#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DEDD2	162989	broad.mit.edu	37	19	42719342	42719342	+	Missense_Mutation	SNP	G	G	A	rs139696001	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:42719342G>A	ENST00000595337.1	-	3	478	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DEDD2_ENST00000596251.1_Missense_Mutation_p.R131C|DEDD2_ENST00000598727.1_Missense_Mutation_p.R131C|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R131C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	131					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACGGCGACGGCAGCTACCC	0.552																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(391-393)Cgt>Tgt		death effector domain containing 2		G	CYS/ARG	0,4406		0,0,2203	81.0	74.0	76.0		391	2.6	0.9	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DEDD2	NM_133328.2	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	131/327	42719342	3,13003	2203	4300	6503	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42719342G>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.391C>T	19.37:g.42719342G>A	ENSP00000470082:p.Arg131Cys					DEDD2_ENST00000598727.1_Missense_Mutation_p.R131C|DEDD2_ENST00000336034.4_Missense_Mutation_p.R131C|DEDD2_ENST00000596251.1_Missense_Mutation_p.R131C|DEDD2_ENST00000593804.1_5'UTR	p.R131C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			3	478	-		Prostate(69;0.0704)	131					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.391C>T	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612435	0.46631	0.0	3.49E-4	ENSG00000160570	ENST00000336034	.	.	.	4.88	2.6	0.31112	.	1.130820	0.06536	N	0.742319	T	0.49081	0.1536	N	0.08118	0	0.39630	D	0.97016	D;D	0.71674	0.998;0.997	P;P	0.59487	0.858;0.725	T	0.36212	-0.9757	9	0.46703	T	0.11	-0.2647	9.1493	0.36953	0.0:0.1603:0.6735:0.1662	.	131;131	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	C	131	.	ENSP00000336972:R131C	R	-	1	0	DEDD2	47411182	0.895000	0.30542	0.942000	0.38095	0.977000	0.68977	2.143000	0.42187	0.512000	0.28257	0.650000	0.86243	CGT		0.552	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		32	140	0	0	0	1	0	32	140				
UBE3A	7337	broad.mit.edu	37	15	25616254	25616254	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:25616254C>T	ENST00000397954.2	-	4	1075	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	UBE3A_ENST00000232165.3_Missense_Mutation_p.R356Q|UBE3A_ENST00000438097.1_Missense_Mutation_p.R336Q|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.R336Q			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	359				R -> RNLVNEFNSR (in Ref. 7; AA sequence). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R359Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CACTAGATTTCGACTGTTAAA	0.383																																						ENST00000232165.3																			1	Substitution - Missense(1)	p.R359Q(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1066-1068)cGa>cAa		ubiquitin protein ligase E3A							111.0	107.0	108.0					15																	25616254		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616254C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1076G>A	15.37:g.25616254C>T	ENSP00000381045:p.Arg359Gln					SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000566215.1_Missense_Mutation_p.R336Q|UBE3A_ENST00000397954.2_Missense_Mutation_p.R359Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.R336Q	p.R356Q	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1723	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	359					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1067G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663848	0.29515	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17691	2.26;2.26;2.27;2.27	5.73	5.73	0.89815	.	0.120739	0.56097	D	0.000031	T	0.11281	0.0275	N	0.22421	0.69	0.58432	D	0.999995	P;B	0.46020	0.871;0.226	B;B	0.34180	0.177;0.048	T	0.18713	-1.0328	10	0.12103	T	0.63	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	356;359	Q05086-3;Q05086	.;UBE3A_HUMAN	Q	356;356;359;336;336	ENSP00000232165:R356Q;ENSP00000381045:R359Q;ENSP00000411258:R336Q;ENSP00000401265:R336Q	ENSP00000232165:R356Q	R	-	2	0	UBE3A	23167347	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.956000	0.70315	2.718000	0.92993	0.585000	0.79938	CGA		0.383	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		4	141	0	0	0	1	0	4	141				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	11	0	0	0	1	0	4	11				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		4	64	0	0	0	1	0	4	64				
SCN10A	6336	broad.mit.edu	37	3	38753746	38753746	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:38753746C>T	ENST00000449082.2	-	22	3994	c.3995G>A	c.(3994-3996)tGc>tAc	p.C1332Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1332					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGAATCTTGCAGTCAGACTT	0.448																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3994-3996)tGc>tAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						129.0	124.0	126.0					3																	38753746		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38753746C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3995G>A	3.37:g.38753746C>T	ENSP00000390600:p.Cys1332Tyr						p.C1332Y	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	22	3994	-			1332					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3995G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886395	0.72410	.	.	ENSG00000185313	ENST00000449082	D	0.96856	-4.15	4.78	4.78	0.61160	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	H	0.99415	4.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98808	1.0742	10	0.87932	D	0	.	18.0105	0.89221	0.0:1.0:0.0:0.0	.	1332	Q9Y5Y9	SCNAA_HUMAN	Y	1332	ENSP00000390600:C1332Y	ENSP00000390600:C1332Y	C	-	2	0	SCN10A	38728750	1.000000	0.71417	0.159000	0.22649	0.003000	0.03518	7.651000	0.83577	2.473000	0.83533	0.555000	0.69702	TGC		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		13	140	0	0	0	1	0	13	140				
KIAA1683	80726	broad.mit.edu	37	19	18378298	18378298	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:18378298C>T	ENST00000600328.3	-	3	245	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KIAA1683_ENST00000392413.4_Missense_Mutation_p.G18S|KIAA1683_ENST00000600359.3_5'UTR			Q9H0B3	K1683_HUMAN	KIAA1683	18						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTAGGCGGCCGGCTGCATTG	0.632																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(52-54)Ggc>Agc		KIAA1683							69.0	76.0	74.0					19																	18378298		2203	4298	6501	SO:0001583	missense	80726					mitochondrion		g.chr19:18378298C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.52G>A	19.37:g.18378298C>T	ENSP00000470780:p.Gly18Ser					KIAA1683_ENST00000600359.2_5'UTR|KIAA1683_ENST00000600328.2_Missense_Mutation_p.G18S	p.G18S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			3	267	-			18					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.52G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	1.412	-0.575124	0.03882	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000358422;ENST00000411671	T;T	0.04275	3.66;3.69	2.58	-0.883	0.10600	.	.	.	.	.	T	0.02267	0.0070	N	0.12182	0.205	0.19300	N	0.99998	B;B	0.24920	0.06;0.114	B;B	0.11329	0.003;0.006	T	0.45702	-0.9243	9	0.32370	T	0.25	-12.3427	2.1327	0.03754	0.2463:0.3264:0.0:0.4273	.	18;18	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	18;18;17;18	ENSP00000376213:G18S;ENSP00000352774:G18S	ENSP00000351198:G17S	G	-	1	0	KIAA1683	18239298	0.000000	0.05858	0.021000	0.16686	0.013000	0.08279	-1.018000	0.03626	-0.274000	0.09232	0.313000	0.20887	GGC		0.632	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			7	255	0	0	0	1	0	7	255				
LHFPL2	10184	broad.mit.edu	37	5	77784960	77784960	+	Silent	SNP	G	G	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:77784960G>T	ENST00000515007.2	-	3	757	c.447C>A	c.(445-447)ctC>ctA	p.L149L	LHFPL2_ENST00000380345.2_Silent_p.L149L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	149						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GTATCAAACCGAGGATAAGGA	0.458																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(445-447)ctC>ctA		lipoma HMGIC fusion partner-like 2							61.0	67.0	65.0					5																	77784960		2203	4300	6503	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77784960G>T	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.447C>A	5.37:g.77784960G>T						LHFPL2_ENST00000515007.2_Silent_p.L149L	p.L149L	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	5	1122	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	149					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.447C>A	CCDS4042.1																																																																																				0.458	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		4	116	1	0	0.150653	1	0.153207	4	116				
CD8B	926	broad.mit.edu	37	2	87085254	87085254	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:87085254T>C	ENST00000390655.6	-	2	387	c.329A>G	c.(328-330)gAc>gGc	p.D110G	CD8B_ENST00000393759.2_Missense_Mutation_p.D110G|CD8B_ENST00000349455.3_Missense_Mutation_p.D110G|CD8B_ENST00000393761.2_Missense_Mutation_p.D110G|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.D110G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	110	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GATGCCACTGTCTTCCGGCTT	0.532																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(328-330)gAc>gGc		CD8b molecule							123.0	113.0	117.0					2																	87085254		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085254T>C		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.329A>G	2.37:g.87085254T>C	ENSP00000375070:p.Asp110Gly					CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.D110G|CD8B_ENST00000349455.3_Missense_Mutation_p.D110G|CD8B_ENST00000393761.2_Missense_Mutation_p.D110G|CD8B_ENST00000331469.2_Missense_Mutation_p.D110G	p.D110G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	387	-			110			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.329A>G	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315334	0.40996	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94192	0.8136	M	0.92555	3.32	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94700	0.7882	10	0.87932	D	0	-30.4039	10.294	0.43613	0.0:0.0:0.0:1.0	.	110;110;110;110;110;110	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	G	110	ENSP00000377358:D110G;ENSP00000377356:D110G;ENSP00000340592:D110G;ENSP00000331172:D110G;ENSP00000375070:D110G	ENSP00000331172:D110G	D	-	2	0	CD8B	86938765	1.000000	0.71417	0.897000	0.35233	0.030000	0.12068	3.430000	0.52807	1.698000	0.51180	0.454000	0.30748	GAC		0.532	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		11	151	0	0	0	1	0	11	151				
CDKN1A	1026	broad.mit.edu	37	6	36651975	36651975	+	Missense_Mutation	SNP	G	G	A	rs376481017		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:36651975G>A	ENST00000405375.1	+	2	332	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	33					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTGAGCCGCGACTGTGATGC	0.647																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(97-99)Gac>Aac		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							41.0	38.0	39.0					6																	36651975		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651975G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.97G>A	6.37:g.36651975G>A	ENSP00000384849:p.Asp33Asn					CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N	p.D33N	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			2	332	+			33					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.97G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757731	0.69648	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.06	5.06	0.68205	.	0.000000	0.56097	D	0.000030	D	0.89584	0.6757	M	0.80616	2.505	0.45554	D	0.998507	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.978	D	0.87010	0.2122	10	0.23302	T	0.38	-38.2672	13.8081	0.63246	0.0:0.0:1.0:0.0	.	67;33;33	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	N	67;33;33;33	ENSP00000409259:D67N;ENSP00000244741:D33N;ENSP00000384849:D33N;ENSP00000362815:D33N	ENSP00000244741:D33N	D	+	1	0	CDKN1A	36759953	1.000000	0.71417	0.907000	0.35723	0.062000	0.15995	6.535000	0.73838	2.642000	0.89623	0.561000	0.74099	GAC		0.647	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		4	62	0	0	0	1	0	4	62				
FOXA1	3169	broad.mit.edu	37	14	38061192	38061192	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:38061192A>C	ENST00000250448.2	-	2	858	c.797T>G	c.(796-798)tTc>tGc	p.F266C	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(796-798)tTc>tGc		forkhead box A1							10.0	11.0	10.0					14																	38061192		2193	4281	6474	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061192A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.797T>G	14.37:g.38061192A>C	ENSP00000250448:p.Phe266Cys					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233C	p.F266C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	858	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		266					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.797T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227626	0.79576	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.93953	-3.32;-3.32	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94012	0.7285	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	266	P55317	FOXA1_HUMAN	C	266;233	ENSP00000250448:F266C;ENSP00000440178:F233C	ENSP00000250448:F266C	F	-	2	0	FOXA1	37130943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.885000	0.92439	1.648000	0.50643	0.329000	0.21502	TTC		0.726	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			8	31	0	0	0	1	0	8	31				
SEC14L1	6397	broad.mit.edu	37	17	75210053	75210053	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:75210053C>T	ENST00000413679.2	+	17	2399	c.2096C>T	c.(2095-2097)gCc>gTc	p.A699V	SEC14L1_ENST00000443798.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000585618.1_Missense_Mutation_p.A699V|SEC14L1_ENST00000392476.2_Missense_Mutation_p.A699V|SEC14L1_ENST00000431431.2_Missense_Mutation_p.A665V|SEC14L1_ENST00000591437.1_Missense_Mutation_p.A665V|SEC14L1_ENST00000430767.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000436233.4_Missense_Mutation_p.A699V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	699					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CAGCTGAGTGCCGCCACCACC	0.662																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(2095-2097)gCc>gTc		SEC14-like 1 (S. cerevisiae)							64.0	58.0	60.0					17																	75210053		2202	4300	6502	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75210053C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.2096C>T	17.37:g.75210053C>T	ENSP00000394716:p.Ala699Val					SEC14L1_ENST00000430767.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000585618.1_Missense_Mutation_p.A699V|SEC14L1_ENST00000392476.2_Missense_Mutation_p.A699V|SEC14L1_ENST00000431431.2_Missense_Mutation_p.A665V|SEC14L1_ENST00000436233.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000443798.4_Missense_Mutation_p.A699V|SEC14L1_ENST00000591437.1_Missense_Mutation_p.A665V	p.A699V	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			17	2399	+			699					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.2096C>T	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382528	0.82792	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.71341	-0.45;-0.45;-0.45;-0.45;-0.45;-0.56	4.61	3.64	0.41730	.	0.059359	0.64402	N	0.000003	T	0.57946	0.2088	L	0.38838	1.175	0.53005	D	0.999964	B;B	0.26602	0.154;0.096	B;B	0.20955	0.032;0.014	T	0.54456	-0.8291	10	0.33940	T	0.23	-35.3795	11.458	0.50193	0.0:0.913:0.0:0.087	.	699;699	Q92503-2;Q92503	.;S14L1_HUMAN	V	699;699;699;699;699;665	ENSP00000376268:A699V;ENSP00000406030:A699V;ENSP00000390392:A699V;ENSP00000408169:A699V;ENSP00000394716:A699V;ENSP00000389838:A665V	ENSP00000376268:A699V	A	+	2	0	SEC14L1	72721648	1.000000	0.71417	0.921000	0.36526	0.783000	0.44284	5.393000	0.66279	1.129000	0.42072	0.462000	0.41574	GCC		0.662	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		4	154	0	0	0	1	0	4	154				
IGHG2	3501	broad.mit.edu	37	14	106110165	106110165	+	RNA	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:106110165C>T	ENST00000390545.2	-	0	452							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGAACTGGACCTCGGGGTCTT	0.602																																						ENST00000390545.2																			0																				174.0	155.0	161.0					14																	106110165		2161	4248	6409			0							g.chr14:106110165C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110165C>T														0	452	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.602	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		5	228	0	0	0	1	0	5	228				
CLVS2	134829	broad.mit.edu	37	6	123319141	123319141	+	Silent	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:123319141G>A	ENST00000275162.5	+	2	1554	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	73					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.A73A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCTCCTGGCGCAGTACTTTG	0.562																																						ENST00000275162.4																			1	Substitution - coding silent(1)	p.A73A(1)	pancreas(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(217-219)gcG>gcA		clavesin 2							142.0	125.0	131.0					6																	123319141		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319141G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.219G>A	6.37:g.123319141G>A						CLVS2_ENST00000368438.1_Intron	p.A73A	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1554	+			73					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.219G>A	CCDS34525.1																																																																																				0.562	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		37	153	0	0	0	1	0	37	153				
PPP1R26	9858	broad.mit.edu	37	9	138379680	138379680	+	Silent	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr9:138379680G>A	ENST00000356818.2	+	4	3873	c.3324G>A	c.(3322-3324)ggG>ggA	p.G1108G	PPP1R26_ENST00000605286.1_Silent_p.G1108G|PPP1R26_ENST00000605660.1_Silent_p.G1108G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G1108G|PPP1R26_ENST00000604351.1_Silent_p.G1108G	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1108					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCCACCTGGGGCTGCCTCTGC	0.672																																						ENST00000356818.2																			0											c.(3322-3324)ggG>ggA		protein phosphatase 1, regulatory subunit 26							9.0	12.0	11.0					9																	138379680		2018	4088	6106	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379680G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3324G>A	9.37:g.138379680G>A						PPP1R26_ENST00000605286.1_Silent_p.G1108G|PPP1R26_ENST00000604351.1_Silent_p.G1108G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G1108G|PPP1R26_ENST00000605660.1_Silent_p.G1108G	p.G1108G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3873	+			1108					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.3324G>A	CCDS6988.1																																																																																				0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		5	25	0	0	0	1	0	5	25				
SNW1	22938	broad.mit.edu	37	14	78205133	78205133	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:78205133G>A	ENST00000261531.7	-	5	583	c.521C>T	c.(520-522)gCt>gTt	p.A174V	SNW1_ENST00000554775.1_Missense_Mutation_p.A12V|SNW1_ENST00000555761.1_Missense_Mutation_p.A174V|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	174	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GATATACTGAGCAGGAGCCAA	0.438																																						ENST00000261531.7																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(520-522)gCt>gTt		SNW domain containing 1							69.0	68.0	68.0					14																	78205133		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78205133G>A	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.521C>T	14.37:g.78205133G>A	ENSP00000261531:p.Ala174Val					SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.A174V|SNW1_ENST00000554775.1_Missense_Mutation_p.A12V	p.A174V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	5	583	-			174			SNW.		A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.521C>T	CCDS9867.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611211	0.87258	.	.	ENSG00000100603	ENST00000261531;ENST00000554775;ENST00000555761;ENST00000416259	.	.	.	5.81	4.91	0.64330	.	0.044636	0.85682	D	0.000000	T	0.66645	0.2810	L	0.56340	1.77	0.80722	D	1	P;P	0.50369	0.652;0.934	P;P	0.57152	0.55;0.814	T	0.63866	-0.6540	9	0.38643	T	0.18	.	15.2988	0.73931	0.0683:0.0:0.9317:0.0	.	174;174	G3V3A4;Q13573	.;SNW1_HUMAN	V	174;12;174;174	.	ENSP00000261531:A174V	A	-	2	0	SNW1	77274886	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.375000	0.97178	2.758000	0.94735	0.460000	0.39030	GCT		0.438	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		5	45	0	0	0	1	0	5	45				
OR4A16	81327	broad.mit.edu	37	11	55111206	55111206	+	Missense_Mutation	SNP	G	G	A	rs373084312		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:55111206G>A	ENST00000314721.2	+	1	580	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACTCTGTCTGTGACATGTAC	0.443																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(529-531)tGt>tAt		olfactory receptor, family 4, subfamily A, member 16							249.0	215.0	226.0					11																	55111206		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111206G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.530G>A	11.37:g.55111206G>A	ENSP00000325128:p.Cys177Tyr						p.C177Y	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	580	+			177					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.530G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	10.48	1.363247	0.24684	.	.	ENSG00000181961	ENST00000314721	T	0.61980	0.06	2.54	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.85539	0.5720	H	0.98487	4.245	0.32212	N	0.576453	D	0.89917	1.0	D	0.97110	1.0	D	0.87659	0.2533	9	0.87932	D	0	.	10.7712	0.46323	0.0:0.0:1.0:0.0	.	177	Q8NH70	O4A16_HUMAN	Y	177	ENSP00000325128:C177Y	ENSP00000325128:C177Y	C	+	2	0	OR4A16	54867782	1.000000	0.71417	0.945000	0.38365	0.081000	0.17604	7.859000	0.86982	1.421000	0.47157	0.423000	0.28283	TGT		0.443	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		9	166	0	0	0	1	0	9	166				
GUCY1A3	2982	broad.mit.edu	37	4	156643250	156643250	+	Missense_Mutation	SNP	C	C	T	rs377038861		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:156643250C>T	ENST00000296518.7	+	9	1986	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593C			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	593	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.R593S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAAAATGCCCCGTTACTGTCT	0.423																																						ENST00000296518.7																			1	Substitution - Missense(1)	p.R593S(1)	lung(1)	central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1777-1779)Cgt>Tgt		guanylate cyclase 1, soluble, alpha 3		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	236.0	226.0	230.0		1777,1777,1777,1777,1072,1777	5.8	1.0	4		230	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GUCY1A3	NM_000856.4,NM_001130682.1,NM_001130683.2,NM_001130684.1,NM_001130685.1,NM_001130687.1	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	593/691,593/691,593/691,593/691,358/456,593/625	156643250	1,13005	2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156643250C>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1777C>T	4.37:g.156643250C>T	ENSP00000296518:p.Arg593Cys					GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593C	p.R593C			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	1986	+	all_hematologic(180;0.24)	Renal(120;0.0854)	593			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.1777C>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427362	0.83667	0.0	1.16E-4	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.82	5.82	0.92795	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.94703	0.8291	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96170	0.9122	10	0.87932	D	0	.	14.8816	0.70537	0.1434:0.8566:0.0:0.0	.	593;593	B3KU69;Q02108	.;GCYA3_HUMAN	C	593;593;593;593;335;593;593	ENSP00000424361:R593C;ENSP00000421493:R593C;ENSP00000426968:R593C;ENSP00000412201:R593C;ENSP00000377418:R335C;ENSP00000296518:R593C;ENSP00000426040:R593C	ENSP00000296518:R593C	R	+	1	0	GUCY1A3	156862700	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	4.747000	0.62141	2.752000	0.94435	0.585000	0.79938	CGT		0.423	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			5	203	0	0	0	1	0	5	203				
STAT6	6778	broad.mit.edu	37	12	57493835	57493835	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:57493835C>A	ENST00000300134.3	-	14	1876	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	STAT6_ENST00000543873.2_Missense_Mutation_p.W517C|STAT6_ENST00000538913.2_Missense_Mutation_p.W407C|STAT6_ENST00000537215.2_Missense_Mutation_p.W407C|STAT6_ENST00000454075.3_Missense_Mutation_p.W517C|STAT6_ENST00000556155.1_Missense_Mutation_p.W517C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CACCATCAAACCACTGCCAAA	0.612																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(1549-1551)tgG>tgT		signal transducer and activator of transcription 6, interleukin-4 induced							81.0	63.0	69.0					12																	57493835		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57493835C>A	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1551G>T	12.37:g.57493835C>A	ENSP00000300134:p.Trp517Cys					STAT6_ENST00000543873.2_Missense_Mutation_p.W517C|STAT6_ENST00000538913.2_Missense_Mutation_p.W407C|STAT6_ENST00000537215.2_Missense_Mutation_p.W407C|STAT6_ENST00000556155.1_Missense_Mutation_p.W517C|STAT6_ENST00000454075.3_Missense_Mutation_p.W517C	p.W517C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN			14	1876	-			517			SH2.		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.1551G>T	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.295523|4.295523	0.81025|0.81025	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000553533|ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555375	.|D;D;D;D;D;D;D	.|0.98602	.|-3.71;-3.71;-3.71;-3.71;-3.71;-3.71;-5.02	4.92|4.92	4.92|4.92	0.64577|0.64577	.|STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);SH2 motif (1);EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99026|0.99026	0.9667|0.9667	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.996;1.0	D|D	0.99433|0.99433	1.0936|1.0936	5|10	.|0.87932	.|D	.|0	-11.0965|-11.0965	15.645|15.645	0.77042|0.77042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|517;517	.|A8K4S9;P42226	.|.;STAT6_HUMAN	F|C	236|517;407;407;517;517;407;517;407;517;83	.|ENSP00000300134:W517C;ENSP00000445409:W407C;ENSP00000438451:W517C;ENSP00000451742:W517C;ENSP00000444530:W407C;ENSP00000401486:W517C;ENSP00000450921:W83C	.|ENSP00000300134:W517C	V|W	-|-	1|3	0|0	STAT6|STAT6	55780102|55780102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.595000|7.595000	0.82710|0.82710	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	GTT|TGG		0.612	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		3	24	1	0	0.115264	1	0.119239	3	24				
EPB41L3	23136	broad.mit.edu	37	18	5416007	5416007	+	Missense_Mutation	SNP	G	G	A	rs141321874	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr18:5416007G>A	ENST00000341928.2	-	13	2217	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.P626L|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	626	Spectrin--actin-binding. {ECO:0000255}.				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)			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						TGAGCGGATCGGGAGGTAATG	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		21436	0.0		0.002	False		,,,				2504	0.0					ENST00000341928.2																			0				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						c.(1876-1878)cCg>cTg		erythrocyte membrane protein band 4.1-like 3		G	LEU/PRO	0,4406		0,0,2203	198.0	140.0	159.0		1877	5.5	1.0	18	dbSNP_134	159	3,8597	3.0+/-9.4	0,3,4297	yes	missense	EPB41L3	NM_012307.2	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	626/1088	5416007	3,13003	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416007G>A	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.1877C>T	18.37:g.5416007G>A	ENSP00000343158:p.Pro626Leu					EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P626L|EPB41L3_ENST00000542652.2_Intron	p.P626L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2217	-			626			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1877C>T	CCDS11838.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	26.6	4.757577	0.89843	0.0	3.49E-4	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82344	-1.6;-1.6	5.48	5.48	0.80851	.	0.065939	0.64402	D	0.000009	D	0.89594	0.6760	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	D	0.87585	0.2487	10	0.31617	T	0.26	.	19.3527	0.94395	0.0:0.0:1.0:0.0	.	626	Q9Y2J2	E41L3_HUMAN	L	626	ENSP00000343158:P626L;ENSP00000341138:P626L	ENSP00000343158:P626L	P	-	2	0	EPB41L3	5406007	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	9.687000	0.98667	2.567000	0.86603	0.563000	0.77884	CCG		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		26	137	0	0	0	1	0	26	137				
HERC1	8925	broad.mit.edu	37	15	64047509	64047509	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047509A>G	ENST00000443617.2	-	6	1636	c.1549T>C	c.(1549-1551)Tca>Cca	p.S517P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATCCAGCTGACACACAAACA	0.388																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1549-1551)Tca>Cca		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							85.0	81.0	82.0					15																	64047509		1989	4159	6148	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64047509A>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1549T>C	15.37:g.64047509A>G	ENSP00000390158:p.Ser517Pro						p.S517P	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			6	1636	-			517					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1549T>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	32	5.188980	0.94923	.	.	ENSG00000103657	ENST00000443617	D	0.86497	-2.13	5.97	5.97	0.96955	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000007	D	0.95749	0.8617	H	0.95982	3.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.993;0.996	D	0.96943	0.9689	10	0.72032	D	0.01	.	16.1343	0.81471	1.0:0.0:0.0:0.0	.	517;517	C9JUT5;Q15751	.;HERC1_HUMAN	P	517	ENSP00000390158:S517P	ENSP00000390158:S517P	S	-	1	0	HERC1	61834562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	TCA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	24	0	0	0	1	0	6	24				
PLEKHG1	57480	broad.mit.edu	37	6	151140892	151140892	+	Missense_Mutation	SNP	C	C	T	rs144621364	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:151140892C>T	ENST00000358517.2	+	12	1601	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R464W			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	464							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCTCCATATCGGCTGAGAAG	0.433																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1390-1392)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							127.0	124.0	125.0					6																	151140892		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151140892C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1390C>T	6.37:g.151140892C>T	ENSP00000351318:p.Arg464Trp					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R464W	p.R464W	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	13	1702	+			464					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.1390C>T	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145573	0.57044	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.64438	-0.1;-0.1	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.70275	2.135	0.54753	D	0.99998	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.74023	0.853;0.982;0.982	T	0.75263	-0.3379	10	0.87932	D	0	.	12.2789	0.54753	0.1806:0.8194:0.0:0.0	.	271;464;464	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	W	464	ENSP00000356297:R464W;ENSP00000351318:R464W	ENSP00000351318:R464W	R	+	1	2	PLEKHG1	151182585	1.000000	0.71417	0.992000	0.48379	0.476000	0.33039	3.439000	0.52878	2.643000	0.89663	0.549000	0.68633	CGG		0.433	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			8	171	0	0	0	1	0	8	171				
C9orf89	84270	broad.mit.edu	37	9	95872853	95872853	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr9:95872853C>T	ENST00000375464.2	+	3	282	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	52	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCCTCAGTTCCGGAACCCCAA	0.667																																						ENST00000375464.2																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(154-156)Cgg>Tgg		chromosome 9 open reading frame 89							83.0	84.0	84.0					9																	95872853		2203	4300	6503	SO:0001583	missense	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95872853C>T	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.154C>T	9.37:g.95872853C>T	ENSP00000364613:p.Arg52Trp					C9orf89_ENST00000488630.1_3'UTR	p.R52W	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN			3	282	+			52			CARD.		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	ENST00000375464.2	37	c.154C>T	CCDS6702.2	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007451	0.54361	.	.	ENSG00000165233	ENST00000375464	T	0.16324	2.35	4.8	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	.	.	.	0.47778	D	0.99951	D	0.89917	1.0	D	0.71414	0.973	T	0.25916	-1.0118	9	0.87932	D	0	.	11.802	0.52133	0.1761:0.8238:0.0:0.0	.	52	Q96LW7-2	.	W	52	ENSP00000364613:R52W	ENSP00000364613:R52W	R	+	1	2	C9orf89	94912674	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	0.503000	0.22610	2.386000	0.81285	0.491000	0.48974	CGG		0.667	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		4	116	0	0	0	1	0	4	116				
MUC16	94025	broad.mit.edu	37	19	9070676	9070676	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:9070676C>A	ENST00000397910.4	-	3	16973	c.16770G>T	c.(16768-16770)caG>caT	p.Q5590H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5592	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCCCTCCCTGGAAAAGTG	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16768-16770)caG>caT		mucin 16, cell surface associated							157.0	145.0	149.0					19																	9070676		1979	4159	6138	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070676C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16770G>T	19.37:g.9070676C>A	ENSP00000381008:p.Gln5590His						p.Q5590H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16973	-			5592			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16770G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.223	-0.377829	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.23552	1.9	1.67	0.609	0.17575	.	.	.	.	.	T	0.11196	0.0273	N	0.19112	0.55	.	.	.	P	0.41784	0.762	B	0.29785	0.107	T	0.18272	-1.0342	8	0.87932	D	0	.	3.8634	0.09005	0.0:0.7675:0.0:0.2325	.	5590	B5ME49	.	H	5590	ENSP00000381008:Q5590H	ENSP00000381008:Q5590H	Q	-	3	2	MUC16	8931676	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.128000	0.10531	0.270000	0.21984	0.299000	0.19835	CAG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	177	1	0	1.49906e-05	1	1.69705e-05	13	177				
NOX4	50507	broad.mit.edu	37	11	89165957	89165957	+	Silent	SNP	T	T	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:89165957T>G	ENST00000263317.4	-	7	781	c.543A>C	c.(541-543)gcA>gcC	p.A181A	NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Silent_p.A181A|NOX4_ENST00000528341.1_Silent_p.A156A|NOX4_ENST00000535633.1_Silent_p.A157A|NOX4_ENST00000424319.1_Silent_p.A157A|NOX4_ENST00000532825.1_Silent_p.A157A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Silent_p.A202A|NOX4_ENST00000343727.5_Silent_p.A157A|NOX4_ENST00000542487.1_Silent_p.A157A|NOX4_ENST00000527626.1_Silent_p.A15A|NOX4_ENST00000527956.1_Silent_p.A157A|NOX4_ENST00000534731.1_Silent_p.A181A			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	181	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTACCTTATTGCATATGTAG	0.368																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(469-471)gcA>gcC		NADPH oxidase 4							82.0	77.0	78.0					11																	89165957		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89165957T>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.543A>C	11.37:g.89165957T>G						NOX4_ENST00000527626.1_Silent_p.A15A|NOX4_ENST00000263317.4_Silent_p.A181A|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.A202A|NOX4_ENST00000528341.1_Silent_p.A156A|NOX4_ENST00000525196.1_Silent_p.A181A|NOX4_ENST00000424319.1_Silent_p.A157A|NOX4_ENST00000532825.1_Silent_p.A157A|NOX4_ENST00000542487.1_Silent_p.A157A|NOX4_ENST00000527956.1_Silent_p.A157A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Silent_p.A181A|NOX4_ENST00000343727.5_Silent_p.A157A	p.A157A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			7	781	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	181			Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.471A>C	CCDS8285.1																																																																																				0.368	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		9	34	0	0	0	1	0	9	34				
ITGA3	3675	broad.mit.edu	37	17	48145589	48145589	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:48145589G>T	ENST00000320031.8	+	4	914	c.584G>T	c.(583-585)gGc>gTc	p.G195V	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G195V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	195					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTGGAGACGGGCATGTGCCAG	0.592																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(583-585)gGc>gTc		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							119.0	102.0	108.0					17																	48145589		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145589G>T	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.584G>T	17.37:g.48145589G>T	ENSP00000315190:p.Gly195Val					ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G195V	p.G195V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			4	914	+			195					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.584G>T	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447848	0.84101	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	D;D	0.92595	-3.07;-3.07	5.36	5.36	0.76844	.	0.049143	0.85682	D	0.000000	D	0.96262	0.8781	M	0.89095	3.005	0.80722	D	1	D;D	0.64830	0.994;0.968	P;B	0.60886	0.88;0.436	D	0.96926	0.9677	10	0.87932	D	0	.	17.8421	0.88718	0.0:0.0:1.0:0.0	.	195;195	P26006-1;P26006	.;ITA3_HUMAN	V	195;181;195	ENSP00000007722:G195V;ENSP00000315190:G195V	ENSP00000007722:G195V	G	+	2	0	ITGA3	45500588	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.465000	0.97660	2.486000	0.83907	0.650000	0.86243	GGC		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		5	134	1	0	0.217242	1	0.217242	5	134				
DSCAML1	57453	broad.mit.edu	37	11	117374656	117374656	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:117374656G>A	ENST00000321322.6	-	11	2444	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	755	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGACGTGGCGGATCAGCAGC	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2443-2445)Cgc>Tgc		Down syndrome cell adhesion molecule like 1							110.0	91.0	97.0					11																	117374656		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117374656G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2443C>T	11.37:g.117374656G>A	ENSP00000315465:p.Arg815Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	p.R815C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2444	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	755			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2443C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192049	0.78902	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82944	0.5147	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.86461	0.1779	9	0.66056	D	0.02	.	16.9369	0.86205	0.0:0.0:1.0:0.0	.	755	Q8TD84	DSCL1_HUMAN	C	545;815;522	ENSP00000434335:R545C;ENSP00000315465:R815C	ENSP00000315465:R815C	R	-	1	0	DSCAML1	116879866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.560000	0.53763	2.237000	0.73441	0.462000	0.41574	CGC		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	124	0	0	0	1	0	7	124				
SORCS1	114815	broad.mit.edu	37	10	108431016	108431016	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr10:108431016C>A	ENST00000263054.6	-	16	2175	c.2168G>T	c.(2167-2169)tGc>tTc	p.C723F	SORCS1_ENST00000369698.1_Missense_Mutation_p.C258F|SORCS1_ENST00000344440.6_Missense_Mutation_p.C723F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	723					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCCTCAGTGCAGACACAGGG	0.418																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2167-2169)tGc>tTc		sortilin-related VPS10 domain containing receptor 1							206.0	179.0	188.0					10																	108431016		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431016C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2168G>T	10.37:g.108431016C>A	ENSP00000263054:p.Cys723Phe					SORCS1_ENST00000369698.1_Missense_Mutation_p.C258F|SORCS1_ENST00000344440.6_Missense_Mutation_p.C723F	p.C723F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2175	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	723					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2168G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468127	0.84533	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	D;D;D	0.84589	-1.87;-1.84;-1.86	5.41	5.41	0.78517	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.94298	0.8168	M	0.91561	3.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0	D	0.94819	0.7985	9	.	.	.	-19.785	19.636	0.95733	0.0:1.0:0.0:0.0	.	723;723;723;723;723	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	F	258;723;723	ENSP00000358712:C258F;ENSP00000263054:C723F;ENSP00000345964:C723F	.	C	-	2	0	SORCS1	108421006	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.442000	0.80503	2.720000	0.93068	0.650000	0.86243	TGC		0.418	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		11	78	1	0	3.86212e-05	1	4.13799e-05	11	78				
MUC5B	727897	broad.mit.edu	37	11	1269965	1269965	+	Missense_Mutation	SNP	C	C	A	rs201943411		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:1269965C>A	ENST00000529681.1	+	31	11913	c.11855C>A	c.(11854-11856)aCt>aAt	p.T3952N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T3955N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3952	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accacggccactacgatcacg	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11863-11865)aCt>aAt		mucin 5B, oligomeric mucus/gel-forming							110.0	139.0	130.0					11																	1269965		1981	3993	5974	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269965C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11855C>A	11.37:g.1269965C>A	ENSP00000436812:p.Thr3952Asn					MUC5B_ENST00000529681.1_Missense_Mutation_p.T3952N|RP11-532E4.2_ENST00000532061.2_RNA	p.T3955N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11922	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3952			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11864C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	4.824	0.153222	0.09185	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20069	2.1;2.29	2.7	1.75	0.24633	.	.	.	.	.	T	0.38532	0.1044	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.60789	0.879	T	0.12630	-1.0540	9	0.87932	D	0	.	9.0626	0.36444	0.0:0.8761:0.0:0.1239	.	3955	E9PBJ0	.	N	3952;3955;3896	ENSP00000436812:T3952N;ENSP00000415793:T3955N	ENSP00000343037:T3896N	T	+	2	0	MUC5B	1226541	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.026000	0.13599	0.429000	0.26202	0.298000	0.19748	ACT		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	13	1	0	0.004672	1	0.00491789	3	13				
DHODH	1723	broad.mit.edu	37	16	72057375	72057375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:72057375C>T	ENST00000219240.4	+	8	997	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DHODH_ENST00000572887.1_Intron	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	326					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CTCTGTAGGCCGAGTTCCCAT	0.577																																						ENST00000219240.4																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(976-978)Cga>Tga		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						66.0	74.0	72.0					16																	72057375		2074	4216	6290	SO:0001587	stop_gained	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72057375C>T		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.976C>T	16.37:g.72057375C>T	ENSP00000219240:p.Arg326*					DHODH_ENST00000572887.1_Intron	p.R326*	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN			8	997	+		Ovarian(137;0.125)	326					A8K8C8|Q6P176	Nonsense_Mutation	SNP	ENST00000219240.4	37	c.976C>T	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926329	0.34002	.	.	ENSG00000102967	ENST00000219240	.	.	.	5.48	0.23	0.15372	.	0.248923	0.45361	D	0.000369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-0.0094	10.0889	0.42434	0.4443:0.4831:0.0726:0.0	.	.	.	.	X	326	.	ENSP00000219240:R326X	R	+	1	2	DHODH	70614876	0.939000	0.31865	0.440000	0.26846	0.332000	0.28634	1.784000	0.38674	0.106000	0.17784	-0.397000	0.06425	CGA		0.577	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		4	106	0	0	0	1	0	4	106				
STK25	10494	broad.mit.edu	37	2	242435894	242435894	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:242435894T>G	ENST00000316586.4	-	11	1509	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	STK25_ENST00000405585.1_Missense_Mutation_p.E310A|STK25_ENST00000543554.1_Missense_Mutation_p.E293A|STK25_ENST00000535007.1_Missense_Mutation_p.E293A|STK25_ENST00000401869.1_Missense_Mutation_p.E387A|STK25_ENST00000405883.3_Missense_Mutation_p.E310A|STK25_ENST00000403346.3_Missense_Mutation_p.E387A|STK25_ENST00000478403.1_5'UTR	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	387					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAAGGCGTTCTCCAGCTCCTC	0.652																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(1159-1161)gAg>gCg		serine/threonine kinase 25							71.0	68.0	69.0					2																	242435894		2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242435894T>G	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1160A>C	2.37:g.242435894T>G	ENSP00000325748:p.Glu387Ala					STK25_ENST00000405883.3_Missense_Mutation_p.E310A|STK25_ENST00000403346.3_Missense_Mutation_p.E387A|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Missense_Mutation_p.E387A|STK25_ENST00000405585.1_Missense_Mutation_p.E310A|STK25_ENST00000543554.1_Missense_Mutation_p.E293A|STK25_ENST00000535007.1_Missense_Mutation_p.E293A	p.E387A	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	11	1509	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	387					A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.1160A>C	CCDS2549.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969151	0.74131	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.76328	2.33	0.80722	D	1	B;B;B	0.33549	0.116;0.417;0.417	B;B;B	0.32465	0.101;0.146;0.146	T	0.48445	-0.9035	10	0.44086	T	0.13	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	313;310;387	B4DVS7;A8K6Z3;O00506	.;.;STK25_HUMAN	A	387;387;387;310;297;310;293;293	ENSP00000325748:E387A;ENSP00000384162:E387A;ENSP00000385687:E387A;ENSP00000384444:E310A;ENSP00000385541:E310A;ENSP00000444886:E293A;ENSP00000446008:E293A	ENSP00000325748:E387A	E	-	2	0	STK25	242084567	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.827000	0.86722	1.957000	0.56846	0.533000	0.62120	GAG		0.652	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		6	70	0	0	0	1	0	6	70				
ODAM	54959	broad.mit.edu	37	4	71063769	71063769	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:71063769G>T	ENST00000396094.2	+	4	318	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	90	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAAATCAGATACCCTTAA	0.517																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.(268-270)caG>caT		odontogenic, ameloblast asssociated							184.0	185.0	184.0					4																	71063769		1901	4118	6019	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71063769G>T	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.270G>T	4.37:g.71063769G>T	ENSP00000379401:p.Gln90His						p.Q90H	NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			4	318	+			90			Gln-rich.		Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.270G>T	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351034	0.24512	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.56275	0.47;0.47	4.39	2.62	0.31277	.	.	.	.	.	T	0.45915	0.1366	L	0.58101	1.795	0.21064	N	0.999792	B	0.21452	0.056	B	0.23150	0.044	T	0.44298	-0.9337	9	0.56958	D	0.05	-0.0213	5.3412	0.15984	0.1052:0.0:0.6948:0.2	.	90	A1E959	ODAM_HUMAN	H	90;76;43	ENSP00000379401:Q90H;ENSP00000426106:Q43H	ENSP00000379401:Q90H	Q	+	3	2	ODAM	71098358	0.736000	0.28164	0.498000	0.27564	0.026000	0.11368	0.775000	0.26689	0.580000	0.29522	0.561000	0.74099	CAG		0.517	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		37	206	1	0	7.63091e-17	1	8.8049e-17	37	206				
NETO2	81831	broad.mit.edu	37	16	47156656	47156656	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:47156656C>A	ENST00000562435.1	-	6	950	c.566G>T	c.(565-567)cGc>cTc	p.R189L	NETO2_ENST00000303155.5_Missense_Mutation_p.R182L|snoU13_ENST00000458876.1_RNA	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	189	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTGACTAGAGCGCACTATTCC	0.428										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(565-567)cGc>cTc		neuropilin (NRP) and tolloid (TLL)-like 2							161.0	132.0	141.0					16																	47156656		2203	4300	6503	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47156656C>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.566G>T	16.37:g.47156656C>A	ENSP00000455169:p.Arg189Leu	HNSCC(25;0.065)				NETO2_ENST00000303155.5_Missense_Mutation_p.R182L	p.R189L	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN			6	950	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	189			CUB 2.		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.566G>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193087	0.78902	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.64	4.69	0.59074	CUB (5);	0.051088	0.85682	N	0.000000	T	0.71921	0.3397	L	0.53249	1.67	0.80722	D	1	P;P;P	0.52842	0.796;0.911;0.956	P;P;P	0.57846	0.617;0.793;0.828	T	0.75230	-0.3391	9	0.66056	D	0.02	.	16.0457	0.80720	0.1352:0.8648:0.0:0.0	.	46;182;189	B7Z4I7;Q32NC3;Q8NC67	.;.;NETO2_HUMAN	L	189	.	ENSP00000306726:R189L	R	-	2	0	NETO2	45714157	1.000000	0.71417	0.663000	0.29738	0.808000	0.45660	4.728000	0.62000	1.378000	0.46305	-0.175000	0.13238	CGC		0.428	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		4	147	1	0	3.59834e-05	1	3.92546e-05	4	147				
TRAT1	50852	broad.mit.edu	37	3	108572512	108572512	+	Missense_Mutation	SNP	G	G	A	rs149418284		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:108572512G>A	ENST00000295756.6	+	6	579	c.349G>A	c.(349-351)Gtt>Att	p.V117I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V80I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	117					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGATCACAGCGTTAAGGGGAA	0.418																																						ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(349-351)Gtt>Att		T cell receptor associated transmembrane adaptor 1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	123.0	111.0	115.0		349	-11.3	0.0	3	dbSNP_134	115	0,8600		0,0,4300	no	missense	TRAT1	NM_016388.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	117/187	108572512	1,13005	2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108572512G>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.349G>A	3.37:g.108572512G>A	ENSP00000295756:p.Val117Ile					TRAT1_ENST00000426646.1_Missense_Mutation_p.V80I	p.V117I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			6	579	+			117					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.349G>A	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146255	0.21288	2.27E-4	0.0	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.41400	1.0;1.0	5.63	-11.3	0.00108	.	3.193790	0.00669	N	0.000637	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21965	-1.0230	10	0.17369	T	0.5	-1.4371	0.9006	0.01273	0.3761:0.1846:0.2738:0.1655	.	80;117	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	I	117;80	ENSP00000295756:V117I;ENSP00000410097:V80I	ENSP00000295756:V117I	V	+	1	0	TRAT1	110055202	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-2.190000	0.01247	-3.154000	0.00230	-1.551000	0.00897	GTT		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		5	98	0	0	0	1	0	5	98				
BCLAF1	9774	broad.mit.edu	37	6	136594276	136594276	+	Silent	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:136594276C>T	ENST00000531224.1	-	7	2154	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCLAF1_ENST00000527536.1_Silent_p.S634S|BCLAF1_ENST00000530767.1_Silent_p.S461S|BCLAF1_ENST00000527759.1_Silent_p.S632S|BCLAF1_ENST00000392348.2_Silent_p.S632S|BCLAF1_ENST00000353331.4_Silent_p.S632S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	634					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S634S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCTGATACGAAGTGAACC	0.388																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - coding silent(1)	p.S634S(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1900-1902)tcG>tcA		BCL2-associated transcription factor 1							234.0	234.0	234.0					6																	136594276		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136594276C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1902G>A	6.37:g.136594276C>T						BCLAF1_ENST00000527759.1_Silent_p.S632S|BCLAF1_ENST00000353331.4_Silent_p.S632S|BCLAF1_ENST00000527536.1_Silent_p.S634S|BCLAF1_ENST00000392348.2_Silent_p.S632S|BCLAF1_ENST00000530767.1_Silent_p.S461S	p.S634S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	7	2154	-	Colorectal(23;0.24)		634					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1902G>A	CCDS5177.1																																																																																				0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	226	0	0	0	1	0	4	226				
PIK3CG	5294	broad.mit.edu	37	7	106509129	106509129	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr7:106509129C>T	ENST00000359195.3	+	2	1433	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R375W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R375W	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	375	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CGTCCTGCCTCGGAACACCGA	0.557																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1123-1125)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							89.0	83.0	85.0					7																	106509129		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509129C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1123C>T	7.37:g.106509129C>T	ENSP00000352121:p.Arg375Trp					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R375W|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R375W	p.R375W	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1433	+			375					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1123C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412520	0.42817	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71222	-0.55;-0.55;-0.55	5.73	5.73	0.89815	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.086923	0.45126	D	0.000391	T	0.73697	0.3620	L	0.50333	1.59	0.54753	D	0.999987	D	0.53312	0.959	P	0.52554	0.702	T	0.75736	-0.3213	10	0.66056	D	0.02	-29.0228	12.9066	0.58156	0.2697:0.7303:0.0:0.0	.	375	P48736	PK3CG_HUMAN	W	375	ENSP00000392258:R375W;ENSP00000419260:R375W;ENSP00000352121:R375W	ENSP00000352121:R375W	R	+	1	2	PIK3CG	106296365	0.852000	0.29690	0.968000	0.41197	0.527000	0.34593	2.486000	0.45259	2.706000	0.92434	0.655000	0.94253	CGG		0.557	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			4	120	0	0	0	1	0	4	120				
ENPP5	59084	broad.mit.edu	37	6	46133138	46133138	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:46133138G>A	ENST00000371383.2	-	4	1252	c.992C>T	c.(991-993)tCa>tTa	p.S331L	ENPP5_ENST00000230565.3_Missense_Mutation_p.S331L|ENPP5_ENST00000492313.1_5'UTR					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAAGTCATCTGACTTATTCTG	0.348																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(991-993)tCa>tTa		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							205.0	176.0	186.0					6																	46133138		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46133138G>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.992C>T	6.37:g.46133138G>A	ENSP00000360436:p.Ser331Leu					ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Missense_Mutation_p.S331L	p.S331L			Q9UJA9	ENPP5_HUMAN			4	1252	-			331						Missense_Mutation	SNP	ENST00000371383.2	37	c.992C>T	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507397	0.64410	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72505	-0.66;-0.66	5.49	5.49	0.81192	Alkaline-phosphatase-like, core domain (1);	0.323607	0.28895	N	0.013799	T	0.67373	0.2886	L	0.60957	1.885	0.35363	D	0.788366	B;B	0.30973	0.302;0.302	B;B	0.39339	0.297;0.102	T	0.71580	-0.4550	10	0.66056	D	0.02	-12.7195	19.7429	0.96238	0.0:0.0:1.0:0.0	.	331;331	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	L	331	ENSP00000360436:S331L;ENSP00000230565:S331L	ENSP00000230565:S331L	S	-	2	0	ENPP5	46241097	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.792000	0.55476	2.742000	0.94016	0.455000	0.32223	TCA		0.348	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			21	99	0	0	0	1	0	21	99				
LCT	3938	broad.mit.edu	37	2	136566179	136566179	+	Silent	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:136566179G>A	ENST00000264162.2	-	8	3748	c.3738C>T	c.(3736-3738)aaC>aaT	p.N1246N	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1246	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCGCAGCTCTGTTCATTGCCG	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3736-3738)aaC>aaT		lactase							153.0	127.0	136.0					2																	136566179		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566179G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3738C>T	2.37:g.136566179G>A							p.N1246N	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3748	-			1246			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.3738C>T	CCDS2178.1																																																																																				0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	110	0	0	0	1	0	4	110				
DPH1	1801	broad.mit.edu	37	17	1943642	1943642	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:1943642C>T	ENST00000263083.6	+	8	940	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Missense_Mutation_p.R219C|RP11-667K14.4_ENST00000572404.1_RNA	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	299					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CACTTTGGGCCGCCAGGGCAG	0.597																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(895-897)Cgc>Tgc		diphthamide biosynthesis 1							50.0	51.0	50.0					17																	1943642		1949	4158	6107	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943642C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.895C>T	17.37:g.1943642C>T	ENSP00000263083:p.Arg299Cys					DPH1_ENST00000570477.1_Missense_Mutation_p.R219C	p.R299C	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			8	940	+			299					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.895C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910918	0.92178	.	.	ENSG00000108963	ENST00000263083	T	0.50813	0.73	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.77177	0.4092	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.993	D	0.84027	0.0357	10	0.87932	D	0	-16.2111	17.1373	0.86743	0.0:1.0:0.0:0.0	.	309;309;299	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	C	299	ENSP00000263083:R299C	ENSP00000263083:R299C	R	+	1	0	DPH1	1890392	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.767000	0.38501	2.380000	0.81148	0.491000	0.48974	CGC		0.597	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		8	109	0	0	0	1	0	8	109				
ICE1	23379	broad.mit.edu	37	5	5462719	5462719	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:5462719C>G	ENST00000296564.7	+	13	3494	c.3272C>G	c.(3271-3273)cCt>cGt	p.P1091R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1091					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTAGCCTGCCTGGTACCTTA	0.498																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(3271-3273)cCt>cGt		KIAA0947							77.0	78.0	78.0					5																	5462719		1971	4150	6121	SO:0001583	missense	23379							g.chr5:5462719C>G																												ENST00000296564.7:c.3272C>G	5.37:g.5462719C>G	ENSP00000296564:p.Pro1091Arg						p.P1091R	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	3494	+			1091					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.3272C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	c	9.789	1.177446	0.21787	.	.	ENSG00000164151	ENST00000296564	T	0.11604	2.76	4.63	0.238	0.15480	.	.	.	.	.	T	0.04815	0.0130	N	0.19112	0.55	0.09310	N	1	B	0.31859	0.343	B	0.26517	0.07	T	0.41215	-0.9521	9	0.17369	T	0.5	-0.6791	2.8524	0.05562	0.2176:0.4319:0.0:0.3505	.	1091	Q9Y2F5	K0947_HUMAN	R	1091	ENSP00000296564:P1091R	ENSP00000296564:P1091R	P	+	2	0	KIAA0947	5515719	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.846000	0.04336	0.395000	0.25257	0.306000	0.20318	CCT		0.498	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			8	99	0	0	0	1	0	8	99				
TP63	8626	broad.mit.edu	37	3	189585680	189585680	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:189585680G>C	ENST00000264731.3	+	7	1030	c.941G>C	c.(940-942)gGa>gCa	p.G314A	TP63_ENST00000456148.1_Missense_Mutation_p.G220A|TP63_ENST00000382063.4_Missense_Mutation_p.G229A|TP63_ENST00000449992.1_Missense_Mutation_p.G135A|TP63_ENST00000354600.5_Missense_Mutation_p.G220A|TP63_ENST00000392463.2_Missense_Mutation_p.G220A|TP63_ENST00000437221.1_Missense_Mutation_p.G220A|TP63_ENST00000320472.5_Missense_Mutation_p.G314A|TP63_ENST00000392460.3_Missense_Mutation_p.G314A|TP63_ENST00000418709.2_Missense_Mutation_p.G314A|TP63_ENST00000440651.2_Missense_Mutation_p.G314A|TP63_ENST00000392461.3_Missense_Mutation_p.G220A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	314					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTTGTGTTGGAGGGATGAAC	0.393										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(940-942)gGa>gCa		tumor protein p63							109.0	95.0	100.0					3																	189585680		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189585680G>C	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.941G>C	3.37:g.189585680G>C	ENSP00000264731:p.Gly314Ala	HNSCC(45;0.13)				TP63_ENST00000456148.1_Missense_Mutation_p.G220A|TP63_ENST00000392463.2_Missense_Mutation_p.G220A|TP63_ENST00000392461.3_Missense_Mutation_p.G220A|TP63_ENST00000437221.1_Missense_Mutation_p.G220A|TP63_ENST00000440651.2_Missense_Mutation_p.G314A|TP63_ENST00000354600.5_Missense_Mutation_p.G220A|TP63_ENST00000418709.2_Missense_Mutation_p.G314A|TP63_ENST00000449992.1_Missense_Mutation_p.G135A|TP63_ENST00000392460.3_Missense_Mutation_p.G314A|TP63_ENST00000382063.4_Missense_Mutation_p.G229A|TP63_ENST00000320472.5_Missense_Mutation_p.G314A	p.G314A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	7	1030	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		314					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.941G>C	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643966	0.87859	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99893	-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57;-7.57	5.61	5.61	0.85477	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	0.99904	0.9954	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;0.999;0.999;0.997;0.999;0.997;0.998;0.999;1.0;0.999	D;D;D;D;D;D;D;D;D;D	0.87578	0.98;0.996;0.996;0.99;0.992;0.993;0.996;0.996;0.998;0.995	D	0.96457	0.9338	9	.	.	.	-5.3428	18.6204	0.91319	0.0:0.0:1.0:0.0	.	135;314;314;220;220;220;220;314;314;314	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	A	314;314;314;314;314;229;220;220;220;220;135;220	ENSP00000264731:G314A;ENSP00000407144:G314A;ENSP00000317510:G314A;ENSP00000376253:G314A;ENSP00000394337:G314A;ENSP00000371495:G229A;ENSP00000346614:G220A;ENSP00000392488:G220A;ENSP00000376256:G220A;ENSP00000376254:G220A;ENSP00000387839:G135A;ENSP00000389485:G220A	.	G	+	2	0	TP63	191068374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.652000	0.90054	0.655000	0.94253	GGA		0.393	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		5	28	0	0	0	1	0	5	28				
TNIP1	10318	broad.mit.edu	37	5	150422163	150422163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:150422163G>A	ENST00000389378.2	-	11	1660	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	TNIP1_ENST00000315050.7_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000520931.1_Nonsense_Mutation_p.Q305*|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.Q358*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	358	Interaction with Shigella flexneri ipah9.8.|Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGCTTCTGCTCCCGCTCG	0.577																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1072-1074)Cag>Tag		TNFAIP3 interacting protein 1							62.0	55.0	58.0					5																	150422163		2203	4300	6503	SO:0001587	stop_gained	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150422163G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1072C>T	5.37:g.150422163G>A	ENSP00000374029:p.Gln358*					TNIP1_ENST00000524280.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000520931.1_Nonsense_Mutation_p.Q305*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.Q358*	p.Q358*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1660	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	358			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Nonsense_Mutation	SNP	ENST00000389378.2	37	c.1072C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	39	7.475777	0.98309	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	.	.	.	5.05	5.05	0.67936	.	0.052365	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-28.325	18.0145	0.89235	0.0:0.0:1.0:0.0	.	.	.	.	X	305;358;358;358;315;315;320;358;358;358;358;358;315	.	ENSP00000317891:Q358X	Q	-	1	0	TNIP1	150402356	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.544000	0.98092	2.347000	0.79759	0.655000	0.94253	CAG		0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		4	58	0	0	0	1	0	4	58				
HERC1	8925	broad.mit.edu	37	15	64047508	64047508	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047508G>C	ENST00000443617.2	-	6	1637	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTATCCAGCTGACACACAAAC	0.388																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1549-1551)tCa>tGa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							85.0	80.0	82.0					15																	64047508		1986	4161	6147	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64047508G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1550C>G	15.37:g.64047508G>C	ENSP00000390158:p.Ser517*						p.S517*	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			6	1637	-			517					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.1550C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	39	7.542359	0.98348	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0492	0.97617	0.0:0.0:1.0:0.0	.	.	.	.	X	517	.	ENSP00000390158:S517X	S	-	2	0	HERC1	61834561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TCA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		6	25	0	0	0	1	0	6	25				
ALX1	8092	broad.mit.edu	37	12	85677423	85677423	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:85677423C>A	ENST00000316824.3	+	2	455	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	100					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACAACTGTAACAGTCTCCGAA	0.463																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(298-300)aaC>aaA		ALX homeobox 1							112.0	105.0	107.0					12																	85677423		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677423C>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.300C>A	12.37:g.85677423C>A	ENSP00000315417:p.Asn100Lys						p.N100K	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	455	+			100					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.300C>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598784	0.46318	.	.	ENSG00000180318	ENST00000316824	D	0.91631	-2.88	5.62	4.73	0.59995	.	0.182769	0.64402	D	0.000013	T	0.81093	0.4751	N	0.08118	0	0.43977	D	0.99666	B	0.25609	0.13	B	0.21360	0.034	T	0.76751	-0.2844	10	0.06625	T	0.88	.	14.7188	0.69289	0.0:0.9301:0.0:0.0699	.	100	Q15699	ALX1_HUMAN	K	100	ENSP00000315417:N100K	ENSP00000315417:N100K	N	+	3	2	ALX1	84201554	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.785000	0.38684	1.495000	0.48549	0.650000	0.86243	AAC		0.463	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		15	90	1	0	3.45872e-05	1	3.84302e-05	15	90				
SEC24D	9871	broad.mit.edu	37	4	119661874	119661874	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:119661874T>G	ENST00000280551.6	-	17	2420	c.2182A>C	c.(2182-2184)Acc>Ccc	p.T728P	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.T359P|SEC24D_ENST00000429811.2_Missense_Mutation_p.T284P|SEC24D_ENST00000379735.5_Missense_Mutation_p.T729P|SEC24D_ENST00000419654.2_Missense_Mutation_p.T284P			O94855	SC24D_HUMAN	SEC24 family member D	728					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AACTCCACGGTCACTGCCTTG	0.433																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2185-2187)Acc>Ccc		SEC24 family member D							162.0	135.0	144.0					4																	119661874		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119661874T>G	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2182A>C	4.37:g.119661874T>G	ENSP00000280551:p.Thr728Pro					SEC24D_ENST00000419654.2_Missense_Mutation_p.T284P|SEC24D_ENST00000511481.1_Missense_Mutation_p.T359P|SEC24D_ENST00000429811.2_Missense_Mutation_p.T284P|SEC24D_ENST00000280551.6_Missense_Mutation_p.T728P|SEC24D_ENST00000505134.1_5'UTR	p.T729P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			17	2456	-			728					Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.2185A>C	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	T	34	5.382474	0.95967	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	6.07	6.07	0.98685	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.87849	0.6281	M	0.87682	2.9	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.79108	0.925;0.992	D	0.88254	0.2918	10	0.44086	T	0.13	-28.329	16.6407	0.85098	0.0:0.0:0.0:1.0	.	729;728	O94855-2;O94855	.;SC24D_HUMAN	P	728;729;284;359;284	ENSP00000280551:T728P;ENSP00000369059:T729P;ENSP00000409775:T284P;ENSP00000425491:T359P;ENSP00000388324:T284P	ENSP00000280551:T728P	T	-	1	0	SEC24D	119881322	1.000000	0.71417	0.929000	0.37066	0.920000	0.55202	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	ACC		0.433	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			12	92	0	0	0	1	0	12	92				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	55	0	0	0	1	0	3	55				
RYR1	6261	broad.mit.edu	37	19	38964031	38964031	+	Silent	SNP	C	C	T			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:38964031C>T	ENST00000359596.3	+	28	3780	c.3780C>T	c.(3778-3780)gaC>gaT	p.D1260D	RYR1_ENST00000355481.4_Silent_p.D1260D|RYR1_ENST00000360985.3_Silent_p.D1260D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1260	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCGAGTGGACGGCACTGTGG	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3778-3780)gaC>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						50.0	54.0	53.0					19																	38964031		2203	4299	6502	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38964031C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3780C>T	19.37:g.38964031C>T						RYR1_ENST00000360985.3_Silent_p.D1260D|RYR1_ENST00000359596.3_Silent_p.D1260D	p.D1260D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		28	3911	+	all_cancers(60;7.91e-06)		1260			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3780C>T	CCDS33011.1																																																																																				0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	221	0	0	0	1	0	12	221				
TTN	7273	broad.mit.edu	37	2	179398132	179398132	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:179398132A>G	ENST00000591111.1	-	308	98511	c.98287T>C	c.(98287-98289)Tcc>Ccc	p.S32763P	TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S25531P|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31836P|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25464P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25339P|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S34404P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32763	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCCGAGGGACAGTGGCTGA	0.463																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103210-103212)Tcc>Ccc		titin							68.0	69.0	69.0					2																	179398132		1984	4157	6141	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398132A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98287T>C	2.37:g.179398132A>G	ENSP00000465570:p.Ser32763Pro					TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32763P|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S25464P|TTN_ENST00000342175.6_Missense_Mutation_p.S25531P|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25339P|TTN_ENST00000342992.6_Missense_Mutation_p.S31836P	p.S34404P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103434	-			32763					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.103210T>C		.	.	.	.	.	.	.	.	.	.	A	14.68	2.608796	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60728	0.2291	N	0.10837	0.055	0.33040	D	0.531285	D;D;D;D	0.54397	0.966;0.966;0.966;0.966	P;P;P;P	0.55303	0.773;0.773;0.773;0.773	T	0.72261	-0.4345	9	0.87932	D	0	.	11.8004	0.52124	0.8534:0.1465:0.0:0.0	.	25339;25464;25531;32763	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	31836;25339;25531;25464;25336	ENSP00000343764:S31836P;ENSP00000434586:S25339P;ENSP00000340554:S25531P;ENSP00000352154:S25464P	ENSP00000340554:S25531P	S	-	1	0	TTN	179106378	0.987000	0.35691	1.000000	0.80357	0.878000	0.50629	2.301000	0.43628	2.231000	0.72958	0.454000	0.30748	TCC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	77	0	0	0	1	0	18	77				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	50	0	0	0	1	0	3	50				
DOT1L	84444	broad.mit.edu	37	19	2226743	2226743	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:2226743G>A	ENST00000398665.3	+	27	4259	c.4223G>A	c.(4222-4224)gGc>gAc	p.G1408D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1408					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAGCGGCAAGGCCGCC	0.721																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4222-4224)gGc>gAc		DOT1-like histone H3K79 methyltransferase							10.0	16.0	14.0					19																	2226743		1994	4124	6118	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226743G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4223G>A	19.37:g.2226743G>A	ENSP00000381657:p.Gly1408Asp						p.G1408D	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4259	+		Hepatocellular(1079;0.137)	1408					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4223G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284442	0.23392	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.38077	1.63;1.16	4.53	2.35	0.29111	.	0.893166	0.09450	N	0.800481	T	0.26991	0.0661	N	0.22421	0.69	0.22754	N	0.99877	B;B	0.18968	0.019;0.032	B;B	0.24701	0.01;0.055	T	0.33085	-0.9882	10	0.87932	D	0	-2.0303	8.3086	0.32058	0.0832:0.0:0.7624:0.1544	.	1408;1408	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	D	1408;1408;288	ENSP00000381657:G1408D;ENSP00000407411:G288D	ENSP00000221482:G1408D	G	+	2	0	DOT1L	2177743	0.932000	0.31603	0.010000	0.14722	0.076000	0.17211	2.822000	0.48073	0.357000	0.24183	-0.258000	0.10820	GGC		0.721	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		3	29	0	0	0	1	0	3	29				
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	rs193921065		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:47696424G>C	ENST00000393328.2	-	6	764	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttG		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>G	17.37:g.47696424G>C	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921613	0.73213	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		27	140	0	0	0	1	0	27	140				
RREB1	6239	broad.mit.edu	37	6	7230611	7230611	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:7230611A>G	ENST00000349384.6	+	10	2593	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	RREB1_ENST00000379933.3_Missense_Mutation_p.E760G|RREB1_ENST00000334984.6_Missense_Mutation_p.E760G|RREB1_ENST00000379938.2_Missense_Mutation_p.E760G	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	760					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTGCGGCGAGGACCTCAAG	0.672																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2278-2280)gAg>gGg		ras responsive element binding protein 1							33.0	31.0	31.0					6																	7230611		2202	4298	6500	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230611A>G	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2279A>G	6.37:g.7230611A>G	ENSP00000305560:p.Glu760Gly					RREB1_ENST00000349384.6_Missense_Mutation_p.E760G|RREB1_ENST00000379933.3_Missense_Mutation_p.E760G|RREB1_ENST00000334984.6_Missense_Mutation_p.E760G	p.E760G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2816	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	760					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2279A>G	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137165	0.56936	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;2.75	5.46	5.46	0.80206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.091215	0.45867	D	0.000330	T	0.21427	0.0516	L	0.29908	0.895	0.58432	D	0.999993	P;P;P	0.49783	0.649;0.732;0.928	B;B;P	0.48030	0.398;0.322;0.564	T	0.02632	-1.1131	10	0.87932	D	0	-34.1798	15.7119	0.77635	1.0:0.0:0.0:0.0	.	760;760;760	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	G	760	ENSP00000369265:E760G;ENSP00000369270:E760G;ENSP00000305560:E760G;ENSP00000335574:E760G;ENSP00000419511:E760G	ENSP00000335574:E760G	E	+	2	0	RREB1	7175610	1.000000	0.71417	0.829000	0.32907	0.082000	0.17680	6.940000	0.75917	2.291000	0.77112	0.533000	0.62120	GAG		0.672	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	74	0	0	0	1	0	5	74				
AUNIP	79000	broad.mit.edu	37	1	26186960	26186960	+	5'Flank	DEL	T	T	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr1:26186960delT	ENST00000374298.3	-	0	0				RP1-125I3.2_ENST00000455431.1_RNA|AUNIP_ENST00000538789.1_5'Flank	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein						spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AATTTTGTAATTTTTTTTTTT	0.552																																						ENST00000455431.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:26186960delT		CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372		1.37:g.26186960delT	Exception_encountered													0	263	+								C9EI59|Q53F70	RNA	DEL	ENST00000374298.3	37		CCDS266.1																																																																																				0.552	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019309.2	NM_024037		2	4						2	4	---	---	---	---
RP11-782C8.1	0	broad.mit.edu	37	1	143230498	143230499	+	lincRNA	INS	-	-	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr1:143230498_143230499insA	ENST00000438000.1	+	0	147				RP11-782C8.5_ENST00000427309.1_lincRNA																							GCTTCCCCCTCAAAAAAAGGAA	0.292																																						ENST00000438000.1																			0																																																			0							g.chr1:143230498_143230499insA																													1.37:g.143230505_143230505dupA						RP11-782C8.5_ENST00000427309.1_lincRNA								0	147	+									RNA	INS	ENST00000438000.1	37																																																																																						0.292	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			3	6						3	6	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281936	152281936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr1:152281936delC	ENST00000368799.1	-	3	5461	c.5426delG	c.(5425-5427)ggtfs	p.G1809fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1809	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGTCCTGACCCTCTTGGGA	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5425-5427)gtfs		filaggrin							336.0	345.0	342.0					1																	152281936		2203	4300	6503	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281936delC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5426delG	1.37:g.152281936delC	ENSP00000357789:p.Gly1809fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1809fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5461	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1809			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.5426delG	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		136	682						136	682	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	5						3	5	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47125542	47125542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:47125542delC	ENST00000409792.3	-	12	5770	c.5728delG	c.(5728-5730)gatfs	p.D1910fs	SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1910					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTAATTGATCAAGATCCTCT	0.418			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(5728-5730)atfs		SET domain containing 2							259.0	249.0	252.0					3																	47125542		2203	4300	6503	SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47125542delC	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5728delG	3.37:g.47125542delC	ENSP00000386759:p.Asp1910fs						p.D1910fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	12	5770	-		Acute lymphoblastic leukemia(5;0.0169)	1910					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.5728delG	CCDS2749.2																																																																																				0.418	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	330						7	330	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125844490	125844491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:125844490_125844491insA	ENST00000393434.2	-	15	2117_2118	c.1768_1769insT	c.(1768-1770)gccfs	p.A590fs	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.A489fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.A600fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.A590fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	590	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGTGTTCCCGGCAGCCAGGCAG	0.569																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(1768-1770)cggfs		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)																																			SO:0001589	frameshift_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125844490_125844491insA	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1768_1769insT	3.37:g.125844490_125844491insA	ENSP00000377083:p.Ala590fs					ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.R489fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.R590fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.R600fs	p.R590fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	15	2117_2118	-			590			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Frame_Shift_Ins	INS	ENST00000393434.2	37	c.1768_1769insT	CCDS3034.1																																																																																				0.569	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		25	122						25	122	---	---	---	---
RP11-941H19.3	0	broad.mit.edu	37	8	81213789	81213794	+	lincRNA	DEL	CACACA	CACACA	-	rs539520358|rs549558736|rs71266069|rs62517186	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr8:81213789_81213794delCACACA	ENST00000522044.1	+	0	404																											CCCCCACCACcacacacacacacaca	0.544																																						ENST00000522044.1																			0																																																			0							g.chr8:81213789_81213794delCACACA																													8.37:g.81213795_81213800delCACACA														0	404	+									RNA	DEL	ENST00000522044.1	37																																																																																						0.544	RP11-941H19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379180.1			3	3						3	3	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			7	5						7	5	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						ENST00000343597.3																			3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)	kidney(2)|ovary(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(805-807)tcfs		family with sequence similarity 111, member B																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892377delA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs					FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	p.S269fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	998	+			269					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.807delA	CCDS7972.1																																																																																				0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		8	63						8	63	---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231					ENST00000360947.3																			3	Deletion - In frame(3)	p.Q233_P234delQP(3)	large_intestine(1)|prostate(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(697-705)cca>c		zinc finger protein 219			,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				SO:0001651	inframe_deletion	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21560753_21560758delGAGGCT	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	1109_1114	-	all_cancers(95;0.00185)		233	Missing (in Ref. 3; AAH00694).				D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	c.698_703delAGCCTC	CCDS9568.1																																																																																				0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			3	3						3	3	---	---	---	---
