.32258	2.419000	0.44671	2.330000	0.79161	0.289000	0.19496	ACG	.		0.622	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
SCN4A	6329	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	62020345	62020345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:62020345G>A	ENST00000435607.1	-	23	4205	c.4129C>T	c.(4129-4131)Cag>Tag	p.Q1377*	SCN4A_ENST00000578147.1_Nonsense_Mutation_p.Q1377*	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1377					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTGGCTCTGGTTGTCTGTC	0.527																																					p.Q1377X		.											.	.	.	0			c.C4129T						.						224.0	208.0	213.0					17																	62020345		2203	4300	6503	SO:0001587	stop_gained	6329	exon23			GGCTCTGGTTGTC	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4129C>T	17.37:g.62020345G>A	ENSP00000396320:p.Gln1377*	Somatic	17	0		WXS	Illumina HiSeq	.	27	5	NM_000334	Q15478|Q16447|Q7Z6B1	Nonsense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	42	9.586902	0.99213	.	.	ENSG00000007314	ENST00000435607	.	.	.	3.87	3.87	0.44632	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3689	0.74548	0.0:0.0:1.0:0.0	.	.	.	.	X	1377	.	ENSP00000396320:Q1377X	Q	-	1	0	SCN4A	59374077	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.601000	0.98297	2.165000	0.68154	0.462000	0.41574	CAG	.		0.527	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
MMACHC	25974	hgsc.bcm.edu	37	1	45966021	45966021	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:45966021C>T	ENST00000401061.4	+	1	297	c.17C>T	c.(16-18)gCa>gTa	p.A6V	CCDC163P_ENST00000490551.3_5'Flank|CCDC163P_ENST00000432082.1_5'Flank|CCDC163P_ENST00000488405.2_5'Flank|CCDC163P_ENST00000502793.2_5'Flank	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	6					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGAAAGTCGCAGAGCTGAAG	0.512																																					p.A6V		.											.	.	.	0			c.C17T						.						212.0	210.0	211.0					1																	45966021		2005	4171	6176	SO:0001583	missense	25974	exon1			AAGTCGCAGAGCT		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.17C>T	1.37:g.45966021C>T	ENSP00000383840:p.Ala6Val	Somatic	45	0		WXS	Illumina HiSeq	.	88	4	NM_015506	Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866165	0.51588	.	.	ENSG00000132763	ENST00000401061	D	0.95447	-3.71	5.78	4.86	0.63082	.	0.375051	0.29916	N	0.010864	D	0.88310	0.6402	N	0.12471	0.22	0.37881	D	0.930385	B	0.02656	0.0	B	0.04013	0.001	D	0.83981	0.0332	10	0.31617	T	0.26	-9.4106	9.3084	0.37889	0.0:0.8374:0.0:0.1626	.	6	Q9Y4U1	MMAC_HUMAN	V	6	ENSP00000383840:A6V	ENSP00000383840:A6V	A	+	2	0	MMACHC	45738608	0.998000	0.40836	1.000000	0.80357	0.784000	0.44337	2.192000	0.42649	2.744000	0.94065	0.563000	0.77884	GCA	.		0.512	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506	
VCP	7415	hgsc.bcm.edu	37	9	35060888	35060888	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:35060888C>T	ENST00000358901.6	-	12	2287	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	464					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGGTTTCCCGCAGTGCTGATG	0.552																																					p.L464L		.											.	.	.	0			c.G1392A						.						137.0	125.0	129.0					9																	35060888		2203	4300	6503	SO:0001819	synonymous_variant	7415	exon12			TTCCCGCAGTGCT	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1392G>A	9.37:g.35060888C>T		Somatic	45	0		WXS	Illumina HiSeq	.	85	3	NM_007126	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	CCDS6573.1																																																																																			.		0.552	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126	
CAPN12	147968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39229091	39229091	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:39229091C>T	ENST00000328867.4	-	7	1165	c.857G>A	c.(856-858)gGc>gAc	p.G286D	CAPN12_ENST00000601953.1_Missense_Mutation_p.G137D|CTD-2540F13.2_ENST00000602255.1_RNA	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	286	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCCACGCAGCCCCATGGGTT	0.692																																					p.G286D		.											.	.	.	0			c.G857A						.						34.0	35.0	34.0					19																	39229091		2199	4299	6498	SO:0001583	missense	147968	exon7			ACGCAGCCCCATG	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.857G>A	19.37:g.39229091C>T	ENSP00000331636:p.Gly286Asp	Somatic	62	0		WXS	Illumina HiSeq	.	74	8	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638977	0.87760	.	.	ENSG00000182472	ENST00000328867	D	0.94330	-3.4	4.8	4.8	0.61643	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	H	0.95950	3.745	0.58432	D	0.999999	D	0.76494	0.999	D	0.69654	0.965	D	0.98886	1.0771	10	0.87932	D	0	.	15.6793	0.77354	0.0:1.0:0.0:0.0	.	286	Q6ZSI9	CAN12_HUMAN	D	286	ENSP00000331636:G286D	ENSP00000331636:G286D	G	-	2	0	CAPN12	43920931	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.388000	0.79795	2.375000	0.81037	0.462000	0.41574	GGC	.		0.692	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1		
CHD6	84181	hgsc.bcm.edu	37	20	40161871	40161871	+	Silent	SNP	C	C	T	rs61756303		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:40161871C>T	ENST00000373233.3	-	3	549	c.372G>A	c.(370-372)ccG>ccA	p.P124P	CHD6_ENST00000373222.3_Silent_p.P159P|CHD6_ENST00000309279.7_Silent_p.P124P	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	124	Lys-rich.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGGCTCTTTCGGTTCTCGTT	0.542																																					p.P124P		.											.	.	.	0			c.G372A						.						330.0	308.0	316.0					20																	40161871		2203	4300	6503	SO:0001819	synonymous_variant	84181	exon3			CTCTTTCGGTTCT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.372G>A	20.37:g.40161871C>T		Somatic	46	0		WXS	Illumina HiSeq	.	100	4	NM_032221	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																			.		0.542	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
NLRX1	79671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	119050623	119050623	+	Silent	SNP	C	C	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:119050623C>G	ENST00000409109.1	+	7	2480	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	NLRX1_ENST00000525863.1_Silent_p.L631L|NLRX1_ENST00000409265.4_Silent_p.L631L|NLRX1_ENST00000409991.1_Silent_p.L631L|NLRX1_ENST00000292199.2_Silent_p.L631L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	631	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGGGCTTCTCTCTGCCCACA	0.627																																					p.L631L		.											.	.	.	0			c.C1893G						.						49.0	52.0	51.0					11																	119050623		2200	4295	6495	SO:0001819	synonymous_variant	79671	exon7			GCTTCTCTCTGCC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1893C>G	11.37:g.119050623C>G		Somatic	17	0		WXS	Illumina HiSeq	.	19	7	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	ENST00000409109.1	37	CCDS8416.1																																																																																			.		0.627	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
ME1	4199	hgsc.bcm.edu	37	6	84061833	84061833	+	Silent	SNP	G	G	T	rs562654415		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:84061833G>T	ENST00000369705.3	-	4	504	c.388C>A	c.(388-390)Cga>Aga	p.R130R	ME1_ENST00000541327.1_5'UTR|ME1_ENST00000543031.1_Silent_p.R55R	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	130					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ATATGCCCTCGATCGTGGATA	0.343																																					p.R130R		.											ME1,mucosal,malignant_melanoma,0,1	ME1	0	0			c.C388A						.						57.0	49.0	51.0					6																	84061833		2203	4299	6502	SO:0001819	synonymous_variant	4199	exon4			GCCCTCGATCGTG	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.388C>A	6.37:g.84061833G>T		Somatic	12	0		WXS	Illumina HiSeq	.	25	2	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Silent	SNP	ENST00000369705.3	37	CCDS34492.1																																																																																			.		0.343	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52439916	52439916	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:52439916T>G	ENST00000460680.1	-	10	1267	c.796A>C	c.(796-798)Aca>Cca	p.T266P	BAP1_ENST00000296288.5_Missense_Mutation_p.T248P	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTGGCTGTGTTACTCTTATC	0.507			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															p.T266P	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	.	.	.	0			c.A796C						.						60.0	61.0	61.0					3																	52439916		2203	4300	6503	SO:0001583	missense	8314	exon10			GCTGTGTTACTCT	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.796A>C	3.37:g.52439916T>G	ENSP00000417132:p.Thr266Pro	Somatic	17	0		WXS	Illumina HiSeq	.	18	11	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192098	0.78902	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.58652	0.32;0.34	5.35	5.35	0.76521	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.047616	0.85682	D	0.000000	T	0.68284	0.2984	L	0.59436	1.845	0.80722	D	1	D	0.60575	0.988	P	0.58577	0.841	T	0.67764	-0.5586	10	0.38643	T	0.18	-6.369	15.6343	0.76937	0.0:0.0:0.0:1.0	.	266	Q92560	BAP1_HUMAN	P	266;248	ENSP00000417132:T266P;ENSP00000296288:T248P	ENSP00000296288:T248P	T	-	1	0	BAP1	52414956	1.000000	0.71417	0.690000	0.30148	0.987000	0.75469	5.425000	0.66470	2.152000	0.67230	0.459000	0.35465	ACA	.		0.507	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		
ELANE	1991	hgsc.bcm.edu	37	19	853306	853306	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:853306C>T	ENST00000590230.1	+	4	410	c.269C>T	c.(268-270)tCg>tTg	p.S90L	ELANE_ENST00000263621.1_Missense_Mutation_p.S90L			P08246	ELNE_HUMAN	elastase, neutrophil expressed	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAACCTCTCGCGGCGGGAG	0.692																																					p.S90L		.											.	.	.	0			c.C269T						.						16.0	17.0	17.0					19																	853306		2187	4276	6463	SO:0001583	missense	1991	exon3			ACCTCTCGCGGCG		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.269C>T	19.37:g.853306C>T	ENSP00000466090:p.Ser90Leu	Somatic	6	0		WXS	Illumina HiSeq	.	9	5	NM_001972	P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	C	2.905	-0.226576	0.06022	.	.	ENSG00000197561	ENST00000263621	D	0.89123	-2.47	3.38	-0.314	0.12750	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.353210	0.03753	U	0.256843	D	0.82604	0.5073	L	0.39085	1.19	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.64537	-0.6384	10	0.30854	T	0.27	.	5.4948	0.16797	0.1186:0.4:0.4814:0.0	.	90	P08246	ELNE_HUMAN	L	90	ENSP00000263621:S90L	ENSP00000263621:S90L	S	+	2	0	ELANE	804306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.162000	0.10012	0.063000	0.16370	-1.245000	0.01525	TCG	.		0.692	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2	NM_001972	
RPS6KA2	6196	hgsc.bcm.edu	37	6	166918040	166918040	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:166918040G>T	ENST00000265678.4	-	6	743	c.520C>A	c.(520-522)Cat>Aat	p.H174N	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.H85N|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.H85N|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.H20N|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.H199N|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.H182N	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	174	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.H174I(1)|p.H182I(1)|p.H182N(1)|p.H174N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTGTGGAGATGGTCTAAAGCC	0.448																																					p.H182N		.											RPS6KA2_ENST00000503859,NS,carcinoma,+1,2	RPS6KA2_ENST00000503859	+1	4	Substitution - Missense(4)	lung(4)	c.C544A						.						137.0	123.0	128.0					6																	166918040		2203	4300	6503	SO:0001583	missense	6196	exon7			GGAGATGGTCTAA	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.520C>A	6.37:g.166918040G>T	ENSP00000265678:p.His174Asn	Somatic	27	0		WXS	Illumina HiSeq	.	38	2	NM_001006932	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014058	0.75161	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189;ENST00000366863;ENST00000507350;ENST00000512860	T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.81942	2.565	0.80722	D	1	D;D;D	0.76494	0.994;0.969;0.999	D;D;D	0.85130	0.971;0.912;0.997	D	0.83410	0.0027	10	0.87932	D	0	.	17.35	0.87321	0.0:0.0:1.0:0.0	.	199;182;174	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	N	174;199;182;85;85;20;85;85	ENSP00000265678:H174N;ENSP00000422435:H199N;ENSP00000427015:H182N;ENSP00000422484:H85N;ENSP00000386050:H85N;ENSP00000355828:H20N;ENSP00000422197:H85N;ENSP00000427605:H85N	ENSP00000265678:H174N	H	-	1	0	RPS6KA2	166838030	1.000000	0.71417	0.947000	0.38551	0.495000	0.33615	9.123000	0.94387	2.350000	0.79820	0.484000	0.47621	CAT	.		0.448	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
TSG101	7251	hgsc.bcm.edu	37	11	18536390	18536390	+	Splice_Site	SNP	T	T	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:18536390T>A	ENST00000251968.3	-	4	609		c.e4-2		TSG101_ENST00000536719.1_Splice_Site|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000543087.1_5'UTR	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATGTATTACCTGAAAAAGAAA	0.294																																					.	GBM(99;1348 1396 8611 26475 50572)	.											TSG101,NS,carcinoma,0,1	TSG101	0	1	Unknown(1)	lung(1)	c.194-2A>T						.						97.0	108.0	105.0					11																	18536390		2199	4289	6488	SO:0001630	splice_region_variant	7251	exon5			ATTACCTGAAAAA	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.194-2A>T	11.37:g.18536390T>A		Somatic	45	0		WXS	Illumina HiSeq	.	84	4	NM_006292	Q9BUM5	Splice_Site	SNP	ENST00000251968.3	37	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.505763	0.26949	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1205	0.81351	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSG101	18492966	1.000000	0.71417	0.964000	0.40570	0.166000	0.22503	7.919000	0.87513	2.205000	0.71048	0.533000	0.62120	.	.		0.294	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292	Intron
PLXNA4	91584	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	131888134	131888134	+	Missense_Mutation	SNP	C	C	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:131888134C>G	ENST00000359827.3	-	11	3305	c.2343G>C	c.(2341-2343)ttG>ttC	p.L781F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L781F			Q9HCM2	PLXA4_HUMAN	plexin A4	781					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACACGACTGTCAACTCCACGG	0.552																																					p.L781F		.											.	.	.	0			c.G2343C						.						118.0	115.0	116.0					7																	131888134		1956	4136	6092	SO:0001583	missense	91584	exon11			GACTGTCAACTCC	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2343G>C	7.37:g.131888134C>G	ENSP00000352882:p.Leu781Phe	Somatic	32	0		WXS	Illumina HiSeq	.	48	11	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534689	0.04082	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.65549	-0.16;-0.16	4.76	2.77	0.32553	.	0.000000	0.64402	D	0.000002	T	0.39118	0.1066	N	0.16307	0.4	0.53688	D	0.999971	B	0.11235	0.004	B	0.12837	0.008	T	0.12167	-1.0558	10	0.10111	T	0.7	.	9.0025	0.36090	0.0:0.6413:0.2812:0.0775	.	781	Q9HCM2	PLXA4_HUMAN	F	781	ENSP00000323194:L781F;ENSP00000352882:L781F	ENSP00000323194:L781F	L	-	3	2	PLXNA4	131538674	1.000000	0.71417	0.952000	0.39060	0.754000	0.42855	1.483000	0.35497	1.098000	0.41479	0.561000	0.74099	TTG	.		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CSN1S2AP	286828	hgsc.bcm.edu	37	4	70939774	70939774	+	RNA	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:70939774G>T	ENST00000451783.1	+	0	215					NR_003720.1				casein alpha s2-like A, pseudogene																		CTAAAATTATGTAGAGACAAT	0.303																																					.		.											.	.	.	0			.						.																																					286828	.			AATTATGTAGAGA	AY154892		4q13.3	2010-10-28	2010-10-28	2010-10-28	ENSG00000234124	ENSG00000234124			20230	pseudogene	pseudogene			"""casein alpha s2-like A"""	CSN1S2A		13679022	Standard	NR_003720		Approved		uc003hez.3		OTTHUMG00000160842		4.37:g.70939774G>T		Somatic	35	0		WXS	Illumina HiSeq	.	71	4	.		RNA	SNP	ENST00000451783.1	37																																																																																				.		0.303	CSN1S2AP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362615.1	XM_379270	
IARS2	55699	hgsc.bcm.edu	37	1	220269438	220269438	+	Intron	SNP	T	T	A	rs202120344|rs201594568	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:220269438T>A	ENST00000302637.5	+	2	371				IARS2_ENST00000366922.1_Intron	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TTTTTTTTTTTAAAACAGAAA	0.313													t|||	2	0.000399361	0.0	0.0	5008	,	,		16437	0.0		0.0	False		,,,				2504	0.002				.		.											.	.	.	0			.						.						29.0	31.0	30.0					1																	220269438		2200	4299	6499	SO:0001627	intron_variant	26828	.			TTTTTTTAAAACA	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.268-8T>A	1.37:g.220269438T>A		Somatic	31	0		WXS	Illumina HiSeq	.	84	4	.	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	RNA	SNP	ENST00000302637.5	37	CCDS1523.1																																																																																			0.001		0.313	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
SF3A2	8175	hgsc.bcm.edu	37	19	2248143	2248143	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:2248143C>T	ENST00000221494.5	+	9	1411	c.993C>T	c.(991-993)ccC>ccT	p.P331P	MIR4321_ENST00000592276.1_RNA|AMH_ENST00000221496.4_5'Flank	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	331	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		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)		GGGTCCACCCCCCAGCTCCTG	0.731																																					p.P331P		.											.	.	.	0			c.C993T						.						2.0	3.0	3.0					19																	2248143		1718	3530	5248	SO:0001819	synonymous_variant	8175	exon9			CCACCCCCCAGCT	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.993C>T	19.37:g.2248143C>T		Somatic	12	0		WXS	Illumina HiSeq	.	25	7	NM_007165	B2RBU1|D6W605|O75245	Silent	SNP	ENST00000221494.5	37	CCDS12084.1																																																																																			.		0.731	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3		
BAP1	8314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	52439930	52439930	+	Splice_Site	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:52439930T>C	ENST00000460680.1	-	10	1255		c.e10-2		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTTATCAGCTAACAACAGAA	0.512			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															.	GBM(101;493 1458 7992 21037 25532)	.		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	BAP1,colon,carcinoma,0,3	BAP1	0	1	Unknown(1)	pleura(1)	c.784-2A>G						.						54.0	56.0	55.0					3																	52439930		2203	4300	6503	SO:0001630	splice_region_variant	8314	exon11			ATCAGCTAACAAC	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.784-2A>G	3.37:g.52439930T>C		Somatic	16	0		WXS	Illumina HiSeq	.	20	12	NM_004656	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954016	0.73902	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1082	0.81241	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52414970	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.425000	0.66470	2.268000	0.75426	0.459000	0.35465	.	.		0.512	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		Intron
RNF14	9604	hgsc.bcm.edu	37	5	141353306	141353306	+	Splice_Site	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:141353306C>T	ENST00000394520.2	+	3	462	c.153C>T	c.(151-153)agC>agT	p.S51S	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000540015.1_Splice_Site_p.S51S|RNF14_ENST00000394515.3_Splice_Site_p.S51S|RNF14_ENST00000394519.1_Splice_Site_p.S51S|RNF14_ENST00000356143.1_Splice_Site_p.S51S|RNF14_ENST00000347642.3_Splice_Site_p.S51S|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TATTTGTGAGCGGTTAGTTAA	0.318																																					p.S51S		.											RNF14,NS,carcinoma,0,1	RNF14	0	0			c.C153T						.						54.0	57.0	56.0					5																	141353306		2201	4300	6501	SO:0001630	splice_region_variant	9604	exon3			TGTGAGCGGTTAG	AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.154+1C>T	5.37:g.141353306C>T		Somatic	48	0		WXS	Illumina HiSeq	.	95	4	NM_001201365	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Silent	SNP	ENST00000394520.2	37	CCDS4270.1																																																																																			.		0.318	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290	Silent
SSX6	280657	hgsc.bcm.edu	37	X	47972356	47972356	+	IGR	SNP	A	A	C	rs11402335|rs11453898|rs201636851		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chrX:47972356A>C								snoU13 (31117 upstream) : SSX6 (4109 downstream)																							ATGGGGTTTAACCCCATTTGA	0.328																																					.		.											.	.	.	0			.						.																																			SO:0001628	intergenic_variant	280657	.			GGTTTAACCCCAT																													X.37:g.47972356A>C		Somatic	15	0		WXS	Illumina HiSeq	.	37	0	.		RNA	SNP		37																																																																																				.	0	0.328								
SNED1	25992	hgsc.bcm.edu	37	2	241979571	241979571	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:241979571C>T	ENST00000310397.8	+	7	1125	c.1125C>T	c.(1123-1125)tgC>tgT	p.C375C	SNED1_ENST00000342631.6_Silent_p.C375C|SNED1_ENST00000401884.1_Silent_p.C375C|SNED1_ENST00000405547.3_Silent_p.C375C|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	375	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGTGTGTGCCAGGCCGGAT	0.632																																					p.C375C		.											SNED1,NS,carcinoma,0,1	SNED1	0	0			c.C1125T						.						33.0	40.0	37.0					2																	241979571		2136	4239	6375	SO:0001819	synonymous_variant	25992	exon7			TGTGTGCCAGGCC	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1125C>T	2.37:g.241979571C>T		Somatic	24	0		WXS	Illumina HiSeq	.	39	2	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.402|1.402	-0.577857|-0.577857	0.03854|0.03854	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	4.73|4.73	2.88|2.88	0.33553|0.33553	.|.	.|.	.|.	.|.	.|.	T|T	0.55752|0.55752	0.1940|0.1940	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50048|0.50048	-0.8873|-0.8873	4|4	.|.	.|.	.|.	.|.	7.2772|7.2772	0.26292|0.26292	0.0:0.7194:0.0:0.2806|0.0:0.7194:0.0:0.2806	.|.	.|.	.|.	.|.	V|S	33|72	.|.	.|.	A|P	+|+	2|1	0|0	SNED1|SNED1	241628244|241628244	0.895000|0.895000	0.30542|0.30542	0.757000|0.757000	0.31301|0.31301	0.005000|0.005000	0.04900|0.04900	0.488000|0.488000	0.22371|0.22371	0.923000|0.923000	0.37045|0.37045	0.591000|0.591000	0.81541|0.81541	GCC|CCA	.		0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
CTTNBP2NL	55917	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	112999056	112999056	+	Silent	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:112999056A>G	ENST00000271277.6	+	6	1167	c.942A>G	c.(940-942)acA>acG	p.T314T		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	314					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCCAAACAGAGAGTTTTC	0.478																																					p.T314T		.											.	.	.	0			c.A942G						.						129.0	133.0	132.0					1																	112999056		2203	4300	6503	SO:0001819	synonymous_variant	55917	exon6			CCAAACAGAGAGT	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.942A>G	1.37:g.112999056A>G		Somatic	15	0		WXS	Illumina HiSeq	.	20	4	NM_018704	B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	CCDS845.1																																																																																			.		0.478	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704	
YAF2	10138	hgsc.bcm.edu;bcgsc.ca	37	12	42555512	42555512	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:42555512G>A	ENST00000534854.2	-	3	275	c.208C>T	c.(208-210)Cct>Tct	p.P70S	YAF2_ENST00000380788.3_Missense_Mutation_p.P61S|YAF2_ENST00000442791.3_Missense_Mutation_p.P94S|YAF2_ENST00000327791.4_Intron|YAF2_ENST00000380790.4_Missense_Mutation_p.P28S	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	70					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TGTGTAGGAGGCACAAACTGC	0.358																																					p.P94S		.											.	.	.	0			c.C280T						.						93.0	93.0	93.0					12																	42555512		2203	4300	6503	SO:0001583	missense	10138	exon4			TAGGAGGCACAAA	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.208C>T	12.37:g.42555512G>A	ENSP00000439256:p.Pro70Ser	Somatic	32	0		WXS	Illumina HiSeq	.	85	5	NM_001190979	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	G	9.459	1.092525	0.20471	.	.	ENSG00000015153	ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788;ENST00000548917	.	.	.	5.73	5.73	0.89815	.	0.115168	0.64402	D	0.000012	T	0.49115	0.1538	N	0.20685	0.6	0.80722	D	1	B;B;B	0.22276	0.004;0.067;0.002	B;B;B	0.18871	0.005;0.023;0.002	T	0.41142	-0.9525	9	0.15952	T	0.53	.	19.8863	0.96913	0.0:0.0:1.0:0.0	.	28;61;70	B4DFU3;A6NL56;Q8IY57	.;.;YAF2_HUMAN	S	94;70;28;61;31	.	ENSP00000370165:P61S	P	-	1	0	YAF2	40841779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.257000	0.51500	2.688000	0.91661	0.650000	0.86243	CCT	.		0.358	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1		
ISLR2	57611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	74425467	74425467	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:74425467G>A	ENST00000361742.3	+	4	1141	c.372G>A	c.(370-372)gcG>gcA	p.A124A	ISLR2_ENST00000445793.1_Silent_p.A124A|ISLR2_ENST00000453268.2_Silent_p.A124A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A124A|ISLR2_ENST00000565540.1_Silent_p.A124A|ISLR2_ENST00000435464.1_Silent_p.A124A|ISLR2_ENST00000419208.1_Silent_p.A124A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	124					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A124A(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ACCTGAGCGCGCTGCAGCTGC	0.617																																					p.A124A		.											ISLR2,NS,carcinoma,0,1	ISLR2	0	1	Substitution - coding silent(1)	endometrium(1)	c.G372A						.						69.0	69.0	69.0					15																	74425467		2198	4297	6495	SO:0001819	synonymous_variant	57611	exon4			GAGCGCGCTGCAG		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.372G>A	15.37:g.74425467G>A		Somatic	17	0		WXS	Illumina HiSeq	.	15	4	NM_001130138	A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	CCDS10259.1																																																																																			.		0.617	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
ZNF99	7652	hgsc.bcm.edu;bcgsc.ca	37	19	22952120	22952120	+	Silent	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:22952120A>G	ENST00000596209.1	-	2	100	c.10T>C	c.(10-12)Ttg>Ctg	p.L4L	ZNF99_ENST00000397104.3_Silent_p.L25L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	4	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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAAAATGTCAACGATCCCTGA	0.383																																					p.L4L		.											.	.	.	0			c.T10C						.						67.0	73.0	71.0					19																	22952120		2193	4299	6492	SO:0001819	synonymous_variant	7652	exon2			ATGTCAACGATCC	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.10T>C	19.37:g.22952120A>G		Somatic	52	0		WXS	Illumina HiSeq	.	91	4	NM_001080409	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																			.		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
MUC4	4585	hgsc.bcm.edu	37	3	195506579	195506579	+	Missense_Mutation	SNP	T	T	C	rs200317787|rs71291866	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:195506579T>C	ENST00000463781.3	-	2	12331	c.11872A>G	c.(11872-11874)Act>Gct	p.T3958A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3958A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAGTGTCGGTGACA	0.597																																					p.T3958A		.											MUC4_ENST00000463781,NS,carcinoma,0,1	MUC4_ENST00000463781	0	0			c.A11872G						.						17.0	11.0	13.0					3																	195506579		678	1521	2199	SO:0001583	missense	4585	exon2			AGGAAGTGTCGGT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11872A>G	3.37:g.195506579T>C	ENSP00000417498:p.Thr3958Ala	Somatic	12	1		WXS	Illumina HiSeq	.	15	5	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.312	-0.967054	0.02232	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.41;1.5	.	.	.	.	.	.	.	.	T	0.13586	0.0329	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.20240	-1.0281	7	.	.	.	.	4.0904	0.09967	0.0:1.0E-4:0.3498:0.6501	.	3830	E7ESK3	.	A	3958	ENSP00000417498:T3958A;ENSP00000420243:T3958A	.	T	-	1	0	MUC4	196991358	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.372000	0.07504	-2.418000	0.00566	-2.418000	0.00219	ACT	.		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
SRPR	6734	hgsc.bcm.edu	37	11	126134923	126134923	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:126134923T>C	ENST00000332118.6	-	11	1610	c.1456A>G	c.(1456-1458)Atg>Gtg	p.M486V	SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_Missense_Mutation_p.M458V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	486					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AACTGCACCATGGTGCGGCCA	0.557																																					p.M486V		.											SRPR,NS,carcinoma,0,1	SRPR	0	0			c.A1456G						.						65.0	59.0	61.0					11																	126134923		2201	4299	6500	SO:0001583	missense	6734	exon11			GCACCATGGTGCG	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1456A>G	11.37:g.126134923T>C	ENSP00000328023:p.Met486Val	Somatic	36	0		WXS	Illumina HiSeq	.	43	2	NM_003139	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.139091	0.37728	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.121725	0.85682	D	0.000000	T	0.41558	0.1164	N	0.16066	0.365	0.54753	D	0.999985	B;B	0.17038	0.02;0.02	B;B	0.21360	0.034;0.034	T	0.25117	-1.0141	9	0.23891	T	0.37	-24.8843	15.3398	0.74287	0.0:0.0:0.0:1.0	.	458;486	E9PJS4;P08240	.;SRPR_HUMAN	V	486;458	.	ENSP00000328023:M486V	M	-	1	0	SRPR	125640133	0.998000	0.40836	0.985000	0.45067	0.979000	0.70002	2.846000	0.48262	2.215000	0.71742	0.528000	0.53228	ATG	.		0.557	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139	
COL5A1	1289	hgsc.bcm.edu	37	9	137582891	137582891	+	Silent	SNP	G	G	A	rs540291731		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:137582891G>A	ENST00000371817.3	+	2	657	c.243G>A	c.(241-243)gcG>gcA	p.A81A	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	81	Laminin G-like.				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)		CCAAAGACGCGCAGCTCAGCG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		17314	0.0		0.0	False		,,,				2504	0.001				p.A81A		.											COL5A1,NS,carcinoma,0,1	COL5A1	0	0			c.G243A						.						86.0	75.0	79.0					9																	137582891		2203	4300	6503	SO:0001819	synonymous_variant	1289	exon2			AGACGCGCAGCTC	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.243G>A	9.37:g.137582891G>A		Somatic	22	0		WXS	Illumina HiSeq	.	41	3	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																			.		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
SNORA71B	26776	hgsc.bcm.edu	37	20	37053904	37053904	+	lincRNA	SNP	C	C	T	rs545946038		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:37053904C>T	ENST00000364546.1	-	0	75				SNORA71A_ENST00000364729.1_RNA					small nucleolar RNA, H/ACA box 71B																		CACGGGGAAGCGCTTTCATTG	0.498																																					.		.											.	.	.	0			.						.						144.0	132.0	136.0					20																	37053904		876	1991	2867			26776	.			GGGAAGCGCTTTC	Y11166		20q11.23	2013-09-05	2006-04-05	2006-04-05	ENSG00000201416	ENSG00000235408		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10233	non-coding RNA	RNA, small nucleolar			"""RNA, U71B small nucleolar"""	RNU71B		9106664	Standard	NR_002910		Approved	U71b	uc002xik.2		OTTHUMG00000032446		20.37:g.37053904C>T		Somatic	39	0		WXS	Illumina HiSeq	.	76	4	.		RNA	SNP	ENST00000364546.1	37																																																																																				.		0.498	SNORA71B-201	KNOWN	basic	snoRNA	lincRNA		NR_002910	
ZCWPW1	55063	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	100014767	100014767	+	Missense_Mutation	SNP	G	G	A	rs370621347		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:100014767G>A	ENST00000398027.2	-	6	648	c.401C>T	c.(400-402)gCc>gTc	p.A134V	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.A134V|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.A13V|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.A13V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	134							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACGGGCTGGGCACAAGAAGT	0.423																																					p.A134V		.											ZCWPW1,NS,carcinoma,0,1	ZCWPW1	0	0			c.C401T						.						125.0	115.0	118.0					7																	100014767		1883	4107	5990	SO:0001583	missense	55063	exon6			GGCTGGGCACAAG	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.401C>T	7.37:g.100014767G>A	ENSP00000381109:p.Ala134Val	Somatic	35	0		WXS	Illumina HiSeq	.	67	4	NM_001258008	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	G	3.732	-0.055348	0.07362	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000379559	T;T;T;T	0.39406	1.11;1.13;1.08;1.13	4.48	2.47	0.30058	.	0.924705	0.08995	N	0.863890	T	0.29945	0.0749	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.20887	0.029;0.01;0.01;0.01;0.049	B;B;B;B;B	0.20184	0.008;0.007;0.005;0.005;0.028	T	0.23476	-1.0187	9	.	.	.	-0.028	4.798	0.13282	0.3475:0.0:0.6525:0.0	.	134;94;135;134;13	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	V	134;13;134;13;135	ENSP00000381109:A134V;ENSP00000419187:A13V;ENSP00000354210:A134V;ENSP00000314880:A13V	.	A	-	2	0	ZCWPW1	99852703	0.990000	0.36364	0.424000	0.26647	0.511000	0.34104	1.146000	0.31589	1.063000	0.40649	0.643000	0.83706	GCC	.		0.423	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
GNA15	2769	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	3157762	3157762	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:3157762A>G	ENST00000262958.3	+	6	1039	c.781A>G	c.(781-783)Atc>Gtc	p.I261V	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	261					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTTTGGGACTATCCTGGAACT	0.532																																					p.I261V		.											.	.	.	0			c.A781G						.						260.0	217.0	231.0					19																	3157762		2203	4300	6503	SO:0001583	missense	2769	exon6			GGGACTATCCTGG		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.781A>G	19.37:g.3157762A>G	ENSP00000262958:p.Ile261Val	Somatic	64	0		WXS	Illumina HiSeq	.	113	7	NM_002068	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377568	0.24944	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.62	3.6	0.41247	.	0.071575	0.53938	D	0.000048	D	0.84092	0.5396	L	0.39085	1.19	0.35765	D	0.820458	B	0.19583	0.037	B	0.32090	0.14	T	0.81818	-0.0758	10	0.66056	D	0.02	.	8.4183	0.32685	0.9046:0.0:0.0954:0.0	.	261	P30679	GNA15_HUMAN	V	261	ENSP00000262958:I261V	ENSP00000262958:I261V	I	+	1	0	GNA15	3108762	1.000000	0.71417	0.755000	0.31263	0.244000	0.25665	5.923000	0.70045	0.648000	0.30732	0.445000	0.29226	ATC	.		0.532	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068	
CFAP74	85452	hgsc.bcm.edu	37	1	1920371	1920371	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:1920371G>T	ENST00000434971.2	-	3	141	c.109C>A	c.(109-111)Ctt>Att	p.L37I				Q69YW0	CA222_HUMAN		263										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCTGTAGAAGACATTTGATG	0.498																																					p.L37I		.											KIAA1751,NS,carcinoma,0,1	KIAA1751	0	0			c.C109A						.						53.0	56.0	55.0					1																	1920371		1850	4087	5937	SO:0001583	missense	85452	exon3			GTAGAAGACATTT																												ENST00000434971.2:c.109C>A	1.37:g.1920371G>T	ENSP00000408078:p.Leu37Ile	Somatic	67	0		WXS	Illumina HiSeq	.	64	2	NM_001080484		Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	g	7.632	0.679098	0.14907	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.52057	0.68;0.69	3.4	0.295	0.15752	.	.	.	.	.	T	0.29423	0.0733	N	0.24115	0.695	0.09310	N	1	B;B	0.18968	0.032;0.032	B;B	0.19391	0.025;0.009	T	0.20472	-1.0274	9	0.35671	T	0.21	.	5.4572	0.16598	0.1223:0.4338:0.4439:0.0	.	37;37	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	I	37;28;37	ENSP00000367853:L28I;ENSP00000408078:L37I	ENSP00000270720:L37I	L	-	1	0	C1orf222	1910231	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.582000	0.05814	0.083000	0.17047	0.632000	0.83419	CTT	.		0.498	C1orf222-201	KNOWN	basic	protein_coding	protein_coding			
TRAF3IP1	26146	hgsc.bcm.edu	37	2	239242655	239242655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:239242655C>T	ENST00000373327.4	+	7	1264	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.R348*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.R348*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	348	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ATCAAAACGGCGATCCAAAAA	0.294																																					p.R348X		.											.	.	.	0			c.C1042T						.						56.0	55.0	55.0					2																	239242655		2202	4300	6502	SO:0001587	stop_gained	26146	exon7			AAACGGCGATCCA	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1042C>T	2.37:g.239242655C>T	ENSP00000362424:p.Arg348*	Somatic	59	0		WXS	Illumina HiSeq	.	94	3	NM_015650	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	ENST00000373327.4	37	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369944	0.95900	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	.	.	.	4.55	4.55	0.56014	.	0.454048	0.21438	N	0.074526	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.034	14.0288	0.64601	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	ENSP00000362424:R348X	R	+	1	2	TRAF3IP1	238907394	0.894000	0.30519	0.059000	0.19551	0.059000	0.15707	0.892000	0.28322	2.081000	0.62600	0.491000	0.48974	CGA	.		0.294	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650	
FLG	2312	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	152283924	152283924	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:152283924G>A	ENST00000368799.1	-	3	3473	c.3438C>T	c.(3436-3438)caC>caT	p.H1146H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1146	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCTGCTCGTGGTGGGATC	0.602									Ichthyosis																												p.H1146H		.											.	.	.	0			c.C3438T						.						180.0	217.0	205.0					1																	152283924		2203	4296	6499	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	CTGCTCGTGGTGG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3438C>T	1.37:g.152283924G>A		Somatic	51	0		WXS	Illumina HiSeq	.	110	44	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																			.		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
Unknown	0	hgsc.bcm.edu	37	16	33504517	33504517	+	IGR	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:33504517A>G								BMS1P8 (5425 upstream) : IGHV3OR16-12 (100713 downstream)																							GCTACGACAAAGTCATACCTG	0.478																																					.		.											.	.	.	0			.						.																																			SO:0001628	intergenic_variant	100873777	.			CGACAAAGTCATA																													16.37:g.33504517A>G		Somatic	76	0		WXS	Illumina HiSeq	.	137	24	.		RNA	SNP		37																																																																																				.	0	0.478								
ADK	132	hgsc.bcm.edu;bcgsc.ca	37	10	76285055	76285055	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr10:76285055G>T	ENST00000286621.2	+	7	647	c.597G>T	c.(595-597)gtG>gtT	p.V199V	RP11-46O21.2_ENST00000595410.1_RNA|ADK_ENST00000539909.1_Intron|RP11-46O21.2_ENST00000448214.3_RNA|RP11-46O21.2_ENST00000609392.1_RNA|ADK_ENST00000372734.3_Silent_p.V182V|ADK_ENST00000541550.1_Silent_p.V164V	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	199					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	TATTAAAGGTGGCTCACCATG	0.393																																					p.V199V		.											.	.	.	0			c.G597T						.						144.0	146.0	145.0					10																	76285055		2203	4300	6503	SO:0001819	synonymous_variant	132	exon7			AAAGGTGGCTCAC	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.597G>T	10.37:g.76285055G>T		Somatic	26	0		WXS	Illumina HiSeq	.	49	4	NM_006721	B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Silent	SNP	ENST00000286621.2	37	CCDS7343.1																																																																																			.		0.393	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721	
NCKAP1L	3071	hgsc.bcm.edu	37	12	54917650	54917650	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:54917650C>A	ENST00000293373.6	+	20	2145	c.2066C>A	c.(2065-2067)aCa>aAa	p.T689K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T639K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	689					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCACTGACAATGAATCAT	0.463																																					p.T689K		.											.	.	.	0			c.C2066A						.						169.0	141.0	151.0					12																	54917650		2203	4300	6503	SO:0001583	missense	3071	exon20			CACTGACAATGAA	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2066C>A	12.37:g.54917650C>A	ENSP00000293373:p.Thr689Lys	Somatic	26	0		WXS	Illumina HiSeq	.	64	4	NM_005337	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339628	0.60963	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30182	1.54;1.54	4.76	4.76	0.60689	.	0.442765	0.24523	N	0.037793	T	0.21347	0.0514	N	0.08118	0	0.37427	D	0.913855	P	0.34587	0.458	B	0.38056	0.264	T	0.33317	-0.9873	10	0.87932	D	0	-0.632	16.1086	0.81244	0.0:1.0:0.0:0.0	.	689	P55160	NCKPL_HUMAN	K	689;639	ENSP00000293373:T689K;ENSP00000445596:T639K	ENSP00000293373:T689K	T	+	2	0	NCKAP1L	53203917	0.908000	0.30866	1.000000	0.80357	0.754000	0.42855	4.180000	0.58296	2.565000	0.86533	0.655000	0.94253	ACA	.		0.463	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
NUP210	23225	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	13383292	13383292	+	Missense_Mutation	SNP	T	T	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:13383292T>G	ENST00000254508.5	-	23	3266	c.3184A>C	c.(3184-3186)Aat>Cat	p.N1062H	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1062					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGCTTTATTGGTCACACTT	0.532																																					p.N1062H		.											.	.	.	0			c.A3184C						.						180.0	146.0	158.0					3																	13383292		2203	4300	6503	SO:0001583	missense	23225	exon23			CTTTATTGGTCAC	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3184A>C	3.37:g.13383292T>G	ENSP00000254508:p.Asn1062His	Somatic	25	0		WXS	Illumina HiSeq	.	32	19	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	9.880	1.201279	0.22121	.	.	ENSG00000132182	ENST00000254508	T	0.05447	3.44	5.64	3.81	0.43845	.	0.058619	0.64402	D	0.000003	T	0.03178	0.0093	N	0.03608	-0.345	0.29204	N	0.875033	P	0.34837	0.472	B	0.30943	0.122	T	0.21895	-1.0232	10	0.66056	D	0.02	-10.2122	12.0653	0.53583	0.0:0.8789:0.0:0.1211	.	1062	Q8TEM1	PO210_HUMAN	H	1062	ENSP00000254508:N1062H	ENSP00000254508:N1062H	N	-	1	0	NUP210	13358292	0.999000	0.42202	0.010000	0.14722	0.001000	0.01503	4.142000	0.58044	0.738000	0.32606	-1.114000	0.02060	AAT	.		0.532	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
ASPHD1	253982	hgsc.bcm.edu	37	16	29912808	29912808	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:29912808C>T	ENST00000308748.5	+	1	768	c.516C>T	c.(514-516)ggC>ggT	p.G172G	SEZ6L2_ENST00000346932.5_5'Flank|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|ASPHD1_ENST00000483405.1_Intron|SEZ6L2_ENST00000537485.1_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	172	Gly-rich.			G -> GG (in Ref. 2; AAI44153). {ECO:0000305}.	peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTCAGGGTGGCCCAGGCCCTG	0.682																																					p.G172G		.											.	.	.	0			c.C516T						.						30.0	33.0	32.0					16																	29912808		2194	4291	6485	SO:0001819	synonymous_variant	253982	exon1			GGGTGGCCCAGGC	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.516C>T	16.37:g.29912808C>T		Somatic	36	0		WXS	Illumina HiSeq	.	117	7	NM_181718	A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	ENST00000308748.5	37	CCDS10660.1																																																																																			.		0.682	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718	
TMEM206	55248	hgsc.bcm.edu	37	1	212538674	212538674	+	Silent	SNP	G	G	T	rs371543331	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:212538674G>T	ENST00000261455.4	-	8	1073	c.936C>A	c.(934-936)ggC>ggA	p.G312G	TMEM206_ENST00000535273.1_Silent_p.G373G	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	312						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G312G(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCAAGAAGGCGCCACAGAGAA	0.388																																					p.G373G		.											TMEM206,colon,carcinoma,0,1	TMEM206	0	1	Substitution - coding silent(1)	large_intestine(1)	c.C1119A						.						142.0	143.0	142.0					1																	212538674		2203	4300	6503	SO:0001819	synonymous_variant	55248	exon9			GAAGGCGCCACAG	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.936C>A	1.37:g.212538674G>T		Somatic	6	0		WXS	Illumina HiSeq	.	40	2	NM_001198862	B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	CCDS1504.1																																																																																			.		0.388	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252	
CCDC96	257236	hgsc.bcm.edu	37	4	7044539	7044539	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:7044539G>T	ENST00000310085.4	-	1	189	c.127C>A	c.(127-129)Ctg>Atg	p.L43M	TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	43	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TCCGACTCCAGCTCCCCGGGT	0.731																																					p.L43M		.											.	.	.	0			c.C127A						.						5.0	6.0	6.0					4																	7044539		2070	4182	6252	SO:0001583	missense	257236	exon1			ACTCCAGCTCCCC	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.127C>A	4.37:g.7044539G>T	ENSP00000309285:p.Leu43Met	Somatic	10	0		WXS	Illumina HiSeq	.	19	4	NM_153376	Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322588	0.23994	.	.	ENSG00000173013	ENST00000310085	T	0.44482	0.92	3.66	0.744	0.18353	.	1.046430	0.07689	U	0.938481	T	0.19167	0.0460	N	0.08118	0	0.09310	N	0.999999	P	0.39576	0.679	B	0.32289	0.143	T	0.12811	-1.0533	10	0.54805	T	0.06	-3.4123	5.2095	0.15308	0.2102:0.1694:0.6204:0.0	.	43	Q2M329	CCD96_HUMAN	M	43	ENSP00000309285:L43M	ENSP00000309285:L43M	L	-	1	2	CCDC96	7095440	0.002000	0.14202	0.038000	0.18304	0.026000	0.11368	-0.180000	0.09754	0.256000	0.21614	-0.373000	0.07131	CTG	.		0.731	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
DCP1B	196513	hgsc.bcm.edu	37	12	2062323	2062323	+	Silent	SNP	T	T	C	rs149912567|rs71057810|rs111543431|rs373461041		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:2062323T>C	ENST00000280665.6	-	7	862	c.783A>G	c.(781-783)caA>caG	p.Q261Q	DCP1B_ENST00000540622.1_Silent_p.Q135Q|DCP1B_ENST00000397173.4_Silent_p.Q159Q|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	261	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q261_E262insQ(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGCTTCTCTtgctgctgct	0.557																																					p.Q261Q		.											.,4	.	63	2	Insertion - In frame(2)	breast(1)|kidney(1)	c.A783G						.						38.0	43.0	42.0					12																	2062323		2203	4300	6503	SO:0001819	synonymous_variant	196513	exon7			CTTCTCTTGCTGC	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.783A>G	12.37:g.2062323T>C		Somatic	15	0		WXS	Illumina HiSeq	.	35	2	NM_152640	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Silent	SNP	ENST00000280665.6	37	CCDS31727.1																																																																																			.		0.557	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640	
CAMK1G	57172	hgsc.bcm.edu	37	1	209785272	209785272	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:209785272C>A	ENST00000009105.1	+	11	1296	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	CAMK1G_ENST00000361322.2_Missense_Mutation_p.P351T|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	351						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ACCCAGCTCCCCTGAGATCAC	0.632																																					p.P351T	Ovarian(163;530 1939 9680 28669 48710)	.											CAMK1G,NS,malignant_melanoma,0,1	CAMK1G	0	0			c.C1051A						.						90.0	95.0	93.0					1																	209785272		2203	4300	6503	SO:0001583	missense	57172	exon11			AGCTCCCCTGAGA		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1051C>A	1.37:g.209785272C>A	ENSP00000009105:p.Pro351Thr	Somatic	37	0		WXS	Illumina HiSeq	.	42	2	NM_020439	Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259795	0.59321	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.67865	-0.29;-0.29	5.46	4.53	0.55603	.	0.226746	0.31370	N	0.007766	T	0.54515	0.1863	L	0.27053	0.805	0.47905	D	0.999547	B;B	0.24132	0.098;0.0	B;B	0.23852	0.049;0.001	T	0.53599	-0.8416	10	0.54805	T	0.06	.	13.468	0.61266	0.0:0.9222:0.0:0.0778	.	351;351	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	T	351	ENSP00000009105:P351T;ENSP00000354861:P351T	ENSP00000009105:P351T	P	+	1	0	CAMK1G	207851895	0.026000	0.19158	0.996000	0.52242	0.978000	0.69477	2.148000	0.42235	1.254000	0.44035	0.558000	0.71614	CCT	.		0.632	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
FMN2	56776	hgsc.bcm.edu;broad.mit.edu	37	1	240371625	240371625	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:240371625G>A	ENST00000319653.9	+	5	3743	c.3513G>A	c.(3511-3513)gcG>gcA	p.A1171A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1171	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.687																																					p.A1171A		.											.	.	.	0			c.G3513A						.						8.0	10.0	9.0					1																	240371625		2181	4257	6438	SO:0001819	synonymous_variant	56776	exon5			CGGAGCGGGCATA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3513G>A	1.37:g.240371625G>A		Somatic	69	0		WXS	Illumina HiSeq	.	124	5	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
FMN2	56776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	240374462	240374462	+	Nonsense_Mutation	SNP	T	T	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:240374462T>A	ENST00000319653.9	+	6	4222	c.3992T>A	c.(3991-3993)tTa>tAa	p.L1331*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1331	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTGAGGAATTATTTTCTAAA	0.313																																					p.L1331X		.											.	.	.	0			c.T3992A						.						99.0	103.0	102.0					1																	240374462		2203	4300	6503	SO:0001587	stop_gained	56776	exon6			AGGAATTATTTTC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3992T>A	1.37:g.240374462T>A	ENSP00000318884:p.Leu1331*	Somatic	26	0		WXS	Illumina HiSeq	.	56	22	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	46	12.185989	0.99644	.	.	ENSG00000155816	ENST00000319653	.	.	.	4.49	4.49	0.54785	.	0.000000	0.45361	D	0.000368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8153	0.63287	0.0:0.0:0.0:1.0	.	.	.	.	X	1331	.	ENSP00000318884:L1331X	L	+	2	0	FMN2	238441085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	1.669000	0.50854	0.533000	0.62120	TTA	.		0.313	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
POLA2	23649	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	65046272	65046272	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:65046272A>G	ENST00000265465.3	+	6	1064	c.533A>G	c.(532-534)cAg>cGg	p.Q178R	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	178					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGCTTAGCACAGGGAGTATCT	0.478																																					p.Q178R		.											.	.	.	0			c.A533G						.						179.0	175.0	176.0					11																	65046272		2201	4297	6498	SO:0001583	missense	23649	exon6			TAGCACAGGGAGT	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.533A>G	11.37:g.65046272A>G	ENSP00000265465:p.Gln178Arg	Somatic	50	0		WXS	Illumina HiSeq	.	56	4	NM_002689	B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332200	0.81801	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.23552	1.9	5.59	5.59	0.84812	DNA polymerase alpha, subunit B N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	M	0.70275	2.135	0.80722	D	1	P;B	0.39717	0.684;0.183	B;B	0.35182	0.197;0.08	T	0.07214	-1.0784	10	0.15499	T	0.54	-23.1326	14.0087	0.64481	1.0:0.0:0.0:0.0	.	138;178	E9PIQ6;Q14181	.;DPOA2_HUMAN	R	178;138	ENSP00000265465:Q178R	ENSP00000265465:Q178R	Q	+	2	0	POLA2	64802848	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	5.716000	0.68437	2.250000	0.74265	0.455000	0.32223	CAG	.		0.478	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689	
LRP1	4035	hgsc.bcm.edu;ucsc.edu	37	12	57586977	57586977	+	Missense_Mutation	SNP	G	G	A	rs143045870		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:57586977G>A	ENST00000243077.3	+	46	8040	c.7574G>A	c.(7573-7575)cGa>cAa	p.R2525Q	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2525	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTCTTGCCGAGCACAAGAT	0.627																																					p.R2525Q		.											.	.	.	0			c.G7574A						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	74.0	59.0	64.0		7574	2.7	0.3	12	dbSNP_134	64	0,8600		0,0,4300	no	missense	LRP1	NM_002332.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	2525/4545	57586977	2,13004	2203	4300	6503	SO:0001583	missense	4035	exon46			CTTGCCGAGCACA	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7574G>A	12.37:g.57586977G>A	ENSP00000243077:p.Arg2525Gln	Somatic	13	0		WXS	Illumina HiSeq	.	24	11	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144485	0.57044	4.54E-4	0.0	ENSG00000123384	ENST00000243077	D	0.95588	-3.75	4.51	2.69	0.31865	.	0.283763	0.28072	N	0.016717	D	0.84692	0.5528	N	0.04297	-0.235	0.48975	D	0.999732	B	0.18741	0.03	B	0.17098	0.017	T	0.73439	-0.3982	10	0.12766	T	0.61	.	6.1486	0.20298	0.3862:0.0:0.6138:0.0	.	2525	Q07954	LRP1_HUMAN	Q	2525	ENSP00000243077:R2525Q	ENSP00000243077:R2525Q	R	+	2	0	LRP1	55873244	0.674000	0.27549	0.342000	0.25602	0.443000	0.32047	1.398000	0.34554	0.547000	0.28938	-0.192000	0.12808	CGA	0.000		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
LTN1	26046	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	30332965	30332965	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr21:30332965C>T	ENST00000361371.5	-	12	2306	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	LTN1_ENST00000389194.2_Missense_Mutation_p.E789K			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	743					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACCAATTTCTCACCAAGGATA	0.388																																					p.E789K		.											.	.	.	0			c.G2365A						.						112.0	99.0	104.0					21																	30332965		2203	4300	6503	SO:0001583	missense	26046	exon12			ATTTCTCACCAAG	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2227G>A	21.37:g.30332965C>T	ENSP00000354977:p.Glu743Lys	Somatic	50	0		WXS	Illumina HiSeq	.	74	31	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	23.9	4.468419	0.84533	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.30981	1.51;1.54	5.25	5.25	0.73442	.	0.054818	0.64402	D	0.000001	T	0.47451	0.1446	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43310	-0.9399	10	0.72032	D	0.01	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	743	O94822	LTN1_HUMAN	K	789;743	ENSP00000373846:E789K;ENSP00000354977:E743K	ENSP00000354977:E743K	E	-	1	0	LTN1	29254836	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	6.286000	0.72665	2.894000	0.99253	0.591000	0.81541	GAG	.		0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
RYR1	6261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	39006851	39006851	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:39006851C>T	ENST00000359596.3	+	65	9679	c.9679C>T	c.(9679-9681)Cgg>Tgg	p.R3227W	RYR1_ENST00000355481.4_Missense_Mutation_p.R3227W|RYR1_ENST00000360985.3_Missense_Mutation_p.R3227W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3227					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)	TCCGCGGGAGCGGGCCAGTAA	0.657																																					p.R3227W		.											.	.	.	0			c.C9679T						.						13.0	10.0	11.0					19																	39006851		2190	4282	6472	SO:0001583	missense	6261	exon65			CGGGAGCGGGCCA	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.9679C>T	19.37:g.39006851C>T	ENSP00000352608:p.Arg3227Trp	Somatic	56	0		WXS	Illumina HiSeq	.	89	42	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835382	0.32421	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.88354	-2.37;-2.37;-2.37	4.8	3.74	0.42951	.	0.000000	0.64402	U	0.000004	D	0.94085	0.8104	M	0.82630	2.6	0.44754	D	0.99775	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.993	D	0.94363	0.7589	10	0.66056	D	0.02	.	12.8361	0.57773	0.2946:0.7054:0.0:0.0	.	3227;3227;3227	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	W	3227;3227;3227;147	ENSP00000352608:R3227W;ENSP00000347667:R3227W;ENSP00000354254:R3227W	ENSP00000347667:R3227W	R	+	1	2	RYR1	43698691	0.981000	0.34729	1.000000	0.80357	0.913000	0.54294	0.220000	0.17660	1.188000	0.43014	0.655000	0.94253	CGG	.		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
TNFRSF14	8764	hgsc.bcm.edu	37	1	2493248	2493248	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:2493248C>T	ENST00000355716.4	+	6	987	c.688C>T	c.(688-690)Cca>Tca	p.P230S		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	230					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AAGAAGAAAGCCAAGGGGTGA	0.577			"""Mis, N, F"""		follicular lymphoma																																p.P230S		.		Rec	yes		1	1p36.32	8764	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""		L	.	.	.	0			c.C688T						.						109.0	106.0	107.0					1																	2493248		2203	4300	6503	SO:0001583	missense	8764	exon6			AGAAAGCCAAGGG	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.688C>T	1.37:g.2493248C>T	ENSP00000347948:p.Pro230Ser	Somatic	73	0		WXS	Illumina HiSeq	.	76	4	NM_003820	B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.671986	0.00104	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.05	1.99	-3.97	0.04094	.	.	.	.	.	T	0.66925	0.2839	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53222	-0.8469	9	0.07175	T	0.84	3.559	7.6505	0.28346	0.159:0.6361:0.0:0.2049	.	230	Q92956	TNR14_HUMAN	S	230	ENSP00000415254:P230S;ENSP00000399292:P230S;ENSP00000399533:P230S;ENSP00000347948:P230S	ENSP00000347948:P230S	P	+	1	0	TNFRSF14	2481170	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-4.965000	0.00165	-2.594000	0.00455	-1.786000	0.00637	CCA	.		0.577	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1		
SLC24A1	9187	hgsc.bcm.edu	37	15	65918176	65918176	+	Silent	SNP	C	C	T	rs370680044		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:65918176C>T	ENST00000261892.6	+	2	2045	c.1758C>T	c.(1756-1758)agC>agT	p.S586S	SLC24A1_ENST00000537259.1_Silent_p.S586S|SLC24A1_ENST00000399033.4_Silent_p.S586S|SLC24A1_ENST00000546330.1_Silent_p.S586S|SLC24A1_ENST00000339868.6_Silent_p.S586S|SLC24A1_ENST00000544319.2_Silent_p.S586S	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	586					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTGGGAGAGCCTGCTGCTGC	0.542																																					p.S586S		.											.,1	.	58	0			c.C1758T						.						155.0	149.0	151.0					15																	65918176		2119	4258	6377	SO:0001819	synonymous_variant	9187	exon2			GGAGAGCCTGCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1758C>T	15.37:g.65918176C>T		Somatic	23	0		WXS	Illumina HiSeq	.	33	3	NM_004727	O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	CCDS45284.1																																																																																			.		0.542	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	89999578	89999578	+	Missense_Mutation	SNP	T	T	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:89999578T>A	ENST00000405460.2	+	35	8348	c.8252T>A	c.(8251-8253)tTt>tAt	p.F2751Y		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2751	Calx-beta 19. {ECO:0000305|PubMed:11606593}.				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)		GAACTCAATTTTGCTAACTTT	0.353																																					p.F2751Y		.											.	.	.	0			c.T8252A						.						70.0	67.0	68.0					5																	89999578		1802	4074	5876	SO:0001583	missense	84059	exon35			TCAATTTTGCTAA	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.8252T>A	5.37:g.89999578T>A	ENSP00000384582:p.Phe2751Tyr	Somatic	74	0		WXS	Illumina HiSeq	.	124	6	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.1|21.1	4.090579|4.090579	0.76756|0.76756	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.24350|.	1.86|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.045148|.	0.85682|.	D|.	0.000000|.	T|T	0.73345|0.73345	0.3575|0.3575	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.73845|0.73845	-0.3854|-0.3854	10|5	0.62326|.	D|.	0.03|.	.|.	15.1466|15.1466	0.72657|0.72657	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2751;2751|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	Y|M	2751|317	ENSP00000384582:F2751Y|.	ENSP00000296619:F2751Y|.	F|L	+|+	2|1	0|2	GPR98|GPR98	90035334|90035334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.154000|7.154000	0.77437|0.77437	2.173000|2.173000	0.68751|0.68751	0.528000|0.528000	0.53228|0.53228	TTT|TTG	.		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
PHIP	55023	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	79679836	79679836	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:79679836G>C	ENST00000275034.4	-	26	3219	c.3052C>G	c.(3052-3054)Ctt>Gtt	p.L1018V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1018	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGGCAGCAAAGGGTAGGTAAT	0.378																																					p.L1018V		.											.	.	.	0			c.C3052G						.						129.0	129.0	129.0					6																	79679836		2203	4300	6503	SO:0001583	missense	55023	exon26			AGCAAAGGGTAGG	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3052C>G	6.37:g.79679836G>C	ENSP00000275034:p.Leu1018Val	Somatic	43	0		WXS	Illumina HiSeq	.	67	47	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658786	0.67586	.	.	ENSG00000146247	ENST00000275034	T	0.40225	1.04	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000016	T	0.33962	0.0881	M	0.62209	1.925	0.80722	D	1	D;D	0.56521	0.976;0.976	P;P	0.46796	0.527;0.527	T	0.16630	-1.0396	9	.	.	.	-9.0869	11.793	0.52080	0.0798:0.0:0.9202:0.0	.	1018;1018	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	1018	ENSP00000275034:L1018V	.	L	-	1	0	PHIP	79736555	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	9.476000	0.97823	2.591000	0.87537	0.557000	0.71058	CTT	.		0.378	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
SPAG16	79582	hgsc.bcm.edu	37	2	214794782	214794782	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:214794782C>T	ENST00000331683.5	+	12	1408	c.1313C>T	c.(1312-1314)gCa>gTa	p.A438V	SPAG16_ENST00000374309.3_Missense_Mutation_p.A344V	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	438					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CACAGCCGCGCAGTGTGGTCC	0.443																																					p.A438V		.											.	.	.	0			c.C1313T						.						111.0	110.0	111.0					2																	214794782		2203	4300	6503	SO:0001583	missense	79582	exon12			GCCGCGCAGTGTG	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1313C>T	2.37:g.214794782C>T	ENSP00000332592:p.Ala438Val	Somatic	59	0		WXS	Illumina HiSeq	.	81	4	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012147	0.54468	.	.	ENSG00000144451	ENST00000331683;ENST00000374309	T;T	0.61158	0.13;0.13	5.48	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.350989	0.24737	N	0.036001	T	0.65502	0.2697	L	0.46819	1.47	0.50313	D	0.999862	D;D;B;D	0.67145	0.989;0.996;0.372;0.989	P;D;B;P	0.63877	0.896;0.919;0.285;0.896	T	0.60255	-0.7299	10	0.16420	T	0.52	.	14.7929	0.69857	0.0:0.8545:0.1455:0.0	.	344;289;378;438	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	V	438;344	ENSP00000332592:A438V;ENSP00000363428:A344V	ENSP00000332592:A438V	A	+	2	0	SPAG16	214503027	0.997000	0.39634	0.852000	0.33557	0.188000	0.23474	3.538000	0.53597	1.253000	0.44018	0.655000	0.94253	GCA	.		0.443	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
PAX3	5077	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	223161877	223161877	+	Missense_Mutation	SNP	G	G	T	rs104893652		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:223161877G>T	ENST00000350526.4	-	2	277	c.141C>A	c.(139-141)aaC>aaA	p.N47K	PAX3_ENST00000392070.2_Missense_Mutation_p.N47K|PAX3_ENST00000344493.4_Missense_Mutation_p.N47K|PAX3_ENST00000409828.3_Missense_Mutation_p.N47K|PAX3_ENST00000409551.3_Missense_Mutation_p.N47K|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392069.2_Missense_Mutation_p.N47K|PAX3_ENST00000258387.5_Missense_Mutation_p.N47K|PAX3_ENST00000336840.6_Missense_Mutation_p.N47K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	47	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		N -> H (in WS3). {ECO:0000269|PubMed:8447316}.|N -> K (in CDHS). {ECO:0000269|PubMed:8664898}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGCCTGCCGTTGATAAAAA	0.632			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.N47K		.		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	.	0			c.C141A	GRCh37	CM961088	PAX3	M	rs104893652	.						14.0	15.0	15.0					2																	223161877		2193	4293	6486	SO:0001583	missense	5077	exon2			CCTGCCGTTGATA		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.141C>A	2.37:g.223161877G>T	ENSP00000343052:p.Asn47Lys	Somatic	23	0		WXS	Illumina HiSeq	.	43	25	NM_181457	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995673	0.74703	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17;-6.17;-6.17;-6.17;-6.17	5.24	4.24	0.50183	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.97315	3.98	0.58432	D	0.999992	D;D;D;P;D;D;D	0.89917	0.999;0.999;0.985;0.945;0.972;1.0;0.972	D;D;P;P;P;D;P	0.76575	0.988;0.977;0.658;0.668;0.539;0.954;0.539	D	0.97971	1.0343	10	0.87932	D	0	.	8.6227	0.33870	0.2538:0.0:0.7462:0.0	.	47;47;47;47;47;47;47	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	K	47	ENSP00000375921:N47K;ENSP00000342092:N47K;ENSP00000343052:N47K;ENSP00000375922:N47K;ENSP00000338767:N47K;ENSP00000386750:N47K;ENSP00000386817:N47K;ENSP00000258387:N47K	ENSP00000258387:N47K	N	-	3	2	PAX3	222870121	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.401000	0.34589	2.426000	0.82243	0.655000	0.94253	AAC	.		0.632	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
TTC14	151613	hgsc.bcm.edu	37	3	180320910	180320910	+	Splice_Site	SNP	A	A	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:180320910A>T	ENST00000296015.4	+	3	418		c.e3-1		TTC14_ENST00000382584.4_Splice_Site|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000412756.2_Splice_Site	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14								RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTTTTTTTAGATCATTATG	0.358																																					.		.											.	.	.	0			c.287-2A>T						.						107.0	110.0	109.0					3																	180320910		2203	4300	6503	SO:0001630	splice_region_variant	151613	exon3			TTTTTTAGATCAT	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.287-1A>T	3.37:g.180320910A>T		Somatic	40	0		WXS	Illumina HiSeq	.	75	6	NM_001042601	G5E9X0|Q6UWJ7|Q8TF22	Splice_Site	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	A	32	5.147489	0.94603	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC14	181803604	1.000000	0.71417	0.966000	0.40874	0.722000	0.41435	8.714000	0.91412	2.210000	0.71456	0.533000	0.62120	.	.		0.358	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	Intron
CLTCL1	8218	hgsc.bcm.edu	37	22	19213069	19213069	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr22:19213069G>T	ENST00000263200.10	-	13	2107	c.2035C>A	c.(2035-2037)Ctt>Att	p.L679I	CLTCL1_ENST00000427926.1_Missense_Mutation_p.L679I|CLTCL1_ENST00000353891.5_Missense_Mutation_p.L679I	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	679	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CACAGCTGAAGGTTCTGTCTG	0.517			T	?	ALCL																																p.L679I		.		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	.	0			c.C2035A						.						44.0	47.0	46.0					22																	19213069		2079	4228	6307	SO:0001583	missense	8218	exon13			GCTGAAGGTTCTG		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2035C>A	22.37:g.19213069G>T	ENSP00000445677:p.Leu679Ile	Somatic	17	0		WXS	Illumina HiSeq	.	26	4	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213851	0.79352	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.24538	1.85;1.85;1.85	4.0	4.0	0.46444	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.54498	0.1862	M	0.83118	2.625	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.91635	0.999;0.999	T	0.62774	-0.6783	10	0.56958	D	0.05	-13.3561	16.6486	0.85183	0.0:0.0:1.0:0.0	.	679;679	P53675-2;P53675	.;CLH2_HUMAN	I	679	ENSP00000439662:L679I;ENSP00000445677:L679I;ENSP00000441158:L679I	ENSP00000445677:L679I	L	-	1	0	CLTCL1	17593069	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.969000	0.56816	2.220000	0.72140	0.655000	0.94253	CTT	.		0.517	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
CACNA1G	8913	hgsc.bcm.edu	37	17	48639364	48639364	+	Intron	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:48639364A>G	ENST00000359106.5	+	1	242				CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G-AS1_ENST00000505793.1_RNA|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000416767.4_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|RP11-94C24.11_ENST00000513378.1_RNA|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000515411.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGCAGCTGGACGCCCTCCAG	0.657																																					.		.											.	.	.	0			.						.																																			SO:0001627	intron_variant	253962	.			AGCTGGACGCCCT	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.242+302A>G	17.37:g.48639364A>G		Somatic	66	0		WXS	Illumina HiSeq	.	108	3	.	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	RNA	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																			.		0.657	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
C1orf198	84886	hgsc.bcm.edu	37	1	230979495	230979495	+	Missense_Mutation	SNP	C	C	T	rs375540477		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:230979495C>T	ENST00000366663.5	-	3	672	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	C1orf198_ENST00000470540.1_Missense_Mutation_p.A140T|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.A48T	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	178						cytoplasm (GO:0005737)		p.A178T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCCCAGGGCGTCCAGGCTG	0.667																																					p.A178T		.											C1orf198,NS,carcinoma,0,1	C1orf198	0	1	Substitution - Missense(1)	breast(1)	c.G532A						.						77.0	85.0	82.0					1																	230979495		2203	4300	6503	SO:0001583	missense	84886	exon3			CCAGGGCGTCCAG	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.532G>A	1.37:g.230979495C>T	ENSP00000355623:p.Ala178Thr	Somatic	14	0		WXS	Illumina HiSeq	.	48	3	NM_032800	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947459	0.53186	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.34472	1.41;1.4;1.36	4.61	4.61	0.57282	.	0.357263	0.24001	N	0.042464	T	0.36276	0.0961	L	0.57536	1.79	0.09310	N	1	P	0.46327	0.876	B	0.37304	0.246	T	0.43163	-0.9408	10	0.66056	D	0.02	-7.3394	17.4393	0.87561	0.0:1.0:0.0:0.0	.	178	Q9H425	CA198_HUMAN	T	178;140;48;135	ENSP00000355623:A178T;ENSP00000428172:A140T;ENSP00000430967:A48T	ENSP00000355623:A178T	A	-	1	0	C1orf198	229046118	0.422000	0.25473	0.040000	0.18447	0.284000	0.27059	4.021000	0.57196	2.100000	0.63781	0.462000	0.41574	GCC	.		0.667	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800	
IREB2	3658	hgsc.bcm.edu	37	15	78765723	78765723	+	Splice_Site	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:78765723G>T	ENST00000258886.8	+	8	1172	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	IREB2_ENST00000560440.1_Missense_Mutation_p.K341N	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	341					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTATTACAAAGGTAAGTTAAA	0.373																																					p.K341N	NSCLC(200;764 2208 35157 49871 50830)	.											.	.	.	0			c.G1023T						.						169.0	158.0	162.0					15																	78765723		2196	4293	6489	SO:0001630	splice_region_variant	3658	exon8			TACAAAGGTAAGT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1023+1G>T	15.37:g.78765723G>T		Somatic	60	0		WXS	Illumina HiSeq	.	84	3	NM_004136	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094122	0.56075	.	.	ENSG00000136381	ENST00000258886	T	0.18016	2.24	5.93	5.01	0.66863	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	L	0.47078	1.49	0.80722	D	1	D;P	0.58970	0.984;0.901	P;P	0.56042	0.79;0.634	T	0.00242	-1.1885	10	0.52906	T	0.07	.	14.5347	0.67953	0.0697:0.0:0.9303:0.0	.	341;341	P48200;Q8WVK6	IREB2_HUMAN;.	N	341	ENSP00000258886:K341N	ENSP00000258886:K341N	K	+	3	2	IREB2	76552778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.522000	0.73783	2.818000	0.97014	0.591000	0.81541	AAG	.		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136	Missense_Mutation
TICAM1	148022	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	4816516	4816516	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr19:4816516G>A	ENST00000248244.5	-	2	2103	c.1874C>T	c.(1873-1875)cCg>cTg	p.P625L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	625	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CGGGCACCCCGGCCAAGTGGG	0.711																																					p.P625L		.											.	.	.	0			c.C1874T						.						13.0	14.0	14.0					19																	4816516		2194	4288	6482	SO:0001583	missense	148022	exon2			CACCCCGGCCAAG	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1874C>T	19.37:g.4816516G>A	ENSP00000248244:p.Pro625Leu	Somatic	23	0		WXS	Illumina HiSeq	.	48	24	NM_182919	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	5.991	0.366683	0.11352	.	.	ENSG00000127666	ENST00000248244	T	0.44482	0.92	4.37	-3.71	0.04424	.	1.277130	0.06096	N	0.664505	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.11817	-1.0572	10	0.39692	T	0.17	-3.8037	2.3936	0.04384	0.2513:0.2179:0.4196:0.1113	.	625	Q8IUC6	TCAM1_HUMAN	L	625	ENSP00000248244:P625L	ENSP00000248244:P625L	P	-	2	0	TICAM1	4767516	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.538000	0.06120	-0.844000	0.04184	-2.281000	0.00270	CCG	.		0.711	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261	
ZFP1	162239	hgsc.bcm.edu	37	16	75203971	75203971	+	Missense_Mutation	SNP	G	G	T	rs375737032		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:75203971G>T	ENST00000393430.2	+	4	1087	c.963G>T	c.(961-963)gaG>gaT	p.E321D	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.E288D|ZFP1_ENST00000570010.1_Missense_Mutation_p.E321D|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACACGGGGGAGAAACGCTATG	0.408																																					p.E321D	NSCLC(187;1429 2122 10143 20357 42217)	.											ZFP1,NS,carcinoma,0,1	ZFP1	0	0			c.G963T						.						77.0	76.0	76.0					16																	75203971		2198	4300	6498	SO:0001583	missense	162239	exon4			GGGGGAGAAACGC	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.963G>T	16.37:g.75203971G>T	ENSP00000377080:p.Glu321Asp	Somatic	41	0		WXS	Illumina HiSeq	.	84	4	NM_153688	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885738	0.72410	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.26810	1.71	4.42	4.42	0.53409	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000163	T	0.35653	0.0939	L	0.39085	1.19	0.80722	D	1	D	0.65815	0.995	D	0.69654	0.965	T	0.04565	-1.0942	10	0.72032	D	0.01	-30.2945	8.5435	0.33406	0.101:0.0:0.899:0.0	.	321	Q6P2D0	ZFP1_HUMAN	D	321	ENSP00000377080:E321D	ENSP00000333192:E321D	E	+	3	2	ZFP1	73761472	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.161000	0.31773	2.744000	0.94065	0.655000	0.94253	GAG	.		0.408	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688	
NID1	4811	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	236205367	236205367	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:236205367G>A	ENST00000264187.6	-	4	1060	c.978C>T	c.(976-978)taC>taT	p.Y326Y	NID1_ENST00000366595.3_Silent_p.Y326Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	326					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGGGCACACTGTATGTGTCAG	0.602																																					p.Y326Y		.											.	.	.	0			c.C978T						.						101.0	92.0	95.0					1																	236205367		2203	4300	6503	SO:0001819	synonymous_variant	4811	exon4			CACACTGTATGTG	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.978C>T	1.37:g.236205367G>A		Somatic	10	0		WXS	Illumina HiSeq	.	24	10	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																			.		0.602	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
ECI2	10455	hgsc.bcm.edu;broad.mit.edu	37	6	4133832	4133832	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:4133832T>C	ENST00000380118.3	-	2	200	c.164A>G	c.(163-165)aAg>aGg	p.K55R	ECI2_ENST00000465828.1_Missense_Mutation_p.K25R|ECI2_ENST00000413766.2_5'UTR|RP3-400B16.4_ENST00000527831.1_RNA|RP3-400B16.1_ENST00000427049.2_lincRNA|ECI2_ENST00000361538.2_Missense_Mutation_p.K25R|ECI2_ENST00000380125.2_Missense_Mutation_p.K25R			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	55	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCCTGGATCCTTTTTCAAGAG	0.398																																					p.K55R		.											ECI2_ENST00000380118,NS,malignant_melanoma,0,2	ECI2_ENST00000380118	0	0			c.A164G						.						217.0	201.0	206.0					6																	4133832		2203	4300	6503	SO:0001583	missense	10455	exon2			GGATCCTTTTTCA	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.164A>G	6.37:g.4133832T>C	ENSP00000369461:p.Lys55Arg	Somatic	45	1		WXS	Illumina HiSeq	.	89	4	NM_206836	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191753	0.78902	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.98	5.98	0.97165	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	21.516500	0.00166	N	0.000000	T	0.31796	0.0808	M	0.78223	2.4	0.80722	D	1	B	0.20988	0.05	B	0.35899	0.213	T	0.34850	-0.9812	10	0.54805	T	0.06	.	14.4143	0.67139	0.0:0.0:0.0:1.0	.	55	O75521	ECI2_HUMAN	R	55;25;25;25;102	ENSP00000369461:K55R;ENSP00000369468:K25R;ENSP00000354737:K25R;ENSP00000420309:K25R;ENSP00000417459:K102R	ENSP00000354737:K25R	K	-	2	0	ECI2	4078831	0.659000	0.27411	0.999000	0.59377	0.997000	0.91878	3.003000	0.49505	2.289000	0.77006	0.533000	0.62120	AAG	.		0.398	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	
YTHDC1	91746	hgsc.bcm.edu	37	4	69179995	69179995	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:69179995G>T	ENST00000344157.4	-	17	2341	c.2006C>A	c.(2005-2007)gCt>gAt	p.A669D	YTHDC1_ENST00000355665.3_Missense_Mutation_p.A651D|YTHDC1_ENST00000579690.1_Missense_Mutation_p.A677D	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	669	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTGACAACAGCTTGTGTGCG	0.468																																					p.A669D		.											YTHDC1,caecum,carcinoma,0,1	YTHDC1	0	0			c.C2006A						.						79.0	71.0	74.0					4																	69179995		2203	4300	6503	SO:0001583	missense	91746	exon17			ACAACAGCTTGTG	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2006C>A	4.37:g.69179995G>T	ENSP00000339245:p.Ala669Asp	Somatic	13	0		WXS	Illumina HiSeq	.	30	2	NM_001031732	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919752	0.73098	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.32753	1.48;1.44	5.93	5.93	0.95920	.	0.048174	0.85682	D	0.000000	T	0.40645	0.1125	L	0.29908	0.895	0.80722	D	1	D;D	0.57257	0.979;0.964	P;P	0.54270	0.747;0.563	T	0.17137	-1.0379	10	0.87932	D	0	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	651;669	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	D	669;651	ENSP00000339245:A669D;ENSP00000347888:A651D	ENSP00000339245:A669D	A	-	2	0	YTHDC1	68862590	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.626000	0.90969	2.814000	0.96858	0.591000	0.81541	GCT	.		0.468	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
TRIM36	55521	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	114506912	114506912	+	Intron	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:114506912T>C	ENST00000282369.3	-	2	185				TRIM36_ENST00000515104.1_5'Flank|TRIM36_ENST00000379618.2_Missense_Mutation_p.D24G|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_5'Flank	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36						acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCGTCTCCAATCCGGCATCTA	0.463																																					p.D24G		.											.	.	.	0			c.A71G						.						98.0	107.0	104.0					5																	114506912		2202	4300	6502	SO:0001627	intron_variant	55521	exon2			CTCCAATCCGGCA	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.64-7463A>G	5.37:g.114506912T>C		Somatic	30	0		WXS	Illumina HiSeq	.	38	4	NM_001017397	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	T	1.502	-0.551894	0.03996	.	.	ENSG00000152503	ENST00000379618	.	.	.	2.28	-4.56	0.03431	.	.	.	.	.	T	0.25975	0.0633	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	7	0.87932	D	0	.	4.4315	0.11529	0.0:0.2252:0.3653:0.4094	.	24	Q0P5Z9	.	G	24	.	ENSP00000368938:D24G	D	-	2	0	TRIM36	114534811	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.913000	0.04042	-1.206000	0.02641	-1.317000	0.01298	GAT	.		0.463	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700	
MPDZ	8777	hgsc.bcm.edu	37	9	13176150	13176150	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:13176150G>T	ENST00000319217.7	-	20	3163	c.2916C>A	c.(2914-2916)ccC>ccA	p.P972P	MPDZ_ENST00000381015.4_Silent_p.P972P|MPDZ_ENST00000546205.1_Silent_p.P972P|MPDZ_ENST00000536827.1_Silent_p.P972P|MPDZ_ENST00000381022.2_Silent_p.P972P|MPDZ_ENST00000541718.1_Silent_p.P972P|MPDZ_ENST00000447879.1_Silent_p.P972P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	972					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.P972P(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGCTGAATCGGGTAGCACAG	0.348																																					p.P972P		.											MPDZ_ENST00000541718,NS,carcinoma,0,2	MPDZ_ENST00000541718	0	2	Substitution - coding silent(2)	lung(2)	c.C2916A						.						83.0	68.0	73.0					9																	13176150		1839	4088	5927	SO:0001819	synonymous_variant	8777	exon20			TGAATCGGGTAGC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2916C>A	9.37:g.13176150G>T		Somatic	34	0		WXS	Illumina HiSeq	.	59	3	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																				.		0.348	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
ZDHHC17	23390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	77208948	77208948	+	Missense_Mutation	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:77208948A>G	ENST00000426126.2	+	6	1215	c.566A>G	c.(565-567)aAt>aGt	p.N189S	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.N189S|ZDHHC17_ENST00000359019.4_Missense_Mutation_p.N139S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	189					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATGGATCAGAATGGAATGACG	0.303																																					p.N189S		.											.	.	.	0			c.A566G						.						51.0	49.0	49.0					12																	77208948		1817	4062	5879	SO:0001583	missense	23390	exon6			ATCAGAATGGAAT	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.566A>G	12.37:g.77208948A>G	ENSP00000403397:p.Asn189Ser	Somatic	44	0		WXS	Illumina HiSeq	.	109	18	NM_015336	B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244488	0.79912	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000550876	T;T;T;T	0.64618	-0.11;-0.11;0.63;0.63	5.49	5.49	0.81192	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	N	0.16862	0.45	0.80722	D	1	D	0.63880	0.993	D	0.65987	0.94	T	0.66372	-0.5940	10	0.38643	T	0.18	-16.7176	15.5869	0.76491	1.0:0.0:0.0:0.0	.	189	Q8IUH5	ZDH17_HUMAN	S	189;189;139;26	ENSP00000403397:N189S;ENSP00000334868:N189S;ENSP00000351913:N139S;ENSP00000449734:N26S	ENSP00000334868:N189S	N	+	2	0	ZDHHC17	75733079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.065000	0.93941	2.084000	0.62774	0.455000	0.32223	AAT	.		0.303	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336	
HID1	283987	hgsc.bcm.edu;bcgsc.ca	37	17	72950350	72950350	+	Missense_Mutation	SNP	G	G	A	rs546418720		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:72950350G>A	ENST00000425042.2	-	14	1824	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	583					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											TCAGGTGTCCGCCGGCGCCGC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		15013	0.0		0.0	False		,,,				2504	0.001				p.R583W		.											.	.	.	0			c.C1747T						.						32.0	31.0	31.0					17																	72950350		2198	4291	6489	SO:0001583	missense	283987	exon14			GTGTCCGCCGGCG		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1747C>T	17.37:g.72950350G>A	ENSP00000413520:p.Arg583Trp	Somatic	36	0		WXS	Illumina HiSeq	.	57	4	NM_030630	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276694	0.40294	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.47	0.947	0.19555	.	0.124595	0.51477	D	0.000100	T	0.44052	0.1275	L	0.44542	1.39	0.28388	N	0.919207	D	0.60575	0.988	P	0.51453	0.67	T	0.49744	-0.8907	9	0.87932	D	0	-17.8174	13.8492	0.63485	0.0:0.0:0.3088:0.6912	.	583	Q8IV36	CQ028_HUMAN	W	355;583;355	.	ENSP00000317795:R355W	R	-	1	2	C17orf28	70461945	0.396000	0.25262	0.038000	0.18304	0.129000	0.20672	2.444000	0.44890	0.265000	0.21872	-0.314000	0.08810	CGG	.		0.697	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	
NYAP2	57624	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	226447614	226447614	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:226447614C>T	ENST00000272907.6	+	4	1894	c.1481C>T	c.(1480-1482)aCc>aTc	p.T494I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	494					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCGGTGAACACCTACGGGGCA	0.682																																					p.T494I		.											.	.	.	0			c.C1481T						.						25.0	29.0	28.0					2																	226447614		1968	4142	6110	SO:0001583	missense	57624	exon4			TGAACACCTACGG	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1481C>T	2.37:g.226447614C>T	ENSP00000272907:p.Thr494Ile	Somatic	25	0		WXS	Illumina HiSeq	.	45	17	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129952	0.37630	.	.	ENSG00000144460	ENST00000272907	T	0.32272	1.46	5.63	5.63	0.86233	.	0.057293	0.64402	D	0.000002	T	0.27765	0.0683	N	0.25647	0.755	0.80722	D	1	B;P	0.38677	0.184;0.642	B;B	0.37480	0.131;0.251	T	0.05599	-1.0875	10	0.62326	D	0.03	-16.0376	19.7096	0.96089	0.0:1.0:0.0:0.0	.	8;494	Q9P242-3;Q9P242	.;K1486_HUMAN	I	494	ENSP00000272907:T494I	ENSP00000272907:T494I	T	+	2	0	KIAA1486	226155858	1.000000	0.71417	0.771000	0.31576	0.414000	0.31173	5.633000	0.67825	2.652000	0.90054	0.655000	0.94253	ACC	.		0.682	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
GCM1	8521	hgsc.bcm.edu	37	6	52993290	52993290	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:52993290G>T	ENST00000259803.7	-	6	1236	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	342					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGCTCCAATGGAAGCTGCTG	0.468																																					p.P342Q		.											GCM1,rectum,carcinoma,0,1	GCM1	0	0			c.C1025A						.						68.0	74.0	72.0					6																	52993290		2203	4300	6503	SO:0001583	missense	8521	exon6			TCCAATGGAAGCT	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1025C>A	6.37:g.52993290G>T	ENSP00000259803:p.Pro342Gln	Somatic	24	0		WXS	Illumina HiSeq	.	56	3	NM_003643	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512004	0.64522	.	.	ENSG00000137270	ENST00000259803	T	0.77098	-1.07	5.73	4.86	0.63082	.	0.168763	0.41712	D	0.000834	T	0.73674	0.3617	L	0.36672	1.1	0.30988	N	0.721787	D	0.76494	0.999	D	0.70716	0.97	T	0.74200	-0.3742	10	0.66056	D	0.02	0.0486	10.2101	0.43136	0.1563:0.0:0.8437:0.0	.	342	Q9NP62	GCM1_HUMAN	Q	342	ENSP00000259803:P342Q	ENSP00000259803:P342Q	P	-	2	0	GCM1	53101249	0.869000	0.29996	0.962000	0.40283	0.885000	0.51271	3.822000	0.55708	1.444000	0.47605	0.591000	0.81541	CCA	.		0.468	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		
ACTB	60	hgsc.bcm.edu	37	7	5567663	5567663	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:5567663G>A	ENST00000331789.5	-	5	1147	c.956C>T	c.(955-957)gCc>gTc	p.A319V	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	319					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGTGCCAGGGCAGTGATCTC	0.602																																					p.A319V		.											.	.	.	0			c.C956T						.						140.0	133.0	136.0					7																	5567663		2203	4300	6503	SO:0001583	missense	60	exon5			GCCAGGGCAGTGA	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.956C>T	7.37:g.5567663G>A	ENSP00000349960:p.Ala319Val	Somatic	37	0		WXS	Illumina HiSeq	.	53	4	NM_001101	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189280	0.21954	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.94758	-3.51	5.55	3.74	0.42951	.	0.000000	0.64402	D	0.000019	D	0.94565	0.8249	M	0.90870	3.155	0.41226	D	0.986547	B	0.02656	0.0	B	0.09377	0.004	D	0.91774	0.5430	10	0.87932	D	0	.	9.5592	0.39357	0.0747:0.0:0.7828:0.1425	.	319	P60709	ACTB_HUMAN	V	319;295;291;238	ENSP00000349960:A319V	ENSP00000440549:A238V	A	-	2	0	ACTB	5534189	1.000000	0.71417	0.798000	0.32154	0.519000	0.34347	7.667000	0.83888	0.708000	0.31955	-0.141000	0.14075	GCC	.		0.602	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101	
SLC22A4	6583	hgsc.bcm.edu	37	5	131630429	131630429	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:131630429G>T	ENST00000200652.3	+	1	294	c.120G>T	c.(118-120)gtG>gtT	p.V40V	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	40					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TGTCAGTCGTGTTCCTGGCGG	0.662																																					p.V40V		.											.	.	.	0			c.G120T						.						52.0	59.0	57.0					5																	131630429		2203	4300	6503	SO:0001819	synonymous_variant	6583	exon1			AGTCGTGTTCCTG	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.120G>T	5.37:g.131630429G>T		Somatic	19	0		WXS	Illumina HiSeq	.	47	4	NM_003059	O14546	Silent	SNP	ENST00000200652.3	37	CCDS4153.1																																																																																			.		0.662	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059	
PCDHA4	56144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	140188641	140188641	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr5:140188641C>T	ENST00000530339.1	+	1	1869	c.1869C>T	c.(1867-1869)cgC>cgT	p.R623R	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.R623R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R623R(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGTTCCGCGTGGGGCTGT	0.672																																					p.R623R		.											PCDHA4_ENST00000530339,NS,carcinoma,0,4	PCDHA4_ENST00000530339	0	2	Substitution - coding silent(2)	prostate(2)	c.C1869T						.						90.0	89.0	89.0					5																	140188641		2203	4299	6502	SO:0001819	synonymous_variant	56144	exon1			GTTCCGCGTGGGG	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1869C>T	5.37:g.140188641C>T		Somatic	44	0		WXS	Illumina HiSeq	.	80	8	NM_031500	O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	CCDS54916.1																																																																																			.		0.672	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.H1047L	Colon(199;1504 1750 3362 26421 31210 32040)	.		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA_ENST00000263967,NS,adenocarcinoma,0,2044	PIK3CA_ENST00000263967	0	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	c.A3140T						.						99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290	exon21			ATGCACATCATGG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu	Somatic	12	0		WXS	Illumina HiSeq	.	30	12	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	.		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
YARS	8565	hgsc.bcm.edu	37	1	33246690	33246690	+	Silent	SNP	G	G	T	rs376054085		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:33246690G>T	ENST00000373477.4	-	10	2007	c.1099C>A	c.(1099-1101)Cgg>Agg	p.R367R	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	367	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.R367W(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ATATCCAGCCGGGATGGGATG	0.507																																					p.R367R		.											YARS,caecum,carcinoma,0,1	YARS	0	1	Substitution - Missense(1)	large_intestine(1)	c.C1099A						.						135.0	123.0	127.0					1																	33246690		2203	4300	6503	SO:0001819	synonymous_variant	8565	exon10			CCAGCCGGGATGG	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1099C>A	1.37:g.33246690G>T		Somatic	34	0		WXS	Illumina HiSeq	.	50	2	NM_003680	B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	CCDS368.1																																																																																			.		0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680	
AMBRA1	55626	hgsc.bcm.edu	37	11	46564499	46564499	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:46564499C>T	ENST00000458649.2	-	7	1486	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	AMBRA1_ENST00000533727.1_Silent_p.S266S|AMBRA1_ENST00000426438.1_Silent_p.S356S|AMBRA1_ENST00000314845.3_Silent_p.S266S|AMBRA1_ENST00000534300.1_Silent_p.S356S|AMBRA1_ENST00000528950.1_Silent_p.S356S|AMBRA1_ENST00000298834.3_Silent_p.S356S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	356					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)		p.S356S(1)|p.S266S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTGCGTTGACGAGGCCTGCT	0.622																																					p.S266S		.											AMBRA1_ENST00000458649,colon,carcinoma,0,2	AMBRA1_ENST00000458649	0	2	Substitution - coding silent(2)	large_intestine(2)	c.G798A						.						68.0	78.0	74.0					11																	46564499		2199	4299	6498	SO:0001819	synonymous_variant	55626	exon8			CGTTGACGAGGCC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1068G>A	11.37:g.46564499C>T		Somatic	24	0		WXS	Illumina HiSeq	.	32	2	NM_001267783	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37																																																																																				.		0.622	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
ATP13A3	79572	hgsc.bcm.edu	37	3	194167665	194167665	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:194167665G>A	ENST00000439040.1	-	14	2279	c.1488C>T	c.(1486-1488)tgC>tgT	p.C496C	ATP13A3_ENST00000256031.4_Silent_p.C496C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	496						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCTTGTCAAAGCAAACAAGAT	0.323																																					p.C496C		.											.	.	.	0			c.C1488T						.						109.0	102.0	104.0					3																	194167665		1849	4095	5944	SO:0001819	synonymous_variant	79572	exon13			GTCAAAGCAAACA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1488C>T	3.37:g.194167665G>A		Somatic	22	0		WXS	Illumina HiSeq	.	86	4	NM_024524	Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	CCDS43187.1																																																																																			.		0.323	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
STAB2	55576	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	104126866	104126866	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:104126866C>T	ENST00000388887.2	+	51	5570	c.5366C>T	c.(5365-5367)gCc>gTc	p.A1789V		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCCCTCCATGCCCTACCTGCT	0.498																																					p.A1789V		.											.	.	.	0			c.C5366T						.						233.0	189.0	204.0					12																	104126866		2203	4300	6503	SO:0001583	missense	55576	exon51			TCCATGCCCTACC	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5366C>T	12.37:g.104126866C>T	ENSP00000373539:p.Ala1789Val	Somatic	14	0		WXS	Illumina HiSeq	.	15	8	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450822	0.43531	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.91124	-2.79	5.11	3.13	0.36017	FAS1 domain (5);	0.649555	0.15589	N	0.254492	D	0.92489	0.7615	M	0.87381	2.88	0.28529	N	0.912686	P	0.47191	0.891	P	0.49012	0.598	D	0.86750	0.1960	10	0.41790	T	0.15	.	9.2994	0.37835	0.1513:0.5546:0.2941:0.0	.	1789	Q8WWQ8	STAB2_HUMAN	V	1789;476	ENSP00000373539:A1789V	ENSP00000258495:A476V	A	+	2	0	STAB2	102650996	0.155000	0.22806	0.946000	0.38457	0.130000	0.20726	1.151000	0.31651	1.135000	0.42183	-0.176000	0.13171	GCC	.		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
VAPB	9217	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	57016107	57016107	+	Missense_Mutation	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr20:57016107C>A	ENST00000475243.1	+	5	879	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	181					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			AGGTGAAGTTCAGAGGCTACG	0.428																																					p.Q181K		.											.	.	.	0			c.C541A						.						93.0	86.0	88.0					20																	57016107		2203	4300	6503	SO:0001583	missense	9217	exon5			GAAGTTCAGAGGC	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.541C>A	20.37:g.57016107C>A	ENSP00000417175:p.Gln181Lys	Somatic	38	0		WXS	Illumina HiSeq	.	56	27	NM_004738	A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	C	8.758	0.923007	0.18056	.	.	ENSG00000124164	ENST00000475243	T	0.30714	1.52	5.38	5.38	0.77491	.	0.057315	0.64402	D	0.000001	T	0.50548	0.1622	M	0.80028	2.48	0.80722	D	1	D;P	0.71674	0.998;0.799	D;B	0.66084	0.941;0.318	T	0.52403	-0.8580	10	0.06757	T	0.87	-23.0331	14.0422	0.64684	0.1508:0.8492:0.0:0.0	.	58;181	B4DNS4;O95292	.;VAPB_HUMAN	K	181	ENSP00000417175:Q181K	ENSP00000417175:Q181K	Q	+	1	0	VAPB	56449513	1.000000	0.71417	0.954000	0.39281	0.997000	0.91878	4.535000	0.60629	2.528000	0.85240	0.650000	0.86243	CAG	.		0.428	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2		
HAL	3034	hgsc.bcm.edu	37	12	96379885	96379885	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:96379885G>A	ENST00000261208.3	-	13	1473	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	HAL_ENST00000541929.1_Missense_Mutation_p.R161W|HAL_ENST00000538703.1_Missense_Mutation_p.R369W	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	369					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGAGTGACCGAAACCGAAAA	0.403																																					p.R369W	NSCLC(169;943 2815 23563 30031)	.											HAL,NS,malignant_melanoma,0,2	HAL	0	0			c.C1105T						.						125.0	107.0	113.0					12																	96379885		2203	4300	6503	SO:0001583	missense	3034	exon13			GTGACCGAAACCG		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1105C>T	12.37:g.96379885G>A	ENSP00000261208:p.Arg369Trp	Somatic	35	0		WXS	Illumina HiSeq	.	58	4	NM_001258334	B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754816	0.89843	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.79749	-1.3;-1.3;-1.3	5.63	5.63	0.86233	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91161	0.7216	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92479	0.5991	10	0.87932	D	0	-11.9001	14.4176	0.67160	0.0:0.0:0.8169:0.1831	.	369;369	F5GXF2;P42357	.;HUTH_HUMAN	W	369;161;369	ENSP00000261208:R369W;ENSP00000446364:R161W;ENSP00000440861:R369W	ENSP00000261208:R369W	R	-	1	2	HAL	94904016	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.856000	0.62932	2.669000	0.90835	0.655000	0.94253	CGG	.		0.403	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1		
OR13F1	138805	hgsc.bcm.edu	37	9	107267255	107267255	+	Missense_Mutation	SNP	T	T	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:107267255T>C	ENST00000334726.2	+	1	801	c.712T>C	c.(712-714)Ttt>Ctt	p.F238L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTAAAGCCTTTTCAACGTG	0.478																																					p.F238L		.											.	.	.	0			c.T712C						.						187.0	170.0	176.0					9																	107267255		2203	4300	6503	SO:0001583	missense	138805	exon1			AAAGCCTTTTCAA		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.712T>C	9.37:g.107267255T>C	ENSP00000334452:p.Phe238Leu	Somatic	32	0		WXS	Illumina HiSeq	.	52	4	NM_001004485	Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099683	0.56183	.	.	ENSG00000186881	ENST00000334726	T	0.00269	8.37	4.3	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.00412	0.0013	M	0.73598	2.24	0.32955	D	0.520255	D	0.61697	0.99	P	0.62491	0.903	T	0.56836	-0.7913	10	0.72032	D	0.01	.	8.7372	0.34537	0.1695:0.0:0.0:0.8304	.	238	Q8NGS4	O13F1_HUMAN	L	238	ENSP00000334452:F238L	ENSP00000334452:F238L	F	+	1	0	OR13F1	106307076	0.939000	0.31865	1.000000	0.80357	0.727000	0.41649	0.771000	0.26633	0.942000	0.37525	0.533000	0.62120	TTT	.		0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		
OR2G2	81470	hgsc.bcm.edu	37	1	247752208	247752208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:247752208G>T	ENST00000320065.1	+	1	547	c.547G>T	c.(547-549)Gag>Tag	p.E183*	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCATCTGCGAGGTCCCTGT	0.532																																					p.E183X		.											OR2G2,NS,carcinoma,0,1	OR2G2	0	0			c.G547T						.						181.0	175.0	177.0					1																	247752208		2203	4300	6503	SO:0001587	stop_gained	81470	exon1			ATCTGCGAGGTCC	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.547G>T	1.37:g.247752208G>T	ENSP00000326349:p.Glu183*	Somatic	24	0		WXS	Illumina HiSeq	.	42	2	NM_001001915	Q5JQT2|Q6IEZ0	Nonsense_Mutation	SNP	ENST00000320065.1	37	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083147	0.94050	.	.	ENSG00000177489	ENST00000320065	.	.	.	4.29	4.29	0.51040	.	0.000000	0.37348	U	0.002125	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3294	0.66545	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000326349:E183X	E	+	1	0	OR2G2	245818831	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.464000	0.53057	2.206000	0.71126	0.591000	0.81541	GAG	.		0.532	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1		
FAM65A	79567	hgsc.bcm.edu	37	16	67572725	67572725	+	Silent	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr16:67572725G>T	ENST00000379312.3	+	3	388	c.267G>T	c.(265-267)ctG>ctT	p.L89L	FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000042381.4_Silent_p.L85L|FAM65A_ENST00000422602.2_Silent_p.L105L|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.L99L|FAM65A_ENST00000540839.3_Silent_p.L105L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	89						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCGGGGCCTGACGTGAGCAG	0.672																																					p.L105L		.											.	.	.	0			c.G315T						.						34.0	41.0	39.0					16																	67572725		2179	4280	6459	SO:0001819	synonymous_variant	79567	exon3			GGGCCTGACGTGA	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.267G>T	16.37:g.67572725G>T		Somatic	57	0		WXS	Illumina HiSeq	.	97	4	NM_001193523	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	8.475	0.858425	0.17178	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.43	0.681	0.17986	.	.	.	.	.	T	0.52370	0.1730	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40979	-0.9534	4	.	.	.	-8.3402	6.4709	0.22007	0.3271:0.1352:0.5377:0.0	.	.	.	.	Y	80	.	.	D	+	1	0	FAM65A	66130226	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	0.645000	0.24782	0.265000	0.21872	0.484000	0.47621	GAC	.		0.672	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
POU4F2	5458	hgsc.bcm.edu	37	4	147560457	147560457	+	Silent	SNP	T	T	C	rs530695040|rs5862765		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:147560457T>C	ENST00000281321.3	+	1	413	c.165T>C	c.(163-165)ggT>ggC	p.G55G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcg	0.761																																					p.G55G		.											.	.	.	0			c.T165C						.						3.0	3.0	3.0					4																	147560457		1733	3503	5236	SO:0001819	synonymous_variant	5458	exon1			TGGTGGTGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.165T>C	4.37:g.147560457T>C		Somatic	6	0		WXS	Illumina HiSeq	.	16	0	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	ENST00000281321.3	37	CCDS34074.1																																																																																			.		0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
ARID1A	8289	broad.mit.edu	37	1	27099298	27099318	+	Splice_Site	DEL	TGGAGCAGGAGCAATTCAGTT	TGGAGCAGGAGCAATTCAGTT	-	rs536241439|rs138311127		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:27099298_27099318delTGGAGCAGGAGCAATTCAGTT	ENST00000324856.7	+	14	3910_3926	c.3539_3555delTGGAGCAGGAGCAATTCAGTT	c.(3538-3555)atggagcaggagcaattc>a	p.MEQEQF1180del	ARID1A_ENST00000457599.2_Splice_Site_p.MEQEQF1180del|ARID1A_ENST00000374152.2_Splice_Site_p.MEQEQF797del|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1180				Missing (in Ref. 10; BAD96995). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCCTCACTCTGGAGCAGGAGCAATTCAGTTGGGATCCAGG	0.484			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.1180_1185del				Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	0			c.3540_3555del						.																																			SO:0001630	splice_region_variant	8289	exon14			TCACTCTGGAGCA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3540-1TGGAGCAGGAGCAATTCAGTT>-	1.37:g.27099298_27099318delTGGAGCAGGAGCAATTCAGTT		Somatic	12	0		WXS	Illumina GAIIx	Phase_I	17	3	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site	DEL	ENST00000324856.7	37	CCDS285.1																																																																																			.		0.484	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	In_Frame_Del
NBPF1	55672	broad.mit.edu	37	1	16892237	16892237	+	Missense_Mutation	SNP	A	A	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:16892237A>C	ENST00000430580.2	-	27	3842	c.2955T>G	c.(2953-2955)tgT>tgG	p.C985W		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	985	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTTGAATAACATCTATCCA	0.473																																					.													.	.	.	0			.						.						26.0	22.0	23.0					1																	16892237		1485	2604	4089	SO:0001583	missense	55672	.			TGAATAACATCTA	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2955T>G	1.37:g.16892237A>C	ENSP00000474456:p.Cys985Trp	Somatic	50	0		WXS	Illumina GAIIx	Phase_I	48	6	.	Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37																																																																																				.		0.473	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
LOC101927587	101927587	broad.mit.edu	37	1	84259365	84259366	+	lincRNA	DEL	TT	TT	-	rs397861369|rs35556882|rs142355605|rs535202518|rs529098500|rs34451670	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:84259365_84259366delTT	ENST00000439186.1	+	0	163				AL035706.1_ENST00000411299.1_RNA|RP11-475O6.1_ENST00000417975.1_lincRNA																							GGAGAGGTCATTTTTTTTTTTT	0.401														655	0.130791	0.1611	0.0951	5008	,	,		16449	0.127		0.1461	False		,,,				2504	0.1033				.													.	.	.	0			.						.																																					0	.			AGGTCATTTTTTT																													1.37:g.84259375_84259376delTT		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	12	5	.		RNA	DEL	ENST00000439186.1	37																																																																																				.		0.401	RP5-836J3.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000027497.1		
ARFGAP2	84364	broad.mit.edu	37	11	47188426	47188426	+	Missense_Mutation	SNP	C	C	T	rs200794218		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:47188426C>T	ENST00000524782.1	-	13	1445	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.R270Q|ARFGAP2_ENST00000395449.3_5'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.R299Q|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.R137Q	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	406	Required for interaction with coatomer.		R -> W (in dbSNP:rs35950498).		protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CACTTCCCTCCGGTTTGTGGC	0.562																																					p.R406Q													.	ARFGAP2	43	0			c.G1217A						.						113.0	118.0	116.0					11																	47188426		2201	4299	6500	SO:0001583	missense	84364	exon13			TCCCTCCGGTTTG	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1217G>A	11.37:g.47188426C>T	ENSP00000434442:p.Arg406Gln	Somatic	13	0		WXS	Illumina GAIIx	Phase_I	28	3	NM_032389	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202708	0.94997	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342;ENST00000527927	T;T;T;T;T;T	0.25085	3.34;3.48;3.03;3.18;1.92;1.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	T	0.58875	-0.7559	10	0.72032	D	0.01	-9.44	20.2985	0.98592	0.0:1.0:0.0:0.0	.	299;270;406	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	Q	270;406;137;299;113;270	ENSP00000400226:R270Q;ENSP00000434442:R406Q;ENSP00000327309:R137Q;ENSP00000389264:R299Q;ENSP00000437305:R113Q;ENSP00000434433:R270Q	ENSP00000327309:R137Q	R	-	2	0	ARFGAP2	47145002	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CGG	.		0.562	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389	
FAM111B	374393	broad.mit.edu	37	11	58893430	58893430	+	Silent	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr11:58893430A>G	ENST00000343597.3	+	4	2051	c.1860A>G	c.(1858-1860)gtA>gtG	p.V620V	FAM111B_ENST00000411426.1_Silent_p.V590V|FAM111B_ENST00000529618.1_Silent_p.V590V	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	620							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						CCAGTAATGTATACTGTATGT	0.403																																					p.V620V													.	FAM111B	84	0			c.A1860G						.						124.0	108.0	113.0					11																	58893430		2201	4295	6496	SO:0001819	synonymous_variant	374393	exon4			TAATGTATACTGT	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1860A>G	11.37:g.58893430A>G		Somatic	43	1		WXS	Illumina GAIIx	Phase_I	75	3	NM_198947	B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	CCDS7972.1																																																																																			.		0.403	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
ORAI1	84876	broad.mit.edu	37	12	122079347	122079347	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr12:122079347C>T	ENST00000330079.7	+	2	903	c.710C>T	c.(709-711)gCt>gTt	p.A237V		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	235					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GGCCAGGCAGCTGCCATCGCC	0.637																																					p.A237V													.	ORAI1	66	0			c.C710T						.						51.0	67.0	62.0					12																	122079347		2194	4287	6481	SO:0001583	missense	84876	exon2			AGGCAGCTGCCAT	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.710C>T	12.37:g.122079347C>T	ENSP00000328216:p.Ala237Val	Somatic	42	0		WXS	Illumina GAIIx	Phase_I	47	3	NM_032790	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942222	0.73672	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.57595	0.39;0.39	5.52	5.52	0.82312	.	0.100261	0.64402	D	0.000002	T	0.73606	0.3608	M	0.82323	2.585	0.80722	D	1	D	0.61080	0.989	P	0.59703	0.862	T	0.77294	-0.2641	10	0.87932	D	0	-19.5323	19.8013	0.96509	0.0:1.0:0.0:0.0	.	235	Q96D31	CRCM1_HUMAN	V	237;132	ENSP00000328216:A237V;ENSP00000441198:A132V	ENSP00000328216:A237V	A	+	2	0	ORAI1	120563730	1.000000	0.71417	0.061000	0.19648	0.060000	0.15804	7.818000	0.86416	2.761000	0.94854	0.591000	0.81541	GCT	.		0.637	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
IRF2BPL	64207	broad.mit.edu	37	14	77493648	77493650	+	In_Frame_Del	DEL	GCG	GCG	-	rs371633333		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr14:77493648_77493650delGCG	ENST00000238647.3	-	1	1384_1386	c.486_488delCGC	c.(484-489)gccgct>gct	p.162_163AA>A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	162	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TTCCACCgcagcggcggcggcgg	0.749																																					p.162_163del													.	IRF2BPL	40	0			c.486_488del						.																																			SO:0001651	inframe_deletion	64207	exon1			ACCGCAGCGGCGG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488delCGC	14.37:g.77493657_77493659delGCG	ENSP00000238647:p.Ala164del	Somatic	4	0		WXS	Illumina GAIIx	Phase_I	16	6	NM_024496	Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	CCDS9854.1																																																																																			.		0.749	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496	
KHNYN	23351	broad.mit.edu	37	14	24900976	24900976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr14:24900976delC	ENST00000251343.5	+	3	648	c.509delC	c.(508-510)tccfs	p.S170fs	CBLN3_ENST00000555436.1_5'Flank|CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000556842.1_Frame_Shift_Del_p.S170fs|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.S170fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	170							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTGCTGCAGTCCCCGGGGGAT	0.637											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S170fs													.	KHNYN	46	0			c.509delC						.						54.0	63.0	60.0					14																	24900976		2203	4300	6503	SO:0001589	frameshift_variant	23351	exon3			TGCAGTCCCCGGG	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.509delC	14.37:g.24900976delC	ENSP00000251343:p.Ser170fs	Somatic	17	0	774	WXS	Illumina GAIIx	Phase_I	6	2	NM_015299	Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	ENST00000251343.5	37	CCDS32058.1																																																																																			.		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1		
DVL2	1856	broad.mit.edu	37	17	7129307	7129307	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:7129307C>T	ENST00000005340.5	-	15	2370	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V	DVL2_ENST00000575458.1_Silent_p.V690V|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	696					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGGAGGCTGCACTGCTGGAG	0.662																																					p.V696V													.	DVL2	49	0			c.G2088A						.						33.0	40.0	38.0					17																	7129307		2202	4299	6501	SO:0001819	synonymous_variant	1856	exon15			AGGCTGCACTGCT	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2088G>A	17.37:g.7129307C>T		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	32	3	NM_004422	D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	CCDS11091.1																																																																																			.		0.662	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422	
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323																																					p.G487E													POTEC,NS,carcinoma,0,2	POTEC	129	2	Substitution - Missense(2)	lung(1)|endometrium(1)	c.G1460A						.						15.0	16.0	16.0					18																	14513734		681	1554	2235	SO:0001583	missense	388468	exon10			GATATTCCAGTGT	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1460G>A	18.37:g.14513734C>T	ENSP00000351856:p.Gly487Glu	Somatic	183	1		WXS	Illumina GAIIx	Phase_I	401	4	NM_001137671		Missense_Mutation	SNP	ENST00000358970.5	37	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006144	0.00426	.	.	ENSG00000183206	ENST00000358970	T	0.27104	1.69	1.38	1.38	0.22167	.	.	.	.	.	T	0.18551	0.0445	L	0.44542	1.39	0.09310	N	1	P	0.50443	0.935	B	0.39094	0.29	T	0.16247	-1.0409	9	0.66056	D	0.02	.	6.1352	0.20227	0.0:1.0:0.0:0.0	.	487	B2RU33	POTEC_HUMAN	E	487	ENSP00000351856:G487E	ENSP00000351856:G487E	G	-	2	0	POTEC	14503734	0.983000	0.35010	0.019000	0.16419	0.011000	0.07611	2.828000	0.48120	1.049000	0.40321	0.205000	0.17691	GGA	.		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
ANKRD36BP2	645784	broad.mit.edu;ucsc.edu	37	2	89076054	89076054	+	RNA	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:89076054G>A	ENST00000393525.3	+	0	438									ankyrin repeat domain 36B pseudogene 2																		TTCAAAAGTAGCCATAAGAAG	0.323																																					.													.	.	.	0			.						.																																					0	.			AAAGTAGCCATAA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89076054G>A		Somatic	41	1		WXS	Illumina GAIIx	Phase_I	86	9	.		RNA	SNP	ENST00000393525.3	37																																																																																				.		0.323	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1		
ANKRD36BP2	645784	broad.mit.edu	37	2	89076056	89076056	+	RNA	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:89076056C>T	ENST00000393525.3	+	0	440									ankyrin repeat domain 36B pseudogene 2																		CAAAAGTAGCCATAAGAAGGA	0.328																																					.													.	.	.	0			.						.																																					0	.			AGTAGCCATAAGA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89076056C>T		Somatic	42	1		WXS	Illumina GAIIx	Phase_I	86	5	.		RNA	SNP	ENST00000393525.3	37																																																																																				.		0.328	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1		
ANKRD36C	400986	broad.mit.edu	37	2	96555601	96555601	+	Missense_Mutation	SNP	T	T	C	rs567101290	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:96555601T>C	ENST00000456556.1	-	48	2989	c.2905A>G	c.(2905-2907)Aat>Gat	p.N969D	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.N220D|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.N390D			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	969							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GGAACAGAATTTTCCTTGTCA	0.318													.|||	4	0.000798722	0.003	0.0	5008	,	,		20197	0.0		0.0	False		,,,				2504	0.0				.													.	.	.	0			.						.																																			SO:0001583	missense	400986	.			CAGAATTTTCCTT	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.2905A>G	2.37:g.96555601T>C	ENSP00000403302:p.Asn969Asp	Somatic	83	0		WXS	Illumina GAIIx	Phase_I	138	7	.	C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37		.	.	.	.	.	.	.	.	.	.	N	0.004	-2.245758	0.00271	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000295246	T;T;T	0.15834	2.39;2.39;2.39	0.852	0.852	0.18995	.	.	.	.	.	T	0.02455	0.0075	N	0.00152	-1.975	0.09310	N	1	.	.	.	.	.	.	T	0.41324	-0.9515	7	0.05620	T	0.96	.	3.3563	0.07171	0.0:0.6915:0.0:0.3085	.	.	.	.	D	220;969;390	ENSP00000415231:N220D;ENSP00000403302:N969D;ENSP00000295246:N390D	ENSP00000295246:N390D	N	-	1	0	AC073995.2	95919328	0.014000	0.17966	0.008000	0.14137	0.044000	0.14063	0.106000	0.15354	-0.053000	0.13289	-1.033000	0.02402	AAT	.		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914	
ANKRD30BL	554226	broad.mit.edu	37	2	132919070	132919070	+	Missense_Mutation	SNP	G	G	C	rs568587234	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:132919070G>C	ENST00000409867.1	-	1	458	c.209C>G	c.(208-210)gCg>gGg	p.A70G	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	70										endometrium(1)|kidney(3)	4						CCTCTTCTTCGCATCTCTTAT	0.617																																					.													.	ANKRD30BL	36	0			.						.																																			SO:0001583	missense	554226	.			TTCTTCGCATCTC			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.209C>G	2.37:g.132919070G>C	ENSP00000386398:p.Ala70Gly	Somatic	38	1		WXS	Illumina GAIIx	Phase_I	74	6	.	B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37		.	.	.	.	.	.	.	.	.	.	.	8.318	0.823626	0.16678	.	.	ENSG00000163046	ENST00000409867	T	0.65916	-0.18	0.484	-0.968	0.10313	.	.	.	.	.	T	0.50599	0.1625	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45977	-0.9224	5	0.56958	D	0.05	.	.	.	.	.	.	.	.	G	70	ENSP00000386398:A70G	ENSP00000295181:A70G	A	-	2	0	ANKRD30BL	132635540	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	-0.352000	0.07701	-1.392000	0.02082	-0.876000	0.02978	GCG	.		0.617	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
LOC728323	728323	broad.mit.edu	37	2	243037116	243037116	+	RNA	SNP	T	T	A	rs540310927	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:243037116T>A	ENST00000456398.1	+	0	248																											GCTGGAAGAATTGTGAATCTT	0.398													.|||	6	0.00119808	0.0023	0.0029	5008	,	,		17557	0.0		0.001	False		,,,				2504	0.0				.													.	.	.	0			.						.																																					0	.			GAAGAATTGTGAA																													2.37:g.243037116T>A		Somatic	35	1		WXS	Illumina GAIIx	Phase_I	85	9	.		RNA	SNP	ENST00000456398.1	37																																																																																				.		0.398	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2		
BAGE2	85319	broad.mit.edu	37	21	11066244	11066249	+	RNA	DEL	CAAAAA	CAAAAA	-	rs202052085|rs201145462|rs57259061		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr21:11066244_11066249delCAAAAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								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)		gactccatctcaaaaacaaaaacaaa	0.403																																					.													.	.	.	0			.						.																																					85319	.			CCATCTCAAAAAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11066250_11066255delCAAAAA		Somatic	5	0		WXS	Illumina GAIIx	Phase_I	6	2	.	A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																				.		0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482	
ETV5	2119	broad.mit.edu	37	3	185798929	185798929	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr3:185798929G>A	ENST00000306376.5	-	6	514	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	ETV5_ENST00000434744.1_Missense_Mutation_p.R90W|ETV5_ENST00000537818.1_Missense_Mutation_p.R132W|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	90					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TGCAGCTCCCGTTTGATCTTG	0.507			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.R90W				Dom	yes		3	3q28	2119	ets variant gene 5		E	.	ETV5	106	0			c.C268T						.						100.0	101.0	101.0					3																	185798929		2203	4300	6503	SO:0001583	missense	2119	exon6			GCTCCCGTTTGAT	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.268C>T	3.37:g.185798929G>A	ENSP00000306894:p.Arg90Trp	Somatic	22	0		WXS	Illumina GAIIx	Phase_I	39	3	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.341758|4.341758	0.81911|0.81911	.|.	.|.	ENSG00000244405|ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301|ENST00000422039	T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58|.	5.22|5.22	4.32|4.32	0.51571|0.51571	PEA3-type ETS-domain transcription factor, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70919|0.70919	0.3279|0.3279	M|M	0.66939|0.66939	2.045|2.045	0.48901|0.48901	D|D	0.99972|0.99972	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.73046|0.73046	-0.4106|-0.4106	10|6	0.87932|0.62326	D|D	0|0.03	.|.	12.2106|12.2106	0.54377|0.54377	0.0:0.0:0.829:0.171|0.0:0.0:0.829:0.171	.|.	90;132|.	P41161;B7Z7D7|.	ETV5_HUMAN;.|.	W|M	90;90;132;90;90;90|127	ENSP00000306894:R90W;ENSP00000413755:R90W;ENSP00000441737:R132W;ENSP00000389707:R90W;ENSP00000412171:R90W;ENSP00000405157:R90W|.	ENSP00000306894:R90W|ENSP00000388737:T127M	R|T	-|-	1|2	2|0	ETV5|ETV5	187281623|187281623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.455000|6.455000	0.73497|0.73497	1.155000|1.155000	0.42497|0.42497	0.563000|0.563000	0.77884|0.77884	CGG|ACG	.		0.507	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
GS1-124K5.2	0	broad.mit.edu	37	7	65948385	65948387	+	RNA	DEL	AAA	AAA	-	rs570221983|rs11767072|rs376786486|rs34929025	byFrequency	TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:65948385_65948387delAAA	ENST00000442578.1	-	0	101																											caacaacaacaaAAAAACAGTTA	0.424														1048	0.209265	0.0688	0.1398	5008	,	,		20878	0.3056		0.2515	False		,,,				2504	0.3057				.													.	.	.	0			.						.																																					0	.			AACAACAAAAAAA																													7.37:g.65948388_65948390delAAA		Somatic	4	0		WXS	Illumina GAIIx	Phase_I	9	5	.		RNA	DEL	ENST00000442578.1	37																																																																																				.		0.424	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1		
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																					.													.	.	.	0			.						.																																					0	.			CTTGACACTTGCC	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G		Somatic	26	0		WXS	Illumina GAIIx	Phase_I	69	5	.	Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																				.		0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634	
TUBBP5	643224	broad.mit.edu	37	9	141069495	141069495	+	RNA	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:141069495C>T	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		GCCTTGGCCACGAGGGAGCTT	0.701																																					.													.	.	.	0			.						.																																					0	.			TGGCCACGAGGGA	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069495C>T		Somatic	43	2		WXS	Illumina GAIIx	Phase_I	41	7	.		RNA	SNP	ENST00000503395.1	37																																																																																				.		0.701	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
MT-CO1	4512	broad.mit.edu	37	M	6825	6825	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chrM:6825G>A	ENST00000361624.2	+	1	922	c.922G>A	c.(922-924)Gct>Act	p.A308T	MT-ATP6_ENST00000361899.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	308					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATTTCACCTCCGCTACCATAA	0.458																																					p.A308T													.	.	.	0			c.G922A						.																																			SO:0001583	missense	4512	exon1			ACCTCCGCTACCA			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.922G>A	M.37:g.6825G>A	ENSP00000354499:p.Ala308Thr	Somatic	27	0		WXS	Illumina GAIIx	Phase_I	14	12	ENST00000361624	Q34770	Missense_Mutation	SNP	ENST00000361624.2	37																																																																																				.		0.458	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028	
CNKSR2	22866	broad.mit.edu	37	X	21534642	21534642	+	Missense_Mutation	SNP	G	G	C			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chrX:21534642G>C	ENST00000379510.3	+	9	886	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	CNKSR2_ENST00000425654.2_Missense_Mutation_p.E284Q|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E284Q	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	284	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E284Q(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGCACTACGAGAGGACCCGAG	0.413																																					p.E284Q													.	CNKSR2	158	1	Substitution - Missense(1)	lung(1)	c.G850C						.						123.0	112.0	115.0					X																	21534642		2203	4300	6503	SO:0001583	missense	22866	exon9			CTACGAGAGGACC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.850G>C	X.37:g.21534642G>C	ENSP00000368824:p.Glu284Gln	Somatic	45	1		WXS	Illumina GAIIx	Phase_I	109	4	NM_001168647	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160334	0.57368	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.28069	1.63;1.63;1.63	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.058118	0.64402	D	0.000001	T	0.48021	0.1477	L	0.49640	1.575	0.80722	D	1	D;B	0.60575	0.988;0.327	P;B	0.60886	0.88;0.241	T	0.42413	-0.9453	10	0.48119	T	0.1	-16.9667	17.8997	0.88900	0.0:0.0:1.0:0.0	.	284;284	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	Q	284	ENSP00000397906:E284Q;ENSP00000279451:E284Q;ENSP00000368824:E284Q	ENSP00000279451:E284Q	E	+	1	0	CNKSR2	21444563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.160000	0.67779	0.594000	0.82650	GAG	.		0.413	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
OBSCN	84033	ucsc.edu	37	1	228503595	228503595	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr1:228503595G>T	ENST00000422127.1	+	50	13104	c.13060G>T	c.(13060-13062)Ggc>Tgc	p.G4354C	OBSCN_ENST00000366709.4_Missense_Mutation_p.G1473C|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4354C|OBSCN_ENST00000570156.2_Missense_Mutation_p.G5311C|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1988C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4354	Ig-like 45.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCGCTGGAGGGCGGCGAGGC	0.692																																					p.G5311C													.	OBSCN	2142	0			c.G15931T						.						17.0	23.0	21.0					1																	228503595		2084	4197	6281	SO:0001583	missense	84033	exon61			CTGGAGGGCGGCG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13060G>T	1.37:g.228503595G>T	ENSP00000409493:p.Gly4354Cys	Somatic	39	0		WXS	Illumina HiSeq		40	4	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590472	0.86851	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.89	4.89	0.63831	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.37461	0.1004	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.34625	-0.9821	10	0.87932	D	0	.	18.0545	0.89360	0.0:0.0:1.0:0.0	.	4354;4354	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	4354;4354;1988;1473	ENSP00000284548:G4354C;ENSP00000409493:G4354C;ENSP00000355668:G1988C;ENSP00000355670:G1473C	ENSP00000284548:G4354C	G	+	1	0	OBSCN	226570218	1.000000	0.71417	0.984000	0.44739	0.518000	0.34316	9.434000	0.97515	2.266000	0.75297	0.313000	0.20887	GGC	.		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ITGA8	8516	ucsc.edu	37	10	15649688	15649688	+	Silent	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr10:15649688G>A	ENST00000378076.3	-	17	2105	c.1752C>T	c.(1750-1752)atC>atT	p.I584I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	584					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAAGGTAAACGATGAAATCCT	0.433																																					p.I584I													.	ITGA8	230	0			c.C1752T						.						217.0	229.0	225.0					10																	15649688		2203	4300	6503	SO:0001819	synonymous_variant	8516	exon17			GTAAACGATGAAA	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1752C>T	10.37:g.15649688G>A		Somatic	17	0		WXS	Illumina HiSeq		37	4	NM_003638	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	CCDS31155.1																																																																																			.		0.433	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
C2CD4A	145741	ucsc.edu;bcgsc.ca	37	15	62359940	62359940	+	Missense_Mutation	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr15:62359940C>T	ENST00000355522.5	+	2	269	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	43						nucleus (GO:0005634)											GTGCTCACTCCGGACCGCATC	0.677																																					p.P43L													.	C2CD4A	3	0			c.C128T						.						23.0	25.0	24.0					15																	62359940		2202	4299	6501	SO:0001583	missense	145741	exon2			TCACTCCGGACCG	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"""nuclear localized factor 1"""	610343	"""family with sequence similarity 148, member A"""	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.128C>T	15.37:g.62359940C>T	ENSP00000347712:p.Pro43Leu	Somatic	28	0		WXS	Illumina HiSeq		42	4	NM_207322		Missense_Mutation	SNP	ENST00000355522.5	37	CCDS32258.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948947	0.92660	.	.	ENSG00000198535	ENST00000355522	T	0.75938	-0.98	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90055	0.4152	10	0.87932	D	0	.	15.6213	0.76808	0.0:1.0:0.0:0.0	.	43	Q8NCU7	C2C4A_HUMAN	L	43	ENSP00000347712:P43L	ENSP00000347712:P43L	P	+	2	0	C2CD4A	60147232	1.000000	0.71417	0.999000	0.59377	0.761000	0.43186	5.061000	0.64319	2.269000	0.75478	0.462000	0.41574	CCG	.		0.677	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322	
CDC27P1	647696	bcgsc.ca	37	2	133020576	133020576	+	IGR	SNP	G	G	A	rs78170507		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:133020576G>A								ANKRD30BL (5034 upstream) : AC097532.2 (22791 downstream)																							TACTCTATTAGGGCGAGAGTT	0.388																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	647696	.			CTATTAGGGCGAG																													2.37:g.133020576G>A		Somatic	47	1		WXS	Illumina HiSeq	Phase_1	89	9	.		RNA	SNP		37																																																																																				G|0.500;A|0.500	0	0.388								
STRADB	55437	bcgsc.ca	37	2	202344886	202344886	+	Silent	SNP	C	C	T	rs146098224		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																					p.Y415Y													.	STRADB	33	0			c.C1245T						.						134.0	136.0	135.0					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437	exon12			CTCATACTGGGAA	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T		Somatic	39	0		WXS	Illumina HiSeq	Phase_1	81	7	NM_018571	Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																			.		0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571	
Unknown	0	bcgsc.ca	37	4	49552258	49552258	+	IGR	SNP	A	A	G	rs10440605		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	A	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:49552258A>G								AC118282.4 (340793 upstream) : AC119751.5 (32783 downstream)																							AACTTAGTGAACTACAAGATT	0.303																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			TAGTGAACTACAA																													4.37:g.49552258A>G		Somatic	152	7		WXS	Illumina HiSeq	Phase_1	241	42	.		RNA	SNP		37																																																																																				.	0	0.303								
MUC21	394263	bcgsc.ca	37	6	30954572	30954572	+	Missense_Mutation	SNP	C	C	T	rs146037191		TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr6:30954572C>T	ENST00000376296.3	+	2	861	c.620C>T	c.(619-621)gCc>gTc	p.A207V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	207	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A207V(2)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGGCCAGCACAGCC	0.627																																					p.A207V													MUC21,NS,malignant_melanoma,0,2	MUC21	98	2	Substitution - Missense(2)	NS(1)|skin(1)	c.C620T						.						152.0	149.0	150.0					6																	30954572		2203	4300	6503	SO:0001583	missense	394263	exon2			GTGGGGCCAGCAC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.620C>T	6.37:g.30954572C>T	ENSP00000365473:p.Ala207Val	Somatic	72	2		WXS	Illumina HiSeq	Phase_1	99	8	NM_001010909	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.968056	0.18659	.	.	ENSG00000204544	ENST00000376296	T	0.02737	4.18	3.86	-1.98	0.07480	.	.	.	.	.	T	0.00356	0.0011	N	0.04508	-0.205	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45190	-0.9278	8	.	.	.	-2.1025	0.8413	0.01150	0.1528:0.2516:0.2999:0.2958	.	207	Q5SSG8	MUC21_HUMAN	V	207	ENSP00000365473:A207V	.	A	+	2	0	MUC21	31062551	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.003000	0.12901	-0.201000	0.10284	-0.424000	0.05967	GCC	C|0.998;T|0.002		0.627	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909	
GARS	2617	bcgsc.ca	37	7	30662040	30662040	+	Silent	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:30662040C>T	ENST00000389266.3	+	12	1816	c.1575C>T	c.(1573-1575)tgC>tgT	p.C525C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	525					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTGATGAGTGCTACATTACAG	0.423																																					p.C525C													.	GARS	52	0			c.C1575T						.						218.0	203.0	208.0					7																	30662040		1948	4156	6104	SO:0001819	synonymous_variant	2617	exon12			TGAGTGCTACATT	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1575C>T	7.37:g.30662040C>T		Somatic	41	0		WXS	Illumina HiSeq	Phase_1	58	4	NM_002047	B3KQA2|B4DIA0|Q969Y1	Silent	SNP	ENST00000389266.3	37	CCDS43564.1																																																																																			.		0.423	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047	
ABCB1	5243	bcgsc.ca	37	7	87229482	87229482	+	Missense_Mutation	SNP	G	G	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr7:87229482G>T	ENST00000265724.3	-	3	436	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	ABCB1_ENST00000543898.1_Missense_Mutation_p.R7S	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	7					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCTCCATTGCGGTCCCCTTCA	0.438																																					p.R7S													.	ABCB1	263	0			c.C19A						.						89.0	85.0	86.0					7																	87229482		2203	4300	6503	SO:0001583	missense	5243	exon3			CATTGCGGTCCCC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.19C>A	7.37:g.87229482G>T	ENSP00000265724:p.Arg7Ser	Somatic	28	0		WXS	Illumina HiSeq	Phase_1	54	4	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	5.035	0.192138	0.09599	.	.	ENSG00000085563	ENST00000265724;ENST00000543898;ENST00000416177;ENST00000394661	D;D;T	0.87179	-2.17;-2.22;1.95	3.86	0.635	0.17723	.	4.454590	0.00725	N	0.000913	T	0.74419	0.3714	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.61983	-0.6950	10	0.22109	T	0.4	3.7449	6.342	0.21328	0.0:0.1689:0.3808:0.4503	.	7;7	B5AK60;P08183	.;MDR1_HUMAN	S	7	ENSP00000265724:R7S;ENSP00000444095:R7S;ENSP00000399419:R7S	ENSP00000265724:R7S	R	-	1	0	ABCB1	87067418	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.415000	0.07106	0.105000	0.17753	-0.169000	0.13324	CGC	.		0.438	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
Unknown	0	bcgsc.ca	37	9	68433564	68433564	+	IGR	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr9:68433564C>A								MIR4477B (18176 upstream) : CR786580.2 (78781 downstream)																							AAGCCATTTTCCCCTAAGTGA	0.338																																					.													.	.	.	0			.						.																																			SO:0001628	intergenic_variant	0	.			CATTTTCCCCTAA																													9.37:g.68433564C>A		Somatic	141	3		WXS	Illumina HiSeq	Phase_1	207	9	.		RNA	SNP		37																																																																																				.	0	0.338								
MIA2	117153	bcgsc.ca	37	14	39703322	39703322	+	Missense_Mutation	SNP	G	G	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	G	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr14:39703322G>A	ENST00000280082.3	+	1	203	c.4G>A	c.(4-6)Gca>Aca	p.A2T	MIA2_ENST00000556784.1_Missense_Mutation_p.A2T|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.A2T	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	2					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTTTAGCATGGCAAAATTTGG	0.418																																					p.A2T													.	MIA2	82	0			c.G4A						.						91.0	87.0	88.0					14																	39703322		2203	4300	6503	SO:0001583	missense	117153	exon1			AGCATGGCAAAAT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.4G>A	14.37:g.39703322G>A	ENSP00000280082:p.Ala2Thr	Somatic	57	0		WXS	Illumina HiSeq	Phase_1	52	4	NM_054024	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876162	0.51801	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.55413	0.79;0.77;0.52;0.55;2.91	5.5	5.5	0.81552	.	0.187652	0.26190	N	0.025802	T	0.51669	0.1688	L	0.60455	1.87	0.24923	N	0.991962	P	0.37158	0.585	B	0.40101	0.319	T	0.54384	-0.8302	10	0.51188	T	0.08	0.0236	11.6039	0.51020	0.0:0.1323:0.7311:0.1366	.	2	Q96PC5-2	.	T	2	ENSP00000451883:A2T;ENSP00000451217:A2T;ENSP00000280082:A2T;ENSP00000451934:A2T;ENSP00000452252:A2T	ENSP00000280082:A2T	A	+	1	0	MIA2;RP11-407N17.3	38773073	0.992000	0.36948	0.984000	0.44739	0.058000	0.15608	2.300000	0.43620	2.741000	0.93983	0.650000	0.86243	GCA	.		0.418	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
AC002539.2	0	bcgsc.ca	37	17	67945017	67945017	+	RNA	SNP	C	C	A			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr17:67945017C>A	ENST00000516291.2	-	0	71																											taggttggtgcaaatgtaatt	0.363																																					.													.	.	.	0			.						.																																					0	.			TTGGTGCAAATGT																													17.37:g.67945017C>A		Somatic	43	0		WXS	Illumina HiSeq	Phase_1	71	6	.		RNA	SNP	ENST00000516291.2	37																																																																																				.		0.363	AC002539.2-201	NOVEL	basic	miRNA	miRNA			
XBP1	7494	bcgsc.ca	37	22	29195030	29195030	+	Intron	SNP	C	C	T			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	C	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr22:29195030C>T	ENST00000216037.6	-	2	397				XBP1_ENST00000405219.3_Intron|XBP1_ENST00000344347.5_Intron|CTA-292E10.6_ENST00000451486.1_RNA|XBP1_ENST00000403532.3_Splice_Site_p.K113K|CTA-292E10.6_ENST00000458080.1_RNA|CTA-292E10.6_ENST00000585003.1_RNA|CTA-292E10.6_ENST00000418292.1_RNA	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AGAGTTTGACCTTAAGTAGTT	0.408																																					.													.	XBP1	37	0			.						.						117.0	98.0	105.0					22																	29195030		2203	4300	6503	SO:0001627	intron_variant	7494	.			TTTGACCTTAAGT	M31627	CCDS13847.1	22q12.1	2013-01-10			ENSG00000100219	ENSG00000100219		"""basic leucine zipper proteins"""	12801	protein-coding gene	gene with protein product		194355		XBP2		1718857, 2196176	Standard	NM_001079539		Approved		uc003aec.3	P17861	OTTHUMG00000151094	ENST00000216037.6:c.324+14G>A	22.37:g.29195030C>T		Somatic	27	0		WXS	Illumina HiSeq	Phase_1	22	4	.	Q8WYK6|Q969P1|Q96BD7	Silent	SNP	ENST00000216037.6	37	CCDS13847.1																																																																																			.		0.408	XBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321274.1	NM_005080	
KIAA0922	23240	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	154525558	154525559	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-4G-AAZT-01A-11D-A417-09	TCGA-4G-AAZT-10A-01D-A41A-09	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	24c3dc90-d1f2-4256-9909-0d0c939c178f	e75e6102-170d-49e4-89e6-7687cad1f6b6	g.chr4:154525558_154525559CC>AA	ENST00000409663.3	+	25	3443_3444	c.3391_3392CC>AA	c.(3391-3393)CCa>AAa	p.P1131K	KIAA0922_ENST00000440693.1_Missense_Mutation_p.P1048K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.P1132K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1131						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCCAGACTTGCCAGAAATTTCC	0.426																																					p.P1132K		.											.	.	.	0			c.C3395A						.																																			SO:0001583	missense	23240	exon25			ACTTGCCAGAAAT	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	Exception_encountered	4.37:g.154525558_154525559delinsAA	ENSP00000386574:p.Pro1131Lys	Somatic	39	0		WXS	Illumina HiSeq	.	58	6	NM_001131007	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	DNP	ENST00000409663.3	37	CCDS3783.2																																																																																			.		0.426	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
