#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
PPP2R5C	5527	broad.mit.edu	37	14	102349889	102349890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			-	T	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:102349889_102349890insT	ENST00000334743.5	+	5	667_668	c.619_620insT	c.(619-621)atafs	p.I207fs	PPP2R5C_ENST00000422945.2_Frame_Shift_Ins_p.I238fs|PPP2R5C_ENST00000557095.1_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000328724.5_Frame_Shift_Ins_p.I262fs	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	207					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GATAAATAATATATTTTATAGG	0.45																																						ENST00000334743.5	0.770000	0.560000	7.300000e-01	6.100000e-01	0.660000	0.675569	0.660000	0.680000																										0				20						c.(619-621)atafs		protein phosphatase 2, regulatory subunit B', gamma																																				SO:0001589	frameshift_variant	5527	0	0					g.chr14:102349889_102349890insT	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.620dupT	chr14.hg19:g.102349890_102349890dupT	ENSP00000333905:p.Ile207fs	0					PPP2R5C_ENST00000328724.5_Frame_Shift_Ins_p.I262fs|PPP2R5C_ENST00000557095.1_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000422945.2_Frame_Shift_Ins_p.I238fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Ins_p.I207fs	p.I207fs	NM_002719.3	NP_002710.2	0	0	0	2.048850	Q13362	2A5G_HUMAN		5	667_668	+			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Frame_Shift_Ins	INS	ENST00000334743.5	0	1	hg19	c.619_620insT	CCDS9964.1	0																																																																																								0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.450	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	1	0	1		2	2		0	0	0	0	89	0	89	89	1	1.910000	-20.000000	1	0.500000	NM_002719		0	138	140	0	682	663	0	0	1	0	0	0	0	89	0	0	1.000000	9.997236e-01	0	0	0	60	0	138	682
SLC22A5	6584	broad.mit.edu	37	5	131724619	131724621	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr5:131724619_131724621delGAC	ENST00000245407.3	+	6	1179_1181	c.958_960delGAC	c.(958-960)gacdel	p.D320del	SLC22A5_ENST00000435065.2_In_Frame_Del_p.D344del|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	320					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCAGTTACAAGACCTAAGTTCCA	0.448											OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000245407.3	0.530000	0.240000	4.400000e-01	2.900000e-01	0.360000	0.374127	0.360000	0.360000																										0				8						c.(958-960)gacdel		solute carrier family 22 (organic cation/carnitine transporter), member 5	Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)																																			SO:0001651	inframe_deletion	6584	0	0					g.chr5:131724619_131724621delGAC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.958_960delGAC	chr5.hg19:g.131724619_131724621delGAC	ENSP00000245407:p.Asp320del	0		OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1589	SLC22A5_ENST00000435065.2_In_Frame_Del_p.D344del|SLC22A5_ENST00000479605.1_3'UTR	p.D320del	NM_003060.3	NP_003051.1	1	2	3	2.070271	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	6	1179_1181	+		all_cancers(142;0.0751)|Breast(839;0.198)	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	In_Frame_Del	DEL	ENST00000245407.3	0	1	hg19	c.958_960delGAC	CCDS4154.1	0																																																																																								0.502488		TCGA-PZ-A5RE-01A-11D-A32N-08	0.448	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	1	0	0		2	2		0	0	0	0	39	0	39	39	1	1.910000	-20.000000	1	0.500000	NM_003060		0	26	29	0	266	264	0	0	1	1	0	0	0	39	0	0	1.000000	4.964207e-01	0	4	0	14	0	26	266
FRMPD2	143162	broad.mit.edu	37	10	49392828	49392828	+	Missense_Mutation	SNP	G	G	A	rs34002506	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:49392828G>A	ENST00000374201.3	-	19	2758	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FRMPD2_ENST00000305531.3_Missense_Mutation_p.T794M|FRMPD2_ENST00000407470.4_Missense_Mutation_p.T787M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	819	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGGTTTGATCGTTTTTGCTTT	0.348													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		21396	0.0		0.0	False		,,,				2504	0.0					ENST00000374201.3			0	0																														0				66						c.(2455-2457)aCg>aTg		FERM and PDZ domain containing 2		G	MET/THR	7,4399	12.9+/-30.5	0,7,2196	90.0	86.0	88.0		2456	-4.4	0.0	10	dbSNP_126	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FRMPD2	NM_001018071.3	81	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	benign	819/1310	49392828	8,12998	2203	4300	6503	SO:0001583	missense	143162	23	121410	44				g.chr10:49392828G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2456C>T	chr10.hg19:g.49392828G>A	ENSP00000363317:p.Thr819Met						FRMPD2_ENST00000407470.4_Missense_Mutation_p.T787M|FRMPD2_ENST00000305531.3_Missense_Mutation_p.T794M	p.T819M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2					Q68DX3	FRPD2_HUMAN		19	2758	-			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	1	1	hg19	c.2456C>T	CCDS31195.1		4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	0.927	-0.714061	0.03206	0.001589	1.16E-4	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39406	1.08;1.08;1.08	5.1	-4.42	0.03579	5.1	-4.42	0.03579	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.18425	0.0442	L	0.42245	1.32	0.09310	N	1	B;B;B	0.22604	0.072;0.014;0.072	B;B;B	0.13407	0.009;0.008;0.009	T	0.20638	-1.0269	9	0.33141	T	0.24	.	1.4061	0.02281	0.2083:0.1364:0.3532:0.3022	rs34002506	794;819;787	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	M	819;794;787	ENSP00000363317:T819M;ENSP00000307079:T794M;ENSP00000384339:T787M	ENSP00000307079:T794M	T	-	2	0	0	FRMPD2	49062834	49062834	0.826000	0.29277	0.022000	0.16811	0.008000	0.06430	0.117000	0.15583	-0.877000	0.04012	-3.274000	0.00048	ACG			TCGA-PZ-A5RE-01A-11D-A32N-08	0.348	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1	2	2	2	2	0	0	0	0	24	24	24	24	1	1.910000	-3.213634	1	0.500000	NM_152428		0	35	35	0	116	115	1		1			0	0	24	0	0	1.000000	0	0	0	0	0	0	35	116
DMBT1	1755	broad.mit.edu	37	10	124389416	124389416	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:124389416C>A	ENST00000338354.3	+	44	5448	c.5342C>A	c.(5341-5343)tCc>tAc	p.S1781Y	DMBT1_ENST00000368955.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1153Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1153Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.S501Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1781Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1781	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCAGCCCATCCTACCCTGCA	0.458																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3	1.000000	0.930000	1	9.900000e-01	0.990000	0.994515	0.990000	1.000000																										0				72						c.(5341-5343)tCc>tAc		deleted in malignant brain tumors 1							220.0	209.0	213.0					10																	124389416		1908	4124	6032	SO:0001583	missense	1755	0	0					g.chr10:124389416C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5342C>A	chr10.hg19:g.124389416C>A	ENSP00000342210:p.Ser1781Tyr	0					DMBT1_ENST00000368909.3_Missense_Mutation_p.S1781Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.S501Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1153Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1153Y	p.S1781Y			1	2	3	2.062320	Q9UGM3	DMBT1_HUMAN		44	5448	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	1	1	hg19	c.5342C>A		1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262327	0.01445	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.42	-2.46	0.06461	4.42	-2.46	0.06461	CUB (5);	.	.	.	.	T	0.31295	0.0792	N	0.17800	0.525	0.09310	N	1	B;D;B;D;D;D;D	0.76494	0.046;0.999;0.007;0.998;0.994;0.996;0.991	B;D;B;D;D;D;D	0.83275	0.014;0.996;0.005;0.947;0.969;0.989;0.949	T	0.20174	-1.0283	9	0.35671	T	0.21	.	5.0923	0.14715	0.158:0.2727:0.0:0.5692	.	501;1761;1030;1910;1153;1771;1781	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	1781;1910;1781;1781;1781;1781;1153;1771;1153;1153;1781;1771;1153;501	ENSP00000342210:S1781Y;ENSP00000343175:S1771Y;ENSP00000327747:S1153Y;ENSP00000357905:S1781Y;ENSP00000357951:S1771Y;ENSP00000357952:S1153Y;ENSP00000352593:S501Y	ENSP00000331522:S1153Y	S	+	2	0	0	DMBT1	124379406	124379406	0.000000	0.05858	0.873000	0.34254	0.769000	0.43574	-2.969000	0.00668	-0.668000	0.05296	-0.793000	0.03317	TCC	0.501247		TCGA-PZ-A5RE-01A-11D-A32N-08	0.458	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1	2	2	2	2	0	0	0	0	102	102	102	102	1	1.910000	-20.000000	1	0.500000	NM_004406		0	208	208	0	579	574	1		1	1		0	0	102	0	0	1.000000	1	0	133	0	168	0	208	579
KRAS	3845	broad.mit.edu	37	12	25380272	25380272	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380272C>T	ENST00000256078.4	-	3	249	c.186G>A	c.(184-186)gaG>gaA	p.E62E	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.E62E|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	62					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.E62D(1)|p.E62_S65>D(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CACTGTACTCCTCTTGACCTG	0.423		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000		119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	2	Substitution - Missense(1)|Complex - deletion inframe(1)	p.E62D(1)|p.E62_S65>D(1)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	25349						c.(184-186)gaG>gaA		Kirsten rat sarcoma viral oncogene homolog							112.0	100.0	104.0					12																	25380272		2203	4300	6503	SO:0001819	synonymous_variant	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25380272C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.186G>A	chr12.hg19:g.25380272C>T		1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.E62E	p.E62E	NM_033360.2	NP_203524.1	0	2	2	2.036976	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	3	249	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	1	1	hg19	c.186G>A	CCDS8703.1	1																																																																																								0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	2	2	2	2	0	0	0	0	36	36	36	35	1	1.910000	-19.831790	1	0.500000	NM_033360		1045	119	118	3937	160	159	1	1	1	1	1	0	0	36	960	1	1.000000	9.999986e-01	1	28	184	4	307	119	160
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	25349						c.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25380275T>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	chr12.hg19:g.25380275T>G	ENSP00000256078:p.Gln61His	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	p.Q61H	NM_033360.2	NP_203524.1	0	2	2	2.036976	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	3	246	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.183A>C	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	2	KRAS	25271542	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	36	36	36	35	1	1.910000	-20.000000	1	0.500000	NM_033360		4119	109	108	3912	153	152	1	1	1	1	1	0	0	36	951	1	1.000000	9.999872e-01	1	25	176	3	304	109	153
BTBD11	121551	broad.mit.edu	37	12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:108045467A>C	ENST00000280758.5	+	16	3536	c.3008A>C	c.(3007-3009)aAg>aCg	p.K1003T	BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T|Y_RNA_ENST00000410228.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1003						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTGCTAAGTTTTTCCAG	0.438																																						ENST00000280758.5	1.000000	0.940000	1	9.700000e-01	0.980000	0.989776	0.980000	0.990000																										0				53						c.(3007-3009)aAg>aCg		BTB (POZ) domain containing 11							100.0	97.0	98.0					12																	108045467		2203	4300	6503	SO:0001583	missense	121551	0	0					g.chr12:108045467A>C	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3008A>C	chr12.hg19:g.108045467A>C	ENSP00000280758:p.Lys1003Thr	1					BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T	p.K1003T	NM_001018072.1	NP_001018082.1	0	1	1	2.000950	A6QL63	BTBDB_HUMAN		16	3536	+			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	1	1	hg19	c.3008A>C	CCDS31893.1	1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883579	0.72410	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.14	5.14	0.70334	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.41573	1.285	0.58432	D	0.999999	D;D	0.64830	0.991;0.994	D;D	0.76575	0.988;0.946	T	0.04781	-1.0927	10	0.38643	T	0.18	.	15.235	0.73422	1.0:0.0:0.0:0.0	.	540;1003	E9PHS4;A6QL63	.;BTBDB_HUMAN	T	1003;884;540;82	ENSP00000280758:K1003T;ENSP00000413889:K884T;ENSP00000349690:K540T;ENSP00000448322:K82T	ENSP00000280758:K1003T	K	+	2	0	0	BTBD11	106569597	106569597	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	8.757000	0.91657	2.050000	0.60909	0.533000	0.62120	AAG	0.333333		TCGA-PZ-A5RE-01A-11D-A32N-08	0.438	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	2	2	2	2	0	0	0	0	29	29	29	29	1	1.910000	-20.000000	1	0.500000	NM_152322		0	115	115	0	92	90	1		1	0		0	0	29	0	0	1.000000	7.631145e-01	0	1	0	3	0	115	92
MYH7	4625	broad.mit.edu	37	14	23886078	23886078	+	Splice_Site	SNP	T	T	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:23886078T>A	ENST00000355349.3	-	33	4805	c.4643A>T	c.(4642-4644)gAg>gTg	p.E1548V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1548					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACACACACCTCGGCCTCCTC	0.592																																						ENST00000355349.3	0.140000	0.020000	1.100000e-01	5.000000e-02	0.070000	0.084290	0.070000	0.080000																										0				137						c.(4642-4644)gAg>gTg		myosin, heavy chain 7, cardiac muscle, beta							81.0	66.0	71.0					14																	23886078		2203	4300	6503	SO:0001630	splice_region_variant	4625	0	0					g.chr14:23886078T>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4644+1A>T	chr14.hg19:g.23886078T>A		0					MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	p.E1548V	NM_000257.2	NP_000248.2	0	0	0	2.048850	P12883	MYH7_HUMAN		33	4805	-	all_cancers(95;2.54e-05)		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Splice_Site	SNP	ENST00000355349.3	0	1	hg19	c.4643A>T	CCDS9601.1	0	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971197	0.74246	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90676	-2.71	4.99	4.99	0.66335	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.97018	0.9026	H	0.97983	4.12	0.80722	D	1	D	0.63880	0.993	D	0.69654	0.965	D	0.98472	1.0601	9	0.87932	D	0	.	14.8662	0.70419	0.0:0.0:0.0:1.0	.	1548	P12883	MYH7_HUMAN	V	1548;1553	ENSP00000347507:E1548V	ENSP00000347507:E1548V	E	-	2	0	0	MYH7	22955918	22955918	1.000000	0.71417	0.997000	0.53966	0.386000	0.30323	7.517000	0.81783	2.091000	0.63221	0.533000	0.62120	GAG	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	0	1	2	2	2	2	0	0	0	0	52	52	52	52	1	1.910000	-7.548153	1	0.500000	NM_000257	Missense_Mutation	0	8	8	0	416	410	0		1			0	0	52	0	0	0.988887	0	0	0	0	0	0	8	416
SLC9A5	6553	broad.mit.edu	37	16	67298340	67298340	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr16:67298340G>A	ENST00000299798.11	+	13	1993	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	643					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R643Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AACATGAAGCGGCGGCTGGAG	0.577																																						ENST00000299798.11	1.000000	0.820000	1	9.200000e-01	0.990000	0.972286	0.990000	1.000000																										1	Substitution - Missense(1)	p.R643Q(1)	lung(1)	27						c.(1927-1929)cGg>cAg		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							34.0	41.0	38.0					16																	67298340		2158	4265	6423	SO:0001583	missense	6553	6	121144	37				g.chr16:67298340G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1928G>A	chr16.hg19:g.67298340G>A	ENSP00000299798:p.Arg643Gln	0					CTC-277H1.7_ENST00000573063.1_RNA	p.R643Q	NM_004594.2	NP_004585.1	0	0	0	2.046525	Q14940	SL9A5_HUMAN		13	1993	+		Ovarian(137;0.0563)	A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	1	1	hg19	c.1928G>A	CCDS42178.1	1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765611	0.49574	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.57752	0.38	5.33	4.37	0.52481	5.33	4.37	0.52481	.	0.202625	0.42172	N	0.000749	T	0.49372	0.1553	L	0.55990	1.75	0.31443	N	0.671663	B;D	0.53462	0.196;0.96	B;B	0.42771	0.031;0.397	T	0.60652	-0.7221	10	0.44086	T	0.13	.	13.6817	0.62489	0.0752:0.0:0.9248:0.0	.	156;643	F8WDV9;Q14940	.;SL9A5_HUMAN	Q	643;156	ENSP00000299798:R643Q	ENSP00000299798:R643Q	R	+	2	0	0	SLC9A5	65855841	65855841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.156000	0.58138	1.385000	0.46445	0.561000	0.74099	CGG	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.577	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1	1	0	1	2	2	2	2	0	0	0	0	48	48	48	48	1	1.910000	-20.000000	1	0.500000			0	68	66	0	196	175	1		1	0		0	0	48	0	0	1.000000	3.868547e-01	0	1	0	4	0	68	196
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:7578268A>T	ENST00000269305.4	-	6	770	c.581T>A	c.(580-582)cTt>cAt	p.L194H	TP53_ENST00000420246.2_Missense_Mutation_p.L194H|TP53_ENST00000413465.2_Missense_Mutation_p.L194H|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L194H|TP53_ENST00000455263.2_Missense_Mutation_p.L194H|TP53_ENST00000445888.2_Missense_Mutation_p.L194H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	0.950000	0.600000	8.700000e-01	6.800000e-01	0.770000	0.784688	0.770000	0.780000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	24185						c.(580-582)cTt>cAt	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						97.0	87.0	90.0					17																	7578268		2203	4300	6503	SO:0001583	missense	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7578268A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>A	chr17.hg19:g.7578268A>T	ENSP00000269305:p.Leu194His	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.L194H|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194H|TP53_ENST00000420246.2_Missense_Mutation_p.L194H|TP53_ENST00000359597.4_Missense_Mutation_p.L194H|TP53_ENST00000413465.2_Missense_Mutation_p.L194H	p.L194H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.562467	P04637	P53_HUMAN		6	770	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	1	1	hg19	c.581T>A	CCDS11118.1	0	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086635	0.55861	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.41	5.41	0.78517	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194H;ENSP00000352610:L194H;ENSP00000269305:L194H;ENSP00000398846:L194H;ENSP00000391127:L194H;ENSP00000391478:L194H;ENSP00000425104:L62H;ENSP00000423862:L101H	ENSP00000269305:L194H	L	-	2	0	0	TP53	7518993	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT	0.333333		TCGA-PZ-A5RE-01A-11D-A32N-08	0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	2	2	2	5	0	0	0	0	32	32	32	32	1	1.910000	-20.000000	1	0.500000	NM_000546		0	50	50	0	140	141	1		1	1	1	0	1	32	1283	0	1.000000	9.999966e-01	1	37	178	21	398	50	140
DNAI2	64446	broad.mit.edu	37	17	72277972	72277972	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:72277972G>A	ENST00000311014.6	+	2	83	c.16G>A	c.(16-18)Gtg>Atg	p.V6M	DNAI2_ENST00000446837.2_Missense_Mutation_p.V6M|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.V6M|DNAI2_ENST00000579490.1_Missense_Mutation_p.V63M			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	6					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GATTGTGTACGTGTACGTCAA	0.632									Kartagener syndrome																													ENST00000311014.6	1.000000	0.850000	1	9.300000e-01	0.990000	0.978191	0.990000	1.000000																										0				39						c.(16-18)Gtg>Atg		dynein, axonemal, intermediate chain 2							95.0	81.0	86.0					17																	72277972		2203	4300	6503	SO:0001583	missense	64446	0	0		Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	g.chr17:72277972G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.16G>A	chr17.hg19:g.72277972G>A	ENSP00000308312:p.Val6Met	0					DNAI2_ENST00000579490.1_Missense_Mutation_p.V63M|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.V6M|DNAI2_ENST00000582036.1_Missense_Mutation_p.V6M	p.V6M			1	2	3	2.071479	Q9GZS0	DNAI2_HUMAN		2	83	+			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	1	1	hg19	c.16G>A	CCDS11697.1	1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903787	0.72754	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.68181	-0.31;-0.31	5.22	5.22	0.72569	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.78916	2.43	0.80722	D	1	D	0.67145	0.996	P	0.52514	0.701	T	0.78740	-0.2086	10	0.46703	T	0.11	-48.1228	19.0564	0.93067	0.0:0.0:1.0:0.0	.	6	Q9GZS0	DNAI2_HUMAN	M	6	ENSP00000308312:V6M;ENSP00000400252:V6M	ENSP00000308312:V6M	V	+	1	0	0	DNAI2	69789567	69789567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.624000	0.61254	2.735000	0.93741	0.650000	0.86243	GTG	0.502488		TCGA-PZ-A5RE-01A-11D-A32N-08	0.632	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	1	0	1	2	2	2	2	0	0	0	0	69	69	69	69	1	1.910000	-20.000000	1	0.500000	NM_023036		0	99	98	0	288	286	1		1			0	0	69	0	0	1.000000	0	0	0	0	0	0	99	288
DSC3	1825	broad.mit.edu	37	18	28581623	28581623	+	Missense_Mutation	SNP	T	T	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr18:28581623T>A	ENST00000360428.4	-	14	2276	c.2196A>T	c.(2194-2196)ttA>ttT	p.L732F	DSC3_ENST00000434452.1_Missense_Mutation_p.L732F	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	732					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTGATATAATTAAGTTTTGCT	0.299																																						ENST00000360428.4	0.430000	0.200000	3.700000e-01	2.500000e-01	0.300000	0.315558	0.300000	0.310000																										0				56						c.(2194-2196)ttA>ttT		desmocollin 3							97.0	100.0	99.0					18																	28581623		2202	4298	6500	SO:0001583	missense	1825	0	0					g.chr18:28581623T>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2196A>T	chr18.hg19:g.28581623T>A	ENSP00000353608:p.Leu732Phe	1					DSC3_ENST00000434452.1_Missense_Mutation_p.L732F	p.L732F	NM_001941.3	NP_001932.2	0	1	1	1.566312	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)	14	2276	-			A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	1	0	hg19	c.2196A>T	CCDS32810.1	0	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151180	0.38021	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.62639	0.15;0.01	4.48	4.48	0.54585	4.48	4.48	0.54585	.	0.000000	0.27302	N	0.019987	T	0.80959	0.4724	M	0.86420	2.815	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	D	0.84776	0.0770	10	0.87932	D	0	.	13.8919	0.63744	0.0:0.0:0.0:1.0	.	732;732	Q14574;Q14574-2	DSC3_HUMAN;.	F	732	ENSP00000353608:L732F;ENSP00000392068:L732F	ENSP00000353608:L732F	L	-	3	2	2	DSC3	26835621	26835621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.554000	0.45845	2.007000	0.58848	0.455000	0.32223	TTA	0.335548		TCGA-PZ-A5RE-01A-11D-A32N-08	0.299	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	0	2	2	2	2	0	0	0	0	49	49	49	49	1	1.910000	-20.000000	1	0.500000	NM_001941, NM_024423		0	25	0	0	219	215	0		0			0	0	49	0	0	0.999999	0	0	0	0	0	0	25	219
SMAD4	4089	broad.mit.edu	37	18	48604785	48604785	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr18:48604785T>C	ENST00000342988.3	+	12	2145	c.1607T>C	c.(1606-1608)cTa>cCa	p.L536P	SMAD4_ENST00000588745.1_Missense_Mutation_p.L440P|SMAD4_ENST00000398417.2_Missense_Mutation_p.L536P|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	536	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.L536fs*11(1)|p.L536Q(1)|p.L536fs*14(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CTCCAGCTCCTAGACGAAGTA	0.488																																						ENST00000342988.3	1.000000	0.800000	9.900000e-01	8.700000e-01	0.930000	0.931658	0.930000	1.000000																										41	Whole gene deletion(36)|Deletion - Frameshift(2)|Unknown(2)|Substitution - Missense(1)	p.0?(36)|p.?(2)|p.L536fs*11(1)|p.L536Q(1)|p.L536fs*14(1)	pancreas(27)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454	GRCh37	CI057962	SMAD4	I		c.(1606-1608)cTa>cCa		SMAD family member 4							80.0	82.0	82.0					18																	48604785		2203	4300	6503	SO:0001583	missense	4089	0	0					g.chr18:48604785T>C	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1607T>C	chr18.hg19:g.48604785T>C	ENSP00000341551:p.Leu536Pro	1					SMAD4_ENST00000588745.1_Missense_Mutation_p.L440P|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.L536P	p.L536P	NM_005359.5	NP_005350.1	0	1	1	1.566312	Q13485	SMAD4_HUMAN		12	2145	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Missense_Mutation	SNP	ENST00000342988.3	1	1	hg19	c.1607T>C	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502174	0.64298	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98474	-4.95;-4.95	6.07	6.07	0.98685	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	536	Q13485	SMAD4_HUMAN	P	536	ENSP00000341551:L536P;ENSP00000381452:L536P	ENSP00000341551:L536P	L	+	2	0	0	SMAD4	46858783	46858783	1.000000	0.71417	0.464000	0.27143	0.963000	0.63663	7.856000	0.86956	2.326000	0.78906	0.533000	0.62120	CTA	0.335548		TCGA-PZ-A5RE-01A-11D-A32N-08	0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	2	2	2	2	0	0	0	0	58	58	58	57	1	1.910000	-20.000000	1	0.500000	NM_005359		0	113	111	0	239	236	1		1	1	1	0	0	58	342	0	1.000000	1	1	32	52	31	107	113	239
ACTL9	284382	broad.mit.edu	37	19	8808041	8808041	+	Silent	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:8808041G>A	ENST00000324436.3	-	1	1131	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	337						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGAGAAGCACGTTTTGGGCCA	0.672																																						ENST00000324436.3	1.000000	0.850000	1	9.400000e-01	0.990000	0.980471	0.990000	1.000000																										0				36						c.(1009-1011)aaC>aaT		actin-like 9							36.0	36.0	36.0					19																	8808041		2200	4297	6497	SO:0001819	synonymous_variant	284382	3	121362	37				g.chr19:8808041G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1011C>T	chr19.hg19:g.8808041G>A		0						p.N337N	NM_178525.3	NP_848620.3	0	1	1	2.038162	Q8TC94	ACTL9_HUMAN		1	1131	-			A8K893|Q6X960	Silent	SNP	ENST00000324436.3	1	1	hg19	c.1011C>T	CCDS12207.1	1																																																																																								0.498747		TCGA-PZ-A5RE-01A-11D-A32N-08	0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	2	2	2	2	0	0	0	0	73	73	73	70	1	1.910000	-20.000000	1	0.500000	NM_178525		0	88	89	0	249	243	1		1			0	0	73	0	0	1.000000	0	0	0	0	0	0	88	249
SSBP4	170463	broad.mit.edu	37	19	18545046	18545046	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:18545046T>C	ENST00000270061.7	+	18	1442	c.1148T>C	c.(1147-1149)aTg>aCg	p.M383T	SSBP4_ENST00000599699.2_Missense_Mutation_p.M69T|SSBP4_ENST00000348495.6_Missense_Mutation_p.M361T	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	383						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GGGATGACCATGAGCGTGTGA	0.716																																						ENST00000270061.7	0.980000	0.680000	9.100000e-01	7.500000e-01	0.820000	0.833955	0.820000	0.830000																										0				4						c.(1147-1149)aTg>aCg		single stranded DNA binding protein 4							21.0	28.0	25.0					19																	18545046		2179	4267	6446	SO:0001583	missense	170463	0	0					g.chr19:18545046T>C		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.1148T>C	chr19.hg19:g.18545046T>C	ENSP00000270061:p.Met383Thr	0					SSBP4_ENST00000348495.6_Missense_Mutation_p.M361T|SSBP4_ENST00000599699.2_Missense_Mutation_p.M69T	p.M383T	NM_032627.4	NP_116016.1	0	0	0	2.026054	Q9BWG4	SSBP4_HUMAN		18	1442	+			Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	1	1	hg19	c.1148T>C	CCDS12378.1	0	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438264	0.62955	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.5	2.36	0.29203	3.5	2.36	0.29203	.	0.000000	0.85682	U	0.000000	T	0.65964	0.2742	L	0.58101	1.795	0.46416	D	0.999039	D;D	0.76494	0.999;0.996	D;D	0.79108	0.992;0.967	T	0.66480	-0.5913	9	0.87932	D	0	-9.8727	5.5046	0.16846	0.2473:0.0:0.0:0.7527	.	361;383	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	T	383;361	.	ENSP00000270061:M383T	M	+	2	0	0	SSBP4	18406046	18406046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.606000	0.46291	1.393000	0.46605	0.397000	0.26171	ATG	0.494949		TCGA-PZ-A5RE-01A-11D-A32N-08	0.716	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	1	0	1	2	2	2	2	0	0	0	0	66	66	66	66	1	1.910000	-20.000000	1	0.500000	NM_032627		0	89	88	0	335	330	0		1	1		0	0	66	0	0	1.000000	1	0	87	0	179	0	89	335
PADI3	51702	broad.mit.edu	37	1	17593247	17593247	+	Missense_Mutation	SNP	G	G	A	rs556844138		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:17593247G>A	ENST00000375460.3	+	5	482	c.442G>A	c.(442-444)Ggc>Agc	p.G148S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGGTATGGCGGCATCTTGCT	0.597																																						ENST00000375460.3	1.000000	0.870000	1	9.400000e-01	0.990000	0.982391	0.990000	1.000000																										0				32						c.(442-444)Ggc>Agc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						165.0	134.0	145.0					1																	17593247		2203	4300	6503	SO:0001583	missense	51702	4	121412	38				g.chr1:17593247G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.442G>A	chr1.hg19:g.17593247G>A	ENSP00000364609:p.Gly148Ser	0						p.G148S	NM_016233.2	NP_057317.2	1	2	3	2.076294	Q9ULW8	PADI3_HUMAN		5	482	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	1	1	hg19	c.442G>A	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146291	0.77888	.	.	ENSG00000142619	ENST00000375460	T	0.13538	2.58	5.15	5.15	0.70609	5.15	5.15	0.70609	Protein-arginine deiminase (PAD), central domain (2);	0.052990	0.85682	D	0.000000	T	0.08846	0.0219	N	0.08118	0	0.40351	D	0.97913	B	0.32128	0.357	B	0.28139	0.086	T	0.26608	-1.0098	10	0.87932	D	0	-23.3232	17.1987	0.86900	0.0:0.0:1.0:0.0	.	148	Q9ULW8	PADI3_HUMAN	S	148	ENSP00000364609:G148S	ENSP00000364609:G148S	G	+	1	0	0	PADI3	17465834	17465834	1.000000	0.71417	0.655000	0.29622	0.831000	0.47069	8.699000	0.91316	2.403000	0.81681	0.561000	0.74099	GGC	0.502488		TCGA-PZ-A5RE-01A-11D-A32N-08	0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1	1	0	1	2	2	2	2	0	0	0	0	88	88	88	87	1	1.910000	-6.094170	1	0.500000			0	118	114	0	341	340	1		1	1		0	0	88	0	0	1.000000	9.541041e-01	0	9	0	8	0	118	341
LEPR	3953	broad.mit.edu	37	1	66102496	66102496	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:66102496G>A	ENST00000349533.6	+	20	3481	c.3296G>A	c.(3295-3297)aGg>aAg	p.R1099K	LEPR_ENST00000406510.3_Missense_Mutation_p.R166K	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GACAAGTCAAGGGTATCGTGC	0.398																																						ENST00000349533.6	1.000000	0.880000	1	9.900000e-01	0.990000	0.990063	0.990000	1.000000																										0				36						c.(3295-3297)aGg>aAg		leptin receptor							71.0	69.0	70.0					1																	66102496		2203	4300	6503	SO:0001583	missense	3953	0	0					g.chr1:66102496G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3296G>A	chr1.hg19:g.66102496G>A	ENSP00000330393:p.Arg1099Lys	0					LEPR_ENST00000406510.3_Missense_Mutation_p.R166K	p.R1099K	NM_002303.5	NP_002294.2	1	2	3	2.104892	O15243	OBRG_HUMAN		20	3481	+			Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	1	1	hg19	c.3296G>A	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.071802	0.00379	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.54866	0.55	5.11	2.09	0.27110	5.11	2.09	0.27110	.	1.018570	0.07786	N	0.954206	T	0.15869	0.0382	L	0.54323	1.7	0.09310	N	1	B	0.21905	0.062	B	0.24394	0.053	T	0.32824	-0.9892	10	0.02654	T	1	-0.0346	1.9257	0.03316	0.2335:0.1353:0.4916:0.1395	.	1099	P48357	LEPR_HUMAN	K	1099;166	ENSP00000330393:R1099K	ENSP00000330393:R1099K	R	+	2	0	0	LEPR	65875084	65875084	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.953000	0.29162	0.273000	0.22049	-0.198000	0.12761	AGG	0.507389		TCGA-PZ-A5RE-01A-11D-A32N-08	0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	27	1	1.910000	-5.117961	1	0.500000	NM_002303		0	61	57	0	162	160	1		1			0	0	27	0	0	1.000000	0	0	0	0	0	0	61	162
HFM1	164045	broad.mit.edu	37	1	91782011	91782011	+	Silent	SNP	G	G	A	rs74843031	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:91782011G>A	ENST00000370425.3	-	26	2933	c.2835C>T	c.(2833-2835)atC>atT	p.I945I	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.I624I|HFM1_ENST00000294696.5_Silent_p.I177I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	945	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I945I(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGCATTTACGATTGCATTTG	0.259													G|||	529	0.105631	0.1021	0.1167	5008	,	,		12740	0.1726		0.0746	False		,,,				2504	0.0654					ENST00000370425.3	1.000000	0.740000	1	8.200000e-01	0.910000	0.912492	0.910000	1.000000																										1	Substitution - coding silent(1)	p.I945I(1)	stomach(1)	75						c.(2833-2835)atC>atT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)		G		470,3934	219.7+/-237.4	20,430,1752	85.0	88.0	87.0		2835	4.2	1.0	1	dbSNP_131	87	671,7909	167.8+/-219.5	28,615,3647	no	coding-synonymous	HFM1	NM_001017975.3		48,1045,5399	AA,AG,GG		7.8205,10.6721,8.7877		945/1436	91782011	1141,11843	2202	4290	6492	SO:0001819	synonymous_variant	164045	11502	121388	73				g.chr1:91782011G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2835C>T	chr1.hg19:g.91782011G>A		0					HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Silent_p.I177I|HFM1_ENST00000370424.3_Silent_p.I624I	p.I945I	NM_001017975.3	NP_001017975.3	1	2	3	2.104892	A2PYH4	HFM1_HUMAN		26	2933	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	1	0	hg19	c.2835C>T	CCDS30769.2	1	243	0.11126373626373626	47	0.09552845528455285	53	0.1464088397790055	78	0.13636363636363635	65	0.08575197889182058	G	8.343	0.829136	0.16749	0.106721	0.078205	ENSG00000162669	ENST00000430465	.	.	.	5.07	4.16	0.48862	5.07	4.16	0.48862	.	.	.	.	.	T	0.55305	0.1912	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.58255	-0.7668	3	.	.	.	.	15.3264	0.74168	0.0:0.8534:0.1466:0.0	.	.	.	.	L	157	.	.	S	-	2	0	0	HFM1	91554599	91554599	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.416000	0.59815	1.103000	0.41568	-0.357000	0.07601	TCG	0.507389		TCGA-PZ-A5RE-01A-11D-A32N-08	0.259	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	0	0	1	2	2	2	2	0	0	0	0	56	56	56	56	1	1.910000	-0.812386	0	0.500000	NM_001017975		0	85	84	0	293	291	1		1			0	0	56	0	0	1.000000	0	0	0	0	0	0	85	293
RCSD1	92241	broad.mit.edu	37	1	167666774	167666774	+	Missense_Mutation	SNP	G	G	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:167666774G>T	ENST00000367854.3	+	6	1244	c.913G>T	c.(913-915)Gct>Tct	p.A305S	RCSD1_ENST00000537350.1_Missense_Mutation_p.A275S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	305	RCSD.				cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GGAAAAGCCAGCTGGAGAGGA	0.582																																						ENST00000367854.3	1.000000	0.720000	1	9.300000e-01	0.990000	0.969460	0.990000	1.000000																										0				24						c.(913-915)Gct>Tct		RCSD domain containing 1							24.0	25.0	25.0					1																	167666774		2198	4300	6498	SO:0001583	missense	92241	1	121324	24				g.chr1:167666774G>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.913G>T	chr1.hg19:g.167666774G>T	ENSP00000356828:p.Ala305Ser	0					RCSD1_ENST00000537350.1_Missense_Mutation_p.A275S	p.A305S	NM_052862.3	NP_443094.3	1	2	3	2.086841	Q6JBY9	CPZIP_HUMAN		6	1244	+	all_hematologic(923;0.215)		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	1	1	hg19	c.913G>T	CCDS1263.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065111	0.55432	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.41758	0.99;0.99	4.97	0.767	0.18482	4.97	0.767	0.18482	.	0.939217	0.09049	N	0.856052	T	0.12178	0.0296	L	0.27053	0.805	0.22240	N	0.999262	B;P	0.47409	0.288;0.895	B;P	0.50049	0.126;0.629	T	0.02983	-1.1086	9	0.07813	T	0.8	-1.646	1.7031	0.02876	0.2201:0.2709:0.3774:0.1316	.	275;305	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	S	305;275	ENSP00000356828:A305S;ENSP00000439409:A275S	ENSP00000356828:A305S	A	+	1	0	0	RCSD1	165933398	165933398	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	0.435000	0.21510	-0.057000	0.13199	0.585000	0.79938	GCT	0.504950		TCGA-PZ-A5RE-01A-11D-A32N-08	0.582	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	1	0	1	2	2	2	2	0	0	0	0	15	15	15	14	1	1.910000	-20.000000	1	0.500000	NM_052862		0	14	14	0	34	34	1		1	0		0	0	15	0	0	0.999900	9.647741e-01	0	0	0	17	0	14	34
SRC	6714	broad.mit.edu	37	20	36014538	36014538	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr20:36014538C>T	ENST00000373578.2	+	5	660	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SRC_ENST00000360723.4_Missense_Mutation_p.S104F|SRC_ENST00000358208.4_Missense_Mutation_p.S104F|SRC_ENST00000373558.2_Missense_Mutation_p.S104F|SRC_ENST00000373567.2_Missense_Mutation_p.S104F|SRC_ENST00000445403.1_Missense_Mutation_p.S104F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	104	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	ACAGACCTGTCCTTCAAGAAA	0.592																																						ENST00000373578.2	1.000000	0.900000	1	9.600000e-01	0.990000	0.987966	0.990000	1.000000																										0				30						c.(310-312)tCc>tTc		SRC proto-oncogene, non-receptor tyrosine kinase	Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)						184.0	174.0	178.0					20																	36014538		2203	4300	6503	SO:0001583	missense	6714	0	0					g.chr20:36014538C>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.311C>T	chr20.hg19:g.36014538C>T	ENSP00000362680:p.Ser104Phe	0					SRC_ENST00000373567.2_Missense_Mutation_p.S104F|SRC_ENST00000373558.2_Missense_Mutation_p.S104F|SRC_ENST00000360723.4_Missense_Mutation_p.S104F|SRC_ENST00000445403.1_Missense_Mutation_p.S104F|SRC_ENST00000358208.4_Missense_Mutation_p.S104F	p.S104F	NM_198291.1	NP_938033.1	0	0	0	2.044869	P12931	SRC_HUMAN		5	660	+		Myeloproliferative disorder(115;0.00878)	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	1	1	hg19	c.311C>T	CCDS13294.1	1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275714	0.59649	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	3.99	3.99	0.46301	3.99	3.99	0.46301	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.93016	3.37	0.80722	D	1	D	0.63046	0.992	P	0.62089	0.898	T	0.82579	-0.0387	9	.	.	.	.	13.9562	0.64150	0.0:1.0:0.0:0.0	.	104	P12931	SRC_HUMAN	F	104	ENSP00000408503:S104F;ENSP00000362680:S104F;ENSP00000353950:S104F;ENSP00000350941:S104F;ENSP00000362668:S104F;ENSP00000362659:S104F	.	S	+	2	0	0	SRC	35447952	35447952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.761000	0.68801	2.222000	0.72286	0.561000	0.74099	TCC	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.592	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	1	0	1	2	2	2	2	0	0	0	0	144	144	144	143	1	1.910000	-20.000000	1	0.500000	NM_005417		0	223	218	0	645	635	1		1	1		0	0	144	0	0	1.000000	1	0	35	0	48	0	223	645
PFKL	5211	broad.mit.edu	37	21	45744744	45744744	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr21:45744744C>T	ENST00000349048.4	+	18	1876	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N	PFKL_ENST00000403390.1_Silent_p.N654N	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	607	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCAGGTCAACGTGGAGCACA	0.662																																						ENST00000349048.4	1.000000	0.090000	4.300000e-01	1.600000e-01	0.270000	0.313068	0.270000	0.240000																										0				23						c.(1819-1821)aaC>aaT		phosphofructokinase, liver							36.0	32.0	33.0					21																	45744744		2192	4297	6489	SO:0001819	synonymous_variant	5211	1	121170	25				g.chr21:45744744C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1821C>T	chr21.hg19:g.45744744C>T		0					PFKL_ENST00000403390.1_Silent_p.N654N	p.N607N	NM_002626.4	NP_002617.3	1	2	3	2.077640	P17858	PFKAL_HUMAN		18	1876	+			Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	0	1	hg19	c.1821C>T	CCDS33582.1	0																																																																																								0.504950		TCGA-PZ-A5RE-01A-11D-A32N-08	0.662	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1	0	0	0	2	2	2	2	0	0	0	0	10	10	10	10	1	1.910000	-8.428394	1	0.500000			0	4	1	0	62	60	0		0	0		0	0	10	0	0	0.872979	9.999228e-01	0	0	0	542	0	4	62
ANKRD39	51239	broad.mit.edu	37	2	97523690	97523690	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:97523690C>A	ENST00000393537.4	-	1	142	c.35G>T	c.(34-36)tGc>tTc	p.C12F		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	12										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						ATGCGAGCAGCAGGGCCCGTC	0.741																																						ENST00000393537.4	0.940000	0.180000	6.700000e-01	2.900000e-01	0.450000	0.486386	0.450000	0.420000																										0				6						c.(34-36)tGc>tTc		ankyrin repeat domain 39							11.0	11.0	11.0					2																	97523690		2174	4264	6438	SO:0001583	missense	51239	0	0					g.chr2:97523690C>A	BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"""Ankyrin repeat domain containing"""	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.35G>T	chr2.hg19:g.97523690C>A	ENSP00000377170:p.Cys12Phe	0						p.C12F	NM_016466.5	NP_057550.3	1	2	3	2.065166	Q53RE8	ANR39_HUMAN		1	142	-			Q59FU2|Q8N5X5|Q9P0S5	Missense_Mutation	SNP	ENST00000393537.4	0	1	hg19	c.35G>T	CCDS2028.1	0	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705142	0.68615	.	.	ENSG00000213337	ENST00000393537	T	0.66995	-0.24	4.81	4.81	0.61882	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000001	T	0.78285	0.4259	L	0.59436	1.845	0.48395	D	0.999647	D	0.89917	1.0	D	0.76575	0.988	T	0.79546	-0.1759	10	0.59425	D	0.04	-17.3271	14.9126	0.70770	0.0:1.0:0.0:0.0	.	12	Q53RE8	ANR39_HUMAN	F	12	ENSP00000377170:C12F	ENSP00000377170:C12F	C	-	2	0	0	ANKRD39	96887417	96887417	1.000000	0.71417	0.956000	0.39512	0.073000	0.16967	6.187000	0.72039	2.507000	0.84556	0.655000	0.94253	TGC	0.502488		TCGA-PZ-A5RE-01A-11D-A32N-08	0.741	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	0	0	0	2	2	2	2	0	0	0	0	9	9	9	9	1	1.910000	-11.232160	1	0.500000	NM_016466		0	5	0	0	42	41	0		0	0		0	0	9	0	0	0.916293	7.324037e-01	0	0	0	23	0	5	42
DNAH7	56171	broad.mit.edu	37	2	196674543	196674543	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:196674543G>A	ENST00000312428.6	-	52	9914	c.9814C>T	c.(9814-9816)Cgg>Tgg	p.R3272W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3272					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGAGTGACCGGCAGACATTA	0.353																																						ENST00000312428.6	1.000000	0.970000	1	9.900000e-01	0.990000	0.998509	0.990000	1.000000																										0				205						c.(9814-9816)Cgg>Tgg		dynein, axonemal, heavy chain 7							62.0	58.0	59.0					2																	196674543		1839	4089	5928	SO:0001583	missense	56171	4	120800	40				g.chr2:196674543G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9814C>T	chr2.hg19:g.196674543G>A	ENSP00000311273:p.Arg3272Trp	0						p.R3272W	NM_018897.2	NP_061720.2	0	0	0	2.046581	Q8WXX0	DYH7_HUMAN		52	9914	-			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	1	1	hg19	c.9814C>T	CCDS42794.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.115184	0.94339	.	.	ENSG00000118997	ENST00000312428	T	0.80653	-1.4	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96201	0.9145	10	0.87932	D	0	.	19.2483	0.93912	0.0:0.0:1.0:0.0	.	3272	Q8WXX0	DYH7_HUMAN	W	3272	ENSP00000311273:R3272W	ENSP00000311273:R3272W	R	-	1	2	2	DNAH7	196382788	196382788	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.489000	0.97949	2.882000	0.98803	0.655000	0.94253	CGG	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	1	0	1	2	2	2	2	0	0	0	0	20	20	20	20	1	1.910000	-6.950865	1	0.500000	NM_018897		0	74	75	0	172	168	1		1	0		0	0	20	0	0	1.000000	9.230470e-02	0	1	0	1	0	74	172
NBEAL2	23218	broad.mit.edu	37	3	47048744	47048744	+	Missense_Mutation	SNP	C	C	T	rs545640878		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr3:47048744C>T	ENST00000450053.3	+	47	7417	c.7238C>T	c.(7237-7239)gCc>gTc	p.A2413V	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2229V|NBEAL2_ENST00000383740.2_Missense_Mutation_p.A662V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2413					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACTGTGAGTGCCAGTGGGCTG	0.597																																						ENST00000450053.3	1.000000	0.450000	9.100000e-01	5.800000e-01	0.730000	0.743429	0.730000	1.000000																										0				51						c.(7237-7239)gCc>gTc		neurobeachin-like 2							32.0	33.0	33.0					3																	47048744		1980	4154	6134	SO:0001583	missense	23218	1	120882	27				g.chr3:47048744C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7238C>T	chr3.hg19:g.47048744C>T	ENSP00000415034:p.Ala2413Val	0					NBEAL2_ENST00000383740.2_Missense_Mutation_p.A662V|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2229V	p.A2413V	NM_015175.2	NP_055990.1	1	2	3	2.065945	Q6ZNJ1	NBEL2_HUMAN		47	7417	+		Acute lymphoblastic leukemia(5;0.0534)	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	0	1	hg19	c.7238C>T	CCDS46817.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.020153|4.020153	0.75275|0.75275	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.43688|.	0.94;0.95;0.94|.	4.55|4.55	4.55|4.55	0.56014|0.56014	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.117338|.	0.64402|.	D|.	0.000018|.	T|T	0.69115|0.69115	0.3075|0.3075	L|L	0.54323|0.54323	1.7|1.7	0.51482|0.51482	D|D	0.999927|0.999927	D;B|.	0.59767|.	0.986;0.076|.	P;B|.	0.56398|.	0.797;0.04|.	T|T	0.67684|0.67684	-0.5607|-0.5607	10|5	0.30854|.	T|.	0.27|.	.|.	16.0625|16.0625	0.80847|0.80847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2229;2413|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	V|S	2229;662;2413;356|1701	ENSP00000292309:A2229V;ENSP00000373246:A662V;ENSP00000415034:A2413V|.	ENSP00000292309:A2229V|.	A|P	+|+	2|1	0|0	0|0	NBEAL2|NBEAL2	47023748|47023748	47023748|47023748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.385000|4.385000	0.59613|0.59613	2.358000|2.358000	0.79984|0.79984	0.609000|0.609000	0.83330|0.83330	GCC|CCA	0.502488		TCGA-PZ-A5RE-01A-11D-A32N-08	0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	2	2	2	2	0	0	0	0	10	10	10	10	1	1.910000	-20.000000	1	0.500000	XM_291064		0	17	17	0	77	77	1		1	1		0	0	10	0	0	0.999981	9.999994e-01	0	54	0	79	0	17	77
TLR6	10333	broad.mit.edu	37	4	38829687	38829687	+	Missense_Mutation	SNP	C	C	T	rs55833598	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:38829687C>T	ENST00000381950.1	-	1	1473	c.1408G>A	c.(1408-1410)Gta>Ata	p.V470I	TLR6_ENST00000436693.2_Missense_Mutation_p.V470I			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	470					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAGTTTTACGACTTGTTTA	0.383																																						ENST00000381950.1	1.000000	0.740000	9.900000e-01	8.100000e-01	0.890000	0.898503	0.890000	1.000000																										0				22						c.(1408-1410)Gta>Ata		toll-like receptor 6							118.0	129.0	125.0					4																	38829687		2203	4300	6503	SO:0001583	missense	10333	2	121412	49				g.chr4:38829687C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1408G>A	chr4.hg19:g.38829687C>T	ENSP00000371376:p.Val470Ile	0					TLR6_ENST00000436693.2_Missense_Mutation_p.V470I	p.V470I			1	2	3	2.078093	Q9Y2C9	TLR6_HUMAN		1	1473	-			B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	1	0	hg19	c.1408G>A	CCDS3446.1	1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.242853	0.00274	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.56444	0.46;0.46	5.14	-0.835	0.10775	5.14	-0.835	0.10775	.	1.243260	0.05633	N	0.582058	T	0.32734	0.0839	N	0.17631	0.505	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.12430	T	0.62	.	6.6415	0.22911	0.1226:0.2076:0.0:0.6698	.	470	Q9Y2C9	TLR6_HUMAN	I	470	ENSP00000389600:V470I;ENSP00000371376:V470I	ENSP00000371376:V470I	V	-	1	0	0	TLR6	38506082	38506082	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	-2.359000	0.01085	0.282000	0.22254	-1.738000	0.00688	GTA	0.504950		TCGA-PZ-A5RE-01A-11D-A32N-08	0.383	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	1	0	1	2	2	2	2	0	0	0	0	67	67	67	69	1	1.910000	-3.071839	1	0.500000			0	99	96	0	347	331	1		1	0		0	0	67	0	0	1.000000	3.110819e-01	0	0	0	5	0	99	347
DCHS2	54798	broad.mit.edu	37	4	155219098	155219098	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:155219098G>A	ENST00000357232.4	-	18	5002	c.5003C>T	c.(5002-5004)aCg>aTg	p.T1668M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1668	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGAGACCCGTGGTTGTCCT	0.453																																						ENST00000357232.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.998436	0.990000	1.000000																										0				176						c.(5002-5004)aCg>aTg		dachsous cadherin-related 2							74.0	75.0	75.0					4																	155219098		2203	4300	6503	SO:0001583	missense	54798	5	121410	37				g.chr4:155219098G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5003C>T	chr4.hg19:g.155219098G>A	ENSP00000349768:p.Thr1668Met	0						p.T1668M	NM_017639.3	NP_060109.2	1	2	3	2.078093	Q6V1P9	PCD23_HUMAN		18	5002	-	all_hematologic(180;0.208)	Renal(120;0.0854)	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	1	1	hg19	c.5003C>T	CCDS3785.1	1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562678	0.13498	.	.	ENSG00000197410	ENST00000357232	T	0.63744	-0.06	5.82	-0.253	0.12996	5.82	-0.253	0.12996	Cadherin (3);Cadherin-like (1);	0.840880	0.10403	N	0.678873	T	0.50411	0.1614	M	0.84326	2.69	0.09310	N	1	P	0.39737	0.685	B	0.21708	0.036	T	0.42085	-0.9472	10	0.31617	T	0.26	.	2.6536	0.05005	0.2432:0.2088:0.4478:0.1002	.	1668	Q6V1P9	PCD23_HUMAN	M	1668	ENSP00000349768:T1668M	ENSP00000349768:T1668M	T	-	2	0	0	DCHS2	155438548	155438548	0.004000	0.15560	0.000000	0.03702	0.384000	0.30261	0.265000	0.18515	-0.137000	0.11455	0.650000	0.86243	ACG	0.504950		TCGA-PZ-A5RE-01A-11D-A32N-08	0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	2	2	2	2	0	0	0	0	28	28	28	28	1	1.910000	-20.000000	1	0.500000	NM_001142552		0	79	77	0	189	188	1		1	0		0	0	28	0	0	1.000000	0	0	0	0	1	0	79	189
ABCB5	340273	broad.mit.edu	37	7	20744419	20744419	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:20744419C>A	ENST00000404938.2	+	20	3062	c.2410C>A	c.(2410-2412)Caa>Aaa	p.Q804K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q359K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	804	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATATAGCACAAATTCAAGG	0.363																																						ENST00000404938.2	1.000000	0.990000	1	9.900000e-01	0.990000	0.999993	0.990000	1.000000																										0				77						c.(2410-2412)Caa>Aaa		ATP-binding cassette, sub-family B (MDR/TAP), member 5							140.0	132.0	135.0					7																	20744419		2203	4300	6503	SO:0001583	missense	340273	0	0					g.chr7:20744419C>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2410C>A	chr7.hg19:g.20744419C>A	ENSP00000384881:p.Gln804Lys	1					ABCB5_ENST00000258738.6_Missense_Mutation_p.Q359K	p.Q804K	NM_001163941.1	NP_001157413.1	1	2	3	2.557740	Q2M3G0	ABCB5_HUMAN		20	3062	+			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	1	1	hg19	c.2410C>A	CCDS55090.1	1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145226	0.37825	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.88277	-2.36;-2.36	4.66	3.77	0.43336	4.66	3.77	0.43336	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.56097	D	0.000034	D	0.86711	0.5998	L	0.43152	1.355	0.30338	N	0.78601	P;P	0.43701	0.62;0.815	B;P	0.50537	0.223;0.643	T	0.83198	-0.0080	10	0.52906	T	0.07	.	6.0394	0.19726	0.0:0.7051:0.1939:0.1009	.	804;359	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	K	804;359	ENSP00000384881:Q804K;ENSP00000258738:Q359K	ENSP00000258738:Q359K	Q	+	1	0	0	ABCB5	20710944	20710944	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.445000	0.35079	2.591000	0.87537	0.462000	0.41574	CAA	0.599198		TCGA-PZ-A5RE-01A-11D-A32N-08	0.363	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	2	2	2	2	0	0	0	0	31	31	31	31	1	1.910000	-20.000000	1	0.500000	NM_178559		0	59	57	0	133	133	1		1			0	0	31	0	0	1.000000	0	0	0	0	0	0	59	133
ABCB1	5243	broad.mit.edu	37	7	87138667	87138667	+	Missense_Mutation	SNP	C	C	A	rs200196668		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:87138667C>A	ENST00000265724.3	-	27	3830	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1138	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGACACCACCCGGCTGTTGTC	0.512																																						ENST00000265724.3	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				111						c.(3412-3414)cGg>cTg		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)						163.0	146.0	152.0					7																	87138667		2203	4300	6503	SO:0001583	missense	5243	0	0					g.chr7:87138667C>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3413G>T	chr7.hg19:g.87138667C>A	ENSP00000265724:p.Arg1138Leu	1					ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074L|ABCB1_ENST00000488737.2_5'UTR	p.R1138L	NM_000927.4	NP_000918.2	1	2	3	2.553520	P08183	MDR1_HUMAN		27	3830	-	Esophageal squamous(14;0.00164)		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	1	1	hg19	c.3413G>T	CCDS5608.1	1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789644	0.70337	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88586	-2.39;-2.4	6.06	6.06	0.98353	6.06	6.06	0.98353	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.052964	0.64402	D	0.000001	D	0.89280	0.6670	N	0.25426	0.745	0.80722	D	1	P;D	0.63880	0.933;0.993	P;P	0.54401	0.701;0.751	D	0.90156	0.4224	10	0.87932	D	0	-11.022	19.6164	0.95636	0.0:1.0:0.0:0.0	.	1074;1138	B5AK60;P08183	.;MDR1_HUMAN	L	919;1138;1074	ENSP00000265724:R1138L;ENSP00000444095:R1074L	ENSP00000265724:R1138L	R	-	2	0	0	ABCB1	86976603	86976603	1.000000	0.71417	0.973000	0.42090	0.768000	0.43524	4.938000	0.63519	2.871000	0.98454	0.655000	0.94253	CGG	0.600000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.512	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1	2	2	2	2	0	0	0	0	81	81	81	81	1	1.910000	-19.999760	1	0.500000	NM_000927		0	219	218	0	378	371	1		1	1		0	0	81	0	0	1.000000	9.999875e-01	0	16	0	16	0	219	378
AZGP1	563	broad.mit.edu	37	7	99564799	99564799	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:99564799C>T	ENST00000292401.4	-	4	860	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	242	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACCTCGCCGGCCCGAGTCCAG	0.582																																						ENST00000292401.4	1.000000	0.770000	9.900000e-01	8.600000e-01	0.930000	0.926127	0.930000	0.990000																										0				16						c.(724-726)Gcc>Acc		alpha-2-glycoprotein 1, zinc-binding							44.0	37.0	39.0					7																	99564799		2203	4298	6501	SO:0001583	missense	563	0	0					g.chr7:99564799C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.724G>A	chr7.hg19:g.99564799C>T	ENSP00000292401:p.Ala242Thr	1					AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	p.A242T	NM_001185.3	NP_001176.1	0	1	1	1.524028	P25311	ZA2G_HUMAN		4	860	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	0	1	hg19	c.724G>A	CCDS5680.1	1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390198	0.25118	.	.	ENSG00000160862	ENST00000292401	T	0.02812	4.15	2.17	2.17	0.27698	2.17	2.17	0.27698	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.894418	0.09063	U	0.853996	T	0.04137	0.0115	L	0.42245	1.32	0.21386	N	0.999706	B	0.22683	0.073	B	0.32928	0.155	T	0.42632	-0.9440	10	0.87932	D	0	.	5.3065	0.15807	0.0:0.8132:0.0:0.1868	.	242	P25311	ZA2G_HUMAN	T	242	ENSP00000292401:A242T	ENSP00000292401:A242T	A	-	1	0	0	AZGP1	99402735	99402735	0.000000	0.05858	0.040000	0.18447	0.040000	0.13550	-0.072000	0.11486	1.130000	0.42092	0.313000	0.20887	GCC	0.333333		TCGA-PZ-A5RE-01A-11D-A32N-08	0.582	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	1	0	1	2	2	2	2	0	0	0	0	32	32	32	35	1	1.910000	-20.000000	1	0.500000	NM_001185		0	49	47	0	90	86	1		1	1		0	0	32	0	0	1.000000	9.999996e-01	0	42	0	6	0	49	90
DLGAP2	9228	broad.mit.edu	37	8	1581003	1581003	+	Missense_Mutation	SNP	C	C	T	rs370260485		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:1581003C>T	ENST00000421627.2	+	5	1495	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	533					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GTGAGCGAGGCGGAGATCAAT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20987	0.0		0.0	False		,,,				2504	0.0					ENST00000421627.2	1.000000	0.850000	1	9.900000e-01	0.990000	0.988810	0.990000	1.000000																										0				41						c.(1360-1362)gCg>gTg		discs, large (Drosophila) homolog-associated protein 2		C	VAL/ALA	2,4362		0,2,2180	108.0	113.0	112.0		1361	5.1	0.3	8		112	0,8546		0,0,4273	no	missense	DLGAP2	NM_004745.3	64	0,2,6453	TT,TC,CC		0.0,0.0458,0.0155	possibly-damaging	454/976	1581003	2,12908	2182	4273	6455	SO:0001583	missense	9228	9	121270	40				g.chr8:1581003C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1361C>T	chr8.hg19:g.1581003C>T	ENSP00000400258:p.Ala454Val	0						p.A454V	NM_004745.3	NP_004736.2	1	2	3	2.098846	Q9P1A6	DLGP2_HUMAN		5	1495	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	1	1	hg19	c.1361C>T	CCDS47760.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352046|2.352046	0.41700|0.41700	4.58E-4|4.58E-4	0.0|0.0	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	D|.	0.91407|.	-2.84|.	5.06|5.06	5.06|5.06	0.68205|0.68205	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.052101|.	0.85682|.	D|.	0.000000|.	T|T	0.68760|0.68760	0.3036|0.3036	L|L	0.47016|0.47016	1.485|1.485	0.42839|0.42839	D|D	0.99404|0.99404	P;P|.	0.45240|.	0.854;0.773|.	B;B|.	0.42827|.	0.399;0.121|.	T|T	0.65981|0.65981	-0.6036|-0.6036	10|5	0.39692|.	T|.	0.17|.	-15.8913|-15.8913	18.7837|18.7837	0.91946|0.91946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	533;533|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|W	499;454|471	ENSP00000400258:A454V|.	ENSP00000348366:A499V|.	A|R	+|+	2|1	0|2	0|2	DLGAP2|DLGAP2	1568410|1568410	1568410|1568410	1.000000|1.000000	0.71417|0.71417	0.329000|0.329000	0.25429|0.25429	0.132000|0.132000	0.20833|0.20833	7.023000|7.023000	0.76437|0.76437	2.475000|2.475000	0.83589|0.83589	0.555000|0.555000	0.69702|0.69702	GCG|CGG	0.507389		TCGA-PZ-A5RE-01A-11D-A32N-08	0.577	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	2	2	2	2	0	0	0	0	18	18	18	16	1	1.910000	-19.999890	1	0.500000	NM_004745		0	28	28	0	67	67	1		1			0	0	18	0	0	1.000000	0	0	0	0	0	0	28	67
ANK1	286	broad.mit.edu	37	8	41513269	41513269	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:41513269G>A	ENST00000347528.4	-	42	5706	c.5623C>T	c.(5623-5625)Cac>Tac	p.H1875Y	ANK1_ENST00000457297.1_Missense_Mutation_p.H103Y|ANK1_ENST00000352337.4_3'UTR|ANK1_ENST00000289734.7_3'UTR|ANK1_ENST00000314214.8_3'UTR|ANK1_ENST00000522543.1_Missense_Mutation_p.H150Y|ANK1_ENST00000379758.2_Missense_Mutation_p.H1828Y|ANK1_ENST00000396942.1_3'UTR|ANK1_ENST00000396945.1_Missense_Mutation_p.H1800Y|ANK1_ENST00000265709.8_Missense_Mutation_p.H1891Y|ANK1_ENST00000522231.1_Missense_Mutation_p.H125Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1875	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCGAGGTGTGATCCTGGGAG	0.567																																						ENST00000347528.4			0	0																														0				122						c.(5623-5625)Cac>Tac		ankyrin 1, erythrocytic							162.0	146.0	151.0					8																	41513269		2203	4300	6503	SO:0001583	missense	286	0	0					g.chr8:41513269G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5623C>T	chr8.hg19:g.41513269G>A	ENSP00000339620:p.His1875Tyr						ANK1_ENST00000396945.1_Missense_Mutation_p.H1800Y|ANK1_ENST00000289734.7_3'UTR|ANK1_ENST00000457297.1_Missense_Mutation_p.H103Y|ANK1_ENST00000396942.1_3'UTR|ANK1_ENST00000522543.1_Missense_Mutation_p.H150Y|ANK1_ENST00000379758.2_Missense_Mutation_p.H1828Y|ANK1_ENST00000352337.4_3'UTR|ANK1_ENST00000522231.1_Missense_Mutation_p.H125Y|ANK1_ENST00000314214.8_3'UTR|ANK1_ENST00000265709.8_Missense_Mutation_p.H1891Y	p.H1875Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2					P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)	42	5706	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	1	1	hg19	c.5623C>T	CCDS6119.1		.	.	.	.	.	.	.	.	.	.	G	19.62	3.862420	0.71949	.	.	ENSG00000029534	ENST00000347528;ENST00000379758;ENST00000396945;ENST00000457297;ENST00000522231;ENST00000522543;ENST00000265709;ENST00000348036	T;T;T;D;D;T	0.86164	-0.07;-0.04;-0.01;-1.62;-2.08;-0.07	5.14	5.14	0.70334	5.14	5.14	0.70334	.	.	.	.	.	D	0.84325	0.5447	N	0.03608	-0.345	0.80722	D	1	P;B;B;B;B;B;B	0.48294	0.908;0.435;0.232;0.308;0.232;0.435;0.004	D;B;B;B;B;B;B	0.64144	0.922;0.135;0.135;0.064;0.135;0.136;0.004	D	0.86941	0.2079	9	0.41790	T	0.15	.	15.758	0.78051	0.0:0.0:1.0:0.0	.	125;1891;1713;1875;1850;103;150	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;A0PJN8;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.	Y	1875;1828;1800;103;125;150;1891;103	ENSP00000339620:H1875Y;ENSP00000369082:H1828Y;ENSP00000380149:H1800Y;ENSP00000428750:H125Y;ENSP00000430368:H150Y;ENSP00000265709:H1891Y	ENSP00000265709:H1891Y	H	-	1	0	0	ANK1	41632426	41632426	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.123000	0.57917	2.383000	0.81215	0.563000	0.77884	CAC			TCGA-PZ-A5RE-01A-11D-A32N-08	0.567	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1	2	2	2	2	0	0	0	0	59	59	59	57	1	1.910000	-20.000000	1	0.500000	NM_020475		0	116	114	0	212	209	1		1	0		0	0	59	0	0	1.000000	8.343013e-01	0	0	0	8	0	116	212
RUNX1T1	862	broad.mit.edu	37	8	92983007	92983007	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:92983007C>T	ENST00000523629.1	-	11	1872	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	473					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGGGCTTTCCGCTCCGCCTC	0.617																																						ENST00000523629.1	1.000000	0.710000	1	8.000000e-01	0.890000	0.895015	0.890000	1.000000																										0				86						c.(1417-1419)cGg>cAg		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							87.0	69.0	75.0					8																	92983007		2203	4300	6503	SO:0001583	missense	862	2	121412	32				g.chr8:92983007C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1418G>A	chr8.hg19:g.92983007C>T	ENSP00000428543:p.Arg473Gln	0					RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q	p.R473Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	0	0	0	2.047590	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)	11	1872	-			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	1	1	hg19	c.1418G>A	CCDS6256.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672112	0.88348	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.39326	1.205	0.80722	D	1	B;P;B;P	0.45827	0.285;0.824;0.44;0.867	B;B;B;B	0.41412	0.044;0.356;0.02;0.249	T	0.11591	-1.0581	10	0.07990	T	0.79	-15.8283	20.2182	0.98305	0.0:1.0:0.0:0.0	.	484;436;473;446	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	Q	473;446;473;436;436;436;484;446	ENSP00000428543:R473Q;ENSP00000379520:R446Q;ENSP00000265814:R473Q;ENSP00000353504:R436Q;ENSP00000390137:R436Q;ENSP00000428742:R436Q;ENSP00000402257:R484Q;ENSP00000430728:R446Q	ENSP00000265814:R473Q	R	-	2	0	0	RUNX1T1	93052183	93052183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGG	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	1	0	1	2	2	2	2	0	0	0	0	34	34	34	34	1	1.910000	-3.795612	1	0.500000	NM_004349, NM_175635		0	67	66	0	231	230	1		1	0		0	0	34	0	0	1.000000	3.168156e-01	0	0	0	5	0	67	231
MAGEC1	9947	broad.mit.edu	37	X	140993257	140993257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:140993257C>T	ENST00000285879.4	+	4	353	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	23										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGAGTCCTCAGAGTTGTCC	0.567										HNSCC(15;0.026)																												ENST00000285879.4	1.000000	0.970000	1	9.900000e-01	0.990000	0.998550	0.990000	1.000000																										0				127						c.(67-69)Cag>Tag		melanoma antigen family C, 1							69.0	68.0	68.0					X																	140993257		2203	4300	6503	SO:0001587	stop_gained	9947	0	0					g.chrX:140993257C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.67C>T	chrX.hg19:g.140993257C>T	ENSP00000285879:p.Gln23*		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_5'UTR	p.Q23*	NM_005462.4	NP_005453.2	0	1	1		O60732	MAGC1_HUMAN		4	353	+	Acute lymphoblastic leukemia(192;6.56e-05)		A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	0	1	hg19	c.67C>T	CCDS35417.1	1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.779207	0.49891	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	.	.	.	0.149	0.149	0.14863	0.149	0.149	0.14863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	23;23;22	.	ENSP00000285879:Q23X	Q	+	1	0	0	MAGEC1	140820923	140820923	0.009000	0.17119	0.007000	0.13788	0.007000	0.05969	0.156000	0.16382	0.177000	0.19895	0.179000	0.17066	CAG	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	2	2	2	2	0	0	0	0	102	102	102	103	1	1.910000	-9.187218	1	0.500000	NM_005462		0	181	180	0	470	458	1		1			0	0	102	0	0	1.000000	0	0	0	0	0	0	181	470
CCDC120	90060	broad.mit.edu	37	X	48923087	48923087	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:48923087C>A	ENST00000376396.3	+	8	1004	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	CCDC120_ENST00000422185.2_Missense_Mutation_p.P262Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.P297Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.P250Q|CCDC120_ENST00000597275.1_Missense_Mutation_p.P262Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.P262Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	262										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGGCGAACCCCATGGAAACCA	0.652																																						ENST00000376396.3	1.000000	0.740000	1	8.400000e-01	0.950000	0.934758	0.950000	1.000000																										0				14						c.(784-786)cCa>cAa		coiled-coil domain containing 120							22.0	20.0	20.0					X																	48923087		2201	4299	6500	SO:0001583	missense	90060	0	0					g.chrX:48923087C>A	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.785C>A	chrX.hg19:g.48923087C>A	ENSP00000365577:p.Pro262Gln						CCDC120_ENST00000603986.1_Missense_Mutation_p.P297Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.P250Q|CCDC120_ENST00000597275.1_Missense_Mutation_p.P262Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.P262Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.P262Q	p.P262Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	0	1	1		Q96HB5	CC120_HUMAN		8	1004	+			B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	1	1	hg19	c.785C>A	CCDS14316.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424697	0.62733	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.15	3.26	0.37387	5.15	3.26	0.37387	.	0.307063	0.35739	N	0.003002	T	0.39886	0.1095	L	0.34521	1.04	0.31337	N	0.684066	D;D;D;D	0.62365	0.99;0.981;0.981;0.991	P;P;P;P	0.56398	0.797;0.593;0.593;0.593	T	0.38090	-0.9677	9	0.27785	T	0.31	-5.9551	6.3643	0.21445	0.0:0.6106:0.2853:0.1041	.	250;297;250;262	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	Q	262;262;250	.	ENSP00000365577:P262Q	P	+	2	0	0	CCDC120	48810031	48810031	0.979000	0.34478	0.899000	0.35326	0.993000	0.82548	2.661000	0.46758	1.088000	0.41272	0.529000	0.55759	CCA	0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.652	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	1	0	1	2	2	2	2	0	0	0	0	25	25	25	25	1	1.910000	-20.000000	1	0.500000	NM_033626		0	54	54	0	171	169	1		1	0		0	0	25	0	0	1.000000	9.727243e-01	0	0	0	21	0	54	171
SHROOM4	57477	broad.mit.edu	37	X	50378665	50378665	+	Silent	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:50378665G>A	ENST00000289292.7	-	4	691	c.408C>T	c.(406-408)gaC>gaT	p.D136D	SHROOM4_ENST00000376020.2_Silent_p.D136D|SHROOM4_ENST00000460112.3_Silent_p.D20D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	136					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACACACACGTCACTGTAAG	0.572																																						ENST00000289292.7	1.000000	0.990000	1	9.900000e-01	0.990000	0.998872	0.990000	1.000000																										0				52						c.(406-408)gaC>gaT		shroom family member 4							50.0	38.0	42.0					X																	50378665		2203	4300	6503	SO:0001819	synonymous_variant	57477	0	0					g.chrX:50378665G>A	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.408C>T	chrX.hg19:g.50378665G>A							SHROOM4_ENST00000460112.3_Silent_p.D20D|SHROOM4_ENST00000376020.2_Silent_p.D136D	p.D136D			0	1	1		Q9ULL8	SHRM4_HUMAN		4	691	-	Ovarian(276;0.236)		A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	1	1	hg19	c.408C>T	CCDS35277.1	1																																																																																								0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.572	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	2	2	2	2	0	0	0	0	20	20	20	20	1	1.910000	-20.000000	1	0.500000	NM_020717		0	57	56	0	124	123	1		1			0	0	20	0	0	1.000000	0	0	0	0	0	0	57	124
ATP2B3	492	broad.mit.edu	37	X	152808544	152808544	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:152808544C>T	ENST00000349466.2	+	6	1160	c.834C>T	c.(832-834)gcC>gcT	p.A278A	ATP2B3_ENST00000263519.4_Silent_p.A278A|ATP2B3_ENST00000359149.3_Silent_p.A278A|ATP2B3_ENST00000370186.1_Silent_p.A278A|ATP2B3_ENST00000370181.2_Silent_p.A278A|ATP2B3_ENST00000393842.1_Silent_p.A278A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	278					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGACCGCCGTTGGCGTGA	0.532																																						ENST00000349466.2	1.000000	0.970000	1	9.900000e-01	0.990000	0.998403	0.990000	1.000000																										0				50						c.(832-834)gcC>gcT		ATPase, Ca++ transporting, plasma membrane 3							124.0	114.0	117.0					X																	152808544		2203	4300	6503	SO:0001819	synonymous_variant	492	1	121410	35				g.chrX:152808544C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.834C>T	chrX.hg19:g.152808544C>T							ATP2B3_ENST00000263519.4_Silent_p.A278A|ATP2B3_ENST00000370181.2_Silent_p.A278A|ATP2B3_ENST00000370186.1_Silent_p.A278A|ATP2B3_ENST00000359149.3_Silent_p.A278A|ATP2B3_ENST00000393842.1_Silent_p.A278A	p.A278A			0	1	1		Q16720	AT2B3_HUMAN		6	1160	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	1	1	hg19	c.834C>T	CCDS35440.1	1																																																																																								0.500000		TCGA-PZ-A5RE-01A-11D-A32N-08	0.532	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	1	2	2	2	2	0	0	0	0	67	67	67	67	1	1.910000	-8.106357	1	0.500000	NM_021949		0	144	143	0	367	358	1		1			0	0	67	0	0	1.000000	0	0	0	0	0	0	144	367
