#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
PPP1R1B	84152	broad.mit.edu	37	17	37785436	37785451	+	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-	rs139161053	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			GACCAACGCCTGCCAT	-	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	ENST00000254079.4	+	2	564_579	c.95_110delGACCAACGCCTGCCAT	c.(94-111)agaccaacgcctgccatgfs	p.RPTPAM32fs	PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000394267.2_Start_Codon_Del	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	32					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG	0.648																																						ENST00000254079.4	1.000000	1.800000e-01	0.380000	0.230000	0.290000	0.340596	0.290000	0.290000																										1	Substitution - Missense(1)	p.P33A(1)	kidney(1)	5						c.(94-111)agaccaacgcctgccatgfs		protein phosphatase 1, regulatory (inhibitor) subunit 1B																																				SO:0001589	frameshift_variant	84152	0	0					g.chr17:37785436_37785451delGACCAACGCCTGCCAT	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.95_110delGACCAACGCCTGCCAT	chr17.hg19:g.37785436_37785451delGACCAACGCCTGCCAT	ENSP00000254079:p.Arg32fs	0					PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394265.1_Start_Codon_Del	p.RPTPAM32fs	NM_032192.3	NP_115568.2	1	2	3	2.109541	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)	2	564_579	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		Q547V9|Q547W0|Q9H7G1	Frame_Shift_Del	DEL	ENST00000254079.4	1	1	hg19	c.95_110delGACCAACGCCTGCCAT	CCDS11339.1	0																																																																																								0.498599		TCGA-2J-AABH-01A-21D-A40W-08	0.648	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	1	0	1		14	2		0		0	1	80		80	82	1	1.910000	-19.999970	1	0.490000	NM_032192			20	40		266	282	0		1	0		0	0	80	0		0.943352	9.994845e-01		0	0	164	0	20	266
TP53	7157	broad.mit.edu	37	17	7579503	7579503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:7579503delC	ENST00000269305.4	-	4	373	c.184delG	c.(184-186)gaafs	p.E62fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs	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	62	Interaction with HRMT1L2.		E -> D (in a sporadic cancer; 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.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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)	CTGGGAGCTTCATCTGGACCT	0.617		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	0.700000	5.500000e-01	0.670000	0.580000	0.620000	0.629563	0.620000	0.630000		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		28	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(3)|Deletion - In frame(1)	p.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)	lung(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|ovary(3)|liver(2)|urinary_tract(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|pancreas(1)	24185						c.(184-186)gaafs	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						138.0	142.0	140.0					17																	7579503		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579503delC	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.184delG	chr17.hg19:g.7579503delC	ENSP00000269305:p.Glu62fs	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_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs	p.E62fs	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	1.580520	P04637	P53_HUMAN		4	373	-		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	Frame_Shift_Del	DEL	ENST00000269305.4	1	1	hg19	c.184delG	CCDS11118.1	0																																																																																								0.324503		TCGA-2J-AABH-01A-21D-A40W-08	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		14	2	2	0		0	1	302		302	300	1	1.910000	-20.000000	1	0.490000	NM_000546			217	217		846	835	0		1	0	1	0	0	302	638		1.000000	9.969851e-01	1	1	95	35	362	217	846
ANK3	288	broad.mit.edu	37	10	61844558	61844558	+	Silent	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:61844558T>C	ENST00000280772.2	-	32	4067	c.3876A>G	c.(3874-3876)ttA>ttG	p.L1292L	ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000503366.1_Silent_p.L1293L|Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Silent_p.L426L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1292	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCACAGTTTCTAAAACTTGAT	0.363																																						ENST00000280772.2	1.000000	8.200000e-01	1.000000	0.920000	0.990000	0.974674	0.990000	1.000000																										0				196						c.(3874-3876)ttA>ttG		ankyrin 3, node of Ranvier (ankyrin G)							60.0	55.0	57.0					10																	61844558		2203	4300	6503	SO:0001819	synonymous_variant	288	0	0					g.chr10:61844558T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3876A>G	chr10.hg19:g.61844558T>C		0					ANK3_ENST00000355288.2_Silent_p.L426L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000503366.1_Silent_p.L1293L|Y_RNA_ENST00000365320.1_RNA	p.L1292L	NM_020987.3	NP_066267.2	1	2	3	2.111558	Q12955	ANK3_HUMAN		32	4067	-			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	1	1	hg19	c.3876A>G	CCDS7258.1	1																																																																																								0.498599		TCGA-2J-AABH-01A-21D-A40W-08	0.363	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1		2	2	2	0		0	0	105		105	104	1	1.910000	-20.000000	1	0.490000	NM_020987			67	66		202	201	1		1	1		0	0	105	0		1.000000	9.321418e-01	0	3	0	13	0	67	202
CCAR1	55749	broad.mit.edu	37	10	70516196	70516196	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:70516196G>A	ENST00000265872.6	+	14	1911	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	598					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCAGCAGCTGGTCGAGAAGCT	0.522																																						ENST00000265872.6	1.000000	6.800000e-01	1.000000	0.840000	0.990000	0.945260	0.990000	1.000000																										0				56						c.(1792-1794)Gtc>Atc		cell division cycle and apoptosis regulator 1							96.0	92.0	94.0					10																	70516196		2203	4300	6503	SO:0001583	missense	55749	0	0					g.chr10:70516196G>A	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1792G>A	chr10.hg19:g.70516196G>A	ENSP00000265872:p.Val598Ile	0					MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR	p.V598I	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	1	2	3	2.111558	Q8IX12	CCAR1_HUMAN		14	1911	+			A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	1	1	hg19	c.1792G>A	CCDS7282.1	1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035173	0.35893	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.42513	1.64;0.97;0.97;0.97;0.97;0.97	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.264375	0.37669	N	0.001989	T	0.26521	0.0648	N	0.04508	-0.205	0.44073	D	0.996823	B;B;B	0.21606	0.058;0.021;0.011	B;B;B	0.22152	0.015;0.038;0.017	T	0.07404	-1.0774	10	0.38643	T	0.18	-0.3118	18.9513	0.92642	0.0:0.0:1.0:0.0	.	583;598;572	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	I	598;583;583;583;572;403	ENSP00000265872:V598I;ENSP00000441820:V583I;ENSP00000445254:V583I;ENSP00000439252:V583I;ENSP00000438610:V572I;ENSP00000439642:V403I	ENSP00000265872:V598I	V	+	1	0	0	CCAR1	70186202	70186202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.488000	0.83962	0.585000	0.79938	GTC	0.498599		TCGA-2J-AABH-01A-21D-A40W-08	0.522	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	1	0	1		2	2	2	0		0	0	37		37	36	1	1.910000	-20.000000	1	0.490000	NM_018237			21	20		64	63	1		1	1		0	0	37	0		0.999999	9.999986e-01	0	14	0	67	0	21	64
B3GAT3	26229	broad.mit.edu	37	11	62389371	62389371	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62389371T>A	ENST00000265471.5	-	1	276	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	B3GAT3_ENST00000531383.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	17					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGCCGGCGATCGACACCAGG	0.746																																						ENST00000265471.5	1.000000	6.900000e-01	1.000000	0.820000	0.950000	0.925197	0.950000	1.000000																										0				12						c.(49-51)Atc>Ttc		beta-1,3-glucuronyltransferase 3							45.0	41.0	42.0					11																	62389371		2202	4296	6498	SO:0001583	missense	26229	0	0					g.chr11:62389371T>A	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.49A>T	chr11.hg19:g.62389371T>A	ENSP00000265471:p.Ile17Phe	0					B3GAT3_ENST00000531383.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	p.I17F	NM_012200.3	NP_036332.2	0	0	0	2.046728	O94766	B3GA3_HUMAN		1	276	-			B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	1	1	hg19	c.49A>T	CCDS8025.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077236	0.76415	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64803	-0.09;-0.11;-0.12;0.83	4.99	2.62	0.31277	4.99	2.62	0.31277	.	1.133970	0.06543	N	0.743641	T	0.39708	0.1088	N	0.08118	0	0.37300	D	0.908636	B;B	0.20671	0.047;0.028	B;B	0.22601	0.04;0.007	T	0.41324	-0.9515	10	0.25751	T	0.34	.	4.5387	0.12047	0.0:0.1041:0.2165:0.6794	.	17;17	B7ZAB3;O94766	.;B3GA3_HUMAN	F	17	ENSP00000265471:I17F;ENSP00000431359:I17F;ENSP00000432474:I17F;ENSP00000432854:I17F	ENSP00000265471:I17F	I	-	1	0	0	B3GAT3	62145947	62145947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.014000	0.40951	0.941000	0.37499	0.459000	0.35465	ATC	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.746	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	1	0	1		2	2	2	0		0	0	47		47	47	1	1.910000	-20.000000	1	0.490000	NM_012200			35	35		114	111	0		1	1		0	0	47	0		1.000000	9.999068e-01	0	11	0	40	0	35	114
POLR2G	5436	broad.mit.edu	37	11	62533969	62533969	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62533969T>C	ENST00000301788.7	+	8	614	c.509T>C	c.(508-510)cTt>cCt	p.L170P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	170					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)|nucleotide-excision repair (GO:0006289)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|translation initiation factor binding (GO:0031369)			lung(3)	3						TTCGCAGGGCTTGTAAGCTGA	0.488																																						ENST00000301788.7	1.000000	8.000000e-01	1.000000	0.910000	0.990000	0.970593	0.990000	1.000000																										0				3						c.(508-510)cTt>cCt		polymerase (RNA) II (DNA directed) polypeptide G							188.0	158.0	168.0					11																	62533969		2201	4299	6500	SO:0001583	missense	5436	0	0					g.chr11:62533969T>C	U20659	CCDS31585.1	11q13.1	2013-01-21			ENSG00000168002	ENSG00000168002		"""RNA polymerase subunits"""	9194	protein-coding gene	gene with protein product		602013				7579693, 9256063	Standard	NM_002696		Approved	hRPB19, hsRPB7, RPB7	uc001nva.3	P62487	OTTHUMG00000167609	ENST00000301788.7:c.509T>C	chr11.hg19:g.62533969T>C	ENSP00000301788:p.Leu170Pro	0						p.L170P	NM_002696.2	NP_002687.1	0	0	0	2.046728	P62487	RPB7_HUMAN		8	614	+			B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	1	1	hg19	c.509T>C	CCDS31585.1	1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933223	0.52866	.	.	ENSG00000168002	ENST00000301788	T	0.60672	0.17	5.94	5.94	0.96194	5.94	5.94	0.96194	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.322319	0.28241	N	0.016070	T	0.51041	0.1651	L	0.42487	1.325	0.80722	D	1	P	0.52316	0.952	B	0.43623	0.425	T	0.49447	-0.8939	10	0.30078	T	0.28	-22.2904	12.7857	0.57504	0.0:0.0:0.0:1.0	.	170	P62487	RPB7_HUMAN	P	170	ENSP00000301788:L170P	ENSP00000301788:L170P	L	+	2	0	0	POLR2G	62290545	62290545	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	3.560000	0.53763	2.276000	0.75962	0.455000	0.32223	CTT	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.488	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	1	0	1		2	2	2	0		0	0	68		68	68	1	1.910000	-20.000000	1	0.490000	NM_002696			53	52		155	153	1		1	1		0	0	68	0		1.000000	1	0	73	0	262	0	53	155
SLCO2B1	11309	broad.mit.edu	37	11	74915507	74915507	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:74915507C>T	ENST00000289575.5	+	14	2407	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	671					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTAGTTTTGGCTGTCCTGAGG	0.542																																						ENST00000289575.5	0.140000	1.000000e-02	0.100000	0.030000	0.050000	0.077091	0.050000	0.060000																										0				39						c.(2011-2013)gCt>gTt		solute carrier organic anion transporter family, member 2B1	Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)						128.0	111.0	117.0					11																	74915507		2200	4293	6493	SO:0001583	missense	11309	0	0					g.chr11:74915507C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.2012C>T	chr11.hg19:g.74915507C>T	ENSP00000289575:p.Ala671Val	0					SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	p.A671V	NM_007256.4	NP_009187	1	2	3	2.074030	O94956	SO2B1_HUMAN		14	2407	+			A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	0	1	hg19	c.2012C>T	CCDS8235.1	0	.	.	.	.	.	.	.	.	.	.	C	1.614	-0.523235	0.04141	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.80304	0.35;-1.36;-1.36;-1.36;-1.36;0.35	5.6	1.23	0.21249	5.6	1.23	0.21249	Major facilitator superfamily domain, general substrate transporter (1);	0.587955	0.17573	N	0.169406	T	0.60753	0.2293	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.15052	0.008;0.012;0.006	T	0.46386	-0.9195	10	0.27082	T	0.32	.	6.9803	0.24700	0.0:0.5805:0.0:0.4195	.	527;444;671	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	V	671;444;555;527;444;649	ENSP00000289575:A671V;ENSP00000341286:A444V;ENSP00000434112:A555V;ENSP00000436324:A527V;ENSP00000389653:A444V;ENSP00000388912:A649V	ENSP00000289575:A671V	A	+	2	0	0	SLCO2B1	74593155	74593155	0.046000	0.20272	0.272000	0.24630	0.055000	0.15305	-0.057000	0.11768	0.558000	0.29135	-0.253000	0.11424	GCT	0.492487		TCGA-2J-AABH-01A-21D-A40W-08	0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	0	0	1		2	2	2	0		0	0	112		112	111	1	1.910000	-2.352807	0	0.490000	NM_007256			5	5		354	349	0		1	0		0	0	112	0		0.935636	6.148177e-01	0	0	0	136	0	5	354
PRSS23	11098	broad.mit.edu	37	11	86518765	86518765	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:86518765C>T	ENST00000280258.5	+	2	505	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	27						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGTGCCCCCTGGAAACCC	0.547																																						ENST00000280258.5	1.000000	7.500000e-01	1.000000	0.820000	0.900000	0.909007	0.900000	1.000000																										0				18						c.(79-81)cCc>cTc		protease, serine, 23							121.0	121.0	121.0					11																	86518765		2201	4299	6500	SO:0001583	missense	11098	0	0					g.chr11:86518765C>T	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.80C>T	chr11.hg19:g.86518765C>T	ENSP00000280258:p.Pro27Leu	0					PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	p.P27L	NM_007173.4	NP_009104.1	1	2	3	2.074030	O95084	PRS23_HUMAN		2	505	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	1	1	hg19	c.80C>T	CCDS8278.1	1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566037	0.13560	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.7	0.42460	5.8	3.7	0.42460	.	0.620354	0.16980	N	0.191723	T	0.37544	0.1007	N	0.19112	0.55	0.43296	D	0.995288	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.08249	-1.0731	8	.	.	.	-4.3818	7.5087	0.27560	0.658:0.2362:0.0:0.1058	.	27;27	B4E2J3;O95084	.;PRS23_HUMAN	L	27	.	.	P	+	2	0	0	PRSS23	86196413	86196413	0.106000	0.21978	0.692000	0.30179	0.844000	0.47949	0.285000	0.18883	0.647000	0.30713	0.655000	0.94253	CCC	0.492487		TCGA-2J-AABH-01A-21D-A40W-08	0.547	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	1	0	1		2	2	2	0		0	0	114		114	111	1	1.910000	-3.586658	1	0.490000	NM_007173			100	100		350	345	1		1	1		0	0	114	0		1.000000	1	0	35	0	189	0	100	350
TRPV4	59341	broad.mit.edu	37	12	110230539	110230539	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:110230539G>A	ENST00000418703.2	-	10	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	581					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CAGGACCAGGGCAAAGACCAT	0.587																																						ENST00000418703.2	0.280000	4.000000e-02	0.200000	0.070000	0.130000	0.144921	0.130000	0.120000																										0				35						c.(1741-1743)gCc>gTc		transient receptor potential cation channel, subfamily V, member 4							85.0	67.0	73.0					12																	110230539		2203	4300	6503	SO:0001583	missense	59341	0	0					g.chr12:110230539G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1742C>T	chr12.hg19:g.110230539G>A	ENSP00000406191:p.Ala581Val	1					TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V	p.A581V	NM_001177431.1	NP_001170902.1	0	1	1	1.784759	Q9HBA0	TRPV4_HUMAN		10	1836	-			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	0	1	hg19	c.1742C>T	CCDS9134.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.561025	0.96527	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86420	2.815	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.99;0.938	D;D;D;D;P	0.91635	0.999;0.999;0.999;0.922;0.851	D	0.95065	0.8199	10	0.54805	T	0.06	1.4817	19.1263	0.93386	0.0:0.0:1.0:0.0	.	521;581;474;534;547	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	581;581;534;521;474;521;534;547	ENSP00000406191:A581V;ENSP00000261740:A581V;ENSP00000376480:A534V;ENSP00000319003:A521V;ENSP00000443611:A474V;ENSP00000442738:A521V;ENSP00000442167:A534V;ENSP00000444336:A547V	ENSP00000261740:A581V	A	-	2	0	0	TRPV4	108714922	108714922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.763000	0.94921	0.650000	0.86243	GCC	0.357844		TCGA-2J-AABH-01A-21D-A40W-08	0.587	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	1		2	2	2	0		0	0	40		40	39	1	1.910000	-7.009892	1	0.490000	NM_021625			4	4		104	101	0		1	0		0	0	40	0		0.885013	4.885040e-01	0	0	0	38	0	4	104
NAA25	80018	broad.mit.edu	37	12	112530884	112530884	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:112530884T>C	ENST00000261745.4	-	2	363	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	39						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTATGTTTCTTCAACAGTTTA	0.313																																						ENST00000261745.4	0.200000	5.000000e-02	0.160000	0.070000	0.110000	0.121041	0.110000	0.110000																										0				46						c.(115-117)Aag>Gag		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							138.0	122.0	128.0					12																	112530884		2202	4300	6502	SO:0001583	missense	80018	0	0					g.chr12:112530884T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.115A>G	chr12.hg19:g.112530884T>C	ENSP00000261745:p.Lys39Glu	1						p.K39E	NM_024953.3	NP_079229.2	0	1	1	1.784759	Q14CX7	NAA25_HUMAN		2	363	-			A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	1	1	hg19	c.115A>G	CCDS9159.1	0	.	.	.	.	.	.	.	.	.	.	T	32	5.154751	0.94686	.	.	ENSG00000111300	ENST00000261745	T	0.36340	1.26	5.15	5.15	0.70609	5.15	5.15	0.70609	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.79805	2.47	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.58266	0.836;0.836	T	0.65265	-0.6210	10	0.72032	D	0.01	-16.1726	15.2728	0.73717	0.0:0.0:0.0:1.0	.	39;39	A8K8X0;Q14CX7	.;NAA25_HUMAN	E	39	ENSP00000261745:K39E	ENSP00000261745:K39E	K	-	1	0	0	NAA25	111015267	111015267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.061000	0.61500	0.482000	0.46254	AAG	0.357844		TCGA-2J-AABH-01A-21D-A40W-08	0.313	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	1	0	1		2	2	2	0		0	0	134		134	133	1	1.910000	-10.321650	1	0.490000	NM_024953			9	9		255	250	0		1	0		0	0	134	0		0.993933	2.800828e-02	0	0	0	7	0	9	255
C1S	716	broad.mit.edu	37	12	7177305	7177305	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:7177305G>T	ENST00000406697.1	+	15	2045	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	473	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTGCTGACGGCTGCTCATGT	0.517																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1	1.000000	7.400000e-01	1.000000	0.860000	0.990000	0.950532	0.990000	1.000000																										0				33						c.(1417-1419)Gct>Tct		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						50.0	47.0	48.0					12																	7177305		2203	4300	6503	SO:0001583	missense	716	0	0					g.chr12:7177305G>T		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1417G>T	chr12.hg19:g.7177305G>T	ENSP00000385035:p.Ala473Ser	1					C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000402681.3_Missense_Mutation_p.A306S	p.A473S			2	2	4	2.364243	P09871	C1S_HUMAN		15	2045	+			D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	1	1	hg19	c.1417G>T	CCDS31735.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333322	0.81801	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.03	4.14	0.48551	5.03	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42420	D	0.000716	D	0.96592	0.8888	M	0.73372	2.23	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96958	0.9699	10	0.87932	D	0	.	13.8363	0.63410	0.0739:0.0:0.9261:0.0	.	473	P09871	C1S_HUMAN	S	473;473;473;467;306	ENSP00000385035:A473S;ENSP00000328173:A473S;ENSP00000354057:A473S;ENSP00000384171:A306S	ENSP00000328173:A473S	A	+	1	0	0	C1S	7047566	7047566	1.000000	0.71417	0.066000	0.19879	0.014000	0.08584	7.016000	0.76393	1.341000	0.45600	0.462000	0.41574	GCT	0.559129		TCGA-2J-AABH-01A-21D-A40W-08	0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1		2	2	2	0		0	0	81		81	80	1	1.910000	-20.000000	1	0.490000	NM_001734			45	45		174	170	1		1	1		0	0	81	0		1.000000	1	0	8	0	587	0	45	174
KRAS	3845	broad.mit.edu	37	12	25398284	25398285	+	Missense_Mutation	DNP	CC	CC	AT	rs121913530|rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	A|T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284_25398285CC>AT	ENST00000256078.4	-	2	97_98	c.34_35GG>AT	c.(34-36)GGt>ATt	p.G12I	KRAS_ENST00000311936.3_Missense_Mutation_p.G12I|KRAS_ENST00000557334.1_Missense_Mutation_p.G12I|KRAS_ENST00000556131.1_Missense_Mutation_p.G12I	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		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.G12D(8562)|p.G12V(5775)|p.G12C(3001)|p.G12A(1407)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12N(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)			GCCTACGCCACCAGCTCCAACT	0.347	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_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	6.400000e-01	1.000000	0.780000|0.790000	0.960000|0.970000	0.913888|0.917258	0.960000|0.970000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)|G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	20892	Substitution - Missense(20889)|Insertion - In frame(2)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)|p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(11786)|pancreas(3650)|lung(3132)|ovary(556)|biliary_tract(494)|endometrium(373)|haematopoietic_and_lymphoid_tissue(212)|stomach(145)|thyroid(97)|prostate(70)|small_intestine(56)|upper_aerodigestive_tract(47)|urinary_tract(47)|soft_tissue(42)|cervix(41)|skin(35)|liver(22)|breast(20)|testis(16)|oesophagus(11)|central_nervous_system(8)|peritoneum(6)|kidney(5)|eye(4)|NS(4)|autonomic_ganglia(3)|gastrointestinal_tract_(site_indeterminate)(3)|thymus(3)|penis(1)|adrenal_gland(1)|salivary_gland(1)|bone(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)gGt>gTt|c.(34-36)Ggt>Agt		Kirsten rat sarcoma viral oncogene homolog																																				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.chr12:25398284C>A|g.chr12:25398285C>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.34_35delinsAT	chr12.hg19:g.25398284_25398285delinsAT	ENSP00000256078:p.Gly12Ile	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000311936.3_Missense_Mutation_p.G12S	p.G12V|p.G12S	NM_033360.2	NP_203524.1	2	2	4	2.364243	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)	2	98|97	-	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.35G>T|c.34G>A	CCDS8703.1	1																									5.68	5.68	0.88126																																												0			25289551|25289552														0.559129		TCGA-2J-AABH-01A-21D-A40W-08	0.347	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1|0		2	2	2	0		0	0	71		72|71	72|71	1	1.910000	-17.454930|-17.441480	1	0.490000	NM_033360			26	26		109|108	107|106	1		1	1	1	0	0	72|71	407|405		1.000000	9.953248e-01|9.965362e-01	1	14	47	25|27	256|257	26	108
MPHOSPH9	10198	broad.mit.edu	37	12	123682836	123682836	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:123682836C>T	ENST00000606320.1	-	12	2189	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	MPHOSPH9_ENST00000392425.3_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	661						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CAAGTGTTCTCACGCGACTAG	0.323																																						ENST00000606320.1	1.000000	4.800000e-01	0.900000	0.610000	0.740000	0.758143	0.740000	1.000000																										0				33						c.(1981-1983)gtG>gtA		M-phase phosphoprotein 9							60.0	57.0	58.0					12																	123682836		2203	4298	6501	SO:0001819	synonymous_variant	10198	0	0					g.chr12:123682836C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1983G>A	chr12.hg19:g.123682836C>T		1					MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V	p.V661V			0	1	1	1.784759	Q99550	MPP9_HUMAN		12	2189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	1	1	hg19	c.1983G>A		0																																																																																								0.357844		TCGA-2J-AABH-01A-21D-A40W-08	0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2	1	0	1		2	2	2	0		0	0	57		57	56	1	1.910000	-15.519140	1	0.490000				19	19		62	62	1		1	1		0	0	57	0		0.999996	2.492212e-01	0	2	0	2	0	19	62
ZMYM5	9205	broad.mit.edu	37	13	20409664	20409664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:20409664G>A	ENST00000337963.4	-	7	1468	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	402						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CTCTTCTGCTGACCTCCAATC	0.378																																						ENST00000337963.4	0.240000	3.000000e-02	0.180000	0.070000	0.110000	0.131022	0.110000	0.120000																										0				15						c.(1204-1206)Cag>Tag		zinc finger, MYM-type 5							89.0	76.0	80.0					13																	20409664		1568	3582	5150	SO:0001587	stop_gained	9205	0	0					g.chr13:20409664G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1204C>T	chr13.hg19:g.20409664G>A	ENSP00000337034:p.Gln402*	1						p.Q402*	NM_001142684.1	NP_001136156.1	1	2	3	2.531048	Q9UJ78	ZMYM5_HUMAN		7	1468	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Nonsense_Mutation	SNP	ENST00000337963.4	0	1	hg19	c.1204C>T		0	.	.	.	.	.	.	.	.	.	.	G	37	6.428971	0.97559	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	.	.	.	4.88	4.03	0.46877	4.88	4.03	0.46877	.	0.056814	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.5531	14.9049	0.70711	0.0:0.2714:0.7286:0.0	.	.	.	.	X	402;392	.	ENSP00000337034:Q402X	Q	-	1	0	0	ZMYM5	19307664	19307664	1.000000	0.71417	0.890000	0.34922	0.578000	0.36192	7.270000	0.78493	1.405000	0.46838	-0.314000	0.08810	CAG	0.590361		TCGA-2J-AABH-01A-21D-A40W-08	0.378	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1		2	2	2	0		0	0	66		66	65	1	1.910000	-6.427219	1	0.490000	NM_014242			5	5		225	222	0		1	0		0	0	66	0		0.936051	8.355525e-02	0	0	0	18	0	5	225
OR4E2	26686	broad.mit.edu	37	14	22133993	22133993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:22133993C>T	ENST00000408935.1	+	1	697	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGCTGAAGGGCGCCAGAAAGC	0.527																																						ENST00000408935.1	1.000000	7.100000e-01	1.000000	0.820000	0.930000	0.921587	0.930000	1.000000																										0				15						c.(697-699)Cgc>Tgc		olfactory receptor, family 4, subfamily E, member 2							111.0	104.0	106.0					14																	22133993		1962	4149	6111	SO:0001583	missense	26686	1	120886	39				g.chr14:22133993C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.697C>T	chr14.hg19:g.22133993C>T	ENSP00000386195:p.Arg233Cys	0						p.R233C	NM_001001912.1	NP_001001912.1	0	1	1	2.041482	Q8NGC2	OR4E2_HUMAN		1	697	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	1	1	hg19	c.697C>T	CCDS41916.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718980	0.48622	.	.	ENSG00000221977	ENST00000408935	T	0.00337	8.05	5.59	5.59	0.84812	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001514	T	0.01124	0.0037	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.50499	-0.8821	10	0.87932	D	0	.	12.3913	0.55360	0.1682:0.8318:0.0:0.0	.	233	Q8NGC2	OR4E2_HUMAN	C	233	ENSP00000386195:R233C	ENSP00000386195:R233C	R	+	1	0	0	OR4E2	21203833	21203833	0.001000	0.12720	0.993000	0.49108	0.371000	0.29859	0.040000	0.13905	2.782000	0.95742	0.591000	0.81541	CGC	0.488747		TCGA-2J-AABH-01A-21D-A40W-08	0.527	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1	1	0	1		2	2	2	0		0	0	69		69	68	1	1.910000	-20.000000	1	0.490000				47	47		156	153	1		1			0	0	69	0		1.000000	0	0	0	0	0	0	47	156
MYH7	4625	broad.mit.edu	37	14	23893229	23893229	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:23893229T>C	ENST00000355349.3	-	23	2971	c.2809A>G	c.(2809-2811)Act>Gct	p.T937A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	937					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)		TTCTTGGCAGTGAGCTCAGCA	0.522																																						ENST00000355349.3	1.000000	7.300000e-01	0.960000	0.800000	0.870000	0.883980	0.870000	1.000000																										0				137						c.(2809-2811)Act>Gct		myosin, heavy chain 7, cardiac muscle, beta							242.0	202.0	215.0					14																	23893229		2203	4300	6503	SO:0001583	missense	4625	0	0					g.chr14:23893229T>C	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.2809A>G	chr14.hg19:g.23893229T>C	ENSP00000347507:p.Thr937Ala	0						p.T937A	NM_000257.2	NP_000248.2	0	1	1	2.041482	P12883	MYH7_HUMAN		23	2971	-	all_cancers(95;2.54e-05)		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	1	1	hg19	c.2809A>G	CCDS9601.1	1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247429	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	5.33	5.33	0.75918	5.33	5.33	0.75918	.	.	.	.	.	D	0.90003	0.6879	M	0.85777	2.775	0.58432	D	0.999999	B	0.09022	0.002	B	0.15052	0.012	D	0.87423	0.2383	9	0.44086	T	0.13	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	937	P12883	MYH7_HUMAN	A	937	ENSP00000347507:T937A	ENSP00000347507:T937A	T	-	1	0	0	MYH7	22963069	22963069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.241000	0.73720	0.533000	0.62120	ACT	0.488747		TCGA-2J-AABH-01A-21D-A40W-08	0.522	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1		2	2	2	0		0	0	135		135	134	1	1.910000	-20.000000	1	0.490000	NM_000257			99	96		357	351	1		1	0		0	0	135	0		1.000000	0	0	0	0	1	0	99	357
SYT16	83851	broad.mit.edu	37	14	62547800	62547800	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:62547800C>T	ENST00000430451.2	+	4	1439	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	414	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACCCCGTCTTCAGGGAGAAGG	0.582																																						ENST00000430451.2	1.000000	5.100000e-01	0.970000	0.640000	0.790000	0.798591	0.790000	1.000000																										0				35						c.(1240-1242)ttC>ttT		synaptotagmin XVI							38.0	43.0	41.0					14																	62547800		2155	4270	6425	SO:0001819	synonymous_variant	83851	0	0					g.chr14:62547800C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1242C>T	chr14.hg19:g.62547800C>T		0					RP11-355I22.5_ENST00000553990.1_lincRNA	p.F414F	NM_031914.2	NP_114120.2	1	2	3	2.057585	Q17RD7	SYT16_HUMAN		4	1439	+			B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	1	1	hg19	c.1242C>T	CCDS45121.1	0																																																																																								0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.582	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	1	0	1		2	2	2	0		0	0	29		29	29	1	1.910000	-20.000000	1	0.490000	NM_031914			19	19		79	79	1		1	0		0	0	29	0		0.999996	0	0	1	0	0	0	19	79
ZWILCH	55055	broad.mit.edu	37	15	66832448	66832448	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:66832448G>A	ENST00000307897.5	+	17	1967	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	529					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGAAGCCACAGAAATGGAGAG	0.373																																						ENST00000307897.5	1.000000	8.100000e-01	1.000000	0.890000	0.960000	0.951319	0.960000	1.000000																										0				18						c.(1585-1587)caG>caA		zwilch kinetochore protein							82.0	83.0	83.0					15																	66832448		2201	4299	6500	SO:0001819	synonymous_variant	55055	0	0					g.chr15:66832448G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1587G>A	chr15.hg19:g.66832448G>A		1					ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q	p.Q529Q	NM_017975.3	NP_060445.3	0	1	1	1.610565	Q9H900	ZWILC_HUMAN		17	1967	+			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	1	1	hg19	c.1587G>A	CCDS10219.1	1																																																																																								0.328859		TCGA-2J-AABH-01A-21D-A40W-08	0.373	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	1	0	1		2	2	2	0		0	0	58		58	57	1	1.910000	-20.000000	1	0.490000	NM_017975			60	59		112	111	1		1	1		0	0	58	0		1.000000	9.938210e-01	0	8	0	10	0	60	112
MAPK8IP3	23162	broad.mit.edu	37	16	1811270	1811270	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:1811270G>T	ENST00000250894.4	+	13	1657	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	500					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAAAGAAGAGGCGGAGGATG	0.602																																						ENST00000250894.4	1.000000	8.100000e-01	1.000000	0.880000	0.960000	0.954195	0.960000	1.000000																										0				42						c.(1498-1500)gaG>gaT		mitogen-activated protein kinase 8 interacting protein 3							89.0	96.0	94.0					16																	1811270		1991	4146	6137	SO:0001583	missense	23162	0	0					g.chr16:1811270G>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1500G>T	chr16.hg19:g.1811270G>T	ENSP00000250894:p.Glu500Asp	0					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	p.E500D	NM_015133.3	NP_055948.2	0	0	0	2.036555	Q9UPT6	JIP3_HUMAN		13	1657	+			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	1	1	hg19	c.1500G>T	CCDS10442.2	1	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156321	0.09236	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17691	2.26;2.26	4.75	3.72	0.42706	4.75	3.72	0.42706	.	0.055147	0.64402	D	0.000001	T	0.09598	0.0236	L	0.29908	0.895	0.54753	D	0.999985	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.11665	-1.0578	10	0.07990	T	0.79	-42.6426	7.1817	0.25776	0.0877:0.0:0.7414:0.1709	.	501;494;500	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	D	500;494	ENSP00000250894:E500D;ENSP00000348290:E494D	ENSP00000250894:E500D	E	+	3	2	2	MAPK8IP3	1751271	1751271	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.131000	0.50515	2.195000	0.70347	0.609000	0.83330	GAG	0.487489		TCGA-2J-AABH-01A-21D-A40W-08	0.602	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	1	0	1		11	2	2	0		0	1	167		167	165	1	1.910000	-20.000000	1	0.490000	NM_001040439			107	103		339	328	1		1	1		0	0	167	0		1.000000	9.996640e-01	0	15	0	25	0	107	339
PRRT2	112476	broad.mit.edu	37	16	29824835	29824835	+	Missense_Mutation	SNP	C	C	T	rs571941412	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29824835C>T	ENST00000358758.7	+	2	743	c.460C>T	c.(460-462)Cca>Tca	p.P154S	AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	154	Pro-rich.				neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TACCCCCAAGCCAGCCCTTCA	0.637													C|||	3	0.000599042	0.0	0.0	5008	,	,		14457	0.0		0.0	False		,,,				2504	0.0031					ENST00000358758.7	1.000000	7.200000e-01	1.000000	0.850000	0.990000	0.946392	0.990000	1.000000																										0				8						c.(460-462)Cca>Tca		proline-rich transmembrane protein 2							29.0	33.0	32.0					16																	29824835		2197	4300	6497	SO:0001583	missense	112476	32	121402	42				g.chr16:29824835C>T	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.460C>T	chr16.hg19:g.29824835C>T	ENSP00000351608:p.Pro154Ser	0					AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S|AC009133.14_ENST00000569981.1_RNA	p.P154S	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	0	0	0	2.047530	Q7Z6L0	PRRT2_HUMAN		2	743	+			A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	1	1	hg19	c.460C>T	CCDS10654.1	1	.	.	.	.	.	.	.	.	.	.	C	6.452	0.451562	0.12223	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70516	-0.49;0.42	4.04	1.99	0.26369	4.04	1.99	0.26369	.	0.279462	0.27696	N	0.018240	T	0.47060	0.1425	N	0.14661	0.345	0.21822	N	0.999527	B;B;B	0.24721	0.087;0.03;0.11	B;B;B	0.24006	0.02;0.009;0.05	T	0.32268	-0.9913	10	0.45353	T	0.12	-1.2862	3.9443	0.09341	0.0:0.5684:0.1969:0.2346	.	154;154;154	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	S	154	ENSP00000351608:P154S;ENSP00000300797:P154S	ENSP00000300797:P154S	P	+	1	0	0	PRRT2	29732336	29732336	0.006000	0.16342	0.199000	0.23439	0.760000	0.43138	2.130000	0.42064	0.443000	0.26582	0.563000	0.77884	CCA	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	1	0	1		2	2	2	0		0	0	35		35	33	1	1.910000	-20.000000	1	0.490000	NM_145239			33	32		101	95	1		1	0		0	0	35	0		1.000000	2.632258e-01	0	1	0	3	0	33	101
KRTAP9-3	83900	broad.mit.edu	37	17	39389087	39389087	+	Missense_Mutation	SNP	T	T	G	rs540460002		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39389087T>G	ENST00000411528.2	+	1	373	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	112	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)		p.P114fs*3(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACAAGTGTTTGTCTGCCTGG	0.602																																						ENST00000411528.2	1.000000	8.300000e-01	1.000000	0.910000	0.990000	0.970685	0.990000	1.000000																										1	Deletion - Frameshift(1)	p.P114fs*3(1)	breast(1)	8						c.(334-336)Tgt>Ggt		keratin associated protein 9-3							134.0	151.0	145.0					17																	39389087		2103	4300	6403	SO:0001583	missense	83900	0	0					g.chr17:39389087T>G	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.334T>G	chr17.hg19:g.39389087T>G	ENSP00000392189:p.Cys112Gly	0						p.C112G	NM_031962.2	NP_114168.1	1	2	3	2.109541	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)	1	373	+		Breast(137;0.000496)		Missense_Mutation	SNP	ENST00000411528.2	1	1	hg19	c.334T>G	CCDS11385.1	1	.	.	.	.	.	.	.	.	.	.	.	9.806	1.181974	0.21787	.	.	ENSG00000204873	ENST00000411528	T	0.01647	4.71	2.42	-0.28	0.12886	2.42	-0.28	0.12886	.	.	.	.	.	T	0.04182	0.0116	M	0.86805	2.84	0.09310	N	1	.	.	.	.	.	.	T	0.36089	-0.9762	7	0.16420	T	0.52	.	3.9176	0.09230	0.0:0.1391:0.2145:0.6464	.	.	.	.	G	112	ENSP00000392189:C112G	ENSP00000392189:C112G	C	+	1	0	0	KRTAP9-3	36642613	36642613	0.015000	0.18098	0.000000	0.03702	0.007000	0.05969	-0.267000	0.08619	-0.256000	0.09473	0.329000	0.21502	TGT	0.498599		TCGA-2J-AABH-01A-21D-A40W-08	0.602	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1	1	0	1		2	2	2	0		0	0	138		138	136	1	1.910000	-20.000000	1	0.490000				89	88		277	272	1		1			0	0	138	0		1.000000	0	0	0	0	0	0	89	277
HDAC5	10014	broad.mit.edu	37	17	42160137	42160137	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:42160137C>A	ENST00000393622.2	-	19	2846	c.2515G>T	c.(2515-2517)Gcc>Tcc	p.A839S	HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S|HDAC5_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	839	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		ACTCACATGGCTGTGGATTCC	0.602																																						ENST00000393622.2	1.000000	1.500000e-01	0.850000	0.290000	0.510000	0.554074	0.510000	1.000000																										0				21						c.(2515-2517)Gcc>Tcc		histone deacetylase 5							85.0	61.0	69.0					17																	42160137		2200	4299	6499	SO:0001583	missense	10014	0	0					g.chr17:42160137C>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2515G>T	chr17.hg19:g.42160137C>A	ENSP00000377244:p.Ala839Ser	0					HDAC5_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S	p.A839S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	1	2	3	2.109541	Q9UQL6	HDAC5_HUMAN		19	2846	-		Breast(137;0.00637)|Prostate(33;0.0313)	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	0	1	hg19	c.2515G>T	CCDS45696.1	0	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949580	0.92660	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.72282	-0.64;-0.64;-0.64	5.4	4.44	0.53790	5.4	4.44	0.53790	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.83478	0.5263	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.62365	0.99;0.99;0.981;0.991	D;D;D;D	0.81914	0.995;0.988;0.971;0.991	D	0.85438	0.1153	10	0.72032	D	0.01	.	12.7136	0.57103	0.0:0.9198:0.0:0.0802	.	754;839;840;839	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	S	840;839;754	ENSP00000225983:A840S;ENSP00000377244:A839S;ENSP00000337290:A754S	ENSP00000225983:A840S	A	-	1	0	0	HDAC5	39515663	39515663	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	4.016000	0.57159	1.295000	0.44724	0.655000	0.94253	GCC	0.498599		TCGA-2J-AABH-01A-21D-A40W-08	0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	0	0	0		2	2	2	0		0	0	10		10	10	1	1.910000	-8.489199	1	0.490000	NM_001015053			3	1		25	25	0		0	0		0	0	10	0		0.788350	9.967434e-01	0	0	0	139	0	3	25
GRIN3B	116444	broad.mit.edu	37	19	1005311	1005311	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1005311C>T	ENST00000234389.3	+	3	1830	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	604					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACGGCCTCACGCCACGTGGC	0.662																																						ENST00000234389.3	1.000000	7.300000e-01	1.000000	0.820000	0.920000	0.918713	0.920000	1.000000																										0				11						c.(1810-1812)aCg>aTg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)						90.0	79.0	83.0					19																	1005311		2203	4300	6503	SO:0001583	missense	116444	12	121396	42				g.chr19:1005311C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1811C>T	chr19.hg19:g.1005311C>T	ENSP00000234389:p.Thr604Met	0					AC004528.4_ENST00000588380.1_RNA	p.T604M	NM_138690.1	NP_619635.1	0	1	1	2.037121	O60391	NMD3B_HUMAN		3	1830	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	1	1	hg19	c.1811C>T	CCDS32861.1	1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988790	0.53934	.	.	ENSG00000116032	ENST00000234389	T	0.54479	0.57	4.36	4.36	0.52297	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.79475	2.455	0.47308	D	0.999383	D	0.89917	1.0	D	0.97110	1.0	T	0.77965	-0.2389	10	0.87932	D	0	.	15.515	0.75815	0.0:1.0:0.0:0.0	.	604	O60391	NMD3B_HUMAN	M	604	ENSP00000234389:T604M	ENSP00000234389:T604M	T	+	2	0	0	GRIN3B	956311	956311	1.000000	0.71417	0.993000	0.49108	0.178000	0.23041	7.671000	0.83941	2.012000	0.59069	0.306000	0.20318	ACG	0.488747		TCGA-2J-AABH-01A-21D-A40W-08	0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	1	0	1		2	2	2	0		0	0	107		107	104	1	1.910000	-20.000000	1	0.490000				60	61		202	197	1		1			0	0	107	0		1.000000	0	0	0	0	0	0	60	202
C19orf26	255057	broad.mit.edu	37	19	1236016	1236016	+	Silent	SNP	G	G	A	rs146688767		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1236016G>A	ENST00000382477.2	-	2	340	c.66C>T	c.(64-66)gaC>gaT	p.D22D	AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000590083.1_Silent_p.D28D			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	22	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGGCATTGTCCCACGACG	0.687										HNSCC(14;0.022)																												ENST00000382477.2	1.000000	8.100000e-01	1.000000	0.940000	0.990000	0.977429	0.990000	1.000000																										0				9						c.(64-66)gaC>gaT		chromosome 19 open reading frame 26		G		0,4402		0,0,2201	53.0	41.0	45.0		66	4.2	1.0	19	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	C19orf26	NM_152769.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		22/448	1236016	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	255057	3	120820	37				g.chr19:1236016G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.66C>T	chr19.hg19:g.1236016G>A		0	HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000590083.1_Silent_p.D28D|AC004221.2_ENST00000592843.1_lincRNA	p.D22D			0	1	1	2.037121	Q8N350	DOS_HUMAN		2	340	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	O43385	Silent	SNP	ENST00000382477.2	1	1	hg19	c.66C>T		1																																																																																								0.488747		TCGA-2J-AABH-01A-21D-A40W-08	0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	52		52	49	1	1.910000	-20.000000	1	0.490000	NM_152769			41	40		113	113	0		1			0	0	52	0		1.000000	0	0	0	0	0	0	41	113
RYR1	6261	broad.mit.edu	37	19	38994959	38994959	+	Missense_Mutation	SNP	C	C	T	rs193922826		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:38994959C>T	ENST00000359596.3	+	50	8026	c.8026C>T	c.(8026-8028)Cgg>Tgg	p.R2676W	RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000355481.4_Missense_Mutation_p.R2676W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2676	6 X approximate repeats.		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001). {ECO:0000269|PubMed:14732627, ECO:0000269|PubMed:16163667, ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCACCTCACACGGAAACTCTT	0.582																																						ENST00000359596.3	1.000000	9.900000e-01	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				285	GRCh37	CM044255	RYR1	M		c.(8026-8028)Cgg>Tgg		ryanodine receptor 1 (skeletal)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)						75.0	67.0	70.0					19																	38994959		2203	4300	6503	SO:0001583	missense	6261	1	121412	28				g.chr19:38994959C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8026C>T	chr19.hg19:g.38994959C>T	ENSP00000352608:p.Arg2676Trp	1					RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000355481.4_Missense_Mutation_p.R2676W	p.R2676W			1	2	3	2.318303	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	50	8026	+	all_cancers(60;7.91e-06)		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	1	1	hg19	c.8026C>T	CCDS33011.1	1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777859	0.31502	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	3.97	2.91	0.33838	3.97	2.91	0.33838	.	0.000000	0.64402	U	0.000007	T	0.76140	0.3946	L	0.47716	1.5	0.37413	D	0.913321	D;D	0.89917	1.0;1.0	D;P	0.68483	0.958;0.908	T	0.79264	-0.1875	10	0.66056	D	0.02	.	10.2917	0.43599	0.3951:0.6049:0.0:0.0	rs28934001	2676;2676	P21817-2;P21817	.;RYR1_HUMAN	W	2676	ENSP00000352608:R2676W;ENSP00000347667:R2676W;ENSP00000354254:R2676W	ENSP00000347667:R2676W	R	+	1	2	2	RYR1	43686799	43686799	0.190000	0.23276	0.598000	0.28837	0.467000	0.32768	0.830000	0.27462	0.935000	0.37341	0.305000	0.20034	CGG	0.560060		TCGA-2J-AABH-01A-21D-A40W-08	0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1		2	2	2	0		0	0	51		51	51	1	1.910000	-20.000000	1	0.490000				71	71		124	120	1		1			0	0	51	0		1.000000	0	0	0	0	0	0	71	124
FUZ	80199	broad.mit.edu	37	19	50314661	50314661	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50314661A>G	ENST00000313777.4	-	5	614	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	151					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CAGTCCACACACTGGGTCAGG	0.572																																						ENST00000313777.4	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999994	0.990000	1.000000																										0				4						c.(451-453)Tgt>Cgt		fuzzy planar cell polarity protein							67.0	54.0	58.0					19																	50314661		2203	4300	6503	SO:0001583	missense	80199	0	0					g.chr19:50314661A>G	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.451T>C	chr19.hg19:g.50314661A>G	ENSP00000313309:p.Cys151Arg	1					FUZ_ENST00000534008.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR	p.C151R	NM_025129.4	NP_079405.2	1	2	3	2.467671	Q9BT04	FUZZY_HUMAN		5	614	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	1	1	hg19	c.451T>C	CCDS12781.1	1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591637	0.66219	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.21	4.21	0.49690	4.21	4.21	0.49690	.	0.108709	0.64402	D	0.000007	T	0.42245	0.1194	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.987;0.953	T	0.36383	-0.9750	10	0.87932	D	0	-13.6359	10.9033	0.47065	1.0:0.0:0.0:0.0	.	151;115;151	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	R	115;101;151;151;51;151;101;151	ENSP00000435177:C115R;ENSP00000431731:C101R;ENSP00000313309:C151R;ENSP00000408018:C151R	ENSP00000313309:C151R	C	-	1	0	0	FUZ	55006473	55006473	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.087000	0.50167	1.763000	0.52060	0.379000	0.24179	TGT	0.575319		TCGA-2J-AABH-01A-21D-A40W-08	0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	1	0	0		2	2	2	0		0	0	13		13	13	1	1.910000	-20.000000	1	0.490000	NM_025129			30	28		49	47	1		1	1		0	0	13	0		1.000000	1	0	30	0	30	0	30	49
HMCN1	83872	broad.mit.edu	37	1	186050343	186050343	+	Silent	SNP	G	G	A	rs532472487		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000271588.4	0.090000	0	0.070000	0.020000	0.040000	0.049129	0.040000	0.060000																										0				308						c.(8602-8604)ccG>ccA		hemicentin 1							164.0	161.0	162.0					1																	186050343		2203	4300	6503	SO:0001819	synonymous_variant	83872	1	121412	40				g.chr1:186050343G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8604G>A	chr1.hg19:g.186050343G>A		1					HMCN1_ENST00000367492.2_Silent_p.P2868P	p.P2868P	NM_031935.2	NP_114141.2	1	2	3	2.564316	Q96RW7	HMCN1_HUMAN		56	8833	+			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	0	1	hg19	c.8604G>A	CCDS30956.1	0																																																																																								0.590361		TCGA-2J-AABH-01A-21D-A40W-08	0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	1		2	2	2	0		0	0	312		312	312	1	1.910000	-1.722207	0	0.490000	NM_031935			8	8		900	882	0		1	0		0	0	312	0		0.988476	1.059701e-03	0	0	0	5	0	8	900
CNIH3	149111	broad.mit.edu	37	1	224922304	224922304	+	Silent	SNP	C	C	T	rs200710456		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:224922304C>T	ENST00000272133.3	+	5	1233	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	117					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AACTAGCCTACGACCCACCGG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		21337	0.001		0.0	False		,,,				2504	0.0					ENST00000272133.3	1.000000	7.900000e-01	1.000000	0.890000	0.990000	0.961727	0.990000	1.000000																										0				9						c.(349-351)taC>taT		cornichon family AMPA receptor auxiliary protein 3							172.0	132.0	146.0					1																	224922304		2203	4300	6503	SO:0001819	synonymous_variant	149111	7	121412	43				g.chr1:224922304C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.351C>T	chr1.hg19:g.224922304C>T		1						p.Y117Y	NM_152495.1	NP_689708.1	1	2	3	2.573745	Q8TBE1	CNIH3_HUMAN		5	1233	+	Breast(184;0.218)			Silent	SNP	ENST00000272133.3	1	1	hg19	c.351C>T	CCDS1544.1	1																																																																																								0.590361		TCGA-2J-AABH-01A-21D-A40W-08	0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	1	0	1		2	2	2	0		0	0	77		77	77	1	1.910000	-20.000000	1	0.490000	NM_152495			60	56		242	240	1		1	0		0	0	77	0		1.000000	7.214820e-01	0	0	0	12	0	60	242
RYR2	6262	broad.mit.edu	37	1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCATTCCGACTACGCCAT	0.418																																						ENST00000366574.2	0.240000	8.000000e-02	0.200000	0.110000	0.150000	0.162379	0.150000	0.150000																										0				586						c.(886-888)cGa>cAa		ryanodine receptor 2 (cardiac)							165.0	161.0	162.0					1																	237586430		1934	4135	6069	SO:0001583	missense	6262	0	0					g.chr1:237586430G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.887G>A	chr1.hg19:g.237586430G>A	ENSP00000355533:p.Arg296Gln	1					RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	p.R296Q	NM_001035.2	NP_001026.2	1	2	3	2.573745	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)	12	1204	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	1	1	hg19	c.887G>A	CCDS55691.1	0	.	.	.	.	.	.	.	.	.	.	G	35	5.596093	0.96602	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000026	D	0.98317	0.9442	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	D	0.99236	1.0883	10	0.87932	D	0	.	19.2044	0.93724	0.0:0.0:1.0:0.0	.	296	Q92736	RYR2_HUMAN	Q	296;294;280	ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q	ENSP00000353174:R294Q	R	+	2	0	0	RYR2	235653053	235653053	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.781000	0.99029	2.541000	0.85698	0.655000	0.94253	CGA	0.590361		TCGA-2J-AABH-01A-21D-A40W-08	0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	0	1		2	2	2	0		0	0	130		130	129	1	1.910000	-2.708833	1	0.490000	NM_001035			15	15		483	481	0		1			0	0	130	0		0.999871	0	0	0	0	0	0	15	483
SCN1A	6323	broad.mit.edu	37	2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:166900451C>T	ENST00000303395.4	-	11	1770	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	591					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517																																						ENST00000303395.4	1.000000	6.600000e-01	0.940000	0.750000	0.840000	0.847357	0.840000	1.000000																										0				200						c.(1771-1773)Gca>Aca		sodium channel, voltage-gated, type I, alpha subunit	Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)						151.0	137.0	141.0					2																	166900451		2203	4300	6503	SO:0001583	missense	6323	0	0					g.chr2:166900451C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1771G>A	chr2.hg19:g.166900451C>T	ENSP00000303540:p.Ala591Thr	0					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	p.A591T			1	2	3	2.049523	P35498	SCN1A_HUMAN		11	1770	-			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	1	1	hg19	c.1771G>A	CCDS54413.1	0	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670151	0.67814	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.37	4.49	0.54785	5.37	4.49	0.54785	Domain of unknown function DUF3451 (1);	0.084144	0.51477	N	0.000088	D	0.98745	0.9578	M	0.92412	3.305	0.54753	D	0.999984	D;D;P	0.65815	0.964;0.995;0.814	P;P;B	0.54924	0.617;0.764;0.34	D	0.98621	1.0667	10	0.46703	T	0.11	.	13.7837	0.63097	0.0:0.926:0.0:0.074	.	591;591;591	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	591	ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T	ENSP00000303540:A591T	A	-	1	0	0	SCN1A	166608697	166608697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	1.256000	0.44068	0.561000	0.74099	GCA	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1		2	2	2	0		0	0	86		86	83	1	1.910000	-20.000000	1	0.490000	NM_006920			63	62		242	237	1		1			0	0	86	0		1.000000	0	0	0	0	0	0	63	242
LRP2	4036	broad.mit.edu	37	2	170062574	170062574	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:170062574G>A	ENST00000263816.3	-	40	7800	c.7515C>T	c.(7513-7515)cgC>cgT	p.R2505R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2505R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTTTTGGAACGCGGGCTATCA	0.428																																						ENST00000263816.3	1.000000	7.700000e-01	1.000000	0.840000	0.920000	0.925293	0.920000	1.000000																										1	Substitution - coding silent(1)	p.R2505R(1)	endometrium(1)	315						c.(7513-7515)cgC>cgT		low density lipoprotein receptor-related protein 2	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"						153.0	147.0	149.0					2																	170062574		2203	4300	6503	SO:0001819	synonymous_variant	4036	3	121412	41				g.chr2:170062574G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7515C>T	chr2.hg19:g.170062574G>A		0						p.R2505R	NM_004525.2	NP_004516.2	1	2	3	2.049523	P98164	LRP2_HUMAN		40	7800	-			O00711|Q16215	Silent	SNP	ENST00000263816.3	1	1	hg19	c.7515C>T	CCDS2232.1	1																																																																																								0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1		2	2	2	0		0	0	99		99	99	1	1.910000	-20.000000	1	0.490000	NM_004525			101	97		342	340	1		1			0	0	99	0		1.000000	0	0	0	0	0	0	101	342
ANKRD44	91526	broad.mit.edu	37	2	197990583	197990583	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:197990583G>A	ENST00000328737.2	-	5	441	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	147										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTCAGAGCCGCATGGTGCAA	0.542																																						ENST00000328737.2	0.120000	1.000000e-02	0.090000	0.030000	0.050000	0.061642	0.050000	0.060000																										0				45						c.(364-366)gCg>gTg		ankyrin repeat domain 44							96.0	93.0	94.0					2																	197990583		2203	4300	6503	SO:0001583	missense	91526	2	121412	36				g.chr2:197990583G>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.365C>T	chr2.hg19:g.197990583G>A	ENSP00000331516:p.Ala122Val	0					ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V	p.A122V			1	2	3	2.049523	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)	5	441	-			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	0	1	hg19	c.365C>T		0	.	.	.	.	.	.	.	.	.	.	G	35	5.488319	0.96323	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;D;D;D;D;T;D	0.81739	-0.26;-1.53;-1.53;-1.53;-1.53;-1.29;-1.53	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.979;0.991	D	0.93967	0.7246	10	0.87932	D	0	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	75;147	F5H682;Q8N8A2-3	.;.	V	139;122;122;122;147;75;147	ENSP00000282272:A139V;ENSP00000331516:A122V;ENSP00000402420:A122V;ENSP00000338794:A122V;ENSP00000387141:A147V;ENSP00000437825:A75V;ENSP00000387233:A147V	ENSP00000282272:A139V	A	-	2	0	0	ANKRD44	197698828	197698828	1.000000	0.71417	0.368000	0.25939	0.860000	0.49131	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GCG	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.542	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	0	0	1		2	2	2	0		0	0	135		135	132	1	1.910000	-2.018767	0	0.490000	NM_153697			5	5		390	386	0		1	0		0	0	135	0		0.936237	5.221339e-03	0	0	0	7	0	5	390
TUBA4A	7277	broad.mit.edu	37	2	220115248	220115248	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220115248C>T	ENST00000248437.4	-	4	1346	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	TUBA4A_ENST00000392088.2_Silent_p.L376L|TUBA4A_ENST00000498660.1_5'Flank|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	391					'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTGTGGTCCAGGCGGGCCC	0.637																																						ENST00000248437.4	0.950000	6.100000e-01	0.870000	0.690000	0.770000	0.781736	0.770000	0.780000																										0				20						c.(1171-1173)ctG>ctA		tubulin, alpha 4a	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)						101.0	89.0	93.0					2																	220115248		2203	4300	6503	SO:0001819	synonymous_variant	7277	0	0					g.chr2:220115248C>T	AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.1173G>A	chr2.hg19:g.220115248C>T		0					TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.L376L|TUBA4A_ENST00000498660.1_5'Flank	p.L391L	NM_006000.2	NP_005991.1	1	2	3	2.049523	P68366	TBA4A_HUMAN		4	1346	-		Renal(207;0.0474)	A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	1	1	hg19	c.1173G>A	CCDS2438.1	0																																																																																								0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.637	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	1	0	1		2	2	2	0		0	0	131		131	127	1	1.910000	-3.496347	1	0.490000	NM_006000			68	67		290	282	1		1	1		0	0	131	0		1.000000	1	0	416	0	474	0	68	290
SLC4A3	6508	broad.mit.edu	37	2	220500451	220500451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220500451C>T	ENST00000358055.3	+	14	2541	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	677					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCTTGCTGCGGACGGGCTC	0.642																																						ENST00000358055.3	0.600000	9.000000e-02	0.430000	0.170000	0.270000	0.300550	0.270000	0.250000																										0				51						c.(2029-2031)Cgg>Tgg		solute carrier family 4 (anion exchanger), member 3							33.0	34.0	34.0					2																	220500451		2203	4299	6502	SO:0001583	missense	6508	0	0					g.chr2:220500451C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2029C>T	chr2.hg19:g.220500451C>T	ENSP00000350756:p.Arg677Trp	0					SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W	p.R677W			1	2	3	2.049523	P48751	B3A3_HUMAN		14	2541	+		Renal(207;0.0183)	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	0	1	hg19	c.2029C>T	CCDS2445.1	0	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533460	0.85812	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.62	4.62	0.57501	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;D;P	0.65010	0.857;0.931;0.886	D	0.91234	0.5016	10	0.87932	D	0	.	14.3747	0.66865	0.1482:0.8518:0.0:0.0	.	381;677;704	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	677;677;704;704;677	ENSP00000350756:R677W;ENSP00000362865:R677W;ENSP00000273063:R704W;ENSP00000362867:R704W;ENSP00000314006:R677W	ENSP00000273063:R704W	R	+	1	2	2	SLC4A3	220208695	220208695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.201000	0.51059	2.264000	0.75181	0.643000	0.83706	CGG	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	0	0	1		2	2	2	0		0	0	14		14	14	1	1.910000	-3.340893	1	0.490000	NM_005070			4	4		61	60	0		1	0		0	0	14	0		0.888852	3.439325e-02	0	0	0	4	0	4	61
ADAM17	6868	broad.mit.edu	37	2	9663463	9663463	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:9663463T>A	ENST00000310823.3	-	7	940	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	253	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GTCAATTAGCTCTATCTGTGT	0.333																																						ENST00000310823.3	1.000000	7.900000e-01	1.000000	0.880000	0.980000	0.953875	0.980000	1.000000																										0				28						c.(757-759)gAg>gTg		ADAM metallopeptidase domain 17							136.0	134.0	135.0					2																	9663463		2203	4300	6503	SO:0001583	missense	6868	0	0					g.chr2:9663463T>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.758A>T	chr2.hg19:g.9663463T>A	ENSP00000309968:p.Glu253Val	0					ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	p.E253V	NM_003183.4	NP_003174.3	1	2	3	2.049523	P78536	ADA17_HUMAN		7	940	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		O60226	Missense_Mutation	SNP	ENST00000310823.3	1	1	hg19	c.758A>T	CCDS1665.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.180382|4.180382	0.78677|0.78677	.|.	.|.	ENSG00000151694|ENSG00000151694	ENST00000310823;ENST00000497134|ENST00000538558	D;D|.	0.87650|.	-2.28;-2.28|.	4.82|4.82	4.82|4.82	0.62117|0.62117	4.82|4.82	4.82|4.82	0.62117|0.62117	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74898|0.74898	0.3777|0.3777	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	P;P|.	0.51351|.	0.944;0.944|.	P;P|.	0.54629|.	0.757;0.757|.	T|T	0.78081|0.78081	-0.2343|-0.2343	10|6	0.56958|0.59425	D|D	0.05|0.04	.|.	14.6645|14.6645	0.68896|0.68896	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	253;253|.	B2RNB2;P78536|.	.;ADA17_HUMAN|.	V|S	253|256	ENSP00000309968:E253V;ENSP00000418728:E253V|.	ENSP00000309968:E253V|ENSP00000439780:R256S	E|R	-|-	2|3	0|2	0|2	ADAM17|ADAM17	9580914|9580914	9580914|9580914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.655000|7.655000	0.83696|0.83696	1.927000|1.927000	0.55829|0.55829	0.402000|0.402000	0.26972|0.26972	GAG|AGA	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.333	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	1		2	2	2	0		0	0	95		95	92	1	1.910000	-20.000000	1	0.490000				72	71		227	225	1		1	1		0	0	95	0		1.000000	9.977470e-01	0	5	0	27	0	72	227
BCL11A	53335	broad.mit.edu	37	2	60688625	60688625	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:60688625G>A	ENST00000335712.6	-	4	1649	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000538214.1_Silent_p.N440N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	474					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGTTGGGGTCGTTCTCGCTCT	0.642			T	IGH@	B-CLL																																	ENST00000335712.6	1.000000	6.300000e-01	1.000000	0.780000	0.960000	0.913248	0.960000	1.000000				Dom	yes			Dom	yes		2	2p13	2p13	53335	T	B-cell CLL/lymphoma 11A				L	L	IGH@		B-CLL		0				59						c.(1420-1422)aaC>aaT		B-cell CLL/lymphoma 11A (zinc finger protein)							24.0	25.0	25.0					2																	60688625		2202	4300	6502	SO:0001819	synonymous_variant	53335	0	0					g.chr2:60688625G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1422C>T	chr2.hg19:g.60688625G>A		0					BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.N474N	p.N474N	NM_022893.3	NP_075044.2	1	2	3	2.049523	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)	4	1649	-			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	1	1	hg19	c.1422C>T	CCDS1862.1	1																																																																																								0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.642	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	1		2	2	2	0		0	0	31		31	31	1	1.910000	-20.000000	1	0.490000	NM_022893			20	20		65	65	1		1	0		0	0	31	0		0.999998	1.498450e-01	0	0	0	3	0	20	65
IRS1	3667	broad.mit.edu	37	2	227662563	227662563	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:227662563C>T	ENST00000305123.5	-	1	1912	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	298	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGTCAGCCCCACCTGGCTG	0.687											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.5	0.910000	6.100000e-01	0.830000	0.670000	0.750000	0.757949	0.750000	0.750000																										0				69						c.(892-894)Ggg>Agg		insulin receptor substrate 1							37.0	46.0	43.0					2																	227662563		2201	4297	6498	SO:0001583	missense	3667	0	0					g.chr2:227662563C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.892G>A	chr2.hg19:g.227662563C>T	ENSP00000304895:p.Gly298Arg	0		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	p.G298R	NM_005544.2	NP_005535.1	1	2	3	2.049523	P35568	IRS1_HUMAN		1	1912	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Missense_Mutation	SNP	ENST00000305123.5	1	1	hg19	c.892G>A	CCDS2463.1	0	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584426	0.86748	.	.	ENSG00000169047	ENST00000305123	T	0.70164	-0.46	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	D	0.82756	0.5106	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83805	0.0238	10	0.72032	D	0.01	-23.2391	19.7366	0.96208	0.0:1.0:0.0:0.0	.	298	P35568	IRS1_HUMAN	R	298	ENSP00000304895:G298R	ENSP00000304895:G298R	G	-	1	0	0	IRS1	227370807	227370807	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.667000	0.90743	0.462000	0.41574	GGG	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.687	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	1	0	1		2	2	2	0		0	0	93		93	88	1	1.910000	-2.035125	0	0.490000	NM_005544			82	79		363	323	0		1	0		0	0	93	0		1.000000	6.787222e-01	0	1	0	11	0	82	363
VEPH1	79674	broad.mit.edu	37	3	156978980	156978980	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:156978980G>A	ENST00000362010.2	-	14	2752	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	815	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CAACTGCCACGTTGATGCACT	0.448																																						ENST00000362010.2	1.000000	8.100000e-01	1.000000	0.900000	0.990000	0.962334	0.990000	1.000000																										0				48						c.(2443-2445)aaC>aaT		ventricular zone expressed PH domain-containing 1							147.0	133.0	138.0					3																	156978980		2203	4300	6503	SO:0001819	synonymous_variant	79674	0	0					g.chr3:156978980G>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2445C>T	chr3.hg19:g.156978980G>A		0					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|RP11-550I24.2_ENST00000475102.1_RNA	p.N815N	NM_001167912.1	NP_001161384.1	1	2	3	2.050751	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)	14	2752	-			D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	1	1	hg19	c.2445C>T	CCDS3179.1	1																																																																																								0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1		2	2	2	0		0	0	101		101	99	1	1.910000	-20.000000	1	0.490000	NM_024621			77	77		238	234	1		1	0		0	0	101	0		1.000000	5.433077e-01	0	0	0	7	0	77	238
MAN2B2	23324	broad.mit.edu	37	4	6596365	6596365	+	Missense_Mutation	SNP	G	G	C	rs533100135		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:6596365G>C	ENST00000285599.3	+	7	999	c.963G>C	c.(961-963)caG>caC	p.Q321H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	321					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCTCGGTGCAGTATGCCACGC	0.597																																						ENST00000285599.3	1.000000	7.200000e-01	1.000000	0.850000	0.990000	0.943186	0.990000	1.000000																										0				30						c.(961-963)caG>caC		mannosidase, alpha, class 2B, member 2							128.0	96.0	107.0					4																	6596365		2203	4300	6503	SO:0001583	missense	23324	0	0					g.chr4:6596365G>C	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.963G>C	chr4.hg19:g.6596365G>C	ENSP00000285599:p.Gln321His	0					MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	p.Q321H	NM_015274.1	NP_056089.1	1	2	3	2.055690	Q9Y2E5	MA2B2_HUMAN		7	999	+			Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	1	1	hg19	c.963G>C	CCDS33951.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.976|5.976	0.364000|0.364000	0.11296|0.11296	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;T|.	0.75477|.	-0.94;-0.94|.	4.52|4.52	2.36|2.36	0.29203|0.29203	4.52|4.52	2.36|2.36	0.29203|0.29203	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|.	0.424218|.	0.26072|.	N|.	0.026512|.	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.70842|0.70842	2.15|2.15	0.37979|0.37979	D|D	0.93354|0.93354	B;B;B|.	0.18310|.	0.012;0.012;0.027|.	B;B;B|.	0.24848|.	0.056;0.037;0.043|.	T|T	0.62793|0.62793	-0.6779|-0.6779	10|5	0.16896|.	T|.	0.51|.	-10.2461|-10.2461	6.7447|6.7447	0.23454|0.23454	0.195:0.1512:0.6539:0.0|0.195:0.1512:0.6539:0.0	.|.	270;321;321|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|T	321;270|320	ENSP00000285599:Q321H;ENSP00000423129:Q270H|.	ENSP00000285599:Q321H|.	Q|S	+|+	3|2	2|0	2|0	MAN2B2|MAN2B2	6647266|6647266	6647266|6647266	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.187000|0.187000	0.23431|0.23431	4.173000|4.173000	0.58249|0.58249	0.891000|0.891000	0.36235|0.36235	0.543000|0.543000	0.68304|0.68304	CAG|AGT	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	1		2	2	2	0		0	0	36		36	36	1	1.910000	-20.000000	1	0.490000	NM_015274			35	34		109	108	1		1	1		0	0	36	0		1.000000	9.998610e-01	0	6	0	41	0	35	109
SORCS2	57537	broad.mit.edu	37	4	7666172	7666172	+	Missense_Mutation	SNP	G	G	A	rs377584831		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:7666172G>A	ENST00000507866.2	+	7	1154	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	349					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GTCTCTGACCGTGCAGGACGA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17701	0.0		0.0	False		,,,				2504	0.0					ENST00000507866.2	1.000000	5.900000e-01	1.000000	0.710000	0.850000	0.846901	0.850000	1.000000																										0				42						c.(1045-1047)Gtg>Atg		sortilin-related VPS10 domain containing receptor 2		G	MET/VAL	0,3958		0,0,1979	61.0	61.0	61.0		1045	3.1	0.7	4		61	1,8329		0,1,4164	no	missense	SORCS2	NM_020777.2	21	0,1,6143	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	349/1160	7666172	1,12287	1979	4165	6144	SO:0001583	missense	57537	12	120896	38				g.chr4:7666172G>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1045G>A	chr4.hg19:g.7666172G>A	ENSP00000422185:p.Val349Met	0					SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	p.V349M	NM_020777.2	NP_065828.2	1	2	3	2.055690	Q96PQ0	SORC2_HUMAN		7	1154	+			Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	1	1	hg19	c.1045G>A	CCDS47008.1	1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717578	0.48622	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.49139	0.79;0.79	4.82	3.07	0.35406	4.82	3.07	0.35406	VPS10 (1);	0.297174	0.26539	N	0.023820	T	0.59059	0.2166	M	0.65975	2.015	0.48236	D	0.999617	D;D	0.76494	0.997;0.999	P;P	0.61328	0.808;0.887	T	0.56098	-0.8035	10	0.46703	T	0.11	.	9.0836	0.36567	0.0834:0.1487:0.7679:0.0	.	177;349	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	349;177	ENSP00000422185:V349M;ENSP00000329124:V177M	ENSP00000329124:V177M	V	+	1	0	0	SORCS2	7717072	7717072	1.000000	0.71417	0.695000	0.30226	0.364000	0.29643	4.341000	0.59335	0.443000	0.26582	0.655000	0.94253	GTG	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.532	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1		2	2	2	0		0	0	55		55	54	1	1.910000	-18.795580	1	0.490000	NM_020777			27	27		103	102	1		1	0		0	0	55	0		1.000000	1.180461e-01	0	0	0	3	0	27	103
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:32229910C>T	ENST00000382142.3	-	16	2388	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	740						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCACGAACTCATCTTCTCGT	0.507																																						ENST00000382142.3	1.000000	8.000000e-01	1.000000	0.900000	0.990000	0.965800	0.990000	1.000000																										0				34						c.(2218-2220)Gag>Aag		myotubularin related protein 12							154.0	135.0	142.0					5																	32229910		2203	4300	6503	SO:0001583	missense	54545	0	0					g.chr5:32229910C>T	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2218G>A	chr5.hg19:g.32229910C>T	ENSP00000371577:p.Glu740Lys	0					MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	p.E740K	NM_001040446.1	NP_001035536.1	0	0	0	2.042446	Q9C0I1	MTMRC_HUMAN		16	2388	-			Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	1	1	hg19	c.2218G>A	CCDS34138.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588664	0.86851	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.97328	-4.34;-3.66;-3.8	5.02	5.02	0.67125	5.02	5.02	0.67125	.	0.351538	0.29480	N	0.012035	D	0.97071	0.9043	L	0.27053	0.805	0.32367	N	0.556418	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.80764	0.99;0.994;0.985	D	0.97979	1.0348	10	0.87932	D	0	.	17.9465	0.89040	0.0:1.0:0.0:0.0	.	630;686;740	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	686;740;630	ENSP00000280285:E686K;ENSP00000371577:E740K;ENSP00000264934:E630K	ENSP00000264934:E630K	E	-	1	0	0	MTMR12	32265667	32265667	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.863000	0.69568	2.327000	0.79052	0.462000	0.41574	GAG	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.507	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	1	0	1		2	2	2	0		0	0	86		86	86	1	1.910000	-4.787850	1	0.490000	NM_019061			59	59		177	175	1		1	1		0	0	86	0		1.000000	9.999998e-01	0	17	0	57	0	59	177
ENC1	8507	broad.mit.edu	37	5	73930609	73930609	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:73930609T>C	ENST00000302351.4	-	2	2832	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	568				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ACAGTGGTGATGCTGTTCCAC	0.473																																						ENST00000302351.4	1.000000	8.400000e-01	1.000000	0.970000	0.990000	0.985617	0.990000	1.000000																										0				20						c.(1702-1704)Atc>Gtc		ectodermal-neural cortex 1 (with BTB domain)							113.0	86.0	95.0					5																	73930609		2203	4300	6503	SO:0001583	missense	8507	0	0					g.chr5:73930609T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1702A>G	chr5.hg19:g.73930609T>C	ENSP00000306356:p.Ile568Val	0					ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	p.I568V	NM_003633.3	NP_003624.1	1	2	3	2.053985	O14682	ENC1_HUMAN		2	2832	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	1	1	hg19	c.1702A>G	CCDS4021.1	1	.	.	.	.	.	.	.	.	.	.	T	6.562	0.471920	0.12461	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.75938	-0.98;-0.98;-0.98	5.75	4.58	0.56647	5.75	4.58	0.56647	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	N	0.05124	-0.11	0.54753	D	0.999989	B	0.10296	0.003	B	0.14023	0.01	T	0.45160	-0.9280	10	0.02654	T	1	.	11.5467	0.50698	0.0:0.0698:0.0:0.9302	.	568	O14682	ENC1_HUMAN	V	568;495;568	ENSP00000306356:I568V;ENSP00000423804:I495V;ENSP00000446289:I568V	ENSP00000306356:I568V	I	-	1	0	0	ENC1	73966365	73966365	1.000000	0.71417	0.991000	0.47740	0.939000	0.58152	5.167000	0.64972	1.001000	0.39076	0.459000	0.35465	ATC	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.473	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	1	0	1		2	2	2	0		0	0	43		43	41	1	1.910000	-20.000000	1	0.490000	NM_003633			41	41		108	106	1		1	1		0	0	43	0		1.000000	1	0	14	0	102	0	41	108
CMYA5	202333	broad.mit.edu	37	5	79031709	79031709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:79031709C>A	ENST00000446378.2	+	2	7152	c.7121C>A	c.(7120-7122)tCa>tAa	p.S2374*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2374					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAACAAAAATCACTCCTTTCA	0.368																																						ENST00000446378.2	1.000000	6.000000e-01	0.940000	0.700000	0.810000	0.818348	0.810000	1.000000																										0				128						c.(7120-7122)tCa>tAa		cardiomyopathy associated 5							36.0	35.0	36.0					5																	79031709		1865	4115	5980	SO:0001587	stop_gained	202333	0	0					g.chr5:79031709C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7121C>A	chr5.hg19:g.79031709C>A	ENSP00000394770:p.Ser2374*	0						p.S2374*	NM_153610.3	NP_705838.3	1	2	3	2.053985	Q8N3K9	CMYA5_HUMAN		2	7152	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	0	1	hg19	c.7121C>A	CCDS47238.1	0	.	.	.	.	.	.	.	.	.	.	C	46	12.721702	0.99691	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.65	-0.142	0.13448	5.65	-0.142	0.13448	.	2.581580	0.01232	N	0.008365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	0.8303	0.01129	0.16:0.3584:0.1561:0.3255	.	.	.	.	X	2374	.	ENSP00000394770:S2374X	S	+	2	0	0	CMYA5	79067465	79067465	0.000000	0.05858	0.015000	0.15790	0.868000	0.49771	-0.713000	0.05007	0.051000	0.15978	0.655000	0.94253	TCA	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1		2	2	2	0		0	0	49		49	49	1	1.910000	-20.000000	1	0.490000	NM_153610			39	39		157	156	1		1			0	0	49	0		1.000000	0	0	0	0	0	0	39	157
PCDHA7	56141	broad.mit.edu	37	5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCGGGCGGTGTGCAAA	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1	1.000000	7.900000e-01	0.980000	0.850000	0.910000	0.915200	0.910000	1.000000																										0				63						c.(196-198)gCg>gTg		protocadherin alpha 7							84.0	102.0	96.0					5																	140214165		2203	4300	6503	SO:0001583	missense	56141	2	121412	37				g.chr5:140214165C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.197C>T	chr5.hg19:g.140214165C>T	ENSP00000436426:p.Ala66Val	0					PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	p.A66V	NM_018910.2	NP_061733.1	1	2	3	2.053985	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	197	+			O75282	Missense_Mutation	SNP	ENST00000525929.1	1	1	hg19	c.197C>T	CCDS54918.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605859	0.00842	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.19938	2.11;2.11	4.17	0.291	0.15732	4.17	0.291	0.15732	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.00226	-1.805	0.22511	N	0.999038	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40776	-0.9545	9	0.02654	T	1	.	10.1587	0.42838	0.0:0.1593:0.0:0.8407	.	66;66	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	66	ENSP00000436426:A66V;ENSP00000367365:A66V	ENSP00000367365:A66V	A	+	2	0	0	PCDHA7	140194349	140194349	0.300000	0.24435	0.998000	0.56505	0.148000	0.21650	3.486000	0.53215	0.121000	0.18284	-1.817000	0.00601	GCG	0.491246		TCGA-2J-AABH-01A-21D-A40W-08	0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	1	0	1		2	2	2	0		0	0	228		228	226	1	1.910000	-20.000000	1	0.490000	NM_018910			170	164		589	583	1		1			0	0	228	0		1.000000	0	0	0	0	0	0	170	589
AGER	177	broad.mit.edu	37	6	32151673	32151673	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr6:32151673C>T	ENST00000375076.4	-	2	245	c.144G>A	c.(142-144)cgG>cgA	p.R48R	AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000375067.3_Silent_p.R48R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000375055.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|RNF5_ENST00000427134.2_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	48	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCATTCCAGCCGCTGGGGTG	0.582																																						ENST00000375076.4	0.810000	4.800000e-01	0.730000	0.550000	0.630000	0.648506	0.630000	0.640000																										0				9						c.(142-144)cgG>cgA		advanced glycosylation end product-specific receptor							67.0	77.0	73.0					6																	32151673		1510	2709	4219	SO:0001819	synonymous_variant	177	0	0					g.chr6:32151673C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.144G>A	chr6.hg19:g.32151673C>T		0					AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375065.5_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Silent_p.R48R	p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	0	1	1	1.975518	Q15109	RAGE_HUMAN		2	245	-			A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Silent	SNP	ENST00000375076.4	1	1	hg19	c.144G>A	CCDS4746.1	0																																																																																								0.474552		TCGA-2J-AABH-01A-21D-A40W-08	0.582	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	1	0	1		2	2	2	0		0	0	72		72	70	1	1.910000	-19.999860	1	0.490000	NM_001136			46	44		238	235	0		1	1		0	0	72	0		1.000000	6.892885e-01	0	4	0	10	0	46	238
PRPS1L1	221823	broad.mit.edu	37	7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C	rs376402121		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	107					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTGGCAGAGATTGGGGACCGG	0.463																																						ENST00000506618.2	1.000000	7.400000e-01	0.980000	0.810000	0.890000	0.894876	0.890000	1.000000																										0				18						c.(319-321)Atc>Gtc		phosphoribosyl pyrophosphate synthetase 1-like 1		T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	145.0	148.0	147.0		319	4.5	0.5	7		147	0,8600		0,0,4300	no	missense	PRPS1L1	NM_175886.2	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	107/319	18067087	1,13005	2203	4300	6503	SO:0001583	missense	221823	2	121412	37				g.chr7:18067087T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.319A>G	chr7.hg19:g.18067087T>C	ENSP00000424595:p.Ile107Val	0						p.I107V	NM_175886.2	NP_787082	0	0	0	2.030770	P21108	PRPS3_HUMAN		1	399	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	1	1	hg19	c.319A>G	CCDS47552.1	1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784786	0.49997	2.27E-4	0.0	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.47	4.47	0.54385	4.47	4.47	0.54385	.	.	.	.	.	D	0.94182	0.8133	M	0.73962	2.25	.	.	.	B	0.28055	0.199	P	0.46275	0.51	D	0.96505	0.9374	8	0.87932	D	0	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	107	P21108	PRPS3_HUMAN	V	107	ENSP00000424595:I107V	ENSP00000424595:I107V	I	-	1	0	0	PRPS1L1	18033612	18033612	1.000000	0.71417	0.454000	0.27019	0.835000	0.47333	5.212000	0.65225	2.014000	0.59158	0.528000	0.53228	ATC	0.487489		TCGA-2J-AABH-01A-21D-A40W-08	0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	1	0	1		2	2	2	0		0	0	181		181	178	1	1.910000	-20.000000	1	0.490000	NM_175886			96	94		339	333	1		1			0	0	181	0		1.000000	0	0	0	0	0	0	96	339
ABCB1	5243	broad.mit.edu	37	7	87138791	87138791	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:87138791C>A	ENST00000265724.3	-	27	3706	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1097	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)	TCTTTGCCATCAAGCAGCTGA	0.453																																						ENST00000265724.3	0.990000	5.500000e-01	0.890000	0.650000	0.760000	0.774714	0.760000	0.760000																										0				111						c.(3289-3291)Gat>Tat		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)						66.0	64.0	64.0					7																	87138791		2203	4300	6503	SO:0001583	missense	5243	0	0					g.chr7:87138791C>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.3289G>T	chr7.hg19:g.87138791C>A	ENSP00000265724:p.Asp1097Tyr	0					ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR	p.D1097Y	NM_000927.4	NP_000918.2	0	1	1	2.039687	P08183	MDR1_HUMAN		27	3706	-	Esophageal squamous(14;0.00164)		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	1	1	hg19	c.3289G>T	CCDS5608.1	0	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009182	0.93346	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92199	-2.99;-2.99	5.86	5.86	0.93980	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.045706	0.85682	D	0.000000	D	0.96614	0.8895	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96715	0.9528	10	0.87932	D	0	-28.0757	19.1758	0.93602	0.0:1.0:0.0:0.0	.	1033;1097	B5AK60;P08183	.;MDR1_HUMAN	Y	878;1097;1033	ENSP00000265724:D1097Y;ENSP00000444095:D1033Y	ENSP00000265724:D1097Y	D	-	1	0	0	ABCB1	86976727	86976727	1.000000	0.71417	0.110000	0.21437	0.346000	0.29079	7.810000	0.86072	2.765000	0.95021	0.655000	0.94253	GAT	0.488747		TCGA-2J-AABH-01A-21D-A40W-08	0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1		2	2	2	0		0	0	63		63	61	1	1.910000	-20.000000	1	0.490000	NM_000927			36	36		155	154	1		1	0		0	0	63	0		1.000000	9.981705e-01	0	0	0	45	0	36	155
ARC	23237	broad.mit.edu	37	8	143694586	143694586	+	Silent	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694586G>T	ENST00000356613.2	-	1	2247	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCCCCTCTGGATGAGCTGCT	0.697																																						ENST00000356613.2	1.000000	9.900000e-01	1.000000	0.990000	0.990000	0.999999	0.990000	1.000000																										0				13						c.(1045-1047)atC>atA		activity-regulated cytoskeleton-associated protein							36.0	37.0	37.0					8																	143694586		2203	4300	6503	SO:0001819	synonymous_variant	23237	0	0					g.chr8:143694586G>T	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1047C>A	chr8.hg19:g.143694586G>T		1					ARC_ENST00000581404.1_5'Flank	p.I349I	NM_015193.4	NP_056008.1	2	8	10	4.208417	O60936	NOL3_HUMAN		1	2247	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	B4DFL0|O60937	Silent	SNP	ENST00000356613.2	1	1	hg19	c.1047C>A	CCDS34950.1	1																																																																																								0.754572		TCGA-2J-AABH-01A-21D-A40W-08	0.697	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2	1	0	0		2	2	2	0		0	0	39		39	39	1	1.910000	-20.000000	1	0.490000				60	59		243	240	1		1			0	0	39	0		1.000000	0	0	0	0	0	0	60	243
ARHGAP39	80728	broad.mit.edu	37	8	145756121	145756121	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145756121G>A	ENST00000276826.5	-	9	3223	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|C8orf82_ENST00000524821.1_5'Flank|C8orf82_ENST00000313465.5_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1008	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						AGCACCATGCGGTTGATGCGG	0.721																																						ENST00000276826.5	1.000000	7.600000e-01	1.000000	0.980000	0.990000	0.979150	0.990000	1.000000																										0				22						c.(3022-3024)Cgc>Tgc		Rho GTPase activating protein 39							33.0	28.0	29.0					8																	145756121		2185	4289	6474	SO:0001583	missense	80728	3	120422	23				g.chr8:145756121G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.3022C>T	chr8.hg19:g.145756121G>A	ENSP00000276826:p.Arg1008Cys	1					C8orf82_ENST00000524821.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|C8orf82_ENST00000313465.5_5'Flank	p.R1008C			2	6	8	4.301474	Q9C0H5	RHG39_HUMAN		9	3223	-			B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	0	1	hg19	c.3022C>T		1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379235	0.82682	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.22134	1.97;1.97;1.97	5.19	4.22	0.49857	5.19	4.22	0.49857	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.342077	0.28247	N	0.016055	T	0.45657	0.1353	M	0.92970	3.365	0.48341	D	0.999631	D;P	0.61080	0.989;0.872	P;B	0.53722	0.733;0.431	T	0.58956	-0.7544	10	0.87932	D	0	-35.1021	11.8975	0.52663	0.0:0.0:0.7901:0.2099	.	1008;1039	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	1008;1039;1008	ENSP00000276826:R1008C;ENSP00000366522:R1039C;ENSP00000445075:R1008C	ENSP00000276826:R1008C	R	-	1	0	0	ARHGAP39	145726929	145726929	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.311000	0.43717	2.414000	0.81942	0.561000	0.74099	CGC	0.757432		TCGA-2J-AABH-01A-21D-A40W-08	0.721	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	1		2	2	2	0		0	0	16		16	16	1	1.910000	-20.000000	1	0.490000				19	19		121	120	0		1	0		0	0	16	0		0.999994	8.777707e-01	0	1	0	25	0	19	121
ANGPTL2	23452	broad.mit.edu	37	9	129851341	129851341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:129851341G>T	ENST00000373425.3	-	5	1976	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	453	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGCCCCCGCGGTACCAGACCC	0.582																																						ENST00000373425.3	1.000000	7.700000e-01	1.000000	0.840000	0.910000	0.919202	0.910000	1.000000																										0				18						c.(1357-1359)taC>taA		angiopoietin-like 2							114.0	116.0	115.0					9																	129851341		2203	4300	6503	SO:0001587	stop_gained	23452	0	0					g.chr9:129851341G>T	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1359C>A	chr9.hg19:g.129851341G>T	ENSP00000362524:p.Tyr453*	0					RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*	p.Y453*	NM_012098.2	NP_036230.1	0	0	0	2.048222	Q9UKU9	ANGL2_HUMAN		5	1976	-			Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	0	1	hg19	c.1359C>A	CCDS6868.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.542895	0.99199	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	4.98	4.09	0.47781	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	9.3322	0.38030	0.185:0.0:0.815:0.0	.	.	.	.	X	453;151	.	ENSP00000362516:Y151X	Y	-	3	2	2	ANGPTL2	128891162	128891162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.766000	0.38491	1.221000	0.43506	0.655000	0.94253	TAC	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.582	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	1	0	1		2	2	2	0		0	0	146		146	144	1	1.910000	-20.000000	1	0.490000	NM_012098			119	117		407	401	1		1	1		0	0	146	0		1.000000	9.999458e-01	0	3	0	48	0	119	407
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453																																						ENST00000276211.5	0.990000	7.200000e-01	0.950000	0.800000	0.870000	0.874874	0.870000	0.890000																										1	Substitution - Missense(1)	p.R439C(1)	large_intestine(1)	71						c.(1315-1317)Cgc>Tgc		Rho GTPase activating protein 36							100.0	91.0	94.0					X																	130220336		2203	4300	6503	SO:0001583	missense	158763	0	0					g.chrX:130220336C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1315C>T	chrX.hg19:g.130220336C>T	ENSP00000276211:p.Arg439Cys						ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	p.R439C	NM_144967.3	NP_659404.2	0	1	1		Q6ZRI8	RHG36_HUMAN		10	1660	+			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	1	1	hg19	c.1315C>T	CCDS14628.1	1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662549	0.29515	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10860	2.83;2.83;2.84;2.86	4.69	2.74	0.32292	4.69	2.74	0.32292	.	0.000000	0.45126	D	0.000397	T	0.12433	0.0302	N	0.08118	0	0.43430	D	0.995599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.948	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.361	0.32359	0.4276:0.5724:0.0:0.0	.	408;427;439	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	439;427;408;303	ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C	ENSP00000276211:R439C	R	+	1	0	0	ARHGAP36	130048017	130048017	0.993000	0.37304	0.999000	0.59377	0.117000	0.20001	0.628000	0.24522	1.059000	0.40554	0.600000	0.82982	CGC	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	1	0	1		2	2	2	0		0	0	52		52	52	1	1.910000	-14.777580	1	0.490000	NM_144967			72	70		93	91	1		1			0	0	52	0		1.000000	0	0	0	0	0	0	72	93
TREX2	11219	broad.mit.edu	37	X	152710707	152710707	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:152710707G>A	ENST00000334497.2	-	11	1452	c.311C>T	c.(310-312)aCg>aTg	p.T104M	TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	104					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCACAGCGTGAGCTTGTC	0.657								Editing and processing nucleases					G|||	2	0.000529801	0.0	0.0014	3775	,	,		11757	0.0		0.0	False		,,,				2504	0.001					ENST00000334497.2	0.990000	6.400000e-01	0.950000	0.740000	0.850000	0.849707	0.850000	0.880000																										0				11						c.(310-312)aCg>aTg	Editing and processing nucleases	three prime repair exonuclease 2							39.0	40.0	40.0					X																	152710707		2200	4298	6498	SO:0001583	missense	11219	5	121306	32				g.chrX:152710707G>A	AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.311C>T	chrX.hg19:g.152710707G>A	ENSP00000334993:p.Thr104Met						TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M	p.T104M			0	1	1		Q9BQ50	TREX2_HUMAN		11	1452	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	1	1	hg19	c.311C>T		1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773557	0.49786	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.04	5.04	0.67666	5.04	5.04	0.67666	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.314529	0.22446	U	0.059948	T	0.41789	0.1174	M	0.64170	1.965	0.33352	D	0.571157	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.56595	-0.7953	10	0.66056	D	0.02	-21.5773	10.799	0.46476	0.0:0.1874:0.8126:0.0	.	103;104	Q06S70;Q9BQ50	.;TREX2_HUMAN	M	61;61;61;104;104;104;103;61	ENSP00000377442:T61M;ENSP00000333441:T61M;ENSP00000345218:T61M;ENSP00000334993:T104M;ENSP00000359252:T104M;ENSP00000386078:T104M;ENSP00000401692:T103M;ENSP00000359251:T61M	ENSP00000333441:T61M	T	-	2	0	0	TREX2	152363901	152363901	1.000000	0.71417	0.930000	0.37139	0.399000	0.30720	4.237000	0.58681	2.082000	0.62665	0.529000	0.55759	ACG	0.490000		TCGA-2J-AABH-01A-21D-A40W-08	0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	1	0	1		2	2	2	0		0	0	24		24	24	1	1.910000	-20.000000	1	0.490000	NM_080701			29	28		37	37	1		1	0		0	0	24	0		1.000000	1.925466e-01	0	1	0	1	0	29	37
