#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:12331156A>G	ENST00000358136.3	+	17	2208	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAACTCTTGATCGTTTGCTA	0.468																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(2077-2079)gAt>gGt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							101.0	94.0	96.0					1																	12331156		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12331156A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2078A>G	1.37:g.12331156A>G	ENSP00000350854:p.Asp693Gly		Somatic				VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	p.D693G	NM_015378.2	NP_056193.2	WXS	Illumina GAIIx	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	17	2208	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	693						Missense_Mutation	SNP	ENST00000358136.3	37	c.2078A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960384	0.92791	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.44482	0.92;0.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.61739	-0.7001	10	0.49607	T	0.09	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	693;693	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	G	693	ENSP00000348666:D693G;ENSP00000350854:D693G	ENSP00000348666:D693G	D	+	2	0	VPS13D	12253743	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	8.907000	0.92634	2.191000	0.70037	0.533000	0.62120	GAT		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		27	53	27	53	---	---	---	---
F3	2152	broad.mit.edu	37	1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:94996023A>G	ENST00000334047.7	-	6	1044	c.881T>C	c.(880-882)gTt>gCt	p.V294A	F3_ENST00000370207.4_3'UTR|F3_ENST00000480356.1_5'Flank	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	294					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCTTTATGAAACATTCAGTGG	0.433																																					Melanoma(40;358 1339 15970 39161)	ENST00000334047.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14						c.(880-882)gTt>gCt		coagulation factor III (thromboplastin, tissue factor)	Coagulation factor VIIa(DB00036)						125.0	115.0	118.0					1																	94996023		2203	4300	6503	SO:0001583	missense	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:94996023A>G	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.881T>C	1.37:g.94996023A>G	ENSP00000334145:p.Val294Ala		Somatic				F3_ENST00000370207.4_3'UTR	p.V294A	NM_001993.4	NP_001984.1	WXS	Illumina GAIIx	Phase_I	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	6	1044	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	294					D3DT47|Q6FHG2|Q86WH4	Missense_Mutation	SNP	ENST00000334047.7	37	c.881T>C	CCDS750.1	.	.	.	.	.	.	.	.	.	.	A	9.304	1.053842	0.19907	.	.	ENSG00000117525	ENST00000334047	T	0.26223	1.75	5.68	-5.52	0.02560	.	1.184210	0.05951	N	0.638863	T	0.02342	0.0072	N	0.04508	-0.205	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38134	-0.9675	10	0.22109	T	0.4	.	3.1818	0.06587	0.5303:0.1131:0.244:0.1126	.	294	P13726	TF_HUMAN	A	294	ENSP00000334145:V294A	ENSP00000334145:V294A	V	-	2	0	F3	94768611	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.619000	0.05572	-0.612000	0.05701	-0.256000	0.11100	GTT		0.433	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		3	85	3	85	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	rs121913416|rs121913228		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:41266112T>G	ENST00000349496.5	+	3	389	c.109T>G	c.(109-111)Tct>Gct	p.S37A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes). {ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10666372}.|S -> C (in PTR, hepatoblastoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:9927029}.|S -> F (in PTR). {ECO:0000269|PubMed:10192393}.|S -> Y (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|SG -> W (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|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)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGGAATCCATTCTGGTGCCAC	0.498	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	214	Deletion - In frame(102)|Substitution - Missense(84)|Complex - deletion inframe(18)|Unknown(7)|Deletion - Frameshift(3)	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	liver(108)|large_intestine(33)|stomach(21)|endometrium(13)|small_intestine(10)|parathyroid(9)|central_nervous_system(8)|skin(3)|ovary(3)|pancreas(2)|adrenal_gland(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|pituitary(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(109-111)Tct>Gct		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						94.0	79.0	84.0					3																	41266112		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266112T>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.109T>G	3.37:g.41266112T>G	ENSP00000344456:p.Ser37Ala		Somatic				CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A	p.S37A	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	389	+			37		S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.109T>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591559	0.86953	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72357	-0.4318	10	0.87932	D	0	-15.9763	16.0677	0.80897	0.0:0.0:0.0:1.0	.	37	P35222	CTNB1_HUMAN	A	30;37;37;37;37;30;37;37;37	ENSP00000400508:S30A;ENSP00000385604:S37A;ENSP00000412219:S37A;ENSP00000379486:S37A;ENSP00000344456:S37A;ENSP00000411226:S30A;ENSP00000379488:S37A;ENSP00000409302:S37A;ENSP00000401599:S37A	ENSP00000344456:S37A	S	+	1	0	CTNNB1	41241116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.201000	0.70794	0.533000	0.62120	TCT		0.498	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	46	5	46	---	---	---	---
DCANP1	140947	broad.mit.edu	37	5	134785319	134785319	+	5'Flank	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr5:134785319C>T	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Missense_Mutation_p.R104K	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGGAGACCCTGTTGACGGT	0.587																																						ENST00000537858.1																			0				breast(1)|endometrium(1)|liver(1)|lung(5)	8						c.(310-312)aGg>aAg		TRAF-interacting protein with forkhead-associated domain, family member B							101.0	104.0	103.0					5																	134785319		2089	4219	6308	SO:0001631	upstream_gene_variant	497189							g.chr5:134785319C>T																													5.37:g.134785319C>T	Exception_encountered		Somatic					p.R104K	NM_001099221.1	NP_001092691.1	WXS	Illumina GAIIx	Phase_I	Q6ZNK6	TIFAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	511	-			104						Missense_Mutation	SNP	ENST00000503143.2	37	c.311G>A	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	C	9.073	0.997494	0.19043	.	.	ENSG00000255833	ENST00000537858	D	0.87179	-2.22	5.27	3.18	0.36537	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.343940	0.23784	U	0.044583	T	0.80042	0.4551	L	0.46157	1.445	0.09310	N	1	B	0.17268	0.021	B	0.20767	0.031	T	0.69277	-0.5187	10	0.51188	T	0.08	.	4.1666	0.10310	0.0:0.6071:0.2445:0.1483	.	104	Q6ZNK6	TIFAB_HUMAN	K	104	ENSP00000440509:R104K	ENSP00000440509:R104K	R	-	2	0	TIFAB	134813218	0.009000	0.17119	0.054000	0.19295	0.008000	0.06430	-0.072000	0.11486	1.201000	0.43203	0.563000	0.77884	AGG		0.587	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			12	114	12	114	---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr6:11191315T>C	ENST00000379446.5	-	5	953	c.787A>G	c.(787-789)Att>Gtt	p.I263V	NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	263					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGAGGAATGTCATAAACC	0.552																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(787-789)Att>Gtt		neural precursor cell expressed, developmentally down-regulated 9							84.0	74.0	78.0					6																	11191315		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11191315T>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.787A>G	6.37:g.11191315T>C	ENSP00000368759:p.Ile263Val		Somatic				NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	p.I263V	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	WXS	Illumina GAIIx	Phase_I	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	953	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	263					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.787A>G	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	t	0.010	-1.749832	0.00669	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.35421	1.31;1.41	6.07	4.91	0.64330	.	0.243990	0.48767	N	0.000168	T	0.05547	0.0146	N	0.10972	0.075	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.003	T	0.29366	-1.0014	10	0.02654	T	1	-27.0633	8.2732	0.31857	0.0:0.2085:0.0:0.7915	.	263;263;263	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	V	263	ENSP00000368759:I263V;ENSP00000422871:I263V	ENSP00000368759:I263V	I	-	1	0	NEDD9	11299301	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	1.119000	0.31258	1.128000	0.42052	0.529000	0.55759	ATT		0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		3	76	3	76	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:130191138C>T	ENST00000342483.5	+	2	450	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCTGCCCTTCCCCAAGAGGAA	0.478																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(43-45)cCc>cTc		zinc finger protein 79							56.0	58.0	57.0					9																	130191138		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130191138C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.44C>T	9.37:g.130191138C>T	ENSP00000362446:p.Pro15Leu		Somatic				ZNF79_ENST00000543471.1_5'UTR	p.P15L	NM_007135.2	NP_009066.2	WXS	Illumina GAIIx	Phase_I	Q15937	ZNF79_HUMAN			2	450	+			15					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.44C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182495	0.21870	.	.	ENSG00000196152	ENST00000342483	T	0.06687	3.27	3.77	0.743	0.18347	.	.	.	.	.	T	0.04998	0.0134	L	0.32530	0.975	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47275	-0.9130	9	0.08381	T	0.77	.	3.9323	0.09292	0.0:0.5702:0.1994:0.2303	.	15	Q15937	ZNF79_HUMAN	L	15	ENSP00000362446:P15L	ENSP00000362446:P15L	P	+	2	0	ZNF79	129230959	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.022000	0.12480	0.048000	0.15891	-0.140000	0.14226	CCC		0.478	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		5	17	5	17	---	---	---	---
WDR37	22884	broad.mit.edu	37	10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:1142152A>G	ENST00000358220.1	+	9	836	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R|WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	231										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TACGCGGTGCAGCTGCCGACA	0.488																																						ENST00000358220.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17						c.(691-693)cAg>cGg		WD repeat domain 37							125.0	108.0	114.0					10																	1142152		2203	4300	6503	SO:0001583	missense	22884							g.chr10:1142152A>G	AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.692A>G	10.37:g.1142152A>G	ENSP00000350954:p.Gln231Arg		Somatic				WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R|WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R	p.Q231R			WXS	Illumina GAIIx	Phase_I	Q9Y2I8	WDR37_HUMAN		Epithelial(11;0.134)	9	836	+		all_epithelial(10;0.0449)|Colorectal(49;0.142)	231					A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	ENST00000358220.1	37	c.692A>G	CCDS7057.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782300	0.70222	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.73575	0.05;-0.65;0.05;-0.76	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.106892	0.64402	D	0.000003	T	0.66076	0.2753	N	0.24115	0.695	0.80722	D	1	P;P;P	0.48230	0.828;0.828;0.907	B;B;B	0.44224	0.221;0.3;0.444	T	0.69917	-0.5015	10	0.49607	T	0.09	.	15.607	0.76682	1.0:0.0:0.0:0.0	.	231;231;231	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	R	231;231;231;198	ENSP00000350954:Q231R;ENSP00000370730:Q231R;ENSP00000263150:Q231R;ENSP00000404346:Q198R	ENSP00000263150:Q231R	Q	+	2	0	WDR37	1132152	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.201000	0.95017	2.091000	0.63221	0.523000	0.50628	CAG		0.488	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046418.1	NM_014023		8	66	8	66	---	---	---	---
RASSF7	8045	broad.mit.edu	37	11	562264	562264	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:562264G>A	ENST00000397583.3	+	3	743	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	104					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667																																					Pancreas(184;1170 3913 7268)	ENST00000397583.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8						c.(310-312)Gaa>Aaa		Ras association (RalGDS/AF-6) domain family (N-terminal) member 7							43.0	43.0	43.0					11																	562264		2202	4300	6502	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:562264G>A	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.310G>A	11.37:g.562264G>A	ENSP00000380713:p.Glu104Lys		Somatic				RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K	p.E104K	NM_003475.3	NP_003466.1	WXS	Illumina GAIIx	Phase_I	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	743	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	104					G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.310G>A	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225285	0.39300	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.28;1.36	3.48	3.48	0.39840	.	0.124193	0.52532	D	0.000064	T	0.43897	0.1268	N	0.24115	0.695	0.09310	N	0.999993	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.991;0.98;0.991	T	0.34354	-0.9832	10	0.30854	T	0.27	-2.9215	15.5537	0.76173	0.0:0.0:1.0:0.0	.	104;104;104	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	K	104	ENSP00000403068:E104K;ENSP00000380712:E104K;ENSP00000344226:E104K;ENSP00000380713:E104K;ENSP00000405606:E104K	ENSP00000344226:E104K	E	+	1	0	RASSF7	552264	1.000000	0.71417	0.735000	0.30896	0.033000	0.12548	5.078000	0.64425	1.975000	0.57531	0.561000	0.74099	GAA		0.667	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		5	49	5	49	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53819285	53819285	+	Silent	SNP	A	A	G			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr12:53819285A>G	ENST00000257863.4	+	5	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_ENST00000550311.1_Silent_p.P183P|AMHR2_ENST00000379791.3_Silent_p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	183					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCCAGTGCCAGAGCCAAGGC	0.592																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(547-549)ccA>ccG		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						67.0	68.0	68.0					12																	53819285		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819285A>G	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.549A>G	12.37:g.53819285A>G			Somatic				AMHR2_ENST00000379791.3_Silent_p.P183P|AMHR2_ENST00000550311.1_Silent_p.P183P	p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	WXS	Illumina GAIIx	Phase_I	Q16671	AMHR2_HUMAN			5	629	+			183					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.549A>G	CCDS8858.1																																																																																				0.592	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	80	3	80	---	---	---	---
SSTR1	6751	broad.mit.edu	37	14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr14:38679035T>A	ENST00000267377.2	+	3	1058	c.441T>A	c.(439-441)tgT>tgA	p.C147*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	147					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GCATCTACTGTCTGACTGTGC	0.647																																						ENST00000267377.2																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(439-441)tgT>tgA		somatostatin receptor 1	Octreotide(DB00104)						143.0	132.0	135.0					14																	38679035		2203	4299	6502	SO:0001587	stop_gained	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679035T>A		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.441T>A	14.37:g.38679035T>A	ENSP00000267377:p.Cys147*		Somatic					p.C147*	NM_001049.2	NP_001040.1	WXS	Illumina GAIIx	Phase_I	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1058	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		147						Nonsense_Mutation	SNP	ENST00000267377.2	37	c.441T>A	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	42	9.451182	0.99175	.	.	ENSG00000139874	ENST00000267377	.	.	.	4.82	2.63	0.31362	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2935	0.15739	0.0:0.5941:0.0:0.4059	.	.	.	.	X	147	.	ENSP00000267377:C147X	C	+	3	2	SSTR1	37748786	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.696000	0.25541	0.370000	0.24538	0.459000	0.35465	TGT		0.647	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			6	160	6	160	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:33928661G>T	ENST00000389232.4	+	27	3536	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1156	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAACCTGGATGATGCTTCAAT	0.483																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(3466-3468)Gat>Tat		ryanodine receptor 3							197.0	200.0	199.0					15																	33928661		2132	4251	6383	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33928661G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3466G>T	15.37:g.33928661G>T	ENSP00000373884:p.Asp1156Tyr		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	p.D1156Y	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	27	3536	+		all_lung(180;7.18e-09)	1156			4 X approximate repeats.|B30.2/SPRY 2.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3466G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680571	0.88542	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.70045	-0.45;-0.45	5.19	5.19	0.71726	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.84692	0.5528	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.961;0.989	D	0.86734	0.1950	10	0.87932	D	0	.	19.2617	0.93970	0.0:0.0:1.0:0.0	.	1156;1156	Q15413-2;Q15413	.;RYR3_HUMAN	Y	1156	ENSP00000373884:D1156Y;ENSP00000399610:D1156Y	ENSP00000354735:D1156Y	D	+	1	0	RYR3	31715953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.859000	0.98148	0.591000	0.81541	GAT		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			4	145	4	145	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7806622	7806622	+	Silent	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:7806622C>T	ENST00000330494.7	+	23	3678	c.3528C>T	c.(3526-3528)gcC>gcT	p.A1176A	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.A1176A|CHD3_ENST00000380358.4_Silent_p.A1235A	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1176	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGGCCAGGCCAACAAAGTGA	0.577																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3703-3705)gcC>gcT		chromodomain helicase DNA binding protein 3							64.0	65.0	65.0					17																	7806622		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7806622C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3528C>T	17.37:g.7806622C>T			Somatic				CHD3_ENST00000330494.7_Silent_p.A1176A|CHD3_ENST00000358181.4_Silent_p.A1176A	p.A1235A	NM_001005271.2	NP_001005271.2	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			23	3706	+		Prostate(122;0.202)	1176					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.3705C>T	CCDS32554.1																																																																																				0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	62	6	62	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:15971376G>A	ENST00000268712.3	-	32	4830	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1525	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCCTCTGGGTAGGGGTC	0.493																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4573-4575)Cag>Tag		nuclear receptor corepressor 1							70.0	63.0	66.0					17																	15971376		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971376G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4573C>T	17.37:g.15971376G>A	ENSP00000268712:p.Gln1525*		Somatic				NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*	p.Q1525*	NM_006311.3	NP_006302.2	WXS	Illumina GAIIx	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4830	-			1525			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.4573C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	37	6.536786	0.97646	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-9.3906	18.9612	0.92678	0.0:0.0:1.0:0.0	.	.	.	.	X	1525;1541;1430;109	.	ENSP00000268712:Q1525X	Q	-	1	0	NCOR1	15912101	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.411000	0.97342	2.715000	0.92844	0.563000	0.77884	CAG		0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	19	6	19	---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:42458366C>A	ENST00000262407.5	-	13	1305	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	425					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CTCACTCTGACCCAGGAACAC	0.612																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1273-1275)gGt>gTt		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						61.0	57.0	58.0					17																	42458366		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458366C>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1274G>T	17.37:g.42458366C>A	ENSP00000262407:p.Gly425Val		Somatic				ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	p.G425V	NM_000419.3	NP_000410.2	WXS	Illumina GAIIx	Phase_I	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1305	-		Prostate(33;0.0181)	425					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1274G>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983890	0.93044	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.76839	-1.05;-1.05;-1.05	5.49	5.49	0.81192	.	0.000000	0.35870	N	0.002929	D	0.92192	0.7524	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94003	0.7277	10	0.87932	D	0	.	18.3159	0.90221	0.0:1.0:0.0:0.0	.	425	P08514	ITA2B_HUMAN	V	425;425;110	ENSP00000262407:G425V;ENSP00000340536:G425V;ENSP00000366268:G110V	ENSP00000262407:G425V	G	-	2	0	ITGA2B	39813892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.300000	0.78841	2.865000	0.98341	0.655000	0.94253	GGT		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			15	32	15	32	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44145009	44145009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:44145009C>A	ENST00000262419.6	-	5	2028	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	520					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCATGGTTTTCCAATGGCTGA	0.413																																						ENST00000262419.6																			0											c.(1558-1560)Gaa>Taa		KAT8 regulatory NSL complex subunit 1							87.0	81.0	83.0					17																	44145009		2203	4300	6503	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44145009C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1558G>T	17.37:g.44145009C>A	ENSP00000262419:p.Glu520*		Somatic				KANSL1_ENST00000432791.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.E520*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.E520*	p.E520*	NM_001193466.1	NP_001180395	WXS	Illumina GAIIx	Phase_I	Q7Z3B3	K1267_HUMAN			5	2028	-			520					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.1558G>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	37	6.582141	0.97680	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	.	.	.	5.23	5.23	0.72850	.	0.167445	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.1714	15.5344	0.75990	0.0:1.0:0.0:0.0	.	.	.	.	X	520	.	ENSP00000262419:E520X	E	-	1	0	KIAA1267	41500831	0.998000	0.40836	1.000000	0.80357	0.895000	0.52256	4.964000	0.63701	2.432000	0.82394	0.655000	0.94253	GAA		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		4	36	4	36	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:63200388C>T	ENST00000262406.9	+	15	1239	c.1172C>T	c.(1171-1173)gCa>gTa	p.A391V	RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000449996.3_Missense_Mutation_p.A388V	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTGGACGCCGCACAAACCCAC	0.557																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1162-1164)gCa>gTa		regulator of G-protein signaling 9							61.0	65.0	63.0					17																	63200388		1947	4150	6097	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63200388C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1172C>T	17.37:g.63200388C>T	ENSP00000262406:p.Ala391Val		Somatic				RGS9_ENST00000443584.3_Missense_Mutation_p.A388V|RGS9_ENST00000262406.9_Missense_Mutation_p.A391V	p.A388V	NM_001081955.2	NP_001075424.1	WXS	Illumina GAIIx	Phase_I	O75916	RGS9_HUMAN			15	1235	+			391			RGS.		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1163C>T	CCDS42373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.181455|3.181455	0.57800|0.57800	.|.	.|.	ENSG00000108370|ENSG00000108370	ENST00000262406;ENST00000449996|ENST00000443584	T;T|.	0.02323|.	4.34;4.34|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85737|0.85737	0.5766|0.5766	M|M	0.90595|0.90595	3.13|3.13	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	D|D	0.86888|0.86888	0.2046|0.2046	10|6	0.72032|0.54805	D|T	0.01|0.06	.|.	20.0124|20.0124	0.97464|0.97464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	391;391;388|.	A8K1G1;O75916;O75916-5|.	.;RGS9_HUMAN;.|.	V|Y	391;388|368	ENSP00000262406:A391V;ENSP00000396329:A388V|.	ENSP00000262406:A391V|ENSP00000405814:H368Y	A|H	+|+	2|1	0|0	RGS9|RGS9	60630850|60630850	1.000000|1.000000	0.71417|0.71417	0.240000|0.240000	0.24138|0.24138	0.732000|0.732000	0.41865|0.41865	7.663000|7.663000	0.83820|0.83820	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.557	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		4	44	4	44	---	---	---	---
SLC16A6	9120	broad.mit.edu	37	17	66267073	66267073	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:66267073C>T	ENST00000327268.4	-	6	1392	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	410					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ACGACATCATCCTCAGCAAGC	0.468																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(1228-1230)Gat>Aat		solute carrier family 16, member 6	Pyruvic acid(DB00119)						114.0	99.0	105.0					17																	66267073		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267073C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.1228G>A	17.37:g.66267073C>T	ENSP00000319991:p.Asp410Asn		Somatic				SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N|ARSG_ENST00000448504.2_Intron	p.D410N	NM_001174166.1	NP_001167637.1	WXS	Illumina GAIIx	Phase_I	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1392	-	all_cancers(12;1.24e-09)		410					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.1228G>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327974	0.81690	.	.	ENSG00000108932	ENST00000327268	T	0.59224	0.28	4.52	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.052383	0.64402	D	0.000001	T	0.73776	0.3630	M	0.79123	2.44	0.80722	D	1	D	0.63046	0.992	P	0.62382	0.901	T	0.76066	-0.3095	10	0.45353	T	0.12	.	16.4022	0.83644	0.0:1.0:0.0:0.0	.	410	O15403	MOT7_HUMAN	N	410	ENSP00000319991:D410N	ENSP00000319991:D410N	D	-	1	0	SLC16A6	63778668	1.000000	0.71417	0.039000	0.18376	0.515000	0.34225	5.694000	0.68272	2.340000	0.79590	0.484000	0.47621	GAT		0.468	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		8	97	8	97	---	---	---	---
OTOP2	92736	broad.mit.edu	37	17	72926528	72926528	+	Silent	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:72926528T>C	ENST00000580223.1	+	5	828	c.798T>C	c.(796-798)ggT>ggC	p.G266G	OTOP2_ENST00000331427.4_Silent_p.G266G			Q7RTS6	OTOP2_HUMAN	otopetrin 2	266						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAATGTGGGTAGATTCCTGG	0.572																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(796-798)ggT>ggC		otopetrin 2							173.0	156.0	162.0					17																	72926528		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926528T>C	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.798T>C	17.37:g.72926528T>C			Somatic				OTOP2_ENST00000580223.1_Silent_p.G266G	p.G266G	NM_178160.2	NP_835454.1	WXS	Illumina GAIIx	Phase_I	Q7RTS6	OTOP2_HUMAN			6	890	+	all_lung(278;0.172)|Lung NSC(278;0.207)		266						Silent	SNP	ENST00000580223.1	37	c.798T>C	CCDS11708.1																																																																																				0.572	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		76	169	76	169	---	---	---	---
RDH8	50700	broad.mit.edu	37	19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:10131942T>C	ENST00000171214.1	+	5	797	c.548T>C	c.(547-549)gTg>gCg	p.V183A	RDH8_ENST00000591589.1_Missense_Mutation_p.V203A	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	183					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATCTCCCTGGTGGAGCCAGGC	0.532																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(607-609)gTg>gCg		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						59.0	56.0	57.0					19																	10131942		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131942T>C	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.548T>C	19.37:g.10131942T>C	ENSP00000171214:p.Val183Ala		Somatic				RDH8_ENST00000171214.1_Missense_Mutation_p.V183A	p.V203A			WXS	Illumina GAIIx	Phase_I	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		5	797	+			183					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.608T>C		.	.	.	.	.	.	.	.	.	.	T	26.2	4.713584	0.89112	.	.	ENSG00000080511	ENST00000171214	D	0.94793	-3.52	5.17	5.17	0.71159	NAD(P)-binding domain (1);	0.055778	0.64402	D	0.000004	D	0.95608	0.8572	M	0.76574	2.34	0.40453	D	0.980169	P	0.51449	0.945	P	0.53401	0.725	D	0.96240	0.9175	10	0.87932	D	0	.	12.9463	0.58373	0.0:0.0:0.0:1.0	.	183	Q9NYR8	RDH8_HUMAN	A	183	ENSP00000171214:V183A	ENSP00000171214:V183A	V	+	2	0	RDH8	9992942	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.566000	0.82347	1.961000	0.56991	0.379000	0.24179	GTG		0.532	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	50	4	50	---	---	---	---
PRKACA	5566	broad.mit.edu	37	19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:14208444A>C	ENST00000308677.4	-	7	785	c.589T>G	c.(589-591)Tgg>Ggg	p.W197G	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACAAGGTCCAAGTGCGGCCC	0.642																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(589-591)Tgg>Ggg		protein kinase, cAMP-dependent, catalytic, alpha							49.0	52.0	51.0					19																	14208444		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208444A>C		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.589T>G	19.37:g.14208444A>C	ENSP00000309591:p.Trp197Gly		Somatic				PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	p.W197G	NM_002730.3	NP_002721.1	WXS	Illumina GAIIx	Phase_I	P17612	KAPCA_HUMAN			7	785	-			197			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.589T>G	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.682812	0.68157	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.64260	-0.09	4.68	4.68	0.58851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40640	N	0.001051	T	0.60958	0.2309	N	0.10972	0.075	0.50039	D	0.99984	P;P;P;D	0.58268	0.908;0.95;0.505;0.982	P;P;P;D	0.68621	0.705;0.849;0.824;0.959	T	0.68318	-0.5440	10	0.87932	D	0	.	12.0852	0.53693	1.0:0.0:0.0:0.0	.	139;180;197;189	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	G	197;189;197;139	ENSP00000309591:W197G	ENSP00000309591:W197G	W	-	1	0	PRKACA	14069444	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.067000	0.93955	1.741000	0.51731	0.482000	0.46254	TGG		0.642	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		7	39	7	39	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:17397230G>A	ENST00000394458.3	+	9	1993	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	573										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACTGCTATGGAGTGGTGGC	0.642																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1717-1719)Gga>Aga		ankyrin repeat and LEM domain containing 1							40.0	36.0	38.0					19																	17397230		2203	4297	6500	SO:0001583	missense	126549					nuclear envelope		g.chr19:17397230G>A	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1717G>A	19.37:g.17397230G>A	ENSP00000377971:p.Gly573Arg		Somatic				ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I	p.G573R	NM_152363.4	NP_689576	WXS	Illumina GAIIx	Phase_I	Q8NAG6	ANKL1_HUMAN			9	1993	+			573					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1717G>A	CCDS12354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.595718|4.595718	0.86953|0.86953	.|.	.|.	ENSG00000160117|ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458|ENST00000438921	D|.	0.89270|.	-2.49|.	5.42|5.42	4.35|4.35	0.52113|0.52113	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72843|0.72843	0.3511|0.3511	M|M	0.90870|0.90870	3.155|3.155	0.80722|0.80722	D|D	1|1	D;D;D|B	0.89917|0.09022	1.0;1.0;0.996|0.002	D;D;D|B	0.97110|0.06405	1.0;0.999;0.941|0.002	T|T	0.72603|0.72603	-0.4243|-0.4243	10|8	0.87932|0.46703	D|T	0|0.11	.|.	13.7771|13.7771	0.63059|0.63059	0.0:0.1554:0.8446:0.0|0.0:0.1554:0.8446:0.0	.|.	533;573;536|500	Q8NAG6-1;Q8NAG6;A0JLW0|E7ETZ9	.;ANKL1_HUMAN;.|.	R|I	573;569;536|500	ENSP00000384008:G569R|.	ENSP00000377971:G536R|ENSP00000415429:M500I	G|M	+|+	1|3	0|0	ANKLE1|ANKLE1	17258230|17258230	1.000000|1.000000	0.71417|0.71417	0.495000|0.495000	0.27527|0.27527	0.983000|0.983000	0.72400|0.72400	7.066000|7.066000	0.76734|0.76734	1.234000|1.234000	0.43709|0.43709	0.491000|0.491000	0.48974|0.48974	GGA|ATG		0.642	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		3	52	3	52	---	---	---	---
SYCP2	10388	broad.mit.edu	37	20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr20:58470533T>C	ENST00000357552.3	-	20	1849	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	542					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTGATGATCTAGATTTCAGT	0.318																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1624-1626)Aga>Gga		synaptonemal complex protein 2							180.0	172.0	175.0					20																	58470533		2203	4300	6503	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58470533T>C	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1624A>G	20.37:g.58470533T>C	ENSP00000350162:p.Arg542Gly		Somatic				SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G	p.R542G			WXS	Illumina GAIIx	Phase_I	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		20	1849	-	all_lung(29;0.00344)		542					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1624A>G	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435906	0.25813	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.20069	2.35;2.35;2.1	4.71	2.44	0.29823	.	0.748783	0.12550	N	0.459106	T	0.20170	0.0485	L	0.60455	1.87	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.21965	-1.0230	10	0.66056	D	0.02	-6.5147	5.9147	0.19048	0.0:0.2071:0.0:0.7929	.	542	Q9BX26	SYCP2_HUMAN	G	542	ENSP00000360040:R542G;ENSP00000350162:R542G;ENSP00000402456:R542G	ENSP00000350162:R542G	R	-	1	2	SYCP2	57903928	0.139000	0.22563	0.341000	0.25589	0.291000	0.27294	0.167000	0.16602	0.900000	0.36469	0.477000	0.44152	AGA		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		16	46	16	46	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	rs139016848		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr22:30185114C>T	ENST00000397771.2	-	21	2339	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H|ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGTCTCGCGGCTCTGCCC	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18503	0.0		0.0	False		,,,				2504	0.0					ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(2161-2163)cGc>cAc		activating signal cointegrator 1 complex subunit 2							300.0	257.0	271.0					22																	30185114		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30185114C>T	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.2162G>A	22.37:g.30185114C>T	ENSP00000380877:p.Arg721His		Somatic				ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H	p.R721H			WXS	Illumina GAIIx	Phase_I	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		21	2339	-			721					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.2162G>A	CCDS13869.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.98	2.993686	0.54041	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.08546	3.08;3.08;3.09	5.89	4.82	0.62117	.	0.369685	0.31734	N	0.007153	T	0.17408	0.0418	L	0.49350	1.555	0.22552	N	0.998994	D;D	0.57571	0.98;0.965	P;P	0.54401	0.751;0.466	T	0.01834	-1.1264	10	0.46703	T	0.11	-14.1202	15.6452	0.77042	0.0:0.8628:0.1371:0.0	.	645;721	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	H	721;721;645	ENSP00000305502:R721H;ENSP00000380877:R721H;ENSP00000437570:R645H	ENSP00000305502:R721H	R	-	2	0	ASCC2	28515114	0.962000	0.33011	0.653000	0.29593	0.439000	0.31926	2.022000	0.41030	2.793000	0.96121	0.561000	0.74099	CGC		0.627	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		12	328	12	328	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-	rs587782304		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:89720833delA	ENST00000371953.3	+	8	2341	c.984delA	c.(982-984)gcafs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACAAAGCAAATAAAGACA	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(4)|Unknown(2)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(982-984)gcafs		phosphatase and tensin homolog							73.0	76.0	75.0					10																	89720833		2203	4297	6500	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720833delA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.984delA	10.37:g.89720833delA	ENSP00000361021:p.Ala328fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)	Somatic				PTEN_ENST00000472832.1_3'UTR	p.A328fs	NM_000314.4	NP_000305.3	WXS	Illumina GAIIx	Phase_I	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2341	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	328			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.984delA	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		21	74	21	74	---	---	---	---
HBG2	3048	broad.mit.edu	37	11	5275612	5275612	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5275612delG	ENST00000380259.2	-	7	1465	c.225delC	c.(223-225)gccfs	p.A75fs	HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs|HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs			P69892	HBG2_HUMAN	hemoglobin, gamma G	75					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTTATGGCATCTCCCA	0.527																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(223-225)gccfs		hemoglobin, gamma G							383.0	298.0	327.0					11																	5275612		2201	4298	6499	SO:0001589	frameshift_variant	3048							g.chr11:5275612delG	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.225delC	11.37:g.5275612delG	ENSP00000369609:p.Ala75fs		Somatic				HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs|HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs	p.A75fs			WXS	Illumina GAIIx	Phase_I				Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1465	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Frame_Shift_Del	DEL	ENST00000380259.2	37	c.225delC	CCDS7755.1																																																																																				0.527	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		11	217	11	217	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44966780	44966783	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:44966780_44966783delAAGT	ENST00000377967.4	+	27	4045_4046	c.4004_4005delAAGT	c.(4003-4005)gaa>g	p.E1335fs	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1335					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCATTTGTGAAGTAAGTAATTGT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4003-4005)gaa>g		lysine (K)-specific demethylase 6A																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44966780_44966783delAAGT	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4005+1AAGT>-	X.37:g.44966784_44966787delAAGT			Somatic				KDM6A_ENST00000382899.4_Splice_Site_p.E1342fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Splice_Site_p.E1256fs|KDM6A_ENST00000536777.1_Splice_Site_p.E1290fs	p.E1335fs	NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			27	4045_4046	+			1335					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.4004_4005delAAGT	CCDS14265.1																																																																																				0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	12	42	12	42	---	---	---	---
