#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_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_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_refseq_mrna_id	i_secondary_variant_classification	i_type
BAI2	576	broad.mit.edu	37	1	32207319	32207319	+	Missense_Mutation	SNP	A	A	C			TCGA-13-1487-01	TCGA-13-1487-10			A	C	A	A	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr1:32207319A>C	ENST00000373658.3	-	10	1934	c.1593T>G	c.(1591-1593)caT>caG	p.H531Q	BAI2_ENST00000398547.1_Missense_Mutation_p.H464Q|BAI2_ENST00000257070.4_Missense_Mutation_p.H531Q|BAI2_ENST00000527361.1_Missense_Mutation_p.H531Q|BAI2_ENST00000398538.1_Missense_Mutation_p.H519Q|BAI2_ENST00000373655.2_Missense_Mutation_p.H531Q|BAI2_ENST00000440175.2_Missense_Mutation_p.H173Q|BAI2_ENST00000398542.1_Missense_Mutation_p.H464Q|BAI2_ENST00000398556.3_Missense_Mutation_p.H479Q	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	531					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H531Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGCACATCTCATGGAAGGCTG	0.582																																																1	Substitution - Missense(1)	ovary(1)	1											110.0	99.0	103.0					1																	32207319		2203	4300	6503	31979906	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1593T>G	1.37:g.32207319A>C	ENSP00000362762:p.His531Gln		31979906	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	CCDS346.2	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142926	0.57044	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.43688	1.65;1.83;0.99;0.99;2.01;0.94;0.94;1.67;1.02;1.61	5.15	-2.75	0.05914	GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.42294	D	0.000728	T	0.53916	0.1826	L	0.55990	1.75	0.38223	D	0.940822	D;D;D;D;D;D;D	0.76494	0.999;0.978;0.999;0.996;0.999;0.978;0.999	D;D;D;D;D;D;D	0.75020	0.985;0.915;0.974;0.959;0.972;0.915;0.942	T	0.56854	-0.7910	10	0.87932	D	0	.	14.1079	0.65104	0.4886:0.0:0.5114:0.0	.	464;531;519;173;464;531;531	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	Q	479;464;531;531;464;531;531;173;519;469	ENSP00000381564:H479Q;ENSP00000381555:H464Q;ENSP00000362762:H531Q;ENSP00000362759:H531Q;ENSP00000381550:H464Q;ENSP00000257070:H531Q;ENSP00000435397:H531Q;ENSP00000391071:H173Q;ENSP00000381548:H519Q;ENSP00000410921:H469Q	ENSP00000257070:H531Q	H	-	3	2	BAI2	31979906	0.021000	0.18746	0.969000	0.41365	0.959000	0.62525	-0.511000	0.06321	-0.785000	0.04522	-1.447000	0.01057	CAT		0.582	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		Missense_Mutation
SGIP1	84251	broad.mit.edu	37	1	67147567	67147567	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1487-01	TCGA-13-1487-10			C	A	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr1:67147567C>A	ENST00000371037.4	+	15	907	c.830C>A	c.(829-831)gCc>gAc	p.A277D	SGIP1_ENST00000237247.6_Missense_Mutation_p.A281D|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	277	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.A277D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACCAGTCAGCCACAGAGGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	1											96.0	96.0	96.0					1																	67147567		2203	4300	6503	66920155	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.830C>A	1.37:g.67147567C>A	ENSP00000360076:p.Ala277Asp		66920155	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713034	0.48517	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03094	4.05;4.05	5.45	5.45	0.79879	.	0.263211	0.36591	N	0.002507	T	0.01765	0.0056	L	0.29908	0.895	0.80722	D	1	B;B	0.28713	0.22;0.041	B;B	0.28139	0.086;0.037	T	0.55698	-0.8100	10	0.38643	T	0.18	-15.2366	14.4956	0.67685	0.1467:0.8532:0.0:0.0	.	280;277	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	D	281;280;280;277	ENSP00000237247:A281D;ENSP00000360076:A277D	ENSP00000237247:A281D	A	+	2	0	SGIP1	66920155	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.278000	0.33179	2.708000	0.92522	0.650000	0.86243	GCC		0.403	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		Missense_Mutation
RORC	6097	broad.mit.edu	37	1	151785423	151785423	+	Splice_Site	SNP	G	G	A	rs202038919		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr1:151785423G>A	ENST00000318247.6	-	9	1392	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	RORC_ENST00000356728.6_Splice_Site_p.H408Y|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Splice_Site_p.H483Y	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	429	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.H429Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAACACTCACGGGCATTGATG	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											74.0	66.0	69.0					1																	151785423		2203	4300	6503	150052047	SO:0001630	splice_region_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1285+1C>T	1.37:g.151785423G>A			150052047	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911793	0.33721	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.95069	-3.6;-3.6;-3.6	4.78	1.04	0.20106	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.458599	0.20794	N	0.085578	T	0.70116	0.3187	N	0.08118	0	0.26351	N	0.977207	B;B;B;B	0.20164	0.002;0.042;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.64339	-0.6431	9	.	.	.	.	6.5397	0.22372	0.2687:0.0:0.1416:0.5897	.	417;483;429;408	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Y	408;483;429	ENSP00000349164:H408Y;ENSP00000376461:H483Y;ENSP00000327025:H429Y	.	H	-	1	0	RORC	150052047	0.981000	0.34729	0.999000	0.59377	0.779000	0.44077	0.155000	0.16362	-0.019000	0.14055	-1.006000	0.02489	CAT		0.498	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		Missense_Mutation	Missense_Mutation
PEAR1	375033	broad.mit.edu	37	1	156882745	156882745	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr1:156882745G>A	ENST00000338302.3	+	19	2618	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	PEAR1_ENST00000292357.7_Missense_Mutation_p.R798H			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	798					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R798H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCAGCGGGCGCCTGGACGGC	0.617																																																1	Substitution - Missense(1)	ovary(1)	1											62.0	62.0	62.0					1																	156882745		2203	4300	6503	155149369	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2393G>A	1.37:g.156882745G>A	ENSP00000344465:p.Arg798His		155149369	Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	CCDS30892.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579755	0.46006	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.90261	-2.64;-2.64	5.23	3.1	0.35709	.	0.419192	0.17965	N	0.156045	D	0.86276	0.5894	M	0.73962	2.25	0.36615	D	0.875433	D	0.76494	0.999	P	0.50791	0.65	D	0.83458	0.0052	10	0.45353	T	0.12	.	3.5833	0.07962	0.2366:0.0:0.5764:0.187	.	798	Q5VY43	PEAR1_HUMAN	H	798	ENSP00000344465:R798H;ENSP00000292357:R798H	ENSP00000292357:R798H	R	+	2	0	PEAR1	155149369	0.297000	0.24408	0.118000	0.21660	0.045000	0.14185	1.085000	0.30840	0.590000	0.29694	0.563000	0.77884	CGC		0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		Missense_Mutation
CCSER2	54462	broad.mit.edu	37	10	86131416	86131416	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr10:86131416T>C	ENST00000224756.8	+	2	793	c.608T>C	c.(607-609)tTa>tCa	p.L203S	CCSER2_ENST00000372088.2_Missense_Mutation_p.L203S|CCSER2_ENST00000359979.4_Missense_Mutation_p.L203S	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	203					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.L203S(1)									GGAGAAAGCTTAGCTCAATCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	10											59.0	63.0	62.0					10																	86131416		2203	4300	6503	86121396	SO:0001583	missense	54462				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.608T>C	10.37:g.86131416T>C	ENSP00000224756:p.Leu203Ser		86121396	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	CCDS31235.1	SNP	61	Broad	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707027	0.68615	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.64991	-0.13;1.25;1.16	6.11	6.11	0.99139	.	0.000000	0.56097	D	0.000038	T	0.76863	0.4047	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.988;0.999	T	0.78708	-0.2099	10	0.72032	D	0.01	-12.4573	14.6542	0.68820	0.0:0.0:0.0:1.0	.	203;203;203	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	S	203	ENSP00000353068:L203S;ENSP00000224756:L203S;ENSP00000361160:L203S	ENSP00000224756:L203S	L	+	2	0	FAM190B	86121396	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.299000	0.78831	2.343000	0.79666	0.533000	0.62120	TTA		0.408	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		Missense_Mutation
COL17A1	1308	broad.mit.edu	37	10	105837231	105837231	+	Silent	SNP	G	G	T	rs371548263		TCGA-13-1487-01	TCGA-13-1487-10			G	T	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr10:105837231G>T	ENST00000353479.5	-	4	441	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	COL17A1_ENST00000393211.3_Silent_p.R51R|COL17A1_ENST00000369733.3_Silent_p.R51R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	51	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R51R(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCTCCAGCCGGCTCCCTCCA	0.532																																																1	Substitution - coding silent(1)	ovary(1)	10											67.0	59.0	62.0					10																	105837231		2203	4300	6503	105827221	SO:0001819	synonymous_variant	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.151C>A	10.37:g.105837231G>T			105827221	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	CCDS7554.1	SNP	39	Broad																																																																																				0.532	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		Silent
MKI67	4288	broad.mit.edu	37	10	129907445	129907445	+	Silent	SNP	G	G	A			TCGA-13-1487-01	TCGA-13-1487-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr10:129907445G>A	ENST00000368654.3	-	13	3034	c.2659C>T	c.(2659-2661)Cta>Tta	p.L887L	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.L527L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	887					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.L887L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCACAGGTAGCTTCTGTATA	0.408																																																1	Substitution - coding silent(1)	ovary(1)	10											228.0	215.0	220.0					10																	129907445		2203	4300	6503	129797435	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2659C>T	10.37:g.129907445G>A			129797435	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1	SNP	34	Broad																																																																																				0.408	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		Silent
ANO3	63982	broad.mit.edu	37	11	26681991	26681991	+	Silent	SNP	G	G	A			TCGA-13-1487-01	TCGA-13-1487-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr11:26681991G>A	ENST00000256737.3	+	27	3798	c.2946G>A	c.(2944-2946)taG>taA	p.*982*	ANO3_ENST00000537978.1_Silent_p.*966*|ANO3_ENST00000531568.1_Silent_p.*836*|ANO3_ENST00000525139.1_Silent_p.*966*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	0					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.*982*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGCCTTAGTTGACACCTG	0.413																																																1	Substitution - coding silent(1)	ovary(1)	11											99.0	98.0	98.0					11																	26681991		2203	4299	6502	26638567	SO:0001819	synonymous_variant	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2946G>A	11.37:g.26681991G>A			26638567	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1	SNP	36	Broad																																																																																				0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		Silent
CARD17	440068	broad.mit.edu	37	11	104972138	104972138	+	Missense_Mutation	SNP	C	C	G	rs553449901		TCGA-13-1487-01	TCGA-13-1487-10			C	G	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr11:104972138C>G	ENST00000375707.1	-	1	20	c.4G>C	c.(4-6)Gcc>Ccc	p.A2P	CASP1_ENST00000594519.1_Missense_Mutation_p.A2P|CARD16_ENST00000525374.1_Missense_Mutation_p.A2P|CASP1_ENST00000598974.1_Missense_Mutation_p.A2P|CASP1_ENST00000593315.1_Missense_Mutation_p.A2P|CASP1_ENST00000415981.2_Missense_Mutation_p.A2P	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	2	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.A2P(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						GACTCACCGGCCATGGCTTTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	11											167.0	163.0	164.0					11																	104972138		2202	4299	6501	104477348	SO:0001583	missense	440068				CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.4G>C	11.37:g.104972138C>G	ENSP00000364859:p.Ala2Pro		104477348		Missense_Mutation	SNP	ENST00000375707.1	37	CCDS31662.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	.	16.18	3.051361	0.55218	.	.	ENSG00000137752;ENSG00000204397;ENSG00000255221	ENST00000415981;ENST00000525374;ENST00000375707	T;T;T	0.29397	1.57;2.04;1.77	2.8	2.8	0.32819	DEATH-like (2);Caspase Recruitment (2);	0.792060	0.11479	N	0.559919	T	0.43166	0.1235	L	0.37850	1.14	0.24767	N	0.99289	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.87578	0.988;0.998;0.919	T	0.16041	-1.0416	10	0.87932	D	0	.	9.1471	0.36939	0.0:1.0:0.0:0.0	.	2;2;2	P29466-5;P29466-4;Q5XLA6	.;.;CAR17_HUMAN	P	2	ENSP00000408446:A2P;ENSP00000433700:A2P;ENSP00000364859:A2P	ENSP00000433700:A2P	A	-	1	0	CARD16;CARD17;CASP1	104477348	0.997000	0.39634	0.555000	0.28281	0.011000	0.07611	1.723000	0.38053	1.541000	0.49316	0.511000	0.50034	GCC		0.463	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		Missense_Mutation
TUBA3C	7278	broad.mit.edu	37	13	19748092	19748092	+	Missense_Mutation	SNP	G	G	C	rs150743792	byFrequency	TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr13:19748092G>C	ENST00000400113.3	-	5	1368	c.1264C>G	c.(1264-1266)Cgc>Ggc	p.R422G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	422					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R422G(1)|p.R422C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGGTCCTCGCGGGCCTCAGAG	0.582																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	13											135.0	134.0	134.0					13																	19748092		2203	4300	6503	18646092	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1264C>G	13.37:g.19748092G>C	ENSP00000382982:p.Arg422Gly		18646092	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	g	5.467	0.271267	0.10349	.	.	ENSG00000198033	ENST00000400113	D	0.85258	-1.96	1.21	1.21	0.21127	.	0.000000	0.42964	U	0.000632	D	0.86594	0.5970	.	.	.	0.39043	D	0.960161	.	.	.	.	.	.	D	0.86641	0.1892	7	0.87932	D	0	.	8.3447	0.32266	0.0:0.0:1.0:0.0	.	.	.	.	G	422	ENSP00000382982:R422G	ENSP00000382982:R422G	R	-	1	0	TUBA3C	18646092	1.000000	0.71417	0.991000	0.47740	0.219000	0.24729	3.313000	0.51935	0.976000	0.38417	0.184000	0.17185	CGC		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		Missense_Mutation
DYNC1H1	1778	broad.mit.edu	37	14	102516871	102516871	+	Missense_Mutation	SNP	C	C	T	rs200224597		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr14:102516871C>T	ENST00000360184.4	+	78	14076	c.13912C>T	c.(13912-13914)Cgg>Tgg	p.R4638W	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4638					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R4638W(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTCTACGAGCGGGGTGTCGC	0.433																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	14											131.0	131.0	131.0					14																	102516871		2203	4300	6503	101586624	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13912C>T	14.37:g.102516871C>T	ENSP00000348965:p.Arg4638Trp		101586624	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	33	5.248250	0.95305	.	.	ENSG00000197102	ENST00000360184	T	0.09817	2.94	5.61	5.61	0.85477	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52109	-0.8619	10	0.87932	D	0	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	4638	Q14204	DYHC1_HUMAN	W	4638	ENSP00000348965:R4638W	ENSP00000348965:R4638W	R	+	1	2	DYNC1H1	101586624	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	7.526000	0.81920	2.656000	0.90262	0.561000	0.74099	CGG		0.433	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		Missense_Mutation
FBXL16	146330	broad.mit.edu	37	16	745879	745879	+	Silent	SNP	C	C	G			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr16:745879C>G	ENST00000397621.1	-	3	1009	c.678G>C	c.(676-678)tcG>tcC	p.S226S	FBXL16_ENST00000324361.5_Silent_p.S226S|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Silent_p.S14S	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	226								p.S226S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CGTTGCAGCCCGACAGCTCCA	0.672																																																1	Substitution - coding silent(1)	ovary(1)	16											25.0	25.0	25.0					16																	745879		2194	4282	6476	685880	SO:0001819	synonymous_variant	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.678G>C	16.37:g.745879C>G			685880	B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Silent	SNP	ENST00000397621.1	37	CCDS10421.1	SNP	23	Broad																																																																																				0.672	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350		Silent
HYDIN	54768	broad.mit.edu	37	16	70954718	70954718	+	Missense_Mutation	SNP	T	T	G	rs375727122|rs67115747|rs76335688		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr16:70954718T>G	ENST00000393567.2	-	46	7711	c.7561A>C	c.(7561-7563)Acg>Ccg	p.T2521P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2521					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.T151P(1)|p.T2472P(1)|p.T151L(1)|p.T2472L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				tccttctccgtgcgctccttc	0.716																																																4	Substitution - Missense(4)	ovary(4)	16											17.0	18.0	18.0					16																	70954718		1924	4091	6015	69512219	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7561A>C	16.37:g.70954718T>G	ENSP00000377197:p.Thr2521Pro		69512219	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	SNP	59	Broad	.	.	.	.	.	.	.	.	.	.	t	6.979	0.550588	0.13374	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	5.72	4.77	0.60923	.	1.225580	0.06646	U	0.761960	T	0.00695	0.0023	N	0.08118	0	0.27981	N	0.936014	P	0.37864	0.61	B	0.26416	0.069	T	0.50533	-0.8817	10	0.31617	T	0.26	.	9.1845	0.37163	0.0:0.7738:0.1465:0.0797	.	2520	F8WD23	.	P	2521;2520	ENSP00000377197:T2521P	ENSP00000313052:T2520P	T	-	1	0	HYDIN	69512219	0.586000	0.26782	0.145000	0.22337	0.073000	0.16967	1.943000	0.40253	1.415000	0.47037	-0.231000	0.12243	ACG		0.716	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7577571	7577571	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr17:7577571A>T	ENST00000269305.4	-	7	899	c.710T>A	c.(709-711)aTg>aAg	p.M237K	TP53_ENST00000420246.2_Missense_Mutation_p.M237K|TP53_ENST00000445888.2_Missense_Mutation_p.M237K|TP53_ENST00000413465.2_Missense_Mutation_p.M237K|TP53_ENST00000455263.2_Missense_Mutation_p.M237K|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.M237K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237K(11)|p.0?(8)|p.?(5)|p.M237_N239delMCN(4)|p.M237R(3)|p.M237T(2)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144K(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACTGTTACACATGTAGTTGTA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	43	Substitution - Missense(17)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	ovary(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(4)|endometrium(4)|bone(4)|upper_aerodigestive_tract(3)|lung(3)|breast(3)|central_nervous_system(2)|pancreas(2)|stomach(1)|urinary_tract(1)|prostate(1)	17											130.0	102.0	111.0					17																	7577571		2203	4300	6503	7518296	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.710T>A	17.37:g.7577571A>T	ENSP00000269305:p.Met237Lys		7518296	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483121	0.84747	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.91300	3.195	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.927;1.0;1.0;0.998;1.0	D;P;D;D;D;D	0.97110	0.999;0.754;1.0;1.0;0.999;1.0	D	0.96819	0.9602	10	0.87932	D	0	-32.6033	11.6823	0.51466	1.0:0.0:0.0:0.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	K	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237K;ENSP00000352610:M237K;ENSP00000269305:M237K;ENSP00000398846:M237K;ENSP00000391127:M237K;ENSP00000391478:M237K;ENSP00000425104:M105K;ENSP00000423862:M144K	ENSP00000269305:M237K	M	-	2	0	TP53	7518296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
SLC5A10	125206	broad.mit.edu	37	17	18872683	18872683	+	Silent	SNP	C	C	T	rs200235814		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr17:18872683C>T	ENST00000395645.3	+	7	606	c.588C>T	c.(586-588)gaC>gaT	p.D196D	FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Silent_p.D196D|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Silent_p.D196D	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	196					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D196D(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TCTACACGGACGCCCTGCAGA	0.647																																																1	Substitution - coding silent(1)	ovary(1)	17						C	,	1,4317		0,1,2158	51.0	59.0	56.0		588,588	-9.9	0.0	17		56	0,8548		0,0,4274	no	coding-synonymous,coding-synonymous	SLC5A10	NM_001042450.1,NM_152351.3	,	0,1,6432	TT,TC,CC		0.0,0.0232,0.0078	,	196/597,196/613	18872683	1,12865	2159	4274	6433	18813408	SO:0001819	synonymous_variant	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.588C>T	17.37:g.18872683C>T			18813408	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1	SNP	19	Broad																																																																																				0.647	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		Silent
ALDOC	230	broad.mit.edu	37	17	26900842	26900842	+	Missense_Mutation	SNP	G	G	A	rs376690171		TCGA-13-1487-01	TCGA-13-1487-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr17:26900842G>A	ENST00000226253.4	-	8	1385	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	ALDOC_ENST00000395319.3_Missense_Mutation_p.R276C|PIGS_ENST00000395346.2_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000543734.1_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.R304C	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	304					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)	p.R304C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGCAGGGCACGCCCATAGGAG	0.612																																																1	Substitution - Missense(1)	ovary(1)	17						G	CYS/ARG	0,4406		0,0,2203	95.0	98.0	97.0		910	5.5	1.0	17		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALDOC	NM_005165.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	304/365	26900842	1,13005	2203	4300	6503	23924969	SO:0001583	missense	230			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.910C>T	17.37:g.26900842G>A	ENSP00000226253:p.Arg304Cys		23924969	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	CCDS11236.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365169	0.82463	0.0	1.16E-4	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.92752	-3.1;-3.1;-3.1	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.98423	1.0578	10	0.87932	D	0	-5.7612	18.0813	0.89442	0.0:0.0:1.0:0.0	.	276;304	A8MVZ9;P09972	.;ALDOC_HUMAN	C	276;304;304	ENSP00000378729:R276C;ENSP00000226253:R304C;ENSP00000378731:R304C	ENSP00000226253:R304C	R	-	1	0	ALDOC	23924969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.780000	0.75063	2.573000	0.86826	0.462000	0.41574	CGT		0.612	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			Missense_Mutation
KRT13	3860	broad.mit.edu	37	17	39657518	39657518	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr17:39657518C>T	ENST00000246635.3	-	8	1413	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_3'UTR	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	456	Tail.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R456H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTAAGGCCTACGGACATCAGA	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											50.0	41.0	44.0					17																	39657518		2197	4285	6482	36911044	SO:0001583	missense	3860				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1367G>A	17.37:g.39657518C>T	ENSP00000246635:p.Arg456His		36911044	Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	CCDS11396.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357079	0.61293	.	.	ENSG00000171401	ENST00000246635	D	0.82344	-1.6	3.43	0.279	0.15677	.	0.000000	0.34460	N	0.003959	T	0.60392	0.2265	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.50709	-0.8796	10	0.51188	T	0.08	.	3.7254	0.08473	0.0:0.5585:0.2055:0.2361	.	456	P13646	K1C13_HUMAN	H	456	ENSP00000246635:R456H	ENSP00000246635:R456H	R	-	2	0	KRT13	36911044	0.015000	0.18098	0.000000	0.03702	0.427000	0.31564	0.511000	0.22739	0.118000	0.18165	-0.333000	0.08304	CGT		0.607	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		Missense_Mutation
JUP	3728	broad.mit.edu	37	17	39919263	39919263	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1487-01	TCGA-13-1487-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr17:39919263T>C	ENST00000393931.3	-	8	1587	c.1469A>G	c.(1468-1470)aAc>aGc	p.N490S	JUP_ENST00000310706.5_Missense_Mutation_p.N490S|JUP_ENST00000393930.1_Missense_Mutation_p.N490S|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	490					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.N490S(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)		GTTGGGCTGGTTGAGCAGCTT	0.602																																					Colon(16;42 520 6044 17852 28530)											1	Substitution - Missense(1)	ovary(1)	17											61.0	55.0	57.0					17																	39919263		2203	4300	6503	37172789	SO:0001583	missense	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.1469A>G	17.37:g.39919263T>C	ENSP00000377508:p.Asn490Ser		37172789	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	CCDS11407.1	SNP	60	Broad	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802848	0.50315	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.63913	-0.07;-0.07;-0.07	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.119302	0.85682	D	0.000000	T	0.52141	0.1716	L	0.31845	0.965	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.50381	-0.8835	10	0.51188	T	0.08	-46.6752	14.3357	0.66589	0.0:0.0:0.0:1.0	.	490	P14923	PLAK_HUMAN	S	490	ENSP00000377507:N490S;ENSP00000311113:N490S;ENSP00000377508:N490S	ENSP00000311113:N490S	N	-	2	0	JUP	37172789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.714000	0.84703	2.165000	0.68154	0.459000	0.35465	AAC		0.602	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			Missense_Mutation
EPB41L3	23136	broad.mit.edu	37	18	5434019	5434019	+	Missense_Mutation	SNP	T	T	A			TCGA-13-1487-01	TCGA-13-1487-10			T	A	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr18:5434019T>A	ENST00000341928.2	-	7	1047	c.707A>T	c.(706-708)gAg>gTg	p.E236V	EPB41L3_ENST00000400111.3_Missense_Mutation_p.E236V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E236V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E236V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E236V|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	236	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.E236V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTCTCCGAGCTCTGACTGGAC	0.517																																																1	Substitution - Missense(1)	ovary(1)	18											160.0	143.0	149.0					18																	5434019		2203	4300	6503	5424019	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.707A>T	18.37:g.5434019T>A	ENSP00000343158:p.Glu236Val		5424019	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	SNP	54	Broad	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891869	0.91889	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T;T	0.77750	-0.98;-1.12;-0.98;-0.98;-0.98	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.042122	0.85682	D	0.000000	D	0.90584	0.7048	M	0.91300	3.195	0.80722	D	1	D;D;P;P;P	0.64830	0.994;0.977;0.908;0.888;0.885	D;P;P;P;P	0.74023	0.982;0.813;0.6;0.465;0.768	D	0.92369	0.5904	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	236;236;127;236;236	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	V	236;127;236;127;236;236	ENSP00000343158:E236V;ENSP00000442091:E127V;ENSP00000441174:E236V;ENSP00000341138:E236V;ENSP00000382981:E236V	ENSP00000343158:E236V	E	-	2	0	EPB41L3	5424019	1.000000	0.71417	0.991000	0.47740	0.879000	0.50718	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAG		0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		Missense_Mutation
NOL4	8715	broad.mit.edu	37	18	31523137	31523137	+	Silent	SNP	T	T	C			TCGA-13-1487-01	TCGA-13-1487-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr18:31523137T>C	ENST00000261592.5	-	9	1731	c.1434A>G	c.(1432-1434)cgA>cgG	p.R478R	NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535384.1_Silent_p.R193R|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000538587.1_Silent_p.R404R|NOL4_ENST00000535475.1_Silent_p.R259R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	478						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.R478R(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AAGGAATAGGTCGAGACTAAA	0.403																																																1	Substitution - coding silent(1)	ovary(1)	18											65.0	61.0	62.0					18																	31523137		2203	4300	6503	29777135	SO:0001819	synonymous_variant	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1434A>G	18.37:g.31523137T>C			29777135	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	CCDS11907.2	SNP	58	Broad																																																																																				0.403	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		Silent
SERPINB13	5275	broad.mit.edu	37	18	61260156	61260156	+	Silent	SNP	C	C	T	rs150453343		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr18:61260156C>T	ENST00000344731.5	+	5	525	c.423C>T	c.(421-423)gcC>gcT	p.A141A	SERPINB13_ENST00000269489.5_Silent_p.A141A	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	141					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A141A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TAAATGCAGCCGATGAAAGTC	0.328																																																1	Substitution - coding silent(1)	ovary(1)	18						C		0,4406		0,0,2203	103.0	113.0	109.0		423	-4.9	1.0	18	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SERPINB13	NM_012397.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/392	61260156	1,13005	2203	4300	6503	59411136	SO:0001819	synonymous_variant	5275			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.423C>T	18.37:g.61260156C>T			59411136	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Silent	SNP	ENST00000344731.5	37	CCDS11985.1	SNP	23	Broad																																																																																				0.328	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		Silent
TSHZ1	10194	broad.mit.edu	37	18	72998116	72998116	+	Missense_Mutation	SNP	A	A	T			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr18:72998116A>T	ENST00000580243.1	+	2	1102	c.754A>T	c.(754-756)Agt>Tgt	p.S252C	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S207C			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	252					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S207C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAAAGACTGCAGTGCCGCGTA	0.597																																																1	Substitution - Missense(1)	ovary(1)	18											75.0	59.0	65.0					18																	72998116		2203	4300	6503	71127104	SO:0001583	missense	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.754A>T	18.37:g.72998116A>T	ENSP00000464391:p.Ser252Cys		71127104	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	13.30	2.196224	0.38806	.	.	ENSG00000179981	ENST00000322038	T	0.17370	2.28	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	M	0.66939	2.045	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.21690	-1.0238	10	0.87932	D	0	-20.5848	15.4697	0.75432	1.0:0.0:0.0:0.0	.	252	Q6ZSZ6	TSH1_HUMAN	C	207	ENSP00000323584:S207C	ENSP00000323584:S207C	S	+	1	0	TSHZ1	71127104	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	7.170000	0.77587	2.523000	0.85059	0.655000	0.94253	AGT		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		Missense_Mutation
MED26	9441	broad.mit.edu	37	19	16686872	16686872	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr19:16686872C>T	ENST00000263390.3	-	3	2031	c.1769G>A	c.(1768-1770)cGc>cAc	p.R590H	CTD-3222D19.2_ENST00000409035.1_Intron|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	590					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)	p.R590H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AATGTTCAAGCGCCCGTCGTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	19											55.0	51.0	53.0					19																	16686872		2203	4300	6503	16547872	SO:0001583	missense	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1769G>A	19.37:g.16686872C>T	ENSP00000263390:p.Arg590His		16547872	A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	CCDS12347.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	14.93	2.680963	0.47886	.	.	ENSG00000105085	ENST00000263390	T	0.53206	0.63	5.28	3.16	0.36331	.	0.285477	0.38381	N	0.001710	T	0.41373	0.1156	L	0.56769	1.78	0.42344	D	0.992342	B	0.26445	0.149	B	0.19148	0.024	T	0.44787	-0.9305	10	0.62326	D	0.03	-18.4314	10.0982	0.42488	0.0:0.8385:0.0:0.1615	.	590	O95402	MED26_HUMAN	H	590	ENSP00000263390:R590H	ENSP00000263390:R590H	R	-	2	0	MED26	16547872	0.997000	0.39634	0.993000	0.49108	0.329000	0.28539	2.299000	0.43611	1.224000	0.43551	0.591000	0.81541	CGC		0.622	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		Missense_Mutation
NLRP11	204801	broad.mit.edu	37	19	56307535	56307535	+	Silent	SNP	C	C	G			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr19:56307535C>G	ENST00000589093.1	-	6	2346	c.2253G>C	c.(2251-2253)ctG>ctC	p.L751L	NLRP11_ENST00000592953.1_Silent_p.L652L|NLRP11_ENST00000589824.2_Silent_p.L697L|NLRP11_ENST00000360133.3_Silent_p.L697L|NLRP11_ENST00000443188.1_Silent_p.L751L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	751							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.L751L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGGATAAGGTCAGTTTTCTCA	0.478																																																1	Substitution - coding silent(1)	ovary(1)	19											139.0	126.0	131.0					19																	56307535		2203	4300	6503	60999347	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2253G>C	19.37:g.56307535C>G			60999347	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1	SNP	29	Broad																																																																																				0.478	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		Silent
ZNF773	374928	broad.mit.edu	37	19	58016146	58016146	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1487-01	TCGA-13-1487-10			C	A	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr19:58016146C>A	ENST00000282292.4	+	2	295	c.155C>A	c.(154-156)gCc>gAc	p.A52D	ZNF773_ENST00000598770.1_Missense_Mutation_p.A51D|ZNF773_ENST00000593916.1_Missense_Mutation_p.A51D|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000599847.1_Missense_Mutation_p.A52D	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A52D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ACACTTCTGGCCTCTCTGGGT	0.532																																																1	Substitution - Missense(1)	ovary(1)	19											85.0	72.0	76.0					19																	58016146		2203	4298	6501	62707958	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.155C>A	19.37:g.58016146C>A	ENSP00000282292:p.Ala52Asp		62707958	Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	CCDS33134.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848849	0.32699	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.01933	4.55	1.39	1.39	0.22231	Krueppel-associated box (4);	.	.	.	.	T	0.08358	0.0208	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.973;0.999	T	0.10222	-1.0639	9	0.87932	D	0	.	8.7069	0.34360	0.0:1.0:0.0:0.0	.	51;52	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	D	75;52	ENSP00000282292:A52D	ENSP00000282292:A52D	A	+	2	0	ZNF773	62707958	0.000000	0.05858	0.089000	0.20774	0.503000	0.33858	-0.320000	0.08028	1.084000	0.41184	0.305000	0.20034	GCC		0.532	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		Missense_Mutation
TRAPPC12	51112	broad.mit.edu	37	2	3469378	3469378	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr2:3469378T>C	ENST00000324266.5	+	9	1883	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L563P	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	563					vesicle-mediated transport (GO:0016192)			p.L563P(1)									GATTATGTGCTGGCCGTGGAG	0.527																																																1	Substitution - Missense(1)	ovary(1)	2											115.0	108.0	111.0					2																	3469378		2203	4300	6503	3448385	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1688T>C	2.37:g.3469378T>C	ENSP00000324318:p.Leu563Pro		3448385	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	CCDS1652.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	16.10	3.028083	0.54790	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	T;T;T	0.63744	-0.06;-0.06;-0.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80909	0.4714	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.82741	-0.0307	10	0.48119	T	0.1	.	15.072	0.72046	0.0:0.0:0.0:1.0	.	552;563	E7ENL7;Q8WVT3	.;TPC12_HUMAN	P	563;552;563;61	ENSP00000371544:L563P;ENSP00000324318:L563P;ENSP00000396592:L61P	ENSP00000303612:L552P	L	+	2	0	TTC15	3448385	1.000000	0.71417	0.960000	0.40013	0.035000	0.12851	7.496000	0.81526	2.146000	0.66826	0.533000	0.62120	CTG		0.527	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		Missense_Mutation
GLI2	2736	broad.mit.edu	37	2	121747071	121747071	+	Missense_Mutation	SNP	G	G	A	rs200034506		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr2:121747071G>A	ENST00000452319.1	+	14	3641	c.3581G>A	c.(3580-3582)aGc>aAc	p.S1194N	GLI2_ENST00000361492.4_Missense_Mutation_p.S1194N|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTACAGGCTAGCCCTGGGGGC	0.667																																																0			2											14.0	18.0	16.0					2																	121747071		2183	4246	6429	121463541	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3581G>A	2.37:g.121747071G>A	ENSP00000390436:p.Ser1194Asn		121463541		Missense_Mutation	SNP	ENST00000452319.1	37	CCDS33283.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.257572	0.01457	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15372	2.43;2.43	4.72	3.84	0.44239	.	0.519881	0.22311	N	0.061726	T	0.16769	0.0403	L	0.57536	1.79	0.20074	N	0.999933	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.14615	-1.0466	9	.	.	.	.	9.59	0.39539	0.0818:0.1538:0.7644:0.0	.	1194;849	P10070;P10070-2	GLI2_HUMAN;.	N	1194	ENSP00000390436:S1194N;ENSP00000354586:S1194N	.	S	+	2	0	GLI2	121463541	0.028000	0.19301	0.177000	0.23020	0.031000	0.12232	0.082000	0.14847	1.224000	0.43551	0.449000	0.29647	AGC		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		Missense_Mutation
COL4A4	1286	broad.mit.edu	37	2	227942761	227942761	+	Silent	SNP	T	T	C			TCGA-13-1487-01	TCGA-13-1487-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr2:227942761T>C	ENST00000396625.3	-	25	2043	c.1836A>G	c.(1834-1836)aaA>aaG	p.K612K	COL4A4_ENST00000329662.7_Silent_p.K612K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	612	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.K612K(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGGAAATCCTTTACCACCTG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	2											36.0	38.0	37.0					2																	227942761		1830	4089	5919	227651005	SO:0001819	synonymous_variant	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1836A>G	2.37:g.227942761T>C			227651005	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	CCDS42828.1	SNP	56	Broad																																																																																				0.557	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		Silent
INSM1	3642	broad.mit.edu	37	20	20350306	20350306	+	Silent	SNP	C	C	G	rs531505955	byFrequency	TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr20:20350306C>G	ENST00000310227.1	+	1	1542	c.1395C>G	c.(1393-1395)gcC>gcG	p.A465A		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	465					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A465A(1)		liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGCTGCACGCCGCCCAGGTGT	0.667																																																1	Substitution - coding silent(1)	ovary(1)	20											19.0	22.0	21.0					20																	20350306		2184	4283	6467	20298306	SO:0001819	synonymous_variant	3642				CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1395C>G	20.37:g.20350306C>G			20298306		Silent	SNP	ENST00000310227.1	37	CCDS13143.1	SNP	23	Broad																																																																																				0.667	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		Silent
CST3	1471	broad.mit.edu	37	20	23615890	23615890	+	Splice_Site	SNP	C	C	A			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr20:23615890C>A	ENST00000398411.1	-	2	440		c.e2+1		CST3_ENST00000398409.1_Splice_Site|RP11-218C14.8_ENST00000602977.1_lincRNA|CST3_ENST00000376925.3_Splice_Site			P01034	CYTC_HUMAN	cystatin C						apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)	p.?(1)		large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AAGGCACATACCCTTTTCAGA	0.542																																																1	Unknown(1)	ovary(1)	20											191.0	153.0	166.0					20																	23615890		2203	4300	6503	23563890	SO:0001630	splice_region_variant	1471				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.357+1G>T	20.37:g.23615890C>A			23563890	B2R5J9|D3DW42|Q6FGW9	Splice_Site_SNP	SNP	ENST00000398411.1	37	CCDS13158.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968670	0.53614	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1373	0.53979	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CST3	23563890	1.000000	0.71417	0.938000	0.37757	0.846000	0.48090	3.570000	0.53834	1.988000	0.58038	0.484000	0.47621	.		0.542	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099	Intron	Splice_Site_SNP
ZNF335	63925	broad.mit.edu	37	20	44596990	44596990	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr20:44596990C>G	ENST00000322927.2	-	4	554	c.454G>C	c.(454-456)Gtg>Ctg	p.V152L	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	152					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.V152L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCACTGGTCACAGTGATGCAG	0.647																																																1	Substitution - Missense(1)	ovary(1)	20											122.0	108.0	112.0					20																	44596990		2203	4300	6503	44030397	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.454G>C	20.37:g.44596990C>G	ENSP00000325326:p.Val152Leu		44030397	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	CCDS13389.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937187	0.73557	.	.	ENSG00000198026	ENST00000322927	T	0.15718	2.4	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.30293	0.0760	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.03423	-1.1038	10	0.56958	D	0.05	-9.3284	17.4845	0.87683	0.0:1.0:0.0:0.0	.	152	Q9H4Z2	ZN335_HUMAN	L	152	ENSP00000325326:V152L	ENSP00000325326:V152L	V	-	1	0	ZNF335	44030397	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	5.241000	0.65384	2.608000	0.88229	0.561000	0.74099	GTG		0.647	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		Missense_Mutation
SLC12A5	57468	broad.mit.edu	37	20	44678386	44678386	+	Missense_Mutation	SNP	G	G	A			TCGA-13-1487-01	TCGA-13-1487-10			G	A	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr20:44678386G>A	ENST00000454036.2	+	17	2256	c.2207G>A	c.(2206-2208)gGc>gAc	p.G736D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G713D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	736					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.G713D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCCTTGAGGGCACCTTTCTG	0.597																																																1	Substitution - Missense(1)	ovary(1)	20											47.0	33.0	38.0					20																	44678386		2203	4300	6503	44111793	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2207G>A	20.37:g.44678386G>A	ENSP00000387694:p.Gly736Asp		44111793	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883633	0.91740	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.95980	-3.87;-3.87	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.967;0.996	D	0.99537	1.0962	10	0.87932	D	0	.	15.7912	0.78367	0.0:0.0:1.0:0.0	.	736;713	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	736;713	ENSP00000387694:G736D;ENSP00000243964:G713D	ENSP00000243964:G713D	G	+	2	0	SLC12A5	44111793	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.657000	0.98554	2.282000	0.76494	0.467000	0.42956	GGC		0.597	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			Missense_Mutation
STAC	6769	broad.mit.edu	37	3	36534720	36534720	+	Splice_Site	SNP	C	C	T	rs377372947		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr3:36534720C>T	ENST00000273183.3	+	6	1065	c.765C>T	c.(763-765)agC>agT	p.S255S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Splice_Site_p.S194S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	255					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.S255S(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCAGCAACAGCGGTGAGTGAG	0.527																																																1	Substitution - coding silent(1)	ovary(1)	3						C		1,4405	2.1+/-5.4	0,1,2202	107.0	107.0	107.0		765	-4.9	1.0	3		107	0,8600		0,0,4300	no	coding-synonymous-near-splice	STAC	NM_003149.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		255/403	36534720	1,13005	2203	4300	6503	36509724	SO:0001630	splice_region_variant	6769			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.766+1C>T	3.37:g.36534720C>T			36509724	B2R8S8	Silent	SNP	ENST00000273183.3	37	CCDS2662.1	SNP	27	Broad																																																																																				0.527	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149	Silent	Silent
PRKCI	5584	broad.mit.edu	37	3	169999697	169999697	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1487-01	TCGA-13-1487-10			T	G	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr3:169999697T>G	ENST00000295797.4	+	11	1313	c.1008T>G	c.(1006-1008)aaT>aaG	p.N336K		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.N327K(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AGTATGTAAATGGAGGAGACC	0.358																																																1	Substitution - Missense(1)	ovary(1)	3											181.0	172.0	175.0					3																	169999697		2203	4300	6503	171482391	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1008T>G	3.37:g.169999697T>G	ENSP00000295797:p.Asn336Lys		171482391	D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	CCDS3212.2	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113647	0.77210	.	.	ENSG00000163558	ENST00000295797	T	0.24538	1.85	5.56	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	N	0.12920	0.275	0.80722	D	1	D	0.59357	0.985	P	0.56474	0.799	T	0.02333	-1.1175	9	.	.	.	.	12.0947	0.53748	0.0:0.0703:0.0:0.9297	.	336	P41743	KPCI_HUMAN	K	336	ENSP00000295797:N336K	.	N	+	3	2	PRKCI	171482391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.980000	0.49321	2.237000	0.73441	0.460000	0.39030	AAT		0.358	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		Missense_Mutation
CCNA2	890	broad.mit.edu	37	4	122742220	122742220	+	Missense_Mutation	SNP	T	T	G			TCGA-13-1487-01	TCGA-13-1487-10			T	G	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr4:122742220T>G	ENST00000274026.5	-	3	787	c.484A>C	c.(484-486)Att>Ctt	p.I162L		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	162					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.I162L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCTAATATAATTGACATGTCC	0.348																																																1	Substitution - Missense(1)	ovary(1)	4											193.0	185.0	187.0					4																	122742220		2203	4299	6502	122961670	SO:0001583	missense	890				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.484A>C	4.37:g.122742220T>G	ENSP00000274026:p.Ile162Leu		122961670	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	CCDS3723.1	SNP	52	Broad	.	.	.	.	.	.	.	.	.	.	T	5.829	0.337143	0.11013	.	.	ENSG00000145386	ENST00000274026	T	0.13538	2.58	5.86	0.411	0.16392	.	0.665471	0.12795	U	0.438573	T	0.11239	0.0274	L	0.58101	1.795	0.21675	N	0.999594	B	0.02656	0.0	B	0.04013	0.001	T	0.46048	-0.9219	10	0.02654	T	1	.	9.5124	0.39085	0.0:0.3839:0.0:0.6161	.	162	P20248	CCNA2_HUMAN	L	162	ENSP00000274026:I162L	ENSP00000274026:I162L	I	-	1	0	CCNA2	122961670	0.000000	0.05858	0.546000	0.28166	0.983000	0.72400	-1.060000	0.03475	0.094000	0.17404	0.482000	0.46254	ATT		0.348	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		Missense_Mutation
CDH9	1007	broad.mit.edu	37	5	26885780	26885780	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr5:26885780C>T	ENST00000231021.4	-	11	1997	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	609					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A609T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCAGGCCGGCTGAAAGGATC	0.498																																					Melanoma(8;187 585 15745 40864 52829)											1	Substitution - Missense(1)	ovary(1)	5											81.0	67.0	72.0					5																	26885780		2203	4300	6503	26921537	SO:0001583	missense	1007			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1825G>A	5.37:g.26885780C>T	ENSP00000231021:p.Ala609Thr		26921537	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188394	0.57909	.	.	ENSG00000113100	ENST00000231021	T	0.56776	0.44	5.89	5.89	0.94794	.	0.048358	0.85682	D	0.000000	T	0.51244	0.1663	L	0.56280	1.765	0.58432	D	0.999999	B;B	0.20164	0.042;0.019	B;B	0.21151	0.022;0.033	T	0.40175	-0.9577	9	.	.	.	.	18.82	0.92092	0.0:1.0:0.0:0.0	.	202;609	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	609	ENSP00000231021:A609T	.	A	-	1	0	CDH9	26921537	1.000000	0.71417	0.186000	0.23195	0.641000	0.38312	4.944000	0.63561	2.797000	0.96272	0.563000	0.77884	GCC		0.498	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		Missense_Mutation
PARP8	79668	broad.mit.edu	37	5	50128649	50128649	+	Silent	SNP	C	C	T	rs201764927		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr5:50128649C>T	ENST00000281631.5	+	23	2426	c.2268C>T	c.(2266-2268)gaC>gaT	p.D756D	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Silent_p.D714D|PARP8_ENST00000505554.1_Silent_p.D735D|PARP8_ENST00000505697.2_Silent_p.D756D|PARP8_ENST00000514067.2_Silent_p.D714D|PARP8_ENST00000514342.2_Silent_p.D467D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	756	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D756D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAGCCAAGGACGAGCCAGCTT	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	5											163.0	137.0	146.0					5																	50128649		2203	4300	6503	50164406	SO:0001819	synonymous_variant	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2268C>T	5.37:g.50128649C>T			50164406	Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	CCDS3954.1	SNP	19	Broad																																																																																				0.438	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		Silent
WWC1	23286	broad.mit.edu	37	5	167891765	167891765	+	Missense_Mutation	SNP	G	G	A	rs139653620		TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr5:167891765G>A	ENST00000265293.4	+	21	3450	c.2948G>A	c.(2947-2949)cGt>cAt	p.R983H	WWC1_ENST00000521089.1_Missense_Mutation_p.R989H|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	983	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.R983H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGCTCCGAGCGTCTGATCCGT	0.602																																																1	Substitution - Missense(1)	ovary(1)	5						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	54.0	53.0	53.0		2966,2966,2948	4.1	1.0	5	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	989/1120,989/1119,983/1114	167891765	1,13005	2203	4300	6503	167824343	SO:0001583	missense	23286			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2948G>A	5.37:g.167891765G>A	ENSP00000265293:p.Arg983His		167824343	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760611	0.31137	0.0	1.16E-4	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.42131	0.98;0.98;0.98	4.99	4.12	0.48240	.	0.129675	0.56097	D	0.000032	T	0.30947	0.0781	L	0.33485	1.01	0.50632	D	0.999882	B;B	0.21821	0.061;0.01	B;B	0.16722	0.016;0.005	T	0.05971	-1.0853	10	0.18276	T	0.48	.	13.4327	0.61064	0.076:0.0:0.924:0.0	.	989;983	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	H	983;989;315	ENSP00000265293:R983H;ENSP00000427772:R989H;ENSP00000428084:R315H	ENSP00000265293:R983H	R	+	2	0	WWC1	167824343	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.504000	0.66968	1.106000	0.41623	0.442000	0.29010	CGT		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		Missense_Mutation
ITPR3	3710	broad.mit.edu	37	6	33639804	33639804	+	Splice_Site	SNP	A	A	G			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr6:33639804A>G	ENST00000374316.5	+	23	3788		c.e23-1		ITPR3_ENST00000605930.1_Splice_Site			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.?(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCCCTCCACAGGCAAGAATG	0.592																																																1	Unknown(1)	ovary(1)	6											69.0	64.0	66.0					6																	33639804		2203	4300	6503	33747782	SO:0001630	splice_region_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2729-1A>G	6.37:g.33639804A>G			33747782	Q14649|Q5TAQ2	Splice_Site_SNP	SNP	ENST00000374316.5	37	CCDS4783.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766642	0.69878	.	.	ENSG00000096433	ENST00000374316	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5417	0.76057	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPR3	33747782	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	8.710000	0.91388	2.072000	0.62099	0.533000	0.62120	.		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	Intron	Splice_Site_SNP
MLIP	90523	broad.mit.edu	37	6	53989390	53989390	+	Silent	SNP	A	A	C			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr6:53989390A>C	ENST00000274897.5	+	3	452	c.339A>C	c.(337-339)gcA>gcC	p.A113A	MLIP_ENST00000514921.1_Silent_p.A113A|MLIP_ENST00000370876.2_Silent_p.A51A|MLIP_ENST00000370877.2_Silent_p.A61A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.A124A|MLIP_ENST00000358276.5_Silent_p.A107A|MLIP_ENST00000509997.1_Silent_p.A61A	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	113						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.A113A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AATTCGAAGCAAACAAACTTC	0.453																																																1	Substitution - coding silent(1)	ovary(1)	6											114.0	109.0	111.0					6																	53989390		2203	4300	6503	54097349	SO:0001819	synonymous_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.339A>C	6.37:g.53989390A>C			54097349	B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	CCDS4954.1	SNP	5	Broad																																																																																				0.453	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		Silent
MTO1	25821	broad.mit.edu	37	6	74191780	74191780	+	Silent	SNP	C	C	A			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr6:74191780C>A	ENST00000370300.4	+	9	1443	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	MTO1_ENST00000370305.1_Silent_p.I377I|MTO1_ENST00000415954.2_Silent_p.I466I|MTO1_ENST00000498286.1_Silent_p.I426I	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	451					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.I451I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TAGCCGGAATCAACGCCAGTC	0.463																																																1	Substitution - coding silent(1)	ovary(1)	6											120.0	102.0	109.0					6																	74191780		2203	4300	6503	74248501	SO:0001819	synonymous_variant	25821			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1353C>A	6.37:g.74191780C>A			74248501	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Silent	SNP	ENST00000370300.4	37	CCDS4979.1	SNP	29	Broad																																																																																				0.463	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		Silent
SYNE1	23345	broad.mit.edu	37	6	152776693	152776693	+	Missense_Mutation	SNP	C	C	G			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr6:152776693C>G	ENST00000367255.5	-	24	3361	c.2760G>C	c.(2758-2760)aaG>aaC	p.K920N	SYNE1_ENST00000423061.1_Missense_Mutation_p.K927N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K920N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K920N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K920N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K986N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K910N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K487N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K927N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	920					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K920N(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCCACATGCTTCTTCCAAT	0.433										HNSCC(10;0.0054)																																						2	Substitution - Missense(2)	ovary(2)	6											117.0	116.0	116.0					6																	152776693		2203	4300	6503	152818386	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2760G>C	6.37:g.152776693C>G	ENSP00000356224:p.Lys920Asn		152818386	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632238	0.67015	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.32;1.3;1.3;1.3;1.3	5.48	1.15	0.20763	.	0.000000	0.64402	D	0.000015	T	0.34948	0.0915	M	0.64997	1.995	0.80722	D	1	D;P;D;D;D;P;D	0.89917	1.0;0.944;0.995;0.995;0.999;0.944;0.998	D;P;P;D;D;P;D	0.71870	0.975;0.554;0.858;0.933;0.957;0.554;0.933	T	0.16600	-1.0397	10	0.21014	T	0.42	.	9.5335	0.39209	0.0:0.5086:0.0:0.4914	.	903;920;487;910;920;920;927	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	920;927;920;927;986;920;910;920;487	ENSP00000356224:K920N;ENSP00000396024:K927N;ENSP00000265368:K920N;ENSP00000390975:K927N;ENSP00000341887:K986N;ENSP00000356222:K920N;ENSP00000356217:K910N;ENSP00000414510:K920N;ENSP00000438508:K487N	ENSP00000265368:K920N	K	-	3	2	SYNE1	152818386	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	1.022000	0.30052	0.139000	0.18822	0.655000	0.94253	AAG		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		Missense_Mutation
ZNF713	349075	broad.mit.edu	37	7	55990969	55990969	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1487-01	TCGA-13-1487-10			C	A	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr7:55990969C>A	ENST00000429591.2	+	2	201	c.163C>A	c.(163-165)Cta>Ata	p.L55I	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Missense_Mutation_p.L55I	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L55I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTACAGGAATCTAGTTGCACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	7											128.0	115.0	119.0					7																	55990969		2203	4300	6503	55958463	SO:0001583	missense	349075			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.163C>A	7.37:g.55990969C>A	ENSP00000416662:p.Leu55Ile		55958463		Missense_Mutation	SNP	ENST00000429591.2	37	CCDS34639.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301517	0.40694	.	.	ENSG00000249773;ENSG00000178665	ENST00000426595;ENST00000429591	T;T	0.03524	3.9;3.9	2.93	2.93	0.34026	Krueppel-associated box (4);	.	.	.	.	T	0.11922	0.0290	M	0.88512	2.96	0.20563	N	0.999888	P	0.46395	0.877	P	0.48488	0.579	T	0.06643	-1.0815	9	0.87932	D	0	.	8.1126	0.30924	0.0:0.7499:0.2501:0.0	.	55	Q8N859	ZN713_HUMAN	I	55	ENSP00000390331:L55I;ENSP00000416662:L55I	ENSP00000390331:L55I	L	+	1	2	RP11-15K19.2;ZNF713	55958463	0.199000	0.23386	0.596000	0.28811	0.482000	0.33219	0.285000	0.18883	1.935000	0.56089	0.561000	0.74099	CTA		0.502	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343297.1	NM_182633		Missense_Mutation
EYA1	2138	broad.mit.edu	37	8	72234073	72234073	+	Missense_Mutation	SNP	G	G	C			TCGA-13-1487-01	TCGA-13-1487-10			G	C	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-13-1487-01	TCGA-13-1487-10	g.chr8:72234073G>C	ENST00000340726.3	-	6	953	c.314C>G	c.(313-315)aCt>aGt	p.T105S	EYA1_ENST00000303824.7_Missense_Mutation_p.T104S|EYA1_ENST00000388742.4_Missense_Mutation_p.T105S|EYA1_ENST00000388740.3_Missense_Mutation_p.T72S|EYA1_ENST00000388743.2_Missense_Mutation_p.T104S|EYA1_ENST00000388741.2_Missense_Mutation_p.T71S|EYA1_ENST00000419131.1_Missense_Mutation_p.T105S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	105					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.T105S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCAGCCATAGTTTGTGAGGA	0.468																																																1	Substitution - Missense(1)	ovary(1)	8											191.0	167.0	175.0					8																	72234073		2203	4300	6503	72396627	SO:0001583	missense	2138			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.314C>G	8.37:g.72234073G>C	ENSP00000342626:p.Thr105Ser		72396627	A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	CCDS34906.1	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965167	0.53507	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.19	5.19	0.71726	.	0.047072	0.85682	D	0.000000	D	0.85544	0.5721	L	0.36672	1.1	0.43029	D	0.994594	B;B;B;B;B	0.17038	0.008;0.02;0.02;0.008;0.004	B;B;B;B;B	0.17722	0.019;0.012;0.012;0.019;0.012	T	0.81090	-0.1090	10	0.45353	T	0.12	-14.0187	19.0782	0.93171	0.0:0.0:1.0:0.0	.	104;32;72;105;105	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	S	105;105;73;72;104;71;104;105	ENSP00000373394:T105S;ENSP00000342626:T105S;ENSP00000373392:T72S;ENSP00000303221:T104S;ENSP00000373393:T71S;ENSP00000373395:T104S;ENSP00000410176:T105S	ENSP00000303221:T104S	T	-	2	0	EYA1	72396627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.382000	0.79729	2.576000	0.86940	0.650000	0.86243	ACT		0.468	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		Missense_Mutation
SON	6651	broad.mit.edu	37	21	34925612	34925635	+	In_Frame_Del	DEL	GTCCTGGAGTCTTCGGCTGTGACC	GTCCTGGAGTCTTCGGCTGTGACC	-	rs140276173|rs550454473|rs113673546	byFrequency	TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1487-01	TCGA-13-1487-10	g.chr21:34925612_34925635delGTCCTGGAGTCTTCGGCTGTGACC	ENST00000356577.4	+	3	4550_4573	c.4075_4098delGTCCTGGAGTCTTCGGCTGTGACC	c.(4075-4098)gtcctggagtcttcggctgtgaccdel	p.VLESSAVT1359del	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_In_Frame_Del_p.VLESSAVT1359del|SON_ENST00000381679.4_In_Frame_Del_p.VLESSAVT1359del|SON_ENST00000300278.4_In_Frame_Del_p.VLESSAVT1359del	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1359	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGCTATGGCTGTCCTGGAGTCTTCGGCTGTGACCGTCCTGGAGT	0.571																																																0			21							,	21,4243		0,21,2111					,	-0.6	0.0			44	100,8154		0,100,4027	no	coding,coding	SON	NM_138927.1,NM_032195.1	,	0,121,6138	A1A1,A1R,RR		1.2115,0.4925,0.9666	,	,		121,12397				33847505	SO:0001651	inframe_deletion	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4075_4098delGTCCTGGAGTCTTCGGCTGTGACC	21.37:g.34925612_34925635delGTCCTGGAGTCTTCGGCTGTGACC	ENSP00000348984:p.Val1359_Thr1366del		33847482	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Del	DEL	ENST00000356577.4	37	CCDS13629.1	DEL	48	Broad																																																																																				0.571	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		In_Frame_Del
SNRK	54861	broad.mit.edu	37	3	43389892	43389895	+	Frame_Shift_Del	DEL	CCAC	CCAC	-			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1487-01	TCGA-13-1487-10	g.chr3:43389892_43389895delCCAC	ENST00000296088.7	+	7	2445_2448	c.2141_2144delCCAC	c.(2140-2145)accaccfs	p.TT714fs	RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000437827.1_Frame_Shift_Del_p.TT508fs|SNRK_ENST00000429705.2_Frame_Shift_Del_p.TT714fs|SNRK_ENST00000454177.1_Frame_Shift_Del_p.TT714fs|SNRK-AS1_ENST00000422681.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase									p.T715fs*6(2)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		ATGGCAGATACCACCACTGAATTG	0.49																																																2	Deletion - Frameshift(2)	ovary(2)	3																																								43364899	SO:0001589	frameshift_variant	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.2141_2144delCCAC	3.37:g.43389892_43389895delCCAC	ENSP00000296088:p.Thr714fs		43364896		Frame_Shift_Del	DEL	ENST00000296088.7	37	CCDS43075.1	DEL	18	Broad																																																																																				0.490	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719		Frame_Shift_Del
FOXO3	2309	broad.mit.edu	37	6	108985548	108985549	+	Frame_Shift_Ins	INS	-	-	C			TCGA-13-1487-01	TCGA-13-1487-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-13-1487-01	TCGA-13-1487-10	g.chr6:108985548_108985549insC	ENST00000343882.6	+	3	1816_1817	c.1512_1513insC	c.(1513-1515)tccfs	p.S505fs	FOXO3_ENST00000540898.1_Frame_Shift_Ins_p.S285fs|FOXO3_ENST00000406360.1_Frame_Shift_Ins_p.S505fs	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	505					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S505fs*10(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCCCAGAATTCCCGCCGGAA	0.554																																																1	Insertion - Frameshift(1)	ovary(1)	6																																								109092242	SO:0001589	frameshift_variant	2309			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	Exception_encountered	6.37:g.108985548_108985549insC	ENSP00000339527:p.Ser505fs		109092241	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Frame_Shift_Ins	INS	ENST00000343882.6	37	CCDS5068.1	INS	52	Broad																																																																																				0.554	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			Frame_Shift_Ins
