#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADD1	118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2906737	2906737	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:2906737A>G	ENST00000398129.1	+	9	1428	c.1408A>G	c.(1408-1410)Act>Gct	p.T470A	ADD1_ENST00000398123.2_Missense_Mutation_p.T470A|ADD1_ENST00000513328.2_Missense_Mutation_p.T470A|ADD1_ENST00000503455.2_Missense_Mutation_p.T470A|ADD1_ENST00000264758.7_Missense_Mutation_p.T470A|ADD1_ENST00000398125.1_Missense_Mutation_p.T470A|ADD1_ENST00000355842.3_Missense_Mutation_p.T470A|ADD1_ENST00000446856.1_Missense_Mutation_p.T470A			P35611	ADDA_HUMAN	adducin 1 (alpha)	470					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)	p.T470A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAGTCGAAGACTAAGGTGTG	0.542																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												1	Substitution - Missense(1)	kidney(1)											127.0	100.0	109.0					4																	2906737		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1408A>G	4.37:g.2906737A>G	ENSP00000381197:p.Thr470Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332701	0.81801	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.55	5.55	0.83447	.	0.047229	0.85682	D	0.000000	T	0.45175	0.1329	M	0.79926	2.475	0.80722	D	1	P;P;P;D;P;P	0.58268	0.632;0.715;0.753;0.982;0.571;0.857	B;B;B;P;B;P	0.58577	0.314;0.403;0.265;0.841;0.124;0.493	T	0.47509	-0.9112	10	0.54805	T	0.06	-24.8559	15.6886	0.77430	1.0:0.0:0.0:0.0	.	470;470;470;470;470;470	B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;ADDA_HUMAN;.;.;.	A	470	ENSP00000264758:T470A;ENSP00000399828:T470A;ENSP00000381193:T470A;ENSP00000421907:T470A;ENSP00000423024:T470A;ENSP00000348100:T470A;ENSP00000381191:T470A;ENSP00000381197:T470A	ENSP00000264758:T470A	T	+	1	0	ADD1	2876535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.929000	0.70096	2.110000	0.64415	0.533000	0.62120	ACT		0.542	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1		NM_014189	
AGA	175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	178352921	178352921	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:178352921A>T	ENST00000264595.2	-	9	1109	c.982T>A	c.(982-984)Ttc>Atc	p.F328I	AGA_ENST00000506853.1_5'Flank	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	328					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.F328I(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TAAACCATGAAACTAAACTGA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											99.0	97.0	97.0					4																	178352921		2203	4300	6503	SO:0001583	missense	175			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.982T>A	4.37:g.178352921A>T	ENSP00000264595:p.Phe328Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	A	34	5.296474	0.95574	.	.	ENSG00000038002	ENST00000264595	D	0.87256	-2.23	5.76	5.76	0.90799	.	0.131276	0.64402	D	0.000001	D	0.93452	0.7911	M	0.88105	2.93	0.80722	D	1	D	0.54772	0.968	P	0.58970	0.849	D	0.93978	0.7255	10	0.52906	T	0.07	-30.6081	16.0247	0.80536	1.0:0.0:0.0:0.0	.	328	P20933	ASPG_HUMAN	I	328	ENSP00000264595:F328I	ENSP00000264595:F328I	F	-	1	0	AGA	178589915	1.000000	0.71417	0.930000	0.37139	0.993000	0.82548	8.185000	0.89704	2.324000	0.78689	0.533000	0.62120	TTC		0.343	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1		NM_000027	
AKT3	10000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	243859016	243859016	+	Missense_Mutation	SNP	C	C	T	rs397514606		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:243859016C>T	ENST00000366539.1	-	3	249	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	AKT3_ENST00000366540.1_Missense_Mutation_p.E17K|AKT3_ENST00000336199.5_Missense_Mutation_p.E17K|AKT3_ENST00000263826.5_Missense_Mutation_p.E17K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	17	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in MPPH2 and melanoma; results in activation of AKT). {ECO:0000269|PubMed:18813315, ECO:0000269|PubMed:22500628, ECO:0000269|PubMed:22729223}.		mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E17K(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			TTTATATATTCTCCTACATGA	0.348																																																	4	Substitution - Missense(4)	kidney(3)|skin(1)											62.0	64.0	64.0					1																	243859016		2202	4298	6500	SO:0001583	missense	10000			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.49G>A	1.37:g.243859016C>T	ENSP00000355497:p.Glu17Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013029	0.93346	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.66	4.75	0.60458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.048205	0.85682	N	0.000000	T	0.59473	0.2196	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.64466	-0.6401	10	0.72032	D	0.01	.	14.8844	0.70557	0.0:0.931:0.0:0.069	.	17;17	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	K	17	ENSP00000336943:E17K;ENSP00000355498:E17K;ENSP00000355497:E17K;ENSP00000263826:E17K;ENSP00000447820:E17K	ENSP00000263826:E17K	E	-	1	0	AKT3	241925639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	1.535000	0.49220	0.655000	0.94253	GAA		0.348	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1		NM_181690	
ANK2	287	hgsc.bcm.edu;ucsc.edu	37	4	114277376	114277376	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:114277376delC	ENST00000357077.4	+	38	7655	c.7602delC	c.(7600-7602)agcfs	p.S2534fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.S2501fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2534					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAGGGAAGAGCCCCCTTTCTC	0.532																																																	0													100.0	104.0	103.0					4																	114277376		2203	4300	6503	SO:0001589	frameshift_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7602delC	4.37:g.114277376delC	ENSP00000349588:p.Ser2534fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	ENST00000357077.4	37	CCDS3702.1																																																																																				0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2		NM_001148	
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	3'UTR	INS	-	-	ACACACACACAC	rs72337199|rs66701434|rs373439915	byFrequency	TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr10:50534969_50534970insACACACACACAC	ENST00000374144.3	+	0	4667_4668				C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						CAAAACAAGCAacacacacaca	0.5																																																	1	Unknown(1)	prostate(1)																																								SO:0001624	3_prime_UTR_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*72->ACACACACACAC	10.37:g.50534969_50534970insACACACACACAC		Somatic		WXS	Illumina GAIIx	Phase_I	A0AVL8	In_Frame_Ins	INS	ENST00000374144.3	37	CCDS44387.1																																																																																				0.500	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2		NM_199459	
C11orf24	53838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68029933	68029933	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:68029933G>A	ENST00000304271.6	-	4	932	c.530C>T	c.(529-531)aCc>aTc	p.T177I	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	177						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T177I(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						AGTGGACGGGGTCCGCCCTGT	0.627																																					NSCLC(21;855 905 4198 36694)												1	Substitution - Missense(1)	kidney(1)											48.0	49.0	49.0					11																	68029933		2200	4294	6494	SO:0001583	missense	53838			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.530C>T	11.37:g.68029933G>A	ENSP00000307264:p.Thr177Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093720	0.36952	.	.	ENSG00000171067	ENST00000304271	T	0.34072	1.38	4.38	2.46	0.29980	.	0.975373	0.08333	N	0.962069	T	0.28797	0.0714	L	0.43152	1.355	0.22305	N	0.999214	P	0.36837	0.571	B	0.30029	0.11	T	0.17107	-1.0380	10	0.52906	T	0.07	4.5661	9.358	0.38179	0.0867:0.148:0.7653:0.0	.	177	Q96F05	CK024_HUMAN	I	177	ENSP00000307264:T177I	ENSP00000307264:T177I	T	-	2	0	C11orf24	67786509	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.408000	0.34668	0.971000	0.38288	-0.378000	0.06908	ACC		0.627	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1		NM_022338	
PCNXL4	64430	hgsc.bcm.edu	37	14	60592395	60592396	+	In_Frame_Ins	INS	-	-	TAT	rs201595102	byFrequency	TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr14:60592395_60592396insTAT	ENST00000406854.1	+	10	3675_3676	c.3121_3122insTAT	c.(3121-3123)cca>cTATca	p.1041_1041P>LS	PCNXL4_ENST00000406949.1_In_Frame_Ins_p.807_807P>LS|PCNXL4_ENST00000535349.1_In_Frame_Ins_p.248_248P>LS|PCNXL4_ENST00000404681.2_In_Frame_Ins_p.1041_1041P>LS|PCNXL4_ENST00000317623.4_In_Frame_Ins_p.807_807P>LS			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1041						integral component of membrane (GO:0016021)											AAGTTTAGGTCCAATAGAAGAC	0.317														121	0.0241613	0.0847	0.0058	5008	,	,		17078	0.0		0.001	False		,,,				2504	0.0041																0										318,3946		10,298,1824						4.1	1.0			54	20,8228		0,20,4104	no	coding	C14orf135	NM_022495.5		10,318,5928	A1A1,A1R,RR		0.2425,7.4578,2.7014				338,12174				SO:0001652	inframe_insertion	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	Exception_encountered	14.37:g.60592395_60592396insTAT	ENSP00000384801:p.Pro1041delinsLeuSer	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXM2|Q9BQG8|Q9H9F2	In_Frame_Ins	INS	ENST00000406854.1	37																																																																																					0.317	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1		NM_022495	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201030579	201030579	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:201030579A>T	ENST00000362061.3	-	25	3297	c.3071T>A	c.(3070-3072)aTa>aAa	p.I1024K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1024K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1024	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I1024K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATTGGAGTCTATGGCCTTGTA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											120.0	108.0	112.0					1																	201030579		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3071T>A	1.37:g.201030579A>T	ENSP00000355192:p.Ile1024Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.538314	0.85917	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98617	-5.03;-5.03	5.21	5.21	0.72293	Ion transport (1);	0.043838	0.85682	D	0.000000	D	0.99318	0.9761	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98839	1.0754	10	0.87932	D	0	.	15.3483	0.74359	1.0:0.0:0.0:0.0	.	1024	Q13698	CAC1S_HUMAN	K	1024	ENSP00000355192:I1024K;ENSP00000356307:I1024K	ENSP00000355192:I1024K	I	-	2	0	CACNA1S	199297202	1.000000	0.71417	0.976000	0.42696	0.811000	0.45836	9.267000	0.95665	2.087000	0.62958	0.459000	0.35465	ATA		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CALCOCO2	10241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46928942	46928944	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	GAT	GAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:46928942_46928944delGAT	ENST00000258947.3	+	7	755_757	c.654_656delGAT	c.(652-657)aagatg>aag	p.M219del	CALCOCO2_ENST00000509507.1_In_Frame_Del_p.M240del|CALCOCO2_ENST00000416445.2_In_Frame_Del_p.M177del|CALCOCO2_ENST00000448105.2_In_Frame_Del_p.M243del|CALCOCO2_ENST00000508679.1_In_Frame_Del_p.M147del	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	219					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AAAACCAGAAGATGTCCTCAGAA	0.419																																																	0																																										SO:0001651	inframe_deletion	10241			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.654_656delGAT	17.37:g.46928942_46928944delGAT	ENSP00000258947:p.Met219del	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	In_Frame_Del	DEL	ENST00000258947.3	37	CCDS11538.1																																																																																				0.419	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1		NM_005831	
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227216801	227216801	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:227216801A>G	ENST00000366769.3	-	29	5175	c.3884T>C	c.(3883-3885)cTg>cCg	p.L1295P	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L1275P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L1308P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L1267P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L1295P|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L1330P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L1214P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.L1214P(1)|p.L1330P(1)|p.L1295P(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTTTCTGACAGCTTGTAAAA	0.468																																																	3	Substitution - Missense(3)	kidney(3)											63.0	52.0	56.0					1																	227216801		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3884T>C	1.37:g.227216801A>G	ENSP00000355731:p.Leu1295Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141030	0.77775	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.32	5.32	0.75619	.	0.070494	0.64402	D	0.000018	T	0.28732	0.0712	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.995;0.999;0.993;0.996;0.996;0.996;0.998	D;P;D;D;D;D;D;D	0.79108	0.929;0.904;0.992;0.976;0.97;0.945;0.956;0.982	T	0.01484	-1.1343	10	0.87932	D	0	.	15.5874	0.76495	1.0:0.0:0.0:0.0	.	1275;1267;610;192;1214;1295;1330;497	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.;.	P	1295;1214;1295;1330;1267;610;1275;1308	ENSP00000355731:L1295P;ENSP00000355729:L1214P;ENSP00000335341:L1295P;ENSP00000355728:L1330P;ENSP00000355726:L1267P;ENSP00000443275:L1275P;ENSP00000355727:L1308P	ENSP00000335341:L1295P	L	-	2	0	CDC42BPA	225283424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.153000	0.67306	0.477000	0.44152	CTG		0.468	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826	
CELSR3	1951	broad.mit.edu	37	3	48682540	48682540	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr3:48682540G>A	ENST00000164024.4	-	25	8180	c.7900C>T	c.(7900-7902)Cca>Tca	p.P2634S	CELSR3_ENST00000544264.1_Missense_Mutation_p.P2639S|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2634					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P2634S(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGTTGCGTGGCTCAACCTGC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											54.0	52.0	53.0					3																	48682540		2202	4300	6502	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7900C>T	3.37:g.48682540G>A	ENSP00000164024:p.Pro2634Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744461	0.49151	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.60920	0.15;0.15	5.24	4.35	0.52113	GPCR, family 2-like (1);	.	.	.	.	T	0.44052	0.1275	N	0.13198	0.31	0.28638	N	0.907295	B;B	0.30146	0.131;0.27	B;B	0.34931	0.145;0.192	T	0.44711	-0.9310	9	0.49607	T	0.09	.	12.3393	0.55085	0.0:0.432:0.568:0.0	.	2634;2731	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	2634;2639	ENSP00000164024:P2634S;ENSP00000445694:P2639S	ENSP00000164024:P2634S	P	-	1	0	CELSR3	48657544	1.000000	0.71417	0.975000	0.42487	0.919000	0.55068	3.629000	0.54266	2.450000	0.82876	0.561000	0.74099	CCA		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407	
CHM	1121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	85213896	85213896	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chrX:85213896A>C	ENST00000357749.2	-	6	818	c.789T>G	c.(787-789)atT>atG	p.I263M	CHM_ENST00000537751.1_Missense_Mutation_p.I115M|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	263					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.I263M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GAAATGCAAGAATCCTGGTAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											90.0	81.0	84.0					X																	85213896		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.789T>G	X.37:g.85213896A>C	ENSP00000350386:p.Ile263Met	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987103	0.53934	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85861	-2.04;-2.04	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.83012	2.62	0.46478	D	0.999067	D	0.89917	1.0	D	0.87578	0.998	D	0.91589	0.5285	10	0.54805	T	0.06	-3.9815	9.6703	0.40008	0.8424:0.0:0.0:0.1576	.	263	P24386	RAE1_HUMAN	M	263;115	ENSP00000350386:I263M;ENSP00000441728:I115M	ENSP00000350386:I263M	I	-	3	3	CHM	85100552	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.856000	0.27818	1.605000	0.50152	0.345000	0.21793	ATT		0.353	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3		NM_000390	
CSK	1445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75092775	75092775	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr15:75092775G>A	ENST00000220003.9	+	6	1214	c.485G>A	c.(484-486)gGa>gAa	p.G162E	CSK_ENST00000439220.2_Missense_Mutation_p.G162E|CSK_ENST00000567571.1_Missense_Mutation_p.G162E|CSK_ENST00000309470.9_Missense_Mutation_p.G162E	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	162	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)	p.G162E(1)		central_nervous_system(1)|lung(2)	3						GACGCAGATGGACTCTGTACG	0.617											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											113.0	94.0	101.0					15																	75092775		2197	4296	6493	SO:0001583	missense	1445				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.485G>A	15.37:g.75092775G>A	ENSP00000220003:p.Gly162Glu	Somatic	1157	WXS	Illumina HiSeq	Phase_I	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336389	0.95758	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.29655	1.56;1.56;1.56	5.44	5.44	0.79542	SH2 motif (3);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76132	-0.3071	10	0.87932	D	0	-14.6834	19.0554	0.93062	0.0:0.0:1.0:0.0	.	162	P41240	CSK_HUMAN	E	162;162;111;162	ENSP00000220003:G162E;ENSP00000414764:G162E;ENSP00000438808:G162E	ENSP00000220003:G162E	G	+	2	0	CSK	72879828	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	7.304000	0.78882	2.837000	0.97791	0.655000	0.94253	GGA		0.617	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2		NM_004383	
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A	rs531283952		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr7:21657267G>A	ENST00000409508.3	+	23	4157	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	DNAH11_ENST00000328843.6_Missense_Mutation_p.V1381I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1381	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1381F(1)|p.V1381I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0014	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											55.0	55.0	55.0					7																	21657267		1887	4106	5993	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4126G>A	7.37:g.21657267G>A	ENSP00000475939:p.Val1376Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	5.366	0.252759	0.10185	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.48	2.44	0.29823	Dynein heavy chain, domain-2 (1);	0.624196	0.14824	N	0.296281	T	0.41766	0.1173	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31336	-0.9947	9	0.49607	T	0.09	.	4.7959	0.13272	0.0847:0.1064:0.573:0.2359	.	1381	Q96DT5	DYH11_HUMAN	I	1381	ENSP00000330671:V1381I	ENSP00000330671:V1381I	V	+	1	0	DNAH11	21623792	0.000000	0.05858	0.055000	0.19348	0.034000	0.12701	0.206000	0.17375	0.705000	0.31890	-1.303000	0.01326	GTC		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
DNAH2	146754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7680805	7680805	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:7680805C>A	ENST00000572933.1	+	33	6560	c.5100C>A	c.(5098-5100)aaC>aaA	p.N1700K	DNAH2_ENST00000389173.2_Missense_Mutation_p.N1700K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1700	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1700K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAGGGGGAACTTGACCAAGA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											305.0	298.0	301.0					17																	7680805		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5100C>A	17.37:g.7680805C>A	ENSP00000458355:p.Asn1700Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113480	0.20795	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21734	1.99	5.51	3.5	0.40072	.	0.054606	0.64402	D	0.000001	T	0.11110	0.0271	L	0.28014	0.82	0.80722	D	1	B	0.25563	0.129	B	0.20184	0.028	T	0.07443	-1.0772	10	0.02654	T	1	.	9.6106	0.39661	0.0:0.7699:0.0:0.2301	.	1700	Q9P225	DYH2_HUMAN	K	1700	ENSP00000373825:N1700K	ENSP00000353818:N1700K	N	+	3	2	DNAH2	7621530	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	0.523000	0.22925	1.327000	0.45338	0.585000	0.79938	AAC		0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877	
ECSIT	51295	hgsc.bcm.edu	37	19	11618629	11618630	+	Frame_Shift_Ins	INS	-	-	G	rs34803265|rs536766936|rs145047143	byFrequency	TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:11618629_11618630insG	ENST00000270517.7	-	6	967_968	c.832_833insC	c.(832-834)cgcfs	p.R278fs	CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000252440.7_Intron|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000588998.1_Intron|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000592312.1_Frame_Shift_Ins_p.A209fs|ECSIT_ENST00000417981.2_Frame_Shift_Ins_p.R64fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	278			R -> C (in dbSNP:rs34803265). {ECO:0000269|Ref.1}.		BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGGATTGTGGCGGGCCAGGGCG	0.629																																																	0																																										SO:0001589	frameshift_variant	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.833dupC	19.37:g.11618632_11618632dupG	ENSP00000270517:p.Arg278fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Frame_Shift_Ins	INS	ENST00000270517.7	37	CCDS12262.1																																																																																				0.629	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2		NM_016581	
EML2	24139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46136177	46136177	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:46136177T>C	ENST00000245925.3	-	6	502	c.452A>G	c.(451-453)cAc>cGc	p.H151R	EML2_ENST00000586902.1_5'Flank|EML2_ENST00000589876.1_Missense_Mutation_p.H151R|EML2_ENST00000536630.1_Missense_Mutation_p.H298R|EML2_ENST00000587152.1_Missense_Mutation_p.H352R	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	151	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.H151R(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCCCAGCACGTGTAAGGTGGA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											108.0	91.0	97.0					19																	46136177		2203	4300	6503	SO:0001583	missense	24139			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.452A>G	19.37:g.46136177T>C	ENSP00000245925:p.His151Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455809	0.84209	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.38560	1.13;1.13;5.09	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.32530	0.975	0.80722	D	1	D;P;D;D;P	0.89917	1.0;0.928;0.999;1.0;0.928	D;P;D;D;P	0.87578	0.998;0.742;0.991;0.996;0.609	T	0.33033	-0.9884	10	0.11485	T	0.65	-30.8838	12.649	0.56751	0.0:0.0:0.0:1.0	.	151;317;298;309;151	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	R	298;151;352;309	ENSP00000442365:H298R;ENSP00000245925:H151R;ENSP00000382503:H309R	ENSP00000245925:H151R	H	-	2	0	EML2	50828017	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.416000	0.80143	2.075000	0.62263	0.460000	0.39030	CAC		0.622	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1		NM_012155	
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92533045	92533045	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:92533045A>G	ENST00000298047.6	+	9	6883	c.6866A>G	c.(6865-6867)cAg>cGg	p.Q2289R	FAT3_ENST00000525166.1_Missense_Mutation_p.Q2139R|FAT3_ENST00000409404.2_Missense_Mutation_p.Q2289R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2289	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q2289R(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTTTCGATCAGCCTACATAC	0.413										TCGA Ovarian(4;0.039)																																							2	Substitution - Missense(2)	kidney(2)											100.0	88.0	92.0					11																	92533045		1910	4125	6035	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6866A>G	11.37:g.92533045A>G	ENSP00000298047:p.Gln2289Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	11.90	1.777294	0.31411	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59906	0.23;0.23;0.23	5.94	5.94	0.96194	.	.	.	.	.	T	0.54127	0.1839	L	0.60904	1.88	0.80722	D	1	B	0.25486	0.127	B	0.27076	0.076	T	0.53215	-0.8470	9	0.42905	T	0.14	.	11.4841	0.50344	0.866:0.0:0.0:0.134	.	2289	Q8TDW7-3	.	R	2289;2289;2139	ENSP00000298047:Q2289R;ENSP00000387040:Q2289R;ENSP00000432586:Q2139R	ENSP00000298047:Q2289R	Q	+	2	0	FAT3	92172693	0.995000	0.38212	0.408000	0.26446	0.937000	0.57800	6.081000	0.71309	2.275000	0.75901	0.528000	0.53228	CAG		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
GALNT14	79623	hgsc.bcm.edu;ucsc.edu	37	2	31165110	31165110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:31165110delC	ENST00000349752.5	-	9	1527	c.888delG	c.(886-888)gggfs	p.G296fs	GALNT14_ENST00000324589.5_Frame_Shift_Del_p.G301fs|GALNT14_ENST00000356174.3_Frame_Shift_Del_p.G263fs|GALNT14_ENST00000420311.2_Frame_Shift_Del_p.G261fs|GALNT14_ENST00000406653.1_Frame_Shift_Del_p.G276fs|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	296	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TATCATATTTCCCCAGGTAAT	0.493																																																	0													145.0	132.0	136.0					2																	31165110		2203	4300	6503	SO:0001589	frameshift_variant	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.888delG	2.37:g.31165110delC	ENSP00000288988:p.Gly296fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Frame_Shift_Del	DEL	ENST00000349752.5	37	CCDS1773.2																																																																																				0.493	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1		NM_024572	
FN1	2335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216245654	216245654	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:216245654C>G	ENST00000359671.1	-	32	5306	c.5041G>C	c.(5041-5043)Gat>Cat	p.D1681H	FN1_ENST00000432072.2_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.D1681H|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000346544.3_Missense_Mutation_p.D1681H|FN1_ENST00000357009.2_Missense_Mutation_p.D1681H|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Missense_Mutation_p.D1681H|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.D1681H|FN1_ENST00000356005.4_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.D1772H|FN1_ENST00000323926.6_Missense_Mutation_p.D1772H			P02751	FINC_HUMAN	fibronectin 1	1681	Fibronectin type-III 12; extra domain. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.D1681H(1)|p.D1772H(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCTTCACCATCAGGTGCAGGG	0.542																																																	2	Substitution - Missense(2)	kidney(2)											116.0	106.0	110.0					2																	216245654		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5041G>C	2.37:g.216245654C>G	ENSP00000352696:p.Asp1681His	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	16.15	3.041010	0.55003	.	.	ENSG00000115414	ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.03	6.03	0.97812	.	0.231334	0.37761	N	0.001947	T	0.61825	0.2378	N	0.17872	0.535	0.38677	D	0.952455	D;B;D;B;D;D	0.71674	0.998;0.002;0.997;0.018;0.995;0.984	D;B;D;B;D;P	0.80764	0.994;0.014;0.972;0.021;0.934;0.894	T	0.63444	-0.6636	10	0.45353	T	0.12	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1681;1772;1681;1681;1682;1772	F8W7G7;P02751-7;E9PE77;P02751-3;E7ERA1;P02751-15	.;.;.;.;.;.	H	1772;1681;1772;1682;1681;1681;1681;1681;1681	ENSP00000323534:D1772H;ENSP00000338200:D1681H;ENSP00000346839:D1772H;ENSP00000352696:D1681H;ENSP00000265312:D1681H;ENSP00000273049:D1681H;ENSP00000349509:D1681H;ENSP00000410422:D1681H	ENSP00000265313:D1682H	D	-	1	0	FN1	215953899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.700000	0.54786	2.854000	0.98071	0.655000	0.94253	GAT		0.542	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476	
HIVEP2	3097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	143094139	143094139	+	Silent	SNP	T	T	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr6:143094139T>A	ENST00000367604.1	-	4	2376	c.1737A>T	c.(1735-1737)ccA>ccT	p.P579P	HIVEP2_ENST00000367603.2_Silent_p.P579P|HIVEP2_ENST00000012134.2_Silent_p.P579P			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P579P(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCACGGTCCCTGGATAGAATA	0.507																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												1	Substitution - coding silent(1)	kidney(1)											85.0	84.0	84.0					6																	143094139		1951	4148	6099	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1737A>T	6.37:g.143094139T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				0.507	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			
JRK	8629	hgsc.bcm.edu	37	8	143746088	143746089	+	RNA	DEL	CA	CA	-	rs559317070|rs33951456		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr8:143746088_143746089delCA	ENST00000507178.2	-	0	1721_1722							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ttctgaactccacacacaacct	0.678														5007	0.9998	1.0	1.0	5008	,	,		16045	0.999		1.0	False		,,,				2504	1.0																0																																												8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746094_143746095delCA		Somatic		WXS	Illumina HiSeq	Phase_I	O75565	Frame_Shift_Del	DEL	ENST00000507178.2	37																																																																																					0.678	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1		NM_003724	
JUN	3725	hgsc.bcm.edu	37	1	59248076	59248076	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:59248076G>C	ENST00000371222.2	-	1	1709	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	223					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TTCAGGGCCTGCAGCCGCGGG	0.716			A		sarcoma																																			Dom	yes		1	1p32-p31	3725	jun oncogene		M	0													17.0	20.0	19.0					1																	59248076		2173	4265	6438	SO:0001583	missense	3725			AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.667C>G	1.37:g.59248076G>C	ENSP00000360266:p.Gln223Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	8.185	0.794638	0.16327	.	.	ENSG00000177606	ENST00000371222	T	0.29655	1.56	4.05	4.05	0.47172	Jun-like transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.363846	0.26220	U	0.025632	T	0.37046	0.0989	M	0.72118	2.19	0.46798	D	0.999203	B	0.32862	0.387	B	0.41135	0.348	T	0.23476	-1.0187	10	0.06099	T	0.92	1.8893	16.4242	0.83809	0.0:0.0:1.0:0.0	.	223	P05412	JUN_HUMAN	E	223	ENSP00000360266:Q223E	ENSP00000360266:Q223E	Q	-	1	0	JUN	59020664	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.040000	0.64191	2.098000	0.63641	0.561000	0.74099	CAG		0.716	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1		NM_002228	
JUP	3728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	39927930	39927930	+	Silent	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:39927930G>A	ENST00000393931.3	-	2	295	c.177C>T	c.(175-177)acC>acT	p.T59T	JUP_ENST00000540235.1_Silent_p.T59T|JUP_ENST00000310706.5_Silent_p.T59T|JUP_ENST00000393930.1_Silent_p.T59T	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	59					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)	p.T59T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGGTGTAAGTGGTGGTTTTCT	0.632																																					Colon(16;42 520 6044 17852 28530)												1	Substitution - coding silent(1)	kidney(1)											78.0	80.0	79.0					17																	39927930		2203	4300	6503	SO:0001819	synonymous_variant	3728			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.177C>T	17.37:g.39927930G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																				0.632	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			
KCNJ8	3764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21918783	21918783	+	Silent	SNP	G	G	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr12:21918783G>T	ENST00000240662.2	-	3	1494	c.1149C>A	c.(1147-1149)cgC>cgA	p.R383R	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	383					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.R383R(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCATGGAGTTGCGCTTCCTCA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											164.0	162.0	163.0					12																	21918783		2203	4300	6503	SO:0001819	synonymous_variant	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1149C>A	12.37:g.21918783G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O00657	Silent	SNP	ENST00000240662.2	37	CCDS8692.1																																																																																				0.458	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1		NM_004982	
LAMB3	3914	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	209799337	209799337	+	Silent	SNP	C	C	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:209799337C>T	ENST00000356082.4	-	14	1766	c.1632G>A	c.(1630-1632)ccG>ccA	p.P544P	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000367030.3_Silent_p.P544P|LAMB3_ENST00000391911.1_Silent_p.P544P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	544	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.P544P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGTCGCAGCCCGGGCCCTCTG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											24.0	29.0	27.0					1																	209799337		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1632G>A	1.37:g.209799337C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	CCDS1487.1																																																																																				0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2		NM_000228	
LOC646214	646214	broad.mit.edu	37	15	21936872	21936872	+	IGR	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr15:21936872G>A								RP11-854K16.3 (601448 upstream) : RP11-32B5.7 (4274 downstream)																							TGACTTTAGGGCCATAAGCCT	0.512																																																	0																																										SO:0001628	intergenic_variant	646214																															15.37:g.21936872G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.512									
MMP20	9313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	102482517	102482517	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:102482517T>G	ENST00000260228.2	-	3	504	c.492A>C	c.(490-492)gaA>gaC	p.E164D	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	167					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E164D(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TAATATCCGCTTCTCCTGAGT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											70.0	69.0	70.0					11																	102482517		2203	4299	6502	SO:0001583	missense	9313			Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.492A>C	11.37:g.102482517T>G	ENSP00000260228:p.Glu164Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.519940	0.44866	.	.	ENSG00000137674	ENST00000260228	T	0.22539	1.95	5.35	4.22	0.49857	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.423937	0.30043	N	0.010557	T	0.12774	0.0310	N	0.12961	0.28	0.42879	D	0.994166	B	0.14012	0.009	B	0.22880	0.042	T	0.10109	-1.0644	10	0.25751	T	0.34	.	11.0715	0.48006	0.0:0.0733:0.0:0.9267	.	164	O60882	MMP20_HUMAN	D	164	ENSP00000260228:E164D	ENSP00000260228:E164D	E	-	3	2	MMP20	101987727	0.547000	0.26465	1.000000	0.80357	0.965000	0.64279	-0.213000	0.09305	1.042000	0.40150	0.533000	0.62120	GAA		0.453	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			
NAV1	89796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201687817	201687817	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:201687817C>A	ENST00000367296.4	+	3	1580	c.1160C>A	c.(1159-1161)tCc>tAc	p.S387Y	NAV1_ENST00000367297.4_Missense_Mutation_p.S387Y|NAV1_ENST00000367300.3_Missense_Mutation_p.S387Y|NAV1_ENST00000367302.1_Missense_Mutation_p.S400Y|MIR5191_ENST00000577455.1_RNA|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S387Y	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	387					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S387Y(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GACCTCAAGTCCGGCTACATG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											126.0	114.0	118.0					1																	201687817		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1160C>A	1.37:g.201687817C>A	ENSP00000356265:p.Ser387Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210993	0.79240	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.58	5.58	0.84498	.	0.136380	0.50627	D	0.000110	T	0.52092	0.1713	L	0.53249	1.67	0.37343	D	0.910469	P	0.45212	0.853	P	0.51777	0.679	T	0.60209	-0.7308	10	0.87932	D	0	-20.3142	14.7457	0.69488	0.0:0.8554:0.1446:0.0	.	387	Q8NEY1-3	.	Y	400;387;387;387;387	ENSP00000356271:S400Y;ENSP00000356265:S387Y;ENSP00000295624:S387Y;ENSP00000356266:S387Y;ENSP00000356269:S387Y	ENSP00000295624:S387Y	S	+	2	0	NAV1	199954440	0.962000	0.33011	0.994000	0.49952	0.993000	0.82548	2.268000	0.43338	2.610000	0.88304	0.563000	0.77884	TCC		0.607	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443	
NCAPG2	54892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	158472689	158472689	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr7:158472689A>C	ENST00000409423.1	-	12	1281	c.1109T>G	c.(1108-1110)aTg>aGg	p.M370R	NCAPG2_ENST00000275830.10_Missense_Mutation_p.M162R|NCAPG2_ENST00000409339.3_Missense_Mutation_p.M370R|NCAPG2_ENST00000356309.3_Missense_Mutation_p.M370R|NCAPG2_ENST00000449727.2_Missense_Mutation_p.M370R	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	370					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.M370R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TTCACTATCCATTTCAATAGC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											151.0	143.0	145.0					7																	158472689		1908	4120	6028	SO:0001583	missense	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1109T>G	7.37:g.158472689A>C	ENSP00000386569:p.Met370Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.82|11.82	1.753420|1.753420	0.31046|0.31046	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000449727|ENST00000441982	T;T;T;T;T|.	0.31769|.	1.49;1.49;1.54;1.48;1.48|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.077587|.	0.85682|.	D|.	0.000000|.	T|T	0.60248|0.60248	0.2254|0.2254	L|L	0.47716|0.47716	1.5|1.5	0.46167|0.46167	D|D	0.998903|0.998903	D;D;D|.	0.64830|.	0.994;0.974;0.99|.	P;P;P|.	0.62382|.	0.901;0.601;0.798|.	T|T	0.58200|0.58200	-0.7678|-0.7678	10|5	0.21540|.	T|.	0.41|.	-44.2334|-44.2334	11.794|11.794	0.52088|0.52088	0.9326:0.0:0.0674:0.0|0.9326:0.0:0.0674:0.0	.|.	370;162;370|.	Q86XI2-2;E7EUH9;Q86XI2|.	.;.;CNDG2_HUMAN|.	R|G	370;370;162;370;370|172	ENSP00000348657:M370R;ENSP00000386569:M370R;ENSP00000275830:M162R;ENSP00000387007:M370R;ENSP00000388326:M370R|.	ENSP00000275830:M162R|.	M|W	-|-	2|1	0|0	NCAPG2|NCAPG2	158165450|158165450	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.070000|0.070000	0.16714|0.16714	4.468000|4.468000	0.60162|0.60162	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.393	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1		NM_017760	
OR52B4	143496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4388624	4388624	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:4388624A>G	ENST00000408920.2	-	1	992	c.902T>C	c.(901-903)aTc>aCc	p.I301T		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	301					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I301T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTTCCTGGATTTGCTTGGT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											62.0	61.0	61.0					11																	4388624		1871	4113	5984	SO:0001583	missense	143496			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.902T>C	11.37:g.4388624A>G	ENSP00000386160:p.Ile301Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	A	9.793	1.178397	0.21787	.	.	ENSG00000221996	ENST00000408920	T	0.39406	1.08	4.97	3.85	0.44370	.	0.000000	0.53938	D	0.000045	T	0.72120	0.3421	H	0.97611	4.04	0.23923	N	0.996455	D	0.69078	0.997	D	0.64687	0.928	T	0.68823	-0.5307	10	0.87932	D	0	.	9.5971	0.39580	0.9168:0.0:0.0832:0.0	.	301	Q8NGK2	O52B4_HUMAN	T	301	ENSP00000386160:I301T	ENSP00000386160:I301T	I	-	2	0	OR52B4	4345200	1.000000	0.71417	0.019000	0.16419	0.005000	0.04900	6.606000	0.74159	0.935000	0.37341	0.459000	0.35465	ATC		0.403	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3		NM_001005161	
OR5M8	219484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56258042	56258042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:56258042G>A	ENST00000327216.2	-	1	829	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q269*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATTTTACCCTGTTCAACAGAT	0.368																																																	1	Substitution - Nonsense(1)	kidney(1)											44.0	50.0	48.0					11																	56258042		2201	4295	6496	SO:0001587	stop_gained	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.805C>T	11.37:g.56258042G>A	ENSP00000323354:p.Gln269*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	7.570	0.666611	0.14710	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.26	2.13	0.27403	.	0.000000	0.36519	U	0.002558	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-15.1631	7.1433	0.25568	0.0:0.3271:0.4959:0.1769	.	.	.	.	X	269	.	ENSP00000323354:Q269X	Q	-	1	0	OR5M8	56014618	0.000000	0.05858	0.858000	0.33744	0.145000	0.21501	-0.405000	0.07196	0.894000	0.36317	0.567000	0.79289	CAG		0.368	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1		NM_001005282	
OR5M8	219484	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	56258050	56258050	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:56258050G>C	ENST00000327216.2	-	1	821	c.797C>G	c.(796-798)tCt>tGt	p.S266C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S266C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTGTTCAACAGATTCCTTTGA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											43.0	48.0	46.0					11																	56258050		2201	4295	6496	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.797C>G	11.37:g.56258050G>C	ENSP00000323354:p.Ser266Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	7.562	0.664920	0.14710	.	.	ENSG00000181371	ENST00000327216	T	0.00279	8.33	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38111	U	0.001820	T	0.00468	0.0015	M	0.91663	3.23	0.09310	N	1	B	0.21071	0.051	B	0.30029	0.11	T	0.18840	-1.0324	10	0.87932	D	0	-28.1087	14.6945	0.69110	0.0:0.0:1.0:0.0	.	266	Q8NGP6	OR5M8_HUMAN	C	266	ENSP00000323354:S266C	ENSP00000323354:S266C	S	-	2	0	OR5M8	56014626	0.004000	0.15560	0.891000	0.34965	0.128000	0.20619	1.076000	0.30729	2.104000	0.64026	0.567000	0.79289	TCT		0.378	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1		NM_001005282	
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57327329	57327329	+	Silent	SNP	T	T	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:57327329T>C	ENST00000326441.9	-	10	2844	c.2481A>G	c.(2479-2481)ggA>ggG	p.G827G	PEG3_ENST00000598410.1_Silent_p.G703G|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.G827G|PEG3_ENST00000593695.1_Silent_p.G701G|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	827					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G827G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTATTCCCTTCCTTCAGAGG	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											117.0	112.0	114.0					19																	57327329		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2481A>G	19.37:g.57327329T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			
PIWIL4	143689	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94308185	94308185	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:94308185G>C	ENST00000299001.6	+	3	398	c.187G>C	c.(187-189)Ggt>Cgt	p.G63R	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	63					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.G63R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATATCTTCTGGTGATGCTGG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											104.0	99.0	100.0					11																	94308185		2201	4298	6499	SO:0001583	missense	143689			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.187G>C	11.37:g.94308185G>C	ENSP00000299001:p.Gly63Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.669498	0.29693	.	.	ENSG00000134627	ENST00000299001	T	0.04758	3.56	4.6	2.74	0.32292	.	0.093784	0.44688	D	0.000421	T	0.12603	0.0306	M	0.66378	2.025	0.80722	D	1	D	0.57571	0.98	P	0.59595	0.86	T	0.03829	-1.1000	10	0.31617	T	0.26	-24.1606	8.4005	0.32583	0.0826:0.0:0.7632:0.1542	.	63	Q7Z3Z4	PIWL4_HUMAN	R	63	ENSP00000299001:G63R	ENSP00000299001:G63R	G	+	1	0	PIWIL4	93947833	1.000000	0.71417	0.032000	0.17829	0.003000	0.03518	2.581000	0.46077	0.573000	0.29400	-0.158000	0.13435	GGT		0.348	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1		NM_152431	
PKD2L2	27039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137230170	137230170	+	Silent	SNP	T	T	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr5:137230170T>G	ENST00000508883.1	+	4	422	c.396T>G	c.(394-396)cgT>cgG	p.R132R	PKD2L2_ENST00000508638.1_Silent_p.R132R|PKD2L2_ENST00000350250.4_Silent_p.R98R|PKD2L2_ENST00000502810.1_Silent_p.R132R|PKD2L2_ENST00000290431.5_Silent_p.R132R			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	132					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R132R(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGAGTTCGTCAACTAAAAG	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	113.0	114.0					5																	137230170		1854	4092	5946	SO:0001819	synonymous_variant	27039			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.396T>G	5.37:g.137230170T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37																																																																																					0.373	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1		NM_014386	
PROS1	5627	broad.mit.edu	37	3	93643109	93643109	+	Splice_Site	SNP	C	C	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr3:93643109C>A	ENST00000394236.3	-	3	551		c.e3-1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAAAATAATCCTAGAAAGAAG	0.244																																																	1	Unknown(1)	kidney(1)											31.0	33.0	32.0					3																	93643109		2182	4267	6449	SO:0001630	splice_region_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.235-1G>T	3.37:g.93643109C>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Splice_Site	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589784	0.66105	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9153	0.79512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROS1	95125799	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.787000	0.62432	2.416000	0.81992	0.549000	0.68633	.		0.244	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1		NM_000313	Intron
PRSS36	146547	broad.mit.edu;hgsc.bcm.edu	37	16	31160816	31160816	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr16:31160816A>G	ENST00000268281.4	-	3	135	c.77T>C	c.(76-78)cTc>cCc	p.L26P	PRSS36_ENST00000418068.2_Missense_Mutation_p.L26P|PRSS36_ENST00000569305.1_Missense_Mutation_p.L26P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	26						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.L26P(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGTAGGACTGAGAGCTGGGAG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											73.0	68.0	70.0					16																	31160816		2197	4300	6497	SO:0001583	missense	146547			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.77T>C	16.37:g.31160816A>G	ENSP00000268281:p.Leu26Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010378	0.35511	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.82167	-1.58;-1.58	4.87	2.61	0.31194	.	.	.	.	.	T	0.66056	0.2751	N	0.12182	0.205	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.51687	-0.8674	9	0.30078	T	0.28	.	6.6914	0.23174	0.8061:0.0:0.1939:0.0	.	26;26;26	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	26	ENSP00000268281:L26P;ENSP00000407160:L26P	ENSP00000268281:L26P	L	-	2	0	PRSS36	31068317	0.000000	0.05858	0.001000	0.08648	0.553000	0.35397	0.044000	0.13992	0.308000	0.22923	0.366000	0.22137	CTC		0.592	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1		NM_173502	
PTPN13	5783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87692395	87692395	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:87692395G>C	ENST00000411767.2	+	31	4938	c.4875G>C	c.(4873-4875)gaG>gaC	p.E1625D	PTPN13_ENST00000427191.2_Missense_Mutation_p.E1606D|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1434D|PTPN13_ENST00000436978.1_Missense_Mutation_p.E1630D|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1630D			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1625			E -> K (in dbSNP:rs12500797).		peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E1630D(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGTGTGGAGCAAAGCACCA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											33.0	32.0	32.0					4																	87692395		1981	4167	6148	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4875G>C	4.37:g.87692395G>C	ENSP00000407249:p.Glu1625Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662043	0.14645	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.50548	0.74;0.77;0.83;0.74;0.77	5.32	2.49	0.30216	.	0.134693	0.33217	N	0.005151	T	0.29556	0.0737	L	0.38531	1.155	0.29629	N	0.845573	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.005;0.002;0.005	T	0.13072	-1.0523	10	0.15499	T	0.54	.	4.1206	0.10104	0.2584:0.0:0.4913:0.2503	.	1434;1606;1625;1630	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	D	1606;1630;1434;1625;1630;1574	ENSP00000408368:E1606D;ENSP00000394794:E1630D;ENSP00000322675:E1434D;ENSP00000407249:E1625D;ENSP00000426626:E1630D	ENSP00000322675:E1434D	E	+	3	2	PTPN13	87911419	0.993000	0.37304	0.998000	0.56505	0.855000	0.48748	0.412000	0.21131	0.741000	0.32674	0.655000	0.94253	GAG		0.443	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			
RAN	5901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	131357432	131357432	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr12:131357432C>T	ENST00000543796.1	+	3	346	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	RAN_ENST00000392367.3_Missense_Mutation_p.H30Y|RAN_ENST00000392369.2_Missense_Mutation_p.H30Y|RAN_ENST00000541630.1_5'UTR|RAN_ENST00000254675.3_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	30					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.H30Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		CGTGAAACGTCATTTGACTGG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											340.0	325.0	330.0					12																	131357432		2203	4300	6503	SO:0001583	missense	5901			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.88C>T	12.37:g.131357432C>T	ENSP00000446215:p.His30Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	ENST00000543796.1	37	CCDS9271.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789647	0.50102	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	3.72	3.72	0.42706	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	N	0.13140	0.3	0.80722	D	1	B;B	0.32350	0.366;0.366	B;B	0.30179	0.112;0.112	T	0.61802	-0.6988	10	0.66056	D	0.02	-14.7063	14.8201	0.70065	0.0:1.0:0.0:0.0	.	30;30	A8K3Z8;P62826	.;RAN_HUMAN	Y	30;48;30;26;30	ENSP00000446215:H30Y;ENSP00000396127:H48Y;ENSP00000376176:H30Y;ENSP00000444042:H26Y;ENSP00000376174:H30Y	ENSP00000376174:H30Y	H	+	1	0	RAN	129923385	1.000000	0.71417	0.056000	0.19401	0.219000	0.24729	6.785000	0.75089	1.792000	0.52537	0.511000	0.50034	CAT		0.403	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2		NM_006325	
RPS3	6188	broad.mit.edu;hgsc.bcm.edu	37	11	75113456	75113456	+	Missense_Mutation	SNP	C	C	T	rs528039603		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:75113456C>T	ENST00000531188.1	+	4	378	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	SNORD15A_ENST00000384214.1_RNA|RPS3_ENST00000530164.1_Missense_Mutation_p.R106C|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.R106C|RPS3_ENST00000278572.6_Missense_Mutation_p.R122C|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000527446.1_Missense_Mutation_p.R106C|RPS3_ENST00000526608.1_Missense_Mutation_p.R94C	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	106					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.R106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						AGAGTCTCTGCGTTACAAACT	0.473													c|||	1	0.000199681	0.0008	0.0	5008	,	,		21714	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											113.0	106.0	108.0					11																	75113456		2200	4293	6493	SO:0001583	missense	6188				CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.316C>T	11.37:g.75113456C>T	ENSP00000434643:p.Arg106Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497806|4.497806	0.85069|0.85069	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000527273|ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851	.|.	.|.	.|.	5.17|5.17	4.26|4.26	0.50523|0.50523	.|K Homology (1);Ribosomal protein S3, C-terminal (3);	.|0.046705	.|0.85682	.|D	.|0.000000	T|T	0.77294|0.77294	0.4109|0.4109	M|M	0.92367|0.92367	3.3|3.3	0.80722|0.80722	D|D	1|1	.|B	.|0.30914	.|0.3	.|B	.|0.38378	.|0.272	T|T	0.80538|0.80538	-0.1338|-0.1338	6|9	0.51188|0.66056	T|D	0.08|0.02	-0.3795|-0.3795	13.6035|13.6035	0.62033|0.62033	0.0:0.8434:0.1566:0.0|0.0:0.8434:0.1566:0.0	.|.	.|106	.|P23396	.|RS3_HUMAN	V|C	87|106;106;106;122;106;94;106	.|.	ENSP00000435457:A87V|ENSP00000278572:R122C	A|R	+|+	2|1	0|0	RPS3|RPS3	74791104|74791104	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	5.919000|5.919000	0.70005|0.70005	1.404000|1.404000	0.46819|0.46819	-0.165000|-0.165000	0.13383|0.13383	GCG|CGT		0.473	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2		NM_001005	
SDC1	6382	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20403634	20403634	+	Silent	SNP	C	C	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:20403634C>T	ENST00000254351.4	-	3	811	c.567G>A	c.(565-567)gaG>gaA	p.E189E	SDC1_ENST00000482879.1_Intron|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000381150.1_Silent_p.E189E	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	189					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)	p.E189E(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CAGCAGCCCTCTCGGTGGCAG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	74.0	75.0					2																	20403634		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.567G>A	2.37:g.20403634C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	CCDS1697.1																																																																																				0.612	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1		NM_001006946	
SFRP4	6424	hgsc.bcm.edu	37	7	37947147	37947148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr7:37947147_37947148insG	ENST00000436072.2	-	6	1351_1352	c.974_975insC	c.(973-975)ccafs	p.P325fs	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	325					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGGACTGGCTGGTTTGGGAGC	0.505																																																	0																																										SO:0001589	frameshift_variant	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.975dupC	7.37:g.37947149_37947149dupG	ENSP00000410715:p.Pro325fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Frame_Shift_Ins	INS	ENST00000436072.2	37	CCDS5453.1																																																																																				0.505	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2		NM_003014	
SLC17A6	57084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22397548	22397548	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr11:22397548C>G	ENST00000263160.3	+	10	1632	c.1195C>G	c.(1195-1197)Ctg>Gtg	p.L399V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	399					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.L399V(1)|p.L399M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGAAGCCACACTGCTCCTGGT	0.388																																																	2	Substitution - Missense(2)	ovary(1)|kidney(1)											161.0	165.0	164.0					11																	22397548		2203	4300	6503	SO:0001583	missense	57084			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1195C>G	11.37:g.22397548C>G	ENSP00000263160:p.Leu399Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966593	0.53507	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58797	0.31	6.17	-0.244	0.13031	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.64170	1.965	0.46149	D	0.99889	B	0.23540	0.087	B	0.30572	0.117	T	0.51624	-0.8682	10	0.52906	T	0.07	.	11.0429	0.47842	0.0:0.6473:0.0:0.3527	.	399	Q9P2U8	VGLU2_HUMAN	V	399;287	ENSP00000263160:L399V	ENSP00000263160:L399V	L	+	1	2	SLC17A6	22354124	0.039000	0.19947	0.149000	0.22428	0.845000	0.48019	0.510000	0.22723	-0.050000	0.13356	-0.140000	0.14226	CTG		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1		NM_020346	
SLC30A2	7780	broad.mit.edu;hgsc.bcm.edu	37	1	26370857	26370857	+	Intron	SNP	C	C	G			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr1:26370857C>G	ENST00000374278.3	-	2	488				SLC30A2_ENST00000374276.3_Missense_Mutation_p.S117T|SLC30A2_ENST00000498060.1_5'UTR	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2						positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)	p.S117T(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAGAGGCTGATGAGCAT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											92.0	75.0	81.0					1																	26370857		2203	4300	6503	SO:0001627	intron_variant	7780			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.271+630G>C	1.37:g.26370857C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	CCDS272.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584020	0.86748	.	.	ENSG00000158014	ENST00000374276	T	0.63096	-0.02	5.72	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.78553	0.4301	M	0.77313	2.365	0.58432	D	0.999999	D	0.76494	0.999	D	0.72075	0.976	T	0.80600	-0.1310	10	0.52906	T	0.07	-21.0455	14.7854	0.69800	0.1456:0.8544:0.0:0.0	.	117	Q9BRI3-2	.	T	117	ENSP00000363394:S117T	ENSP00000363394:S117T	S	-	2	0	SLC30A2	26243444	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	1.369000	0.46134	0.655000	0.94253	AGC		0.587	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1		NM_032513	
SLC4A1	6521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42338113	42338113	+	Missense_Mutation	SNP	C	C	T	rs372860708		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:42338113C>T	ENST00000262418.6	-	5	394	c.239G>A	c.(238-240)cGc>cAc	p.R80H	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	80	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R80H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCACCCAGCGCGCCGCCTC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											67.0	63.0	64.0					17																	42338113		2203	4300	6503	SO:0001583	missense	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.239G>A	17.37:g.42338113C>T	ENSP00000262418:p.Arg80His	Somatic		WXS	Illumina HiSeq	Phase_I	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.282679	0.40394	.	.	ENSG00000004939	ENST00000262418	D	0.85773	-2.03	5.51	-9.83	0.00482	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.327353	0.32314	N	0.006266	T	0.81143	0.4761	L	0.49455	1.56	0.44067	D	0.996811	B;D	0.67145	0.179;0.996	B;P	0.53988	0.033;0.739	D	0.86023	0.1508	10	0.51188	T	0.08	.	11.0118	0.47667	0.0893:0.2239:0.0:0.6868	.	80;80	E2RVJ0;P02730	.;B3AT_HUMAN	H	80	ENSP00000262418:R80H	ENSP00000262418:R80H	R	-	2	0	SLC4A1	39693639	0.848000	0.29623	0.027000	0.17364	0.197000	0.23852	-0.028000	0.12350	-1.676000	0.01457	-1.165000	0.01757	CGC		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1		NM_000342	
SLIT2	9353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	20550708	20550708	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr4:20550708A>C	ENST00000504154.1	+	24	2698	c.2446A>C	c.(2446-2448)Att>Ctt	p.I816L	SLIT2_ENST00000273739.5_Missense_Mutation_p.I820L|SLIT2_ENST00000503837.1_Missense_Mutation_p.I812L|SLIT2_ENST00000503823.1_Missense_Mutation_p.I808L|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	816					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.I816L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTGAGATGTATTCCTCCTCG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											132.0	122.0	125.0					4																	20550708		2202	4299	6501	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2446A>C	4.37:g.20550708A>C	ENSP00000422591:p.Ile816Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636708	0.67130	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.77	3.26	0.37387	.	0.043953	0.85682	N	0.000000	T	0.56920	0.2018	N	0.17312	0.475	0.58432	D	0.999997	B;B	0.30824	0.064;0.296	B;P	0.60345	0.267;0.873	T	0.50118	-0.8865	10	0.15952	T	0.53	.	12.978	0.58547	0.7447:0.2552:0.0:0.0	.	808;816	O94813-3;O94813	.;SLIT2_HUMAN	L	808;816;820;812;812;17	ENSP00000427548:I808L;ENSP00000422591:I816L;ENSP00000273739:I820L;ENSP00000422261:I812L;ENSP00000421975:I17L	ENSP00000273739:I820L	I	+	1	0	SLIT2	20159806	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.439000	0.59968	0.506000	0.28125	-0.446000	0.05623	ATT		0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			
TERT	7015	broad.mit.edu;hgsc.bcm.edu	37	5	1294723	1294723	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr5:1294723G>A	ENST00000310581.5	-	2	335	c.278C>T	c.(277-279)gCg>gTg	p.A93V	TERT_ENST00000508104.2_Missense_Mutation_p.A93V|TERT_ENST00000296820.5_Missense_Mutation_p.A93V|TERT_ENST00000522877.1_5'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.A93V	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	93	GQ motif.|RNA-interacting domain 1.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.A93V(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CACGTTCTTCGCGCCGCGCTC	0.726									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								2	Substitution - Missense(2)	kidney(2)											7.0	8.0	8.0					5																	1294723		2005	4090	6095	SO:0001583	missense	7015	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.278C>T	5.37:g.1294723G>A	ENSP00000309572:p.Ala93Val	Somatic		WXS	Illumina HiSeq	Phase_I	O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741876	0.49151	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	3.59	0.994	0.19832	.	0.479797	0.21632	N	0.071478	D	0.88592	0.6478	L	0.36672	1.1	0.23645	N	0.99722	D;D;D	0.69078	0.989;0.981;0.997	P;B;P	0.50378	0.581;0.377;0.639	T	0.80808	-0.1217	10	0.38643	T	0.18	-18.4864	9.0209	0.36200	0.0:0.0:0.3333:0.6667	.	93;93;93	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	V	93	ENSP00000309572:A93V;ENSP00000296820:A93V;ENSP00000334346:A93V;ENSP00000426042:A93V	ENSP00000296820:A93V	A	-	2	0	TERT	1347723	0.002000	0.14202	0.863000	0.33907	0.752000	0.42762	0.573000	0.23699	0.554000	0.29061	0.462000	0.41574	GCG		0.726	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			
THSD1	55901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52952408	52952408	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr13:52952408G>A	ENST00000258613.4	-	5	1875	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	THSD1_ENST00000349258.4_Missense_Mutation_p.A513V|THSD1_ENST00000544466.1_Missense_Mutation_p.A187V	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	566					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A566V(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GCTGGGGGCCGCATCAATGGC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											84.0	89.0	87.0					13																	52952408		2203	4300	6503	SO:0001583	missense	55901			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1697C>T	13.37:g.52952408G>A	ENSP00000258613:p.Ala566Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885124	0.17540	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.35048	2.05;1.33;2.22	5.37	4.48	0.54585	.	0.571148	0.18269	N	0.146362	T	0.39835	0.1093	M	0.64997	1.995	0.09310	N	1	P;P	0.46859	0.854;0.885	B;B	0.41440	0.285;0.357	T	0.44997	-0.9291	10	0.87932	D	0	-5.7466	15.7149	0.77661	0.0:0.2303:0.7697:0.0	.	513;566	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	V	513;187;566	ENSP00000340650:A513V;ENSP00000438512:A187V;ENSP00000258613:A566V	ENSP00000258613:A566V	A	-	2	0	THSD1	51850409	0.986000	0.35501	0.048000	0.18961	0.012000	0.07955	2.803000	0.47924	2.513000	0.84729	0.650000	0.86243	GCG		0.542	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			
TPO	7173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1499872	1499872	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr2:1499872G>A	ENST00000345913.4	+	12	2209	c.2118G>A	c.(2116-2118)atG>atA	p.M706I	TPO_ENST00000349624.3_Missense_Mutation_p.M533I|TPO_ENST00000329066.4_Missense_Mutation_p.M706I|TPO_ENST00000382201.3_Missense_Mutation_p.M649I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.M533I|TPO_ENST00000337415.3_Missense_Mutation_p.M706I|TPO_ENST00000346956.3_Missense_Mutation_p.M706I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	706			M -> V (in dbSNP:rs13431173).		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.M706I(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGTGCCCATGGATGCCTTCC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											69.0	64.0	66.0					2																	1499872		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2118G>A	2.37:g.1499872G>A	ENSP00000318820:p.Met706Ile	Somatic		WXS	Illumina HiSeq	Phase_I	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.748|2.748	-0.260800|-0.260800	0.05791|0.05791	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607|ENST00000446278	T;T;T;T;T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31|.	4.52|4.52	-8.77|-8.77	0.00827|0.00827	.|.	3.908730|.	0.00357|.	N|.	0.000035|.	T|.	0.09818|.	0.0241|.	N|N	0.00621|0.00621	-1.32|-1.32	0.58432|0.58432	D|D	0.999992|0.999992	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|.	0.27468|.	-1.0073|.	10|.	0.26408|.	T|.	0.33|.	3.0E-4|3.0E-4	2.1807|2.1807	0.03874|0.03874	0.1765:0.1778:0.3898:0.2559|0.1765:0.1778:0.3898:0.2559	.|.	706;533;649;706|.	P07202-4;P07202-5;P07202-2;P07202|.	.;.;.;PERT_HUMAN|.	I|X	706;706;706;533;706;649;533;635;180|181	ENSP00000337263:M706I;ENSP00000318820:M706I;ENSP00000263886:M706I;ENSP00000332044:M533I;ENSP00000329869:M706I;ENSP00000371636:M649I;ENSP00000371633:M533I;ENSP00000405788:M635I;ENSP00000419461:M180I|.	ENSP00000329869:M706I|.	M|W	+|+	3|2	0|0	TPO|TPO	1478879|1478879	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-3.481000|-3.481000	0.00456|0.00456	-2.172000|-2.172000	0.00774|0.00774	-0.270000|-0.270000	0.10280|0.10280	ATG|TGG		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547	
TUBB	203068	broad.mit.edu;hgsc.bcm.edu	37	6	30692126	30692126	+	Silent	SNP	C	C	A	rs146810731		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr6:30692126C>A	ENST00000327892.8	+	4	1593	c.1287C>A	c.(1285-1287)acC>acA	p.T429T	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Silent_p.T357T|TUBB_ENST00000435534.1_Silent_p.T228T|TUBB_ENST00000330914.3_Silent_p.T357T|TUBB_ENST00000396389.1_Silent_p.T411T	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	429					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T429T(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGATGCCACCGCAGAAGAGG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	41.0	43.0					6																	30692126		2202	4298	6500	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.1287C>A	6.37:g.30692126C>A		Somatic		WXS	Illumina HiSeq	Phase_I	P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	CCDS4687.1																																																																																				0.572	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2		NM_178014	
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183763	10183763	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr3:10183763A>T	ENST00000256474.2	+	1	1072	c.232A>T	c.(232-234)Aat>Tat	p.N78Y	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.N78Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	78			N -> H (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|N -> S (in VHLD; type I; common mutation; dbSNP:rs5030804). {ECO:0000269|PubMed:8956040}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N78D(3)|p.F76fs*80(2)|p.F76fs*81(2)|p.N78Y(2)|p.N78H(2)|p.S72_V87>L(1)|p.C77_N78>Y(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.C77fs*53(1)|p.V74fs*77(1)|p.N78fs*54(1)|p.C77_R79del(1)|p.N78fs*53(1)|p.C77*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CATCTTCTGCAATCGCAGTCC	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	21	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - frameshift(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(19)|soft_tissue(2)	GRCh37	CM941365	VHL	M							12.0	15.0	14.0					3																	10183763		2175	4240	6415	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.232A>T	3.37:g.10183763A>T	ENSP00000256474:p.Asn78Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	33	5.203176	0.95033	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99960	-9.2;-9.2	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.043720	0.85682	D	0.000000	D	0.99955	0.9981	M	0.84773	2.715	0.46774	D	0.999198	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	D	0.94777	0.7950	10	0.87932	D	0	-4.0134	13.5016	0.61459	1.0:0.0:0.0:0.0	.	78;78	P40337-2;P40337	.;VHL_HUMAN	Y	78	ENSP00000256474:N78Y;ENSP00000344757:N78Y	ENSP00000256474:N78Y	N	+	1	0	VHL	10158763	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.728000	0.68531	2.069000	0.61940	0.450000	0.29827	AAT		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR81	124997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1633775	1633775	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr17:1633775T>C	ENST00000409644.1	+	2	3769	c.3769T>C	c.(3769-3771)Tat>Cat	p.Y1257H	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.Y30H|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.Y54H|WDR81_ENST00000545662.1_5'UTR|WDR81_ENST00000309182.5_Missense_Mutation_p.Y206H	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1257					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.Y206H(1)|p.Y1257H(1)|p.Y54H(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACGTCTTGTTATGTTGGTAA	0.642																																																	3	Substitution - Missense(3)	kidney(3)											37.0	34.0	35.0					17																	1633775		2203	4297	6500	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3769T>C	17.37:g.1633775T>C	ENSP00000386609:p.Tyr1257His	Somatic		WXS	Illumina HiSeq	Phase_I	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	T	32	5.169662	0.94768	.	.	ENSG00000167716	ENST00000455636;ENST00000437219;ENST00000309182;ENST00000419248;ENST00000409644	T;T;T;T;T	0.44482	2.09;2.09;2.09;0.92;2.09	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.975;0.996;0.994	T	0.69851	-0.5033	10	0.87932	D	0	.	15.5549	0.76184	0.0:0.0:0.0:1.0	.	54;384;206	B7Z579;Q8TEL1;Q562E7	.;.;WDR81_HUMAN	H	54;54;206;30;1257	ENSP00000395226:Y54H;ENSP00000391074:Y54H;ENSP00000312074:Y206H;ENSP00000407845:Y30H;ENSP00000386609:Y1257H	ENSP00000312074:Y206H	Y	+	1	0	WDR81	1580525	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.686000	0.84128	2.082000	0.62665	0.450000	0.29827	TAT		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2		NM_152348	
ZAN	7455	hgsc.bcm.edu	37	7	100371476	100371477	+	RNA	INS	-	-	G	rs148800656|rs200325383|rs372381708	byFrequency	TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr7:100371476_100371477insG	ENST00000348028.3	+	0	5932_5933				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTCCGTTTCGGGCCTCAG	0.624													G|-|G|deletion	2230	0.445288	0.2133	0.5418	5008	,	,		17915	0.7867		0.3419	False		,,,				2504	0.4448																1	Unknown(1)	upper_aerodigestive_tract(1)							,	906,2950		139,628,1161					,	4.6	0.9		dbSNP_134	33	2934,5018		557,1820,1599	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	696,2448,2760	A1A1,A1R,RR		36.8964,23.4959,32.5203	,	,		3840,7968						7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100371476_100371477insG		Somatic		WXS	Illumina HiSeq	Phase_I	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Ins	INS	ENST00000348028.3	37																																																																																					0.624	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386	
ZNF564	163050	hgsc.bcm.edu;ucsc.edu	37	19	12637642	12637643	+	Frame_Shift_Ins	INS	-	-	CA	rs370399489		TCGA-BP-5009-01A-01D-1462-08	TCGA-BP-5009-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3baa3cdc-c63e-4556-baf1-c3b03175b0fa	898e7605-5dd0-48b9-9fbc-0fc073d4a49c	g.chr19:12637642_12637643insCA	ENST00000339282.7	-	4	1475_1476	c.1279_1280insTG	c.(1279-1281)gggfs	p.G427fs	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GAAGGCTTTCCCACATACCTGA	0.396																																																	0																																										SO:0001589	frameshift_variant	163050			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1278_1279dupTG	19.37:g.12637645_12637646dupCA	ENSP00000340004:p.Gly427fs	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGT4|Q6P1K6	Frame_Shift_Ins	INS	ENST00000339282.7	37	CCDS42505.1																																																																																				0.396	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2		NM_144976	
