#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
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	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""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)	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						c.(184-186)gaafs	Other conserved DNA damage response genes	tumor protein p53							138.0	142.0	140.0					17																	7579503		2203	4300	6503	SO:0001589	frameshift_variant	7157	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	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	17.37:g.7579503delC	ENSP00000269305:p.Glu62fs	False	False	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)	Somatic	1				TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs	p.E62fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	316	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	62		E -> D (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		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	37	c.184delG	CCDS11118.1																																																																																				0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579503
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
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	GACCAACGCCTGCCAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs	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		NA																	1	Substitution - Missense(1)	p.P33A(1)	kidney(1)	kidney(1)|large_intestine(1)|liver(1)|lung(2)	5						c.(94-111)agaccaacgcctgccatgfs		protein phosphatase 1, regulatory (inhibitor) subunit 1B																																				SO:0001589	frameshift_variant	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	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	17.37:g.37785436_37785451delGACCAACGCCTGCCAT	ENSP00000254079:p.Arg32fs	False	False		Somatic	1				PPP1R1B_ENST00000394265.1_Start_Codon_Del|PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394267.2_Start_Codon_Del	p.RPTPAM32fs	NM_032192.3	NP_115568.2	WXS	Illumina HiSeq	Phase_I	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)		32					Q547V9|Q547W0|Q9H7G1	Frame_Shift_Del	DEL	ENST00000254079.4	37	c.95_110delGACCAACGCCTGCCAT	CCDS11339.1																																																																																				0.648	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	0	NM_032192		17:37785436
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs557719047|rs142075074|rs371185257	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4		NA																	2	Substitution - Missense(1)|Deletion - In frame(1)	p.A164G(1)|p.A147_A155del(1)	large_intestine(1)|breast(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel		zinc finger, MIZ-type containing 2																																				SO:0001651	inframe_deletion	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	7.37:g.44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENSP00000311778:p.Val153_Thr167del	False	False		Somatic	1				ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del	p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	WXS	Illumina HiSeq	Phase_I	Q8NF64	ZMIZ2_HUMAN			5	580_624	+			153			Ala-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	In_Frame_Del	DEL	ENST00000309315.4	37	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	CCDS43576.1																																																																																				0.678	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	0	NM_031449		7:44797065
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6		NA																	0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		False	False		Somatic	0				CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	WXS	Illumina HiSeq	Phase_I	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	0	NM_201453		9:70871889
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	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(79-81)cCc>cTc		protease, serine, 23							121.0	121.0	121.0					11																	86518765		2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	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	11.37:g.86518765C>T	ENSP00000280258:p.Pro27Leu	True	False		Somatic	0				PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	p.P27L	NM_007173.4	NP_009104.1	WXS	Illumina HiSeq	Phase_I	O95084	PRS23_HUMAN			2	505	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	27					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.80C>T	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566037	0.13560	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	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	PRSS23	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		0.547	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	0	NM_007173		11:86518765
CKAP2L	150468	broad.mit.edu	37	2	113498574	113498574	+	Silent	SNP	A	A	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:113498574A>T	ENST00000302450.6	-	8	1911	c.1833T>A	c.(1831-1833)tcT>tcA	p.S611S	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000541405.1_Silent_p.S446S	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	611						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTAAAGAGTCAGAAGTAATCC	0.348																																						ENST00000541405.1		NA																	0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1336-1338)tcT>tcA		cytoskeleton associated protein 2-like							140.0	128.0	132.0					2																	113498574		2203	4300	6503	SO:0001819	synonymous_variant	150468					centrosome		g.chr2:113498574A>T	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1833T>A	2.37:g.113498574A>T		False	False		Somatic	0				NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000302450.6_Silent_p.S611S	p.S446S			WXS	Illumina HiSeq	Phase_I	Q8IYA6	CKP2L_HUMAN			8	1861	-			611					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Silent	SNP	ENST00000302450.6	37	c.1338T>A	CCDS2100.1																																																																																				0.348	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	0	NM_152515		2:113498574
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M			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					ENST00000330912.2		NA																	0				endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11						c.(181-183)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				DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	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	X.37:g.152710707G>A	ENSP00000334993:p.Thr104Met	False	False		Somatic	0				TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000334497.2_Missense_Mutation_p.T104M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M	p.T61M			WXS	Illumina HiSeq	Phase_I	Q9BQ50	TREX2_HUMAN			13	1732	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		104					Q45F08|Q9UN77	Missense_Mutation	SNP	ENST00000334497.2	37	c.182C>T		.	.	.	.	.	.	.	.	.	.	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	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	TREX2	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		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	0	NM_080701		X:152710707
CARD9	64170	broad.mit.edu	37	9	139266428	139266428	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:139266428G>A	ENST00000371732.5	-	2	268	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	CARD9_ENST00000315908.7_Missense_Mutation_p.R35W|CARD9_ENST00000371734.3_Missense_Mutation_p.R35W	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTGCACTGCCGCAGGTAAGGT	0.627																																						ENST00000371732.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(103-105)Cgg>Tgg		caspase recruitment domain family, member 9							156.0	126.0	136.0					9																	139266428		2203	4300	6503	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139266428G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.103C>T	9.37:g.139266428G>A	ENSP00000360797:p.Arg35Trp	False	False		Somatic	0				CARD9_ENST00000371734.3_Missense_Mutation_p.R35W|CARD9_ENST00000315908.7_Missense_Mutation_p.R35W	p.R35W	NM_052813.4	NP_434700.2	WXS	Illumina HiSeq	Phase_I	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	2	268	-		Myeloproliferative disorder(178;0.0511)	35			CARD.		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.103C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766339	0.69878	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.24723	1.84;1.84;1.84	4.88	0.668	0.17912	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.64402	D	0.000001	T	0.51278	0.1665	M	0.83384	2.64	0.47819	D	0.999526	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57376	-0.7822	10	0.87932	D	0	-37.0311	13.7351	0.62813	0.0:0.0:0.4779:0.5221	.	35;35;35	Q9H257-2;Q5SXM5;Q9H257	.;.;CARD9_HUMAN	W	35	ENSP00000360799:R35W;ENSP00000360797:R35W;ENSP00000323719:R35W	ENSP00000323719:R35W	R	-	1	2	CARD9	138386249	0.553000	0.26513	0.960000	0.40013	0.840000	0.47671	0.760000	0.26475	-0.043000	0.13513	0.549000	0.68633	CGG		0.627	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	0	NM_052813		9:139266428
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	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		NA																	0				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						c.(886-888)cGa>cAa		ryanodine receptor 2 (cardiac)							165.0	161.0	162.0					1																	237586430		1934	4135	6069	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	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	1.37:g.237586430G>A	ENSP00000355533:p.Arg296Gln	False	False		Somatic	0				RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	p.R296Q	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	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)	296			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.887G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	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	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	RYR2	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		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237586430
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|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			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																																						ENST00000423058.2		NA																	0				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						c.(1771-1773)Gca>Aca		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						151.0	137.0	141.0					2																	166900451		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	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	2.37:g.166900451C>T	ENSP00000303540:p.Ala591Thr	False	False		Somatic	0				SCN1A_ENST00000303395.4_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_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	p.A591T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina HiSeq	Phase_I	P35498	SCN1A_HUMAN			11	1788	-			591					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1771G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	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	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	SCN1A	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		0.517	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	NM_006920		2:166900451
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_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		NA																	0				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						c.(196-198)gCg>gTg									84.0	102.0	96.0					5																	140214165		2203	4300	6503	SO:0001583	missense	0							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	5.37:g.140214165C>T	ENSP00000436426:p.Ala66Val	True	False		Somatic	0				PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.A66V	NM_018910.2	NP_061733.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	197	+			NA					O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.197C>T	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605859	0.00842	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.19938	2.11;2.11	4.17	0.291	0.15732	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	PCDHA7	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		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	0	NM_018910		5:140214165
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	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						c.(3289-3291)Gat>Tat		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						66.0	64.0	64.0					7																	87138791		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	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	7.37:g.87138791C>A	ENSP00000265724:p.Asp1097Tyr	False	False		Somatic	0				ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR	p.D1097Y	NM_000927.4	NP_000918.2	WXS	Illumina HiSeq	Phase_I	P08183	MDR1_HUMAN			27	3706	-	Esophageal squamous(14;0.00164)		1097			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3289G>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	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	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	ABCB1	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		0.453	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	0	NM_000927		7:87138791
SIRPA	140885	broad.mit.edu	37	20	1902206	1902206	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr20:1902206T>C	ENST00000358771.4	+	3	754	c.602T>C	c.(601-603)gTa>gCa	p.V201A	SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	201	Ig-like C1-type 1.		VG -> AR.		blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTGGACCCCGTAGGAGAGAGC	0.572																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(601-603)gTa>gCa		signal-regulatory protein alpha							184.0	161.0	169.0					20																	1902206		2203	4300	6503	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902206T>C	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.602T>C	20.37:g.1902206T>C	ENSP00000351621:p.Val201Ala	False	False		Somatic	0				SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A|SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A	p.V201A	NM_001040023.1	NP_001035112.1	WXS	Illumina HiSeq	Phase_I	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	754	+			201		VG -> AR.	Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.602T>C	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.399729	0.01165	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.00603	6.28;6.28;6.28	4.51	-3.63	0.04529	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.260270	0.01824	N	0.034250	T	0.00300	0.0009	N	0.02391	-0.57	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.44375	-0.9332	10	0.09338	T	0.73	.	3.967	0.09436	0.6183:0.1704:0.1094:0.102	.	181;201;201	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	A	201	ENSP00000382941:V201A;ENSP00000348307:V201A;ENSP00000351621:V201A	ENSP00000348307:V201A	V	+	2	0	SIRPA	1850206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.252000	0.02880	-0.348000	0.08286	-1.353000	0.01230	GTA		0.572	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	0	NM_080792		20:1902206
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000355481.4_Missense_Mutation_p.R2676W|RYR1_ENST00000360985.3_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																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM044255	RYR1	M		c.(8026-8028)Cgg>Tgg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						75.0	67.0	70.0					19																	38994959		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38994959C>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	19.37:g.38994959C>T	ENSP00000352608:p.Arg2676Trp	False	False		Somatic	0				RYR1_ENST00000359596.3_Missense_Mutation_p.R2676W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W	p.R2676W	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		50	8157	+	all_cancers(60;7.91e-06)		2676		R -> W (in MHS1; located on the same allele as S-2787; dbSNP:rs28934001).	6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8026C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	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	.	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	RYR1	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		0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0			19:38994959
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000392425.3_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		NA																	0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	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				M phase of mitotic cell cycle	centriole|Golgi membrane		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	12.37:g.123682836C>T		False	False		Somatic	0				MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V	p.V661V			WXS	Illumina HiSeq	Phase_I	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	12	2189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		509					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.1983G>A																																																																																					0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2	0			12:123682836
GP1BA	2811	broad.mit.edu	37	17	4836037	4836037	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:4836037G>A	ENST00000329125.5	+	2	213	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	46	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						CAGACCTGCCGAAAGACACAA	0.552																																						ENST00000329125.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						c.(136-138)ccG>ccA		glycoprotein Ib (platelet), alpha polypeptide							153.0	154.0	154.0					17																	4836037		2183	4286	6469	SO:0001819	synonymous_variant	2811							g.chr17:4836037G>A		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.138G>A	17.37:g.4836037G>A		True	False		Somatic	0					p.P46P	NM_000173.5	NP_000164.5	WXS	Illumina HiSeq	Phase_I	E7ES66	E7ES66_HUMAN			2	213	+			46					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.138G>A	CCDS54068.1																																																																																				0.552	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1	0			17:4836037
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron|PAGR1_ENST00000320330.6_5'Flank	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					ENST00000300797.6		NA																	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	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				response to biotic stimulus	integral to membrane		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	16.37:g.29824835C>T	ENSP00000351608:p.Pro154Ser	True	False		Somatic	0				PRRT2_ENST00000358758.7_Missense_Mutation_p.P154S|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S	p.P154S			WXS	Illumina HiSeq	Phase_I	Q7Z6L0	PRRT2_HUMAN			2	634	+			154			Pro-rich.		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.460C>T	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	6.452	0.451562	0.12223	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70516	-0.49;0.42	4.04	1.99	0.26369	.	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	PRRT2	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		0.637	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	0	NM_145239		16:29824835
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	VEPH1_ENST00000543418.1_Silent_p.N770N|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N	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		NA																	0				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						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					plasma membrane		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	3.37:g.156978980G>A		False	False		Somatic	0				RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|VEPH1_ENST00000392833.2_Silent_p.N770N|VEPH1_ENST00000543418.1_Silent_p.N770N|RP11-550I24.2_ENST00000475102.1_RNA	p.N815N	NM_001167912.1	NP_001161384.1	WXS	Illumina HiSeq	Phase_I	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		14	2752	-			815			PH.		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.2445C>T	CCDS3179.1																																																																																				0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	0	NM_024621		3:156978980
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				large_intestine(5)|lung(4)	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				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		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	1.37:g.224922304C>T		False	False		Somatic	0					p.Y117Y	NM_152495.1	NP_689708.1	WXS	Illumina HiSeq	Phase_I	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	5	1233	+	Breast(184;0.218)		117						Silent	SNP	ENST00000272133.3	37	c.351C>T	CCDS1544.1																																																																																				0.517	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	0	NM_152495		1:224922304
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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	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				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	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	7.37:g.18067087T>C	ENSP00000424595:p.Ile107Val	False	False		Somatic	0					p.I107V	NM_175886.2	NP_787082	WXS	Illumina HiSeq	Phase_I	P21108	PRPS3_HUMAN			1	399	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		107					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.319A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	PRPS1L1	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		0.463	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	0	NM_175886		7:18067087
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						c.(892-894)Ggg>Agg		insulin receptor substrate 1							37.0	46.0	43.0					2																	227662563		2201	4297	6498	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	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	2.37:g.227662563C>T	ENSP00000304895:p.Gly298Arg	True	False		Somatic	0	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.G298R	NM_005544.2	NP_005535.1	WXS	Illumina HiSeq	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1912	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	NA			Ser-rich.			Missense_Mutation	SNP	ENST00000305123.5	37	c.892G>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584426	0.86748	.	.	ENSG00000169047	ENST00000305123	T	0.70164	-0.46	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	IRS1	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		0.687	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	0	NM_005544		2:227662563
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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						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				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	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	14.37:g.23893229T>C	ENSP00000347507:p.Thr937Ala	False	False		Somatic	0					p.T937A	NM_000257.2	NP_000248.2	WXS	Illumina HiSeq	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	23	2971	-	all_cancers(95;2.54e-05)		937					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2809A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247429	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	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	MYH7	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		0.522	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	NM_000257		14:23893229
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000311936.3_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	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.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)	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)			CCTACGCCACCAGCTCCAACT	0.348	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	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)	ENST00000311936.3	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		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	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(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	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	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Agt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	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	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	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.34G>A	12.37:g.25398285C>T	ENSP00000256078:p.Gly12Ser	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	p.G12S	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	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	225	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|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		NA																	0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2011-2013)gCt>gTt		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						128.0	111.0	117.0					11																	74915507		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	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	11.37:g.74915507C>T	ENSP00000289575:p.Ala671Val	False	False		Somatic	0				SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	p.A671V	NM_007256.4	NP_009187	WXS	Illumina HiSeq	Phase_I	O94956	SO2B1_HUMAN			14	2407	+			671					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.2012C>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	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	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	SLCO2B1	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		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	0	NM_007256		11:74915507
SPATA31A6	389730	broad.mit.edu	37	9	43627757	43627757	+	Silent	SNP	A	A	G	rs200803614	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:43627757A>G	ENST00000332857.6	-	4	958	c.930T>C	c.(928-930)tgT>tgC	p.C310C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	310					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCATCTGACAGGTCTCTG	0.532													A|||	7	0.00139776	0.0	0.0029	5008	,	,		14909	0.0		0.004	False		,,,				2504	0.001					ENST00000332857.6		NA																	0					NA						c.(928-930)tgT>tgC		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627757		300	906	1206	SO:0001819	synonymous_variant	389730							g.chr9:43627757A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.930T>C	9.37:g.43627757A>G		False	False		Somatic	0					p.C310C	NM_001145196.1	NP_001138668.1	WXS	Illumina HiSeq	Phase_I					4	958	-			NA						Silent	SNP	ENST00000332857.6	37	c.930T>C	CCDS47973.1																																																																																				0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	0	NM_001145196		9:43627757
ARC	23237	broad.mit.edu	37	8	143694625	143694625	+	Silent	SNP	G	G	A	rs367748647		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694625G>A	ENST00000356613.2	-	1	2208	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	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)				GGTGGCGCAGGAAACGCTTGA	0.682																																						ENST00000356613.2		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13						c.(1006-1008)ttC>ttT		activity-regulated cytoskeleton-associated protein		G		0,4406		0,0,2203	55.0	56.0	56.0		1008	1.9	1.0	8		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARC	NM_015193.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		336/397	143694625	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143694625G>A	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.1008C>T	8.37:g.143694625G>A		True	False		Somatic	0					p.F336F	NM_015193.4	NP_056008.1	WXS	Illumina HiSeq	Phase_I	Q7LC44	ARC_HUMAN			1	2208	-	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)	336					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1008C>T	CCDS34950.1																																																																																				0.682	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2	0			8:143694625
ZNF780A	284323	broad.mit.edu	37	19	40580912	40580912	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:40580912C>T	ENST00000595687.2	-	6	1646	c.1437G>A	c.(1435-1437)ggG>ggA	p.G479G	ZNF780A_ENST00000340963.5_Silent_p.G479G|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000450241.2_Silent_p.G445G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.G480G	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAAGGCCTTCCCACAGTCTT	0.423																																						ENST00000450241.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1333-1335)ggG>ggA		zinc finger protein 780A							120.0	115.0	117.0					19																	40580912		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580912C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1437G>A	19.37:g.40580912C>T		True	False		Somatic	0				ZNF780A_ENST00000340963.5_Silent_p.G479G|ZNF780A_ENST00000455521.1_Silent_p.G480G|ZNF780A_ENST00000595687.2_Silent_p.G479G|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.G480G|AC005614.5_ENST00000595508.1_RNA	p.G445G			WXS	Illumina HiSeq	Phase_I	O75290	Z780A_HUMAN			6	1646	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		479					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1335G>A	CCDS33026.2																																																																																				0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	0	NM_001010880		19:40580912
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	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				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	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	14.37:g.22133993C>T	ENSP00000386195:p.Arg233Cys	True	False		Somatic	0					p.R233C	NM_001001912.1	NP_001001912.1	WXS	Illumina HiSeq	Phase_I	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	697	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	233					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.697C>T	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718980	0.48622	.	.	ENSG00000221977	ENST00000408935	T	0.00337	8.05	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	OR4E2	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		0.527	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1	0			14:22133993
OR14K1	343170	broad.mit.edu	37	1	247902215	247902215	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:247902215T>C	ENST00000283225.2	+	1	299	c.299T>C	c.(298-300)tTc>tCc	p.F100S	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTGCAGCTCTTCTTGGTGGTA	0.542																																						ENST00000283225.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(298-300)tTc>tCc		olfactory receptor, family 14, subfamily K, member 1							105.0	106.0	106.0					1																	247902215		2194	4295	6489	SO:0001583	missense	343170							g.chr1:247902215T>C	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.299T>C	1.37:g.247902215T>C	ENSP00000283225:p.Phe100Ser	False	False		Somatic	0				RP11-634B7.4_ENST00000449298.1_RNA	p.F100S			WXS	Illumina HiSeq	Phase_I					1	299	+			NA					A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.299T>C		.	.	.	.	.	.	.	.	.	.	T	16.12	3.034135	0.54896	.	.	ENSG00000153230	ENST00000283225	T	0.06294	3.32	3.74	3.74	0.42951	.	0.195044	0.24056	U	0.041942	T	0.11793	0.0287	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.03483	-1.1032	7	0.87932	D	0	.	11.368	0.49684	0.0:0.0:0.0:1.0	.	.	.	.	S	100	ENSP00000283225:F100S	ENSP00000283225:F100S	F	+	2	0	OR14K1	245968838	0.000000	0.05858	0.009000	0.14445	0.060000	0.15804	-0.555000	0.05999	1.525000	0.49052	0.496000	0.49642	TTC		0.542	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	0	NM_001004732		1:247902215
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	1	Substitution - coding silent(1)	p.R2505R(1)	endometrium(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						c.(7513-7515)cgC>cgT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						153.0	147.0	149.0					2																	170062574		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	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	2.37:g.170062574G>A		False	False		Somatic	0					p.R2505R	NM_004525.2	NP_004516.2	WXS	Illumina HiSeq	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7800	-			2505					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7515C>T	CCDS2232.1																																																																																				0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	NM_004525		2:170062574
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	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q|ZWILCH_ENST00000446801.2_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		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	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				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	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	15.37:g.66832448G>A		True	False		Somatic	0				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	WXS	Illumina HiSeq	Phase_I	Q9H900	ZWILC_HUMAN			17	1967	+			529					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	ENST00000307897.5	37	c.1587G>A	CCDS10219.1																																																																																				0.373	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	0	NM_017975		15:66832448
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				kidney(1)|large_intestine(5)|lung(9)	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					nucleus	zinc ion binding	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	13.37:g.20409664G>A	ENSP00000337034:p.Gln402*	False	False		Somatic	0					p.Q402*	NM_001142684.1	NP_001136156.1	WXS	Illumina HiSeq	Phase_I	Q9UJ78	ZMYM5_HUMAN		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)	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)	402					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Nonsense_Mutation	SNP	ENST00000337963.4	37	c.1204C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.428971	0.97559	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	.	.	.	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	ZMYM5	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		0.378	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_014242		13:20409664
TRGV8	6982	broad.mit.edu	37	7	38370217	38370217	+	RNA	SNP	C	C	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:38370217C>G	ENST00000390343.2	-	0	194				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		TGGTGACTGACTTTGTTCTCC	0.463																																						ENST00000390343.2		NA																	0					NA															71.0	69.0	69.0					7																	38370217		1911	4130	6041			0							g.chr7:38370217C>G	M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370217C>G		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	194	-			NA						RNA	SNP	ENST00000390343.2	37																																																																																						0.463	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338399.4	0	NG_001336		7:38370217
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V			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		NA																	0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	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						protein binding	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	2.37:g.197990583G>A	ENSP00000331516:p.Ala122Val	False	False		Somatic	0				ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V	p.A122V			WXS	Illumina HiSeq	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		5	441	-			147					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	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	.	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	ANKRD44	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		0.542	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	0	NM_153697		2:197990583
NOS1	4842	broad.mit.edu	37	12	117703242	117703242	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:117703242C>T	ENST00000338101.4	-	11	2019	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	NOS1_ENST00000317775.6_Missense_Mutation_p.R672H|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCCCGGCAGCGGTACTCATT	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2014-2016)cGc>cAc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						35.0	38.0	37.0					12																	117703242		2105	4263	6368	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117703242C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2015G>A	12.37:g.117703242C>T	ENSP00000337459:p.Arg672His	False	False		Somatic	0				NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R672H	p.R672H	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	WXS	Illumina HiSeq	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2700	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		672						Missense_Mutation	SNP	ENST00000338101.4	37	c.2015G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965956	0.74131	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.26660	1.72;1.72	5.37	4.48	0.54585	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.54801	-0.8239	10	0.87932	D	0	-23.9465	14.1209	0.65186	0.0:0.9273:0.0:0.0727	.	672	P29475	NOS1_HUMAN	H	567;672;672;672	ENSP00000320758:R672H;ENSP00000337459:R672H	ENSP00000320758:R672H	R	-	2	0	NOS1	116187625	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.753000	0.62183	1.503000	0.48686	0.655000	0.94253	CGC		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	0			12:117703242
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000375069.3_5'UTR|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000438221.2_Silent_p.R48R	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		NA																	0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	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				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	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	6.37:g.32151673C>T		False	False		Somatic	0				AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375067.3_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000438221.2_Silent_p.R48R|AGER_ENST00000375065.5_Silent_p.R48R|AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R	p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	WXS	Illumina HiSeq	Phase_I	Q15109	RAGE_HUMAN			2	245	-			48			Ig-like V-type.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Silent	SNP	ENST00000375076.4	37	c.144G>A	CCDS4746.1																																																																																				0.582	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	0	NM_001136		6:32151673
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V	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		NA																	0				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						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				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	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	12.37:g.110230539G>A	ENSP00000406191:p.Ala581Val	True	False		Somatic	0				TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V	p.A581V	NM_001177431.1	NP_001170902.1	WXS	Illumina HiSeq	Phase_I	Q9HBA0	TRPV4_HUMAN			10	1836	-			581					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1742C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	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	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	TRPV4	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		0.587	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	NM_021625		12:110230539
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	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S|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																																						ENST00000225983.6		NA																	0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2518-2520)Gcc>Tcc		histone deacetylase 5							85.0	61.0	69.0					17																	42160137		2200	4299	6499	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	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	17.37:g.42160137C>A	ENSP00000377244:p.Ala839Ser	False	False		Somatic	0				HDAC5_ENST00000393622.2_Missense_Mutation_p.A839S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S	p.A840S			WXS	Illumina HiSeq	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	19	2841	-		Breast(137;0.00637)|Prostate(33;0.0313)	839			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2518G>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	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	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	HDAC5	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		0.602	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	0	NM_001015053		17:42160137
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	1	Substitution - Missense(1)	p.R439C(1)	large_intestine(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						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				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	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	X.37:g.130220336C>T	ENSP00000276211:p.Arg439Cys	False	False		Somatic	0				ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	p.R439C	NM_144967.3	NP_659404.2	WXS	Illumina HiSeq	Phase_I	Q6ZRI8	RHG36_HUMAN			10	1660	+			439					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1315C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	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	.	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	ARHGAP36	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		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	0	NM_144967		X:130220336
POM121C	100101267	broad.mit.edu	37	7	75051015	75051015	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:75051015C>T	ENST00000257665.5	-	11	3245	c.3246G>A	c.(3244-3246)tcG>tcA	p.S1082S	POM121C_ENST00000473168.1_5'Flank|POM121C_ENST00000453279.2_Silent_p.S840S			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1082	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CGGGGGCTGCCGAACCCCCAA	0.652																																						ENST00000453279.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(2518-2520)tcG>tcA		POM121 transmembrane nucleoporin C							4.0	6.0	5.0					7																	75051015		1709	3613	5322	SO:0001819	synonymous_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75051015C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3246G>A	7.37:g.75051015C>T		False	False		Somatic	0				POM121C_ENST00000257665.5_Silent_p.S1082S	p.S840S	NM_001099415.1	NP_001092885	WXS	Illumina HiSeq	Phase_I	A8CG34	P121C_HUMAN			13	3384	-			1082			Pore side (Potential).|Thr-rich.		O75115|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000257665.5	37	c.2520G>A																																																																																					0.652	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	0	NM_001099415		7:75051015
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:125396503G>A	ENST00000538617.1	-	4	991	c.675C>T	c.(673-675)ctC>ctT	p.L225L	UBC_ENST00000536769.1_Silent_p.L605L|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000339647.5_Silent_p.L605L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537																																						ENST00000536769.1		NA																	1	Substitution - coding silent(1)	p.L605L(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1813-1815)ctC>ctT		ubiquitin C							107.0	67.0	81.0					12																	125396503		2200	4279	6479	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396503G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.675C>T	12.37:g.125396503G>A		False	False		Somatic	0				UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000546120.1_Silent_p.L529L	p.L605L			WXS	Illumina HiSeq	Phase_I	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	3391	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		605			Ubiquitin-like 8.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.1815C>T																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	0	NM_021009		12:125396503
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	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	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				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	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	4.37:g.6596365G>C	ENSP00000285599:p.Gln321His	False	False		Somatic	0				MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	p.Q321H	NM_015274.1	NP_056089.1	WXS	Illumina HiSeq	Phase_I	Q9Y2E5	MA2B2_HUMAN			7	999	+			321					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.963G>C	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	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	MAN2B2|MAN2B2	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		0.597	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	0	NM_015274		4:6596365
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	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR|MIR1254-1_ENST00000408257.1_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		NA																	0				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						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				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	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	10.37:g.70516196G>A	ENSP00000265872:p.Val598Ile	False	False		Somatic	0				CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I	p.V598I	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	WXS	Illumina HiSeq	Phase_I	Q8IX12	CCAR1_HUMAN			14	1911	+			598					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1792G>A	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	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	.	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	CCAR1	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		0.522	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	0	NM_018237		10:70516196
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	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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																																						ENST00000531383.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(49-51)Atc>Ttc		beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)							45.0	41.0	42.0					11																	62389371		2202	4296	6498	SO:0001583	missense	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	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	11.37:g.62389371T>A	ENSP00000265471:p.Ile17Phe	False	False		Somatic	0				B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000265471.5_Missense_Mutation_p.I17F	p.I17F			WXS	Illumina HiSeq	Phase_I	O94766	B3GA3_HUMAN			1	255	-			17					B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.49A>T	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	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	.	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	B3GAT3	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		0.746	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	0	NM_012200		11:62389371
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						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					integral to membrane	neuropeptide receptor activity	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	4.37:g.7666172G>A	ENSP00000422185:p.Val349Met	False	False		Somatic	0				SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	p.V349M	NM_020777.2	NP_065828.2	WXS	Illumina HiSeq	Phase_I	Q96PQ0	SORC2_HUMAN			7	1154	+			349					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1045G>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	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	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	SORCS2	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		0.532	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	0	NM_020777		4:7666172
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W			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		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	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				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	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	2.37:g.220500451C>T	ENSP00000350756:p.Arg677Trp	False	False		Somatic	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			WXS	Illumina HiSeq	Phase_I	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	2541	+		Renal(207;0.0183)	677					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2029C>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	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	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	SLC4A3	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		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	0	NM_005070		2:220500451
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	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				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		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	8.37:g.143694586G>T		False	False		Somatic	0					p.I349I	NM_015193.4	NP_056008.1	WXS	Illumina HiSeq	Phase_I	Q7LC44	ARC_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)	349					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.1047C>A	CCDS34950.1																																																																																				0.697	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2	0			8:143694586
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	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*|RALGPS1_ENST00000424082.2_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		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	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				multicellular organismal development|signal transduction	extracellular space	receptor binding	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	9.37:g.129851341G>T	ENSP00000362524:p.Tyr453*	False	False		Somatic	0				RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*	p.Y453*	NM_012098.2	NP_036230.1	WXS	Illumina HiSeq	Phase_I	Q9UKU9	ANGL2_HUMAN			5	1976	-			453			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Nonsense_Mutation	SNP	ENST00000373425.3	37	c.1359C>A	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.542895	0.99199	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	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	ANGPTL2	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		0.582	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	0	NM_012098		9:129851341
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	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				lung(3)	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				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding	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	11.37:g.62533969T>C	ENSP00000301788:p.Leu170Pro	False	False		Somatic	0					p.L170P	NM_002696.2	NP_002687.1	WXS	Illumina HiSeq	Phase_I	P62487	RPB7_HUMAN			8	614	+			170					B2R5C0|P52433|Q2M1Z4	Missense_Mutation	SNP	ENST00000301788.7	37	c.509T>C	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933223	0.52866	.	.	ENSG00000168002	ENST00000301788	T	0.60672	0.17	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	POLR2G	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		0.488	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	0	NM_002696		11:62533969
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						c.(8602-8604)ccG>ccA		hemicentin 1							164.0	161.0	162.0					1																	186050343		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	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	1.37:g.186050343G>A		False	False		Somatic	0				HMCN1_ENST00000367492.2_Silent_p.P2868P	p.P2868P	NM_031935.2	NP_114141.2	WXS	Illumina HiSeq	Phase_I	Q96RW7	HMCN1_HUMAN			56	8833	+			2868			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8604G>A	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	NM_031935		1:186050343
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000590083.1_Silent_p.D28D|AC004221.2_ENST00000592843.1_lincRNA			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)																												ENST00000590083.1		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(82-84)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					integral to membrane		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	19.37:g.1236016G>A		False	False	HNSCC(14;0.022)	Somatic	0				C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000382477.2_Silent_p.D22D	p.D28D			WXS	Illumina HiSeq	Phase_I	Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	376	-		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)	22			Thr-rich.		O43385	Silent	SNP	ENST00000382477.2	37	c.84C>T																																																																																					0.687	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_152769		19:1236016
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	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000510216.1_5'Flank|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		NA																	0				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						c.(2218-2220)Gag>Aag		myotubularin related protein 12							154.0	135.0	142.0					5																	32229910		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	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	5.37:g.32229910C>T	ENSP00000371577:p.Glu740Lys	False	False		Somatic	0				MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	p.E740K	NM_001040446.1	NP_001035536.1	WXS	Illumina HiSeq	Phase_I	Q9C0I1	MTMRC_HUMAN			16	2388	-			740					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.2218G>A	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	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	.	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	MTMR12	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		0.507	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	0	NM_019061		5:32229910
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	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V|ENC1_ENST00000509284.1_5'Flank	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		NA																	0				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						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				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	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	5.37:g.73930609T>C	ENSP00000306356:p.Ile568Val	False	False		Somatic	0				ENC1_ENST00000510316.1_Missense_Mutation_p.I495V|ENC1_ENST00000537006.1_Missense_Mutation_p.I568V	p.I568V	NM_003633.3	NP_003624.1	WXS	Illumina HiSeq	Phase_I	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2832	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	568	YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532).				B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1702A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	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	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	ENC1	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		0.473	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	0	NM_003633		5:73930609
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						c.(7120-7122)tCa>tAa		cardiomyopathy associated 5							36.0	35.0	36.0					5																	79031709		1865	4115	5980	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		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	5.37:g.79031709C>A	ENSP00000394770:p.Ser2374*	False	False		Somatic	0					p.S2374*	NM_153610.3	NP_705838.3	WXS	Illumina HiSeq	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7152	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2374					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.7121C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	46	12.721702	0.99691	.	.	ENSG00000164309	ENST00000446378	.	.	.	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	CMYA5	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		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79031709
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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	1	Deletion - Frameshift(1)	p.P114fs*3(1)	breast(1)	breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(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					keratin filament	protein binding	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	17.37:g.39389087T>G	ENSP00000392189:p.Cys112Gly	True	False		Somatic	0					p.C112G	NM_031962.2	NP_114168.1	WXS	Illumina HiSeq	Phase_I	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	373	+		Breast(137;0.000496)	112			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.334T>G	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	9.806	1.181974	0.21787	.	.	ENSG00000204873	ENST00000411528	T	0.01647	4.71	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	KRTAP9-3	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		0.602	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1	0			17:39389087
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3		NA																	5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	False	False		Somatic	0					p.T537A	NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662		2:112608394
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	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S			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		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	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)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						50.0	47.0	48.0					12																	7177305		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	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	12.37:g.7177305G>T	ENSP00000385035:p.Ala473Ser	False	False		Somatic	0				C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.A306S|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S	p.A473S			WXS	Illumina HiSeq	Phase_I	P09871	C1S_HUMAN			15	2045	+			473			Peptidase S1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1417G>T	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	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	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	C1S	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		0.517	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	0	NM_001734		12:7177305
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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.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)	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)			GCCTACGCCACCAGCTCCAAC	0.348	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)	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)	ENST00000311936.3	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)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|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)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	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						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	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	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	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.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	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	226	-	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)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L|ANK3_ENST00000503366.1_Silent_p.L1293L	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		NA																	0				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						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				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	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	10.37:g.61844558T>C		True	False		Somatic	0				ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000355288.2_Silent_p.L426L|ANK3_ENST00000503366.1_Silent_p.L1293L	p.L1292L	NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			32	4067	-			NA					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.3876A>G	CCDS7258.1																																																																																				0.363	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:61844558
AQP10	89872	broad.mit.edu	37	1	154300339	154300339	+	IGR	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:154300339C>A	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000368489.3_Splice_Site|ATP8B2_ENST00000368487.3_Intron|ATP8B2_ENST00000341822.2_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTACAGGCATGGGCTTCT	0.557																																						ENST00000368489.3		NA																IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.e1+2		ATPase, aminophospholipid transporter, class I, type 8B, member 2							178.0	168.0	172.0					1																	154300339		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300339C>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300339C>A		False	False		Somatic	0				ATP8B2_ENST00000368487.3_Intron		NM_020452.3	NP_065185.1	WXS	Illumina HiSeq	Phase_I	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	62	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		NA					Q5VYD3|Q5VYD4|Q8NG70	Splice_Site	SNP	ENST00000324978.3	37		CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	3.992	-0.004367	0.07773	.	.	ENSG00000143515	ENST00000368489	.	.	.	3.21	-0.116	0.13555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9415	0.03348	0.2644:0.3646:0.0:0.371	.	.	.	.	.	-1	.	.	.	+	.	.	ATP8B2	152566963	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.189000	0.09629	-0.019000	0.14055	0.455000	0.32223	.		0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	0	NM_080429		1:154300339
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	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R	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		NA																	0				endometrium(1)|lung(3)	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				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		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	19.37:g.50314661A>G	ENSP00000313309:p.Cys151Arg	True	False		Somatic	0				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|FUZ_ENST00000534008.1_5'UTR	p.C151R	NM_025129.4	NP_079405.2	WXS	Illumina HiSeq	Phase_I	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	5	614	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	151					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.451T>C	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	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	.	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	FUZ	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		0.572	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	0	NM_025129		19:50314661
TXNDC2	84203	broad.mit.edu	37	18	9886941	9886941	+	Silent	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr18:9886941A>G	ENST00000306084.6	+	2	664	c.465A>G	c.(463-465)aaA>aaG	p.K155K	TXNDC2_ENST00000357775.5_Silent_p.K88K|TXNDC2_ENST00000536353.2_Silent_p.K88K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	155	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCTCAGCAAAACCCATCCAGC	0.547																																						ENST00000357775.5		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(262-264)aaA>aaG		thioredoxin domain containing 2 (spermatozoa)							131.0	137.0	135.0					18																	9886941		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886941A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.465A>G	18.37:g.9886941A>G		True	False		Somatic	0				TXNDC2_ENST00000306084.6_Silent_p.K155K|TXNDC2_ENST00000536353.2_Silent_p.K88K	p.K88K	NM_032243.5	NP_115619.4	WXS	Illumina HiSeq	Phase_I	Q86VQ3	TXND2_HUMAN			2	499	+			NA					A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.264A>G	CCDS42414.1																																																																																				0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1	0			18:9886941
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	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						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					cytoplasm	protein binding	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	12.37:g.112530884T>C	ENSP00000261745:p.Lys39Glu	False	False		Somatic	0					p.K39E	NM_024953.3	NP_079229.2	WXS	Illumina HiSeq	Phase_I	Q14CX7	NAA25_HUMAN			2	363	-			39					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.115A>G	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	32	5.154751	0.94686	.	.	ENSG00000111300	ENST00000261745	T	0.36340	1.26	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	NAA25	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		0.313	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	0	NM_024953		12:112530884
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000356842.4_Silent_p.N474N	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		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				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						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				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	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	2.37:g.60688625G>A		False	False		Somatic	0				BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000356842.4_Silent_p.N474N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	p.N474N	NM_022893.3	NP_075044.2	WXS	Illumina HiSeq	Phase_I	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	-			474					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1422C>T	CCDS1862.1																																																																																				0.642	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	0	NM_022893		2:60688625
IFNLR1	163702	broad.mit.edu	37	1	24495932	24495932	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:24495932G>A	ENST00000327535.1	-	3	354	c.342C>T	c.(340-342)tcC>tcT	p.S114S	IFNLR1_ENST00000327575.2_Silent_p.S114S|IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S|IFNLR1_ENST00000374418.3_Silent_p.S114S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	114	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CCAGGTATTCGGACTCCACCC	0.537																																						ENST00000327535.1		NA																	0					NA						c.(340-342)tcC>tcT		interferon, lambda receptor 1							82.0	75.0	78.0					1																	24495932		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24495932G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.342C>T	1.37:g.24495932G>A		False	False		Somatic	0				IFNLR1_ENST00000374421.3_Silent_p.S114S|IFNLR1_ENST00000374418.3_Silent_p.S114S|IFNLR1_ENST00000327575.2_Silent_p.S114S|IFNLR1_ENST00000374419.1_Silent_p.S31S	p.S114S	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	WXS	Illumina HiSeq	Phase_I					3	354	-			NA					Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.342C>T	CCDS248.1																																																																																				0.537	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	0	NM_170743		1:24495932
PLEC	5339	broad.mit.edu	37	8	145027910	145027910	+	5'Flank	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145027910C>T	ENST00000322810.4	-	0	0				PLEC_ENST00000354958.2_Silent_p.E10E|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGAGCTGATCTCGTTCTGGA	0.726																																						ENST00000354958.2		NA																	0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(28-30)gaG>gaA		plectin							23.0	29.0	27.0					8																	145027910		1972	4133	6105	SO:0001631	upstream_gene_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145027910C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291		8.37:g.145027910C>T	Exception_encountered	False	False		Somatic	0				PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	p.E10E	NM_201379.1	NP_958781.1	WXS	Illumina HiSeq	Phase_I	Q15149	PLEC_HUMAN			1	178	-			0			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.30G>A	CCDS43772.1																																																																																				0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	NM_000445		8:145027910
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	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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_ENST00000540274.1_Missense_Mutation_p.R1008C|C8orf82_ENST00000313465.5_5'Flank|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|C8orf82_ENST00000524821.1_5'Flank			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		NA																	0				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						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				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	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	8.37:g.145756121G>A	ENSP00000276826:p.Arg1008Cys	False	False		Somatic	0				ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C	p.R1008C			WXS	Illumina HiSeq	Phase_I	Q9C0H5	RHG39_HUMAN			9	3223	-			1008			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.3022C>T		.	.	.	.	.	.	.	.	.	.	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	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	ARHGAP39	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		0.721	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	0			8:145756121
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	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	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				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	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	2.37:g.9663463T>A	ENSP00000309968:p.Glu253Val	False	False		Somatic	0				ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	p.E253V	NM_003183.4	NP_003174.3	WXS	Illumina HiSeq	Phase_I	P78536	ADA17_HUMAN		Epithelial(75;0.225)	7	940	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		253			Peptidase M12B.		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.758A>T	CCDS1665.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	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	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	ADAM17|ADAM17	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		0.333	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	0			2:9663463
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1240-1242)ttC>ttT		synaptotagmin XVI							38.0	43.0	41.0					14																	62547800		2155	4270	6425	SO:0001819	synonymous_variant	83851							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	14.37:g.62547800C>T		False	False		Somatic	0				RP11-355I22.5_ENST00000553990.1_lincRNA	p.F414F	NM_031914.2	NP_114120.2	WXS	Illumina HiSeq	Phase_I	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1439	+			414			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1242C>T	CCDS45121.1																																																																																				0.582	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	0	NM_031914		14:62547800
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	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				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						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				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	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	16.37:g.1811270G>T	ENSP00000250894:p.Glu500Asp	False	False		Somatic	0				MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	p.E500D	NM_015133.3	NP_055948.2	WXS	Illumina HiSeq	Phase_I	Q9UPT6	JIP3_HUMAN			13	1657	+			500					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.1500G>T	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156321	0.09236	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17691	2.26;2.26	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	MAPK8IP3	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		0.602	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	0	NM_001040439		16:1811270
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	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000498660.1_5'Flank|TUBA4A_ENST00000392088.2_Silent_p.L376L	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																																						ENST00000392088.2		NA																	0				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						c.(1126-1128)ctG>ctA		tubulin, alpha 4a							101.0	89.0	93.0					2																	220115248		2203	4300	6503	SO:0001819	synonymous_variant	7277				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	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	2.37:g.220115248C>T		False	False		Somatic	0				TUBA4A_ENST00000248437.4_Silent_p.L391L	p.L376L	NM_001278552.1	NP_001265481.1	WXS	Illumina HiSeq	Phase_I	P68366	TBA4A_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1683	-		Renal(207;0.0474)	391					A8MUB1|B3KNQ6|P05215	Silent	SNP	ENST00000248437.4	37	c.1128G>A	CCDS2438.1																																																																																				0.637	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	0	NM_006000		2:220115248
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	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	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		NA																	0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1810-1812)aCg>aTg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						90.0	79.0	83.0					19																	1005311		2203	4300	6503	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	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	19.37:g.1005311C>T	ENSP00000234389:p.Thr604Met	False	False		Somatic	0					p.T604M	NM_138690.1	NP_619635.1	WXS	Illumina HiSeq	Phase_I	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	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)	604					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1811C>T	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988790	0.53934	.	.	ENSG00000116032	ENST00000234389	T	0.54479	0.57	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	GRIN3B	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		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	0			19:1005311
