#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADORA3	140	hgsc.bcm.edu;ucsc.edu	37	1	112042593	112042593	+	Silent	SNP	G	G	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:112042593G>A	ENST00000241356.4	-	2	1341	c.936C>T	c.(934-936)agC>agT	p.S312S	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	312					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TCTTCTCAATGCTTGTGTCCA	0.433																																																	0													71.0	72.0	72.0					1																	112042593		2203	4300	6503	SO:0001819	synonymous_variant	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.936C>T	1.37:g.112042593G>A			A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000241356.4	37	CCDS839.1																																																																																				0.433	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1		NM_000677, NM_020683	
ADAR	103	hgsc.bcm.edu;ucsc.edu	37	1	154574162	154574162	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:154574162G>T	ENST00000368474.4	-	2	1155	c.956C>A	c.(955-957)gCt>gAt	p.A319D	ADAR_ENST00000368471.3_Missense_Mutation_p.A24D|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.A362D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	319					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AATATTTTTAGCCAAATTCAG	0.458																																																	0													74.0	75.0	75.0					1																	154574162		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.956C>A	1.37:g.154574162G>T	ENSP00000357459:p.Ala319Asp		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511259	0.85389	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.75	4.75	0.60458	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.120167	0.56097	D	0.000034	T	0.60196	0.2250	M	0.71206	2.165	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.994;0.999	T	0.64385	-0.6420	10	0.72032	D	0.01	-15.007	13.6545	0.62330	0.0:0.155:0.845:0.0	.	319;319;319	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	D	362;319;24;314	ENSP00000292205:A362D;ENSP00000357459:A319D;ENSP00000357456:A24D;ENSP00000431794:A314D	ENSP00000292205:A362D	A	-	2	0	ADAR	152840786	1.000000	0.71417	0.882000	0.34594	0.990000	0.78478	6.746000	0.74866	2.450000	0.82876	0.491000	0.48974	GCT		0.458	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111	
AGK	55750	hgsc.bcm.edu;ucsc.edu	37	7	141352681	141352681	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr7:141352681A>G	ENST00000355413.4	+	16	1486	c.1226A>G	c.(1225-1227)gAt>gGt	p.D409G	AGK_ENST00000473247.1_Missense_Mutation_p.D381G|RP5-894A10.2_ENST00000467537.1_RNA	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	409					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTCTTCTGTGATCCTAGGAAG	0.552																																																	0													96.0	92.0	94.0					7																	141352681		2203	4300	6503	SO:0001583	missense	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1226A>G	7.37:g.141352681A>G	ENSP00000347581:p.Asp409Gly		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933782	0.52866	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.13307	2.6;2.6	5.34	5.34	0.76211	.	0.220172	0.56097	D	0.000035	T	0.12774	0.0310	L	0.57536	1.79	0.80722	D	1	P	0.40144	0.704	B	0.27170	0.077	T	0.10730	-1.0617	10	0.22109	T	0.4	.	15.3251	0.74154	1.0:0.0:0.0:0.0	.	409	Q53H12	AGK_HUMAN	G	409;381	ENSP00000347581:D409G;ENSP00000420776:D381G	ENSP00000347581:D409G	D	+	2	0	AGK	140999150	1.000000	0.71417	0.941000	0.38009	0.986000	0.74619	5.448000	0.66612	2.024000	0.59613	0.533000	0.62120	GAT		0.552	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1		NM_018238	
AMN1	196394	hgsc.bcm.edu;ucsc.edu	37	12	31850698	31850698	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr12:31850698C>G	ENST00000281471.6	-	4	675	c.510G>C	c.(508-510)caG>caC	p.Q170H	AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.Q152H|AMN1_ENST00000537562.1_Missense_Mutation_p.Q152H	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	170										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			AGTCGACACACTGCAAAAATG	0.368																																																	0													103.0	96.0	98.0					12																	31850698		1891	4132	6023	SO:0001583	missense	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.510G>C	12.37:g.31850698C>G	ENSP00000281471:p.Gln170His		B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447139	0.25987	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	5.53	2.69	0.31865	.	0.236449	0.36703	N	0.002453	T	0.02533	0.0077	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.49634	-0.8919	10	0.41790	T	0.15	.	2.862	0.05590	0.1208:0.5264:0.131:0.2218	.	170	Q8IY45	AMN1_HUMAN	H	170;152;152;152	ENSP00000281471:Q170H;ENSP00000441419:Q152H;ENSP00000440967:Q152H;ENSP00000438990:Q152H	ENSP00000281471:Q170H	Q	-	3	2	AMN1	31741965	0.993000	0.37304	0.998000	0.56505	0.982000	0.71751	0.101000	0.15251	0.680000	0.31366	0.455000	0.32223	CAG		0.368	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2		NR_004854	
ATP11B	23200	hgsc.bcm.edu;ucsc.edu	37	3	182616538	182616538	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr3:182616538C>G	ENST00000323116.5	+	28	3556	c.3296C>G	c.(3295-3297)cCt>cGt	p.P1099R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1099					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CACCTCCACCCTACAAGTACT	0.348																																																	0													100.0	92.0	95.0					3																	182616538		2203	4300	6503	SO:0001583	missense	23200			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3296C>G	3.37:g.182616538C>G	ENSP00000321195:p.Pro1099Arg		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.317937|4.317937	0.81469|0.81469	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116;ENST00000442545	.|D	.|0.94000	.|-3.33	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95953|0.95953	0.8682|0.8682	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;1.0;0.723	.|D;D;B	.|0.87578	.|0.998;0.998;0.274	D|D	0.95855|0.95855	0.8878|0.8878	5|10	.|0.59425	.|D	.|0.04	.|.	19.4929|19.4929	0.95059|0.95059	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|41;673;1099	.|E9PDZ3;B3KSJ2;Q9Y2G3	.|.;.;AT11B_HUMAN	V|R	900|1099;41	.|ENSP00000321195:P1099R	.|ENSP00000321195:P1099R	L|P	+|+	1|2	2|0	ATP11B|ATP11B	184099232|184099232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.487000|7.487000	0.81328|0.81328	2.616000|2.616000	0.88540|0.88540	0.585000|0.585000	0.79938|0.79938	CTA|CCT		0.348	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1		NM_014616	
BICC1	80114	hgsc.bcm.edu;ucsc.edu	37	10	60556181	60556181	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr10:60556181G>T	ENST00000373886.3	+	10	1265	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	BICC1_ENST00000263103.1_Missense_Mutation_p.G47W	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	421					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TGAAAGCAGTGGGGTTACCAT	0.493																																																	0													136.0	112.0	120.0					10																	60556181		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1261G>T	10.37:g.60556181G>T	ENSP00000362993:p.Gly421Trp			Missense_Mutation	SNP	ENST00000373886.3	37	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641434	0.87859	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.50001	1.61;0.76	5.18	5.18	0.71444	.	0.091349	0.85682	D	0.000000	T	0.67571	0.2907	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	T	0.67169	-0.5738	10	0.48119	T	0.1	-10.9688	19.0475	0.93027	0.0:0.0:1.0:0.0	.	341;421	E7EU62;Q9H694	.;BICC1_HUMAN	W	421;47	ENSP00000362993:G421W;ENSP00000263103:G47W	ENSP00000263103:G47W	G	+	1	0	BICC1	60226187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.632000	0.98428	2.567000	0.86603	0.655000	0.94253	GGG		0.493	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2		NM_025044	
BRWD3	254065	hgsc.bcm.edu;ucsc.edu	37	X	79941024	79941024	+	Silent	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chrX:79941024C>T	ENST00000373275.4	-	36	4233	c.4017G>A	c.(4015-4017)gaG>gaA	p.E1339E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1339	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCCCTCTTGCTCCTGATGAC	0.378																																																	0													88.0	66.0	73.0					X																	79941024		2203	4299	6502	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4017G>A	X.37:g.79941024C>T			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1		NM_153252	
CANT1	124583	hgsc.bcm.edu;ucsc.edu	37	17	76991241	76991241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr17:76991241C>A	ENST00000302345.2	-	3	1188	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CANT1_ENST00000591773.1_Nonsense_Mutation_p.E232*|CANT1_ENST00000392446.5_Nonsense_Mutation_p.E232*	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	232					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GTCGTCCACTCCTTGCCCAGG	0.627			T	ETV4	prostate																																			Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0													104.0	80.0	88.0					17																	76991241		2203	4300	6503	SO:0001587	stop_gained	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.694G>T	17.37:g.76991241C>A	ENSP00000307674:p.Glu232*		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Nonsense_Mutation	SNP	ENST00000302345.2	37	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	41	8.707024	0.98922	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000339300	.	.	.	4.8	4.8	0.61643	.	0.047663	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.1464	17.8519	0.88750	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;181	.	ENSP00000307674:E232X	E	-	1	0	CANT1	74502836	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.260000	0.78391	2.213000	0.71641	0.462000	0.41574	GAG		0.627	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2		NM_138793	
COL16A1	1307	hgsc.bcm.edu;ucsc.edu	37	1	32138105	32138105	+	Splice_Site	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:32138105T>A	ENST00000373672.3	-	47	3535		c.e47-2		COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTTGTCACCCTGGAGAAGGAT	0.627																																					Colon(143;498 1786 21362 25193 36625)												0													71.0	78.0	76.0					1																	32138105		2068	4186	6254	SO:0001630	splice_region_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3019-2A>T	1.37:g.32138105T>A			Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	T	9.178	1.022743	0.19433	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5655	0.45171	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL16A1	31910692	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	4.306000	0.59117	2.062000	0.61559	0.459000	0.35465	.		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2		NM_001856	Intron
CPSF1	29894	hgsc.bcm.edu	37	8	145623274	145623274	+	Silent	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr8:145623274C>A	ENST00000349769.3	-	20	2062	c.1968G>T	c.(1966-1968)gtG>gtT	p.V656V	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	656					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCATGATGACCACATAGGGGT	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)												0													58.0	55.0	56.0					8																	145623274		2203	4298	6501	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1968G>T	8.37:g.145623274C>A			Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																				0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291	
DDX55	57696	hgsc.bcm.edu;ucsc.edu	37	12	124104644	124104645	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr12:124104644_124104645delAG	ENST00000238146.4	+	14	1810_1811	c.1760_1761delAG	c.(1759-1761)aagfs	p.K587fs	DDX55_ENST00000421670.3_Frame_Shift_Del_p.K194fs|DDX55_ENST00000538744.1_Frame_Shift_Del_p.K556fs	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	587						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AGAACAATCAAGACAGTGGATT	0.411																																																	0																																										SO:0001589	frameshift_variant	57696			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1760_1761delAG	12.37:g.124104644_124104645delAG	ENSP00000238146:p.Lys587fs		Q658L6|Q8IYH0|Q9HCH7	Frame_Shift_Del	DEL	ENST00000238146.4	37	CCDS9251.1																																																																																				0.411	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			
SUPT20HL1	100130302	hgsc.bcm.edu	37	X	24381736	24381736	+	IGR	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chrX:24381736G>T								AC004552.1 (14713 upstream) : PDK3 (101601 downstream)														p.G394R(1)									TGCTAAAGCAGGAAGTTGTGT	0.498																																																	1	Substitution - Missense(1)	skin(1)											179.0	143.0	154.0					X																	24381736		1568	3582	5150	SO:0001628	intergenic_variant	0																															X.37:g.24381736G>T				Nonsense_Mutation	SNP		37																																																																																				0	0.498									
FLG	2312	hgsc.bcm.edu;ucsc.edu	37	1	152287813	152287813	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:152287813T>A	ENST00000368799.1	-	2	155	c.120A>T	c.(118-120)gaA>gaT	p.E40D	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	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			TTTGCCGAAATTCCTTTTCCA	0.333									Ichthyosis																																								0													174.0	180.0	178.0					1																	152287813		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.120A>T	1.37:g.152287813T>A	ENSP00000357789:p.Glu40Asp		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904637	0.33628	.	.	ENSG00000143631	ENST00000368799	T	0.27256	1.68	5.07	0.327	0.15913	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.41627	0.1167	M	0.93241	3.395	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.13150	-1.0520	9	0.87932	D	0	-16.2742	7.1922	0.25832	0.0:0.5252:0.0:0.4748	.	40	P20930	FILA_HUMAN	D	40	ENSP00000357789:E40D	ENSP00000357789:E40D	E	-	3	2	FLG	150554437	0.055000	0.20627	0.007000	0.13788	0.002000	0.02628	-0.035000	0.12205	0.152000	0.19188	-0.397000	0.06425	GAA		0.333	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016	
FUS	2521	hgsc.bcm.edu;ucsc.edu	37	16	31202109	31202110	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:31202109_31202110TG>GT	ENST00000254108.7	+	13	1444_1445	c.1339_1340TG>GT	c.(1339-1341)TGt>GTt	p.C447V	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.C446V|FUS_ENST00000568685.1_Missense_Mutation_p.C448V	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	447	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGCAACCAGTGTAAGGCCCCT	0.52			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0																																										SO:0001583	missense	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	Exception_encountered	16.37:g.31202109_31202110delinsGT	ENSP00000254108:p.Cys447Val		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1																																																																																				0.520	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960	
FUS	2521	hgsc.bcm.edu	37	16	31202112	31202112	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:31202112A>T	ENST00000254108.7	+	13	1447	c.1342A>T	c.(1342-1344)Aag>Tag	p.K448*	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Nonsense_Mutation_p.K447*|FUS_ENST00000568685.1_Nonsense_Mutation_p.K449*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	448	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAACCAGTGTAAGGCCCCTAA	0.517			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0													69.0	72.0	71.0					16																	31202112		2197	4300	6497	SO:0001587	stop_gained	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1342A>T	16.37:g.31202112A>T	ENSP00000254108:p.Lys448*		Q9H4A8	Nonsense_Mutation	SNP	ENST00000254108.7	37	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	37	6.445189	0.97572	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.602	14.3269	0.66526	1.0:0.0:0.0:0.0	.	.	.	.	X	448;377	.	ENSP00000254108:K448X	K	+	1	0	FUS	31109613	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.972000	0.63756	2.025000	0.59659	0.482000	0.46254	AAG		0.517	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960	
FUS	2521	hgsc.bcm.edu;ucsc.edu	37	16	31202116	31202116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:31202116delC	ENST00000254108.7	+	13	1451	c.1346delC	c.(1345-1347)gccfs	p.A449fs	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Frame_Shift_Del_p.A448fs|FUS_ENST00000568685.1_Frame_Shift_Del_p.A450fs	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	449	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGTGTAAGGCCCCTAAACCA	0.507			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																			Dom	yes		16	16p11.2	2521	"""fusion, derived from t(12;16) malignant liposarcoma"""		"""M, L"""	0													68.0	71.0	70.0					16																	31202116		2197	4300	6497	SO:0001589	frameshift_variant	2521			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1346delC	16.37:g.31202116delC	ENSP00000254108:p.Ala449fs		Q9H4A8	Frame_Shift_Del	DEL	ENST00000254108.7	37	CCDS10707.1																																																																																				0.507	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960	
FXYD1	5348	hgsc.bcm.edu;ucsc.edu	37	19	35632104	35632104	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr19:35632104G>T	ENST00000588081.1	+	3	221	c.163G>T	c.(163-165)Gtg>Ttg	p.V55L	FXYD1_ENST00000351325.4_Missense_Mutation_p.V55L|FXYD1_ENST00000588715.1_Missense_Mutation_p.V55L|FXYD1_ENST00000455515.2_Missense_Mutation_p.V55L|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000589209.1_Missense_Mutation_p.V55L|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000586063.1_5'Flank|FXYD7_ENST00000588265.1_5'Flank|FXYD7_ENST00000270310.2_5'Flank|FXYD1_ENST00000588607.1_Missense_Mutation_p.V55L			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	55					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)	chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCCTCATCGTGCTGAGTGA	0.672																																																	0													95.0	69.0	77.0					19																	35632104		2203	4300	6503	SO:0001583	missense	5348				CCDS12445.1	19q13.1	2008-08-01	2008-08-01			ENSG00000266964			4025	protein-coding gene	gene with protein product		602359	"""phospholemman"""	PLM		9169143	Standard	NM_005031		Approved		uc002nyc.3	O00168		ENST00000588081.1:c.163G>T	19.37:g.35632104G>T	ENSP00000467727:p.Val55Leu		A8K196	Missense_Mutation	SNP	ENST00000588081.1	37	CCDS12445.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130447	0.21041	.	.	ENSG00000221857	ENST00000351325;ENST00000455515	T;T	0.59638	0.25;0.25	4.28	-4.77	0.03219	.	0.659026	0.12331	N	0.478392	T	0.38532	0.1044	.	.	.	0.25277	N	0.989463	B	0.29988	0.264	B	0.31547	0.132	T	0.28554	-1.0040	9	0.22706	T	0.39	-6.1526	11.8531	0.52422	0.8471:0.0:0.1529:0.0	.	55	O00168	PLM_HUMAN	L	55	ENSP00000343314:V55L;ENSP00000393611:V55L	ENSP00000343314:V55L	V	+	1	0	FXYD1	40323944	0.956000	0.32656	0.510000	0.27712	0.772000	0.43724	0.063000	0.14410	-0.692000	0.05128	0.478000	0.44815	GTG		0.672	FXYD1-007	KNOWN	alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460761.1		NM_021902	
GABPB1	2553	hgsc.bcm.edu;ucsc.edu	37	15	50596162	50596162	+	Splice_Site	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr15:50596162C>A	ENST00000220429.8	-	3	445		c.e3+1		GABPB1_ENST00000429662.2_Splice_Site|GABPB1_ENST00000396464.3_Splice_Site|GABPB1_ENST00000560825.1_Splice_Site|GABPB1_ENST00000543881.1_Splice_Site|GABPB1_ENST00000380877.3_Splice_Site|GABPB1_ENST00000359031.4_Splice_Site			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						AGAACACATACCTTAAGTAAA	0.393																																																	0													155.0	129.0	138.0					15																	50596162		2196	4295	6491	SO:0001630	splice_region_variant	2553			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.276+1G>T	15.37:g.50596162C>A			A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Splice_Site	SNP	ENST00000220429.8	37	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998374	0.74818	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3599	0.94432	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABPB1	48383454	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.748000	0.85085	2.646000	0.89796	0.563000	0.77884	.		0.393	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			Intron
GPX5	2880	hgsc.bcm.edu;ucsc.edu	37	6	28497339	28497339	+	Missense_Mutation	SNP	G	G	A	rs115051243	byFrequency	TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr6:28497339G>A	ENST00000412168.2	+	2	288	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	GPX5_ENST00000469384.1_Missense_Mutation_p.V67I|GPX5_ENST00000442674.2_3'UTR|GPX6_ENST00000483058.1_5'Flank	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	67					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CATCCTCTTCGTCAACGTGGC	0.428													G|||	23	0.00459265	0.0	0.0014	5008	,	,		16655	0.0079		0.0109	False		,,,				2504	0.0031																0								G	ILE/VAL,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	152.0	121.0	131.0		199,199	2.8	1.0	6	dbSNP_132	131	51,8549	32.8+/-85.7	0,51,4249	yes	missense,missense	GPX5	NM_001509.2,NM_003996.3	29,29	0,55,6448	AA,AG,GG		0.593,0.0908,0.4229	benign,benign	67/222,67/101	28497339	55,12951	2203	4300	6503	SO:0001583	missense	2880			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.199G>A	6.37:g.28497339G>A	ENSP00000392398:p.Val67Ile		A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	CCDS4652.1	15	0.006868131868131868	0	0.0	0	0.0	6	0.01048951048951049	9	0.011873350923482849	G	18.14	3.558758	0.65538	9.08E-4	0.00593	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.04917	3.53;3.53	3.72	2.84	0.33178	Thioredoxin-like fold (2);	0.332419	0.27710	N	0.018170	T	0.18425	0.0442	M	0.91510	3.215	0.44477	D	0.997416	D;B	0.76494	0.999;0.113	D;B	0.81914	0.995;0.118	T	0.01925	-1.1246	10	0.59425	D	0.04	-8.015	9.4387	0.38655	0.1086:0.0:0.8914:0.0	.	67;67	A1A4Y0;O75715	.;GPX5_HUMAN	I	67	ENSP00000392398:V67I;ENSP00000419935:V67I	ENSP00000392398:V67I	V	+	1	0	GPX5	28605318	1.000000	0.71417	0.981000	0.43875	0.810000	0.45777	4.967000	0.63722	1.104000	0.41587	0.655000	0.94253	GTC		0.428	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2			
HERC1	8925	hgsc.bcm.edu;ucsc.edu	37	15	63930676	63930676	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr15:63930676C>G	ENST00000443617.2	-	63	12114	c.12027G>C	c.(12025-12027)caG>caC	p.Q4009H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4009					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTCTGCCAGCTGTCCATGCC	0.443																																																	0													122.0	118.0	119.0					15																	63930676		1970	4138	6108	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12027G>C	15.37:g.63930676C>G	ENSP00000390158:p.Gln4009His		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638171	0.67130	.	.	ENSG00000103657	ENST00000443617	D	0.90788	-2.73	5.42	3.52	0.40303	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000001	D	0.93436	0.7906	M	0.71036	2.16	0.48632	D	0.999682	D	0.65815	0.995	D	0.68621	0.959	D	0.93175	0.6569	10	0.87932	D	0	.	9.2934	0.37800	0.0:0.6684:0.0:0.3316	.	4009	Q15751	HERC1_HUMAN	H	4009	ENSP00000390158:Q4009H	ENSP00000390158:Q4009H	Q	-	3	2	HERC1	61717729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.030000	0.30153	1.298000	0.44778	0.591000	0.81541	CAG		0.443	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922	
IPO5	3843	hgsc.bcm.edu;ucsc.edu	37	13	98666445	98666445	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr13:98666445G>A	ENST00000490680.1	+	19	2367	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	IPO5_ENST00000261574.5_Missense_Mutation_p.E786K|IPO5_ENST00000539640.1_Missense_Mutation_p.E643K			O00410	IPO5_HUMAN	importin 5	768					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGTCCTCTCAGAAATAATGCA	0.333																																																	0													97.0	94.0	95.0					13																	98666445		2203	4300	6503	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2302G>A	13.37:g.98666445G>A	ENSP00000418393:p.Glu768Lys		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716662	0.89205	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.10668	2.85;2.86;2.86;2.85	5.81	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	M	0.82323	2.585	0.80722	D	1	B	0.33807	0.426	B	0.38985	0.287	T	0.02144	-1.1206	10	0.62326	D	0.03	-5.0632	14.6275	0.68632	0.0697:0.0:0.9303:0.0	.	786	O00410-3	.	K	786;768;768;643	ENSP00000261574:E786K;ENSP00000350219:E768K;ENSP00000418393:E768K;ENSP00000445126:E643K	ENSP00000261574:E786K	E	+	1	0	IPO5	97464446	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.547000	0.82146	1.461000	0.47929	0.655000	0.94253	GAA		0.333	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1		NM_002271	
KBTBD4	55709	hgsc.bcm.edu;ucsc.edu	37	11	47599226	47599226	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:47599226T>G	ENST00000526005.1	-	2	479	c.326A>C	c.(325-327)aAa>aCa	p.K109T	NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000450908.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000395288.2_Missense_Mutation_p.K109T|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.K125T|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_Missense_Mutation_p.K134T|KBTBD4_ENST00000525720.1_Missense_Mutation_p.K158T|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000534208.1_5'Flank			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						AGCTCGAAGTTTCACAGTCCC	0.498																																																	0													104.0	108.0	106.0					11																	47599226		2201	4298	6499	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.326A>C	11.37:g.47599226T>G	ENSP00000433340:p.Lys109Thr		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299415	0.60195	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.53	4.39	0.52855	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	N	0.12569	0.235	0.58432	D	0.999995	D;P;D	0.56746	0.971;0.872;0.977	P;B;P	0.50231	0.501;0.399;0.635	T	0.42275	-0.9461	10	0.21540	T	0.41	-13.8976	11.6822	0.51463	0.0:0.071:0.0:0.929	.	125;109;134	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	T	109;134;109;125;125;158;109;109;109;134	ENSP00000433340:K109T;ENSP00000436713:K134T;ENSP00000378703:K109T;ENSP00000415106:K125T;ENSP00000434477:K158T;ENSP00000433404:K109T;ENSP00000433653:K109T;ENSP00000435651:K109T;ENSP00000433124:K134T	ENSP00000352971:K125T	K	-	2	0	KBTBD4	47555802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	2.092000	0.63282	0.459000	0.35465	AAA		0.498	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1		NM_016506	
KLF3	51274	hgsc.bcm.edu;ucsc.edu	37	4	38698823	38698823	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr4:38698823A>G	ENST00000261438.5	+	6	1282	c.977A>G	c.(976-978)gAc>gGc	p.D326G		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	326					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CCGGACTGTGACCGCAGCTTC	0.522																																																	0													222.0	192.0	202.0					4																	38698823		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.977A>G	4.37:g.38698823A>G	ENSP00000261438:p.Asp326Gly		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945431	0.92593	.	.	ENSG00000109787	ENST00000261438	T	0.18174	2.23	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.05574	-0.02	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	T	0.20672	-1.0268	10	0.49607	T	0.09	.	15.802	0.78458	1.0:0.0:0.0:0.0	.	326	P57682	KLF3_HUMAN	G	326	ENSP00000261438:D326G	ENSP00000261438:D326G	D	+	2	0	KLF3	38375218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.135000	0.66039	0.528000	0.53228	GAC		0.522	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			
LY96	23643	hgsc.bcm.edu	37	8	74903724	74903724	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr8:74903724C>G	ENST00000284818.2	+	1	138	c.47C>G	c.(46-48)aCt>aGt	p.T16S	LY96_ENST00000518893.1_Missense_Mutation_p.T16S	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	16					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCATATTTACTGAAGCTCAG	0.363																																					GBM(131;1357 1748 34893 50149 52212)												0													210.0	198.0	202.0					8																	74903724		2203	4300	6503	SO:0001583	missense	23643			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.47C>G	8.37:g.74903724C>G	ENSP00000284818:p.Thr16Ser		B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957487	0.34565	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.52057	2.07;0.68	5.34	3.51	0.40186	.	0.534254	0.18435	N	0.141319	T	0.45115	0.1326	L	0.57536	1.79	0.27686	N	0.946269	P	0.40970	0.734	B	0.42798	0.398	T	0.31752	-0.9932	10	0.30078	T	0.28	.	9.7268	0.40337	0.0:0.8315:0.0:0.1685	.	16	Q9Y6Y9	LY96_HUMAN	S	16	ENSP00000284818:T16S;ENSP00000430533:T16S	ENSP00000284818:T16S	T	+	2	0	LY96	75066278	0.962000	0.33011	0.992000	0.48379	0.362000	0.29581	0.935000	0.28924	1.481000	0.48307	0.655000	0.94253	ACT		0.363	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2		NM_015364	
MUC4	4585	hgsc.bcm.edu	37	3	195507852	195507852	+	Silent	SNP	G	G	A	rs553180031	byFrequency	TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr3:195507852G>A	ENST00000463781.3	-	2	11058	c.10599C>T	c.(10597-10599)caC>caT	p.H3533H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.H3533H|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)		GAGGCGTGGCGTGACCGGTGG	0.612													.|||	4	0.000798722	0.0008	0.0	5008	,	,		12078	0.003		0.0	False		,,,				2504	0.0																0													31.0	30.0	31.0					3																	195507852		676	1579	2255	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10599C>T	3.37:g.195507852G>A			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.612	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYH7B	57644	hgsc.bcm.edu;ucsc.edu	37	20	33567237	33567237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr20:33567237G>T	ENST00000262873.7	+	4	354	c.262G>T	c.(262-264)Gag>Tag	p.E88*		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	46	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCCTACGTGGAGGCCGAGGT	0.602																																																	0													41.0	48.0	45.0					20																	33567237		2018	4192	6210	SO:0001587	stop_gained	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.262G>T	20.37:g.33567237G>T	ENSP00000262873:p.Glu88*		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Nonsense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.527859	0.96446	.	.	ENSG00000078814	ENST00000262873	.	.	.	4.87	3.92	0.45320	.	0.564328	0.14167	N	0.336972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6142	0.62097	0.0757:0.0:0.9243:0.0	.	.	.	.	X	88	.	ENSP00000262873:E88X	E	+	1	0	MYH7B	33030898	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.455000	0.60075	1.268000	0.44264	0.561000	0.74099	GAG		0.602	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884	
MYO5C	55930	hgsc.bcm.edu;ucsc.edu	37	15	52505431	52505431	+	Silent	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr15:52505431T>C	ENST00000261839.7	-	34	4256	c.4095A>G	c.(4093-4095)caA>caG	p.Q1365Q		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1365						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCTCTTGTATTGCAGCATTC	0.443																																																	0													111.0	101.0	104.0					15																	52505431		1924	4133	6057	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4095A>G	15.37:g.52505431T>C			Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.443	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728	
NHS	4810	hgsc.bcm.edu;ucsc.edu	37	X	17745494	17745494	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chrX:17745494G>C	ENST00000380060.3	+	6	3543	c.3205G>C	c.(3205-3207)Gat>Cat	p.D1069H	NHS_ENST00000398097.3_Missense_Mutation_p.D913H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1090					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACCCATCTTGATCTAAGTGC	0.393																																																	0													183.0	169.0	174.0					X																	17745494		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3205G>C	X.37:g.17745494G>C	ENSP00000369400:p.Asp1069His		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289968	0.59976	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.52754	0.65;0.68	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.73304	-0.4025	10	0.72032	D	0.01	-21.7951	19.1834	0.93632	0.0:0.0:1.0:0.0	.	1090;911;913;1069	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	1069;913;911	ENSP00000369400:D1069H;ENSP00000381170:D913H	ENSP00000369397:D911H	D	+	1	0	NHS	17655415	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.482000	0.83794	0.544000	0.68410	GAT		0.393	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1		NM_198270	
OR4K5	79317	hgsc.bcm.edu;ucsc.edu	37	14	20389123	20389123	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr14:20389123T>C	ENST00000315915.4	+	1	383	c.358T>C	c.(358-360)Tat>Cat	p.Y120H		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCGATGGCCTATGACAGGTA	0.458																																																	0													220.0	223.0	222.0					14																	20389123		2203	4300	6503	SO:0001583	missense	79317			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.358T>C	14.37:g.20389123T>C	ENSP00000319511:p.Tyr120His		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.415339	0.62511	.	.	ENSG00000176281	ENST00000315915	T	0.00487	7.05	4.41	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000336	T	0.01287	0.0042	M	0.87827	2.91	0.30384	N	0.781659	D	0.76494	0.999	D	0.64687	0.928	T	0.03344	-1.1046	10	0.87932	D	0	.	8.5434	0.33406	0.1721:0.0:0.0:0.8279	.	120	Q8NGD3	OR4K5_HUMAN	H	120	ENSP00000319511:Y120H	ENSP00000319511:Y120H	Y	+	1	0	OR4K5	19458963	0.998000	0.40836	1.000000	0.80357	0.878000	0.50629	3.504000	0.53347	1.838000	0.53458	0.533000	0.62120	TAT		0.458	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1		NM_001005483	
PALB2	79728	hgsc.bcm.edu;ucsc.edu	37	16	23647615	23647615	+	Silent	SNP	G	G	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr16:23647615G>T	ENST00000261584.4	-	4	404	c.252C>A	c.(250-252)atC>atA	p.I84I		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	84	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GATGGGTTTTGATGTGTAACT	0.328			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													50.0	49.0	50.0					16																	23647615		2197	4300	6497	SO:0001819	synonymous_variant	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.252C>A	16.37:g.23647615G>T			A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	CCDS32406.1																																																																																				0.328	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2		NM_024675	
PANK1	53354	hgsc.bcm.edu;ucsc.edu	37	10	91348527	91348530	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	TCTA	TCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr10:91348527_91348530delTCTA	ENST00000307534.4	-	6	1771_1774	c.1616_1619delTAGA	c.(1615-1620)atagacfs	p.ID539fs	PANK1_ENST00000371774.2_Frame_Shift_Del_p.ID341fs|PANK1_ENST00000322191.6_Frame_Shift_Del_p.ID255fs|PANK1_ENST00000342512.3_Frame_Shift_Del_p.ID314fs	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	539					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CACAACTCTGTCTATGTTCTGGAA	0.363																																																	0																																										SO:0001589	frameshift_variant	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1616_1619delTAGA	10.37:g.91348527_91348530delTCTA	ENSP00000302108:p.Ile539fs		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Frame_Shift_Del	DEL	ENST00000307534.4	37	CCDS31244.1																																																																																				0.363	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
PIAS2	9063	hgsc.bcm.edu;ucsc.edu	37	18	44424802	44424803	+	Splice_Site	DEL	TC	TC	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr18:44424802_44424803delTC	ENST00000585916.1	-	7	861	c.862delGA	c.(862-864)gaa>aa	p.E288fs	PIAS2_ENST00000324794.7_Splice_Site_p.E288fs|PIAS2_ENST00000545673.1_5'UTR	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	288	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATAGAGTAATTCTACAAACAAA	0.302																																																	0																																										SO:0001630	splice_region_variant	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.862-1GA>-	18.37:g.44424802_44424803delTC			O75927|Q96BT5|Q96KE3	Frame_Shift_Del	DEL	ENST00000585916.1	37	CCDS32824.1																																																																																				0.302	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2		NM_004671	Frame_Shift_Del
PIK3R2	5296	hgsc.bcm.edu;ucsc.edu	37	19	18273796	18273796	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr19:18273796C>A	ENST00000593731.1	+	10	1689	c.1129C>A	c.(1129-1131)Ctg>Atg	p.L377M	PIK3R2_ENST00000222254.8_Missense_Mutation_p.L377M			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	377	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GAACAATAAGCTGATCAAGGT	0.567																																																	0													102.0	82.0	89.0					19																	18273796		2203	4300	6503	SO:0001583	missense	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1129C>A	19.37:g.18273796C>A	ENSP00000471914:p.Leu377Met		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356421	0.24598	.	.	ENSG00000105647	ENST00000222254	T	0.63255	-0.03	3.69	0.00261	0.14051	SH2 motif (4);	0.157254	0.43110	D	0.000611	T	0.76026	0.3930	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.73553	-0.3946	10	0.87932	D	0	-18.9996	6.4773	0.22043	0.0:0.6175:0.132:0.2505	.	377	O00459	P85B_HUMAN	M	377	ENSP00000222254:L377M	ENSP00000222254:L377M	L	+	1	2	PIK3R2	18134796	1.000000	0.71417	0.358000	0.25811	0.003000	0.03518	1.622000	0.36997	0.001000	0.14605	-0.291000	0.09656	CTG		0.567	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2		NM_005027	
PLAG1	5324	hgsc.bcm.edu;ucsc.edu	37	8	57080005	57080005	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr8:57080005C>T	ENST00000316981.3	-	5	779	c.300G>A	c.(298-300)atG>atA	p.M100I	PLAG1_ENST00000429357.2_Missense_Mutation_p.M100I|PLAG1_ENST00000423799.2_Missense_Mutation_p.M18I	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	100	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCCGGTGAAACATTTTCTCAC	0.373			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													87.0	74.0	78.0					8																	57080005		2202	4300	6502	SO:0001583	missense	5324			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.300G>A	8.37:g.57080005C>T	ENSP00000325546:p.Met100Ile		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357017	0.41801	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.76060	2.26;-0.99;2.26	5.82	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.036203	0.85682	D	0.000000	T	0.56543	0.1992	N	0.08118	0	0.80722	D	1	P	0.43826	0.818	B	0.38985	0.287	T	0.59643	-0.7416	10	0.31617	T	0.26	-22.1219	16.6892	0.85317	0.0:0.8703:0.1297:0.0	.	100	Q6DJT9	PLAG1_HUMAN	I	100;18;100	ENSP00000325546:M100I;ENSP00000404067:M18I;ENSP00000416537:M100I	ENSP00000325546:M100I	M	-	3	0	PLAG1	57242559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.396000	0.46663	0.585000	0.79938	ATG		0.373	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1		NM_002655	
PLG	5340	hgsc.bcm.edu;ucsc.edu	37	6	161139413	161139413	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr6:161139413C>G	ENST00000308192.9	+	8	938	c.875C>G	c.(874-876)tCc>tGc	p.S292C		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	292	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTTACCGTGTCCGGGCACACC	0.542																																																	0													147.0	140.0	142.0					6																	161139413		2203	4300	6503	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.875C>G	6.37:g.161139413C>G	ENSP00000308938:p.Ser292Cys		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927574	0.73327	.	.	ENSG00000122194	ENST00000308192	T	0.68025	-0.3	5.3	5.3	0.74995	Kringle (4);Kringle-like fold (1);	0.000000	0.38381	U	0.001717	D	0.87229	0.6125	H	0.98594	4.275	0.41906	D	0.990441	D	0.62365	0.991	D	0.63113	0.911	D	0.91963	0.5580	10	0.87932	D	0	.	18.1034	0.89513	0.0:1.0:0.0:0.0	.	292	P00747	PLMN_HUMAN	C	292	ENSP00000308938:S292C	ENSP00000308938:S292C	S	+	2	0	PLG	161059403	0.986000	0.35501	0.001000	0.08648	0.003000	0.03518	6.739000	0.74827	2.644000	0.89710	0.655000	0.94253	TCC		0.542	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2		NM_000301	
RPL27	6155	hgsc.bcm.edu;ucsc.edu	37	17	41154694	41154694	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr17:41154694T>A	ENST00000589913.1	+	3	530	c.256T>A	c.(256-258)Tct>Act	p.S86T	RPL27_ENST00000590864.1_Missense_Mutation_p.S30T|RPL27_ENST00000589037.1_Missense_Mutation_p.S86T|RPL27_ENST00000253788.5_Missense_Mutation_p.S86T			P61353	RL27_HUMAN	ribosomal protein L27	86					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCCCAGGTACTCTGTGGATAT	0.532																																																	0													72.0	71.0	71.0					17																	41154694		2203	4300	6503	SO:0001583	missense	6155				CCDS11449.1	17q21	2011-04-06				ENSG00000131469		"""L ribosomal proteins"""	10328	protein-coding gene	gene with protein product	"""60S ribosomal protein L27"""	607526				1302024	Standard	NM_000988		Approved	L27	uc002icj.3	P61353		ENST00000589913.1:c.256T>A	17.37:g.41154694T>A	ENSP00000464813:p.Ser86Thr		P08526|Q4G0A9	Missense_Mutation	SNP	ENST00000589913.1	37	CCDS11449.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.952161	0.34471	.	.	ENSG00000131469	ENST00000253788	.	.	.	5.52	5.52	0.82312	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.46819	1.47	0.80722	D	1	B	0.22983	0.078	B	0.25614	0.062	T	0.51132	-0.8744	9	0.08381	T	0.77	-15.18	15.9347	0.79694	0.0:0.0:0.0:1.0	.	86	P61353	RL27_HUMAN	T	86	.	ENSP00000253788:S86T	S	+	1	0	RPL27	38408220	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.040000	0.89188	2.221000	0.72209	0.528000	0.53228	TCT		0.532	RPL27-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452472.1		NM_000988	
SLC22A6	9356	hgsc.bcm.edu;ucsc.edu	37	11	62751877	62751877	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:62751877C>T	ENST00000377871.3	-	1	552	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	SLC22A6_ENST00000360421.4_Missense_Mutation_p.A96T|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A96T|SLC22A6_ENST00000458333.2_Missense_Mutation_p.A96T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	96					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTGCCATTGGCTTCTGTGCCA	0.637																																																	0													91.0	89.0	90.0					11																	62751877		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.286G>A	11.37:g.62751877C>T	ENSP00000367102:p.Ala96Thr		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	3.773	-0.047313	0.07407	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.71	0.257	0.15574	Major facilitator superfamily domain (1);	1.348330	0.04393	N	0.362828	T	0.18551	0.0445	N	0.01464	-0.85	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.12837	0.008;0.005;0.003;0.007	T	0.19224	-1.0312	10	0.11485	T	0.65	.	4.3322	0.11069	0.0:0.3949:0.3184:0.2867	.	96;96;96;96	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	T	96;75;96;96;96	ENSP00000353597:A96T;ENSP00000367102:A96T;ENSP00000396401:A96T;ENSP00000404441:A96T	ENSP00000353597:A96T	A	-	1	0	SLC22A6	62508453	0.000000	0.05858	0.022000	0.16811	0.899000	0.52679	-1.506000	0.02271	0.180000	0.19960	0.557000	0.71058	GCC		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1		NM_004790	
SLC22A8	9376	hgsc.bcm.edu;ucsc.edu	37	11	62782189	62782189	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:62782189T>C	ENST00000336232.2	-	2	377	c.242A>G	c.(241-243)aAt>aGt	p.N81S	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N81S|SLC22A8_ENST00000311438.8_Missense_Mutation_p.N81S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	81					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CAGGCTGGCATTGGGCGGATG	0.612																																																	0													170.0	171.0	170.0					11																	62782189		2201	4298	6499	SO:0001583	missense	9376			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.242A>G	11.37:g.62782189T>C	ENSP00000337335:p.Asn81Ser		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366212	0.61513	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	D;D;D	0.82803	-1.65;-1.65;-1.65	5.14	5.14	0.70334	.	0.332281	0.32548	N	0.005948	D	0.85353	0.5677	L	0.39085	1.19	0.23440	N	0.997675	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.983	T	0.76501	-0.2936	10	0.25106	T	0.35	.	12.9647	0.58478	0.0:0.0:0.0:1.0	.	81;81	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	S	81;67;81;81	ENSP00000337335:N81S;ENSP00000311463:N81S;ENSP00000398548:N81S	ENSP00000311463:N81S	N	-	2	0	SLC22A8	62538765	0.982000	0.34865	0.837000	0.33122	0.728000	0.41692	2.069000	0.41481	2.148000	0.66965	0.533000	0.62120	AAT		0.612	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1		NM_004254	
SLC44A1	23446	hgsc.bcm.edu;ucsc.edu	37	9	108128708	108128708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr9:108128708C>T	ENST00000374720.3	+	12	1739	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q290*|SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q498*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q498*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	498					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTATTTAAATCAGGtaaaata	0.308																																																	0													36.0	36.0	36.0					9																	108128708		2203	4299	6502	SO:0001587	stop_gained	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1492C>T	9.37:g.108128708C>T	ENSP00000363852:p.Gln498*		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Nonsense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	C	41	8.534441	0.98852	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	.	.	.	5.56	5.56	0.83823	.	0.101787	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-19.0835	19.8857	0.96911	0.0:1.0:0.0:0.0	.	.	.	.	X	498;498;498;290	.	ENSP00000341856:Q290X	Q	+	1	0	SLC44A1	107168529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.494000	0.66905	2.771000	0.95319	0.650000	0.86243	CAG		0.308	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1		NM_080546	
STRN	6801	hgsc.bcm.edu;ucsc.edu	37	2	37126774	37126774	+	Silent	SNP	G	G	A	rs548893424		TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr2:37126774G>A	ENST00000263918.4	-	6	695	c.687C>T	c.(685-687)tcC>tcT	p.S229S	STRN_ENST00000379213.2_Silent_p.S217S	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	229					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.S229S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TATCCAGCACGGAGGCAGAAT	0.358																																																	1	Substitution - coding silent(1)	large_intestine(1)											64.0	62.0	62.0					2																	37126774		2202	4299	6501	SO:0001819	synonymous_variant	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.687C>T	2.37:g.37126774G>A			Q3KP65|Q53TQ8|Q9NP38	Silent	SNP	ENST00000263918.4	37	CCDS1784.1																																																																																				0.358	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			
TADA1	117143	hgsc.bcm.edu;ucsc.edu	37	1	166826919	166826919	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:166826919G>A	ENST00000367874.4	-	8	986	c.893C>T	c.(892-894)gCt>gTt	p.A298V	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	298					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AATGTTAAGAGCATAGACAGT	0.433																																																	0													144.0	142.0	142.0					1																	166826919		2203	4300	6503	SO:0001583	missense	117143			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.893C>T	1.37:g.166826919G>A	ENSP00000356848:p.Ala298Val		A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957002	0.73902	.	.	ENSG00000152382	ENST00000367874	T	0.51071	0.72	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.65498	2.005	0.46298	D	0.998974	P	0.47034	0.889	P	0.46796	0.527	T	0.53394	-0.8445	9	0.59425	D	0.04	-8.9363	15.1518	0.72706	0.0:0.0:1.0:0.0	.	298	Q96BN2	TADA1_HUMAN	V	298	ENSP00000356848:A298V	ENSP00000356848:A298V	A	-	2	0	TADA1	165093543	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.080000	0.94040	2.486000	0.83907	0.655000	0.94253	GCT		0.433	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1		NM_053053	
TMEM2	23670	hgsc.bcm.edu;ucsc.edu	37	9	74315738	74315738	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr9:74315738T>C	ENST00000377044.4	-	19	3736	c.3197A>G	c.(3196-3198)aAt>aGt	p.N1066S	TMEM2_ENST00000396272.3_Missense_Mutation_p.N59S|TMEM2_ENST00000377066.5_Missense_Mutation_p.N1003S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1066					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AATCCAGTCATTCCTTTAAAG	0.378																																																	0													73.0	70.0	71.0					9																	74315738		2203	4300	6503	SO:0001583	missense	23670				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3197A>G	9.37:g.74315738T>C	ENSP00000366243:p.Asn1066Ser		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.358926	0.61403	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.17	6.17	0.99709	.	0.324328	0.39687	N	0.001300	T	0.40272	0.1110	L	0.44542	1.39	0.39063	D	0.960555	B;B	0.17667	0.014;0.023	B;B	0.22152	0.017;0.038	T	0.20505	-1.0273	10	0.40728	T	0.16	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1066;1003	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	S	1066;1003;59;95	ENSP00000366243:N1066S;ENSP00000366266:N1003S;ENSP00000379569:N59S;ENSP00000366254:N95S	ENSP00000366243:N1066S	N	-	2	0	TMEM2	73505558	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.147000	0.58078	2.371000	0.80710	0.533000	0.62120	AAT		0.378	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		NM_013390	
TRIM24	8805	hgsc.bcm.edu;ucsc.edu	37	7	138269684	138269684	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr7:138269684G>C	ENST00000343526.4	+	19	3356	c.3141G>C	c.(3139-3141)caG>caC	p.Q1047H	TRIM24_ENST00000415680.2_Missense_Mutation_p.Q1013H			O15164	TIF1A_HUMAN	tripartite motif containing 24	1047					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGAACGCCAGTTGCTTAAAT	0.333																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													49.0	51.0	50.0					7																	138269684		2195	4292	6487	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.3141G>C	7.37:g.138269684G>C	ENSP00000340507:p.Gln1047His		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245953	0.39697	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.77229	-1.07;-1.08	5.85	2.88	0.33553	.	0.290936	0.33631	N	0.004711	T	0.63721	0.2535	L	0.40543	1.245	0.29636	N	0.845058	B;B	0.11235	0.003;0.004	B;B	0.09377	0.002;0.004	T	0.59188	-0.7501	10	0.62326	D	0.03	-12.0856	3.1611	0.06521	0.143:0.1144:0.5235:0.2191	.	1047;1013	O15164;O15164-2	TIF1A_HUMAN;.	H	1047;439;958;1013	ENSP00000340507:Q1047H;ENSP00000390829:Q1013H	ENSP00000340507:Q1047H	Q	+	3	2	TRIM24	137920224	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.851000	0.27751	1.480000	0.48289	0.650000	0.86243	CAG		0.333	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1		NM_015905	
UCP2	7351	hgsc.bcm.edu;ucsc.edu	37	11	73686108	73686108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr11:73686108C>A	ENST00000310473.3	-	8	1716	c.874G>T	c.(874-876)Gag>Tag	p.E292*	UCP2_ENST00000536983.1_3'UTR	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	292	Purine nucleotide binding. {ECO:0000250}.				aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TTCAGCTGCTCATAGGTGACG	0.567																																					Colon(191;388 2040 43557 45622 48925)												0													91.0	82.0	85.0					11																	73686108		2200	4293	6493	SO:0001587	stop_gained	7351			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.874G>T	11.37:g.73686108C>A	ENSP00000312029:p.Glu292*		Q4PJH8|Q53HM3	Nonsense_Mutation	SNP	ENST00000310473.3	37	CCDS8228.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539340	0.96474	.	.	ENSG00000175567	ENST00000310473;ENST00000544615	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.8528	18.9492	0.92635	0.0:1.0:0.0:0.0	.	.	.	.	X	292;265	.	ENSP00000312029:E292X	E	-	1	0	UCP2	73363756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.691000	0.84191	2.825000	0.97269	0.655000	0.94253	GAG		0.567	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398108.1		NM_003355	
VCAN	1462	hgsc.bcm.edu;ucsc.edu	37	5	82789433	82789433	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr5:82789433T>G	ENST00000265077.3	+	4	1079	c.514T>G	c.(514-516)Tgt>Ggt	p.C172G	VCAN_ENST00000343200.5_Missense_Mutation_p.C172G|VCAN_ENST00000512590.2_Missense_Mutation_p.C124G|VCAN_ENST00000342785.4_Missense_Mutation_p.C172G|VCAN_ENST00000513984.1_Missense_Mutation_p.C172G|VCAN_ENST00000502527.2_Missense_Mutation_p.C172G	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	172	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCAGAAGGCTTGTTTGGACGT	0.517																																																	0													109.0	100.0	103.0					5																	82789433		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.514T>G	5.37:g.82789433T>G	ENSP00000265077:p.Cys172Gly		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470645	0.84533	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.78	5.78	0.91487	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.64402	D	0.000002	T	0.76564	0.4005	H	0.99026	4.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.86599	0.1865	10	0.87932	D	0	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	172;172;172;172;172	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	G	172;172;172;124;172;172;172	ENSP00000265077:C172G;ENSP00000340062:C172G;ENSP00000342768:C172G;ENSP00000425959:C124G;ENSP00000426251:C172G;ENSP00000426715:C172G;ENSP00000421362:C172G	ENSP00000265077:C172G	C	+	1	0	VCAN	82825189	1.000000	0.71417	0.873000	0.34254	0.923000	0.55619	7.997000	0.88414	2.333000	0.79357	0.482000	0.46254	TGT		0.517	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385	
WDR17	116966	hgsc.bcm.edu;ucsc.edu	37	4	177084327	177084327	+	Missense_Mutation	SNP	G	G	A	rs144009080	byFrequency	TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr4:177084327G>A	ENST00000280190.4	+	23	3101	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	WDR17_ENST00000393643.2_Missense_Mutation_p.R958H|WDR17_ENST00000508596.1_Missense_Mutation_p.R958H|WDR17_ENST00000507824.2_Missense_Mutation_p.R965H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	982										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACCTGATTCGCGGAAATGAA	0.468													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16443	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG,HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	134.0	125.0	128.0		2945,2873	4.9	0.7	4	dbSNP_134	128	0,8600		0,0,4300	yes	missense,missense	WDR17	NM_170710.4,NM_181265.3	29,29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging,probably-damaging	982/1323,958/1284	177084327	6,13000	2203	4300	6503	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2945G>A	4.37:g.177084327G>A	ENSP00000280190:p.Arg982His		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.47	3.630103	0.67015	0.001362	0.0	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.18;0.2;0.14	5.72	4.88	0.63580	.	0.061286	0.64402	D	0.000002	T	0.74733	0.3755	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.78023	-0.2366	10	0.72032	D	0.01	-20.5872	14.8715	0.70462	0.0692:0.0:0.9308:0.0	.	958;958;982	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	H	958;958;982;965	ENSP00000422763:R958H;ENSP00000377258:R958H;ENSP00000280190:R982H	ENSP00000280190:R982H	R	+	2	0	WDR17	177321321	1.000000	0.71417	0.676000	0.29932	0.308000	0.27856	8.992000	0.93519	1.414000	0.47017	0.655000	0.94253	CGC		0.468	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			
ZNF415	55786	hgsc.bcm.edu	37	19	53611977	53611977	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr19:53611977T>A	ENST00000500065.4	-	4	1654	c.1321A>T	c.(1321-1323)Aag>Tag	p.K441*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.K489*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.K453*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.K428*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.K489*|ZNF415_ENST00000601493.1_Nonsense_Mutation_p.K211*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.K441*|ZNF415_ENST00000595193.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCATTACACTTGTAAGGTTTC	0.413																																																	0													155.0	144.0	148.0					19																	53611977		2203	4300	6503	SO:0001587	stop_gained	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1321A>T	19.37:g.53611977T>A	ENSP00000439435:p.Lys441*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	36	5.869266	0.97049	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.61	-0.822	0.10819	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999964	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.5776	0.00706	0.1727:0.2375:0.176:0.4139	.	.	.	.	X	441;441;489;453;489;428	.	ENSP00000243643:K441X	K	-	1	0	ZNF415	58303789	0.000000	0.05858	0.000000	0.03702	0.620000	0.37586	-1.276000	0.02815	-0.102000	0.12197	0.260000	0.18958	AAG		0.413	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1		NM_018355	
ZSCAN20	7579	hgsc.bcm.edu;ucsc.edu	37	1	33960735	33960736	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-B8-5553-01A-01D-1534-10	TCGA-B8-5553-10A-01D-1535-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c19e63c-770b-4289-aa47-9b2cf261b4ca	75bb1bff-de4f-4658-a829-26dd76d57e77	g.chr1:33960735_33960736delTA	ENST00000361328.3	+	8	2944_2945	c.2791_2792delTA	c.(2791-2793)tatfs	p.Y931fs		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	931					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAGAAGCCGTATAAATGTGTG	0.525																																																	0																																										SO:0001589	frameshift_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2791_2792delTA	1.37:g.33960737_33960738delTA	ENSP00000355053:p.Tyr931fs		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Frame_Shift_Del	DEL	ENST00000361328.3	37	CCDS41300.1																																																																																				0.525	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2		NM_145238	
