#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
MAP3K12	7786	broad.mit.edu	37	12	53881021	53881022	+	Intron	INS	-	-	GTGCTTCAGTAGATGAACAGTGTTAT			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53881021_53881022insGTGCTTCAGTAGATGAACAGTGTTAT	ENST00000267079.2	-	2	363				MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.V52fs|MAP3K12_ENST00000547035.1_Frame_Shift_Ins_p.V52fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGGGTACCACATCTCGAAGT	0.619																																						ENST00000547035.1		NA																	0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(154-156)gtgfs		mitogen-activated protein kinase kinase kinase 12																																				SO:0001627	intron_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53881021_53881022insGTGCTTCAGTAGATGAACAGTGTTAT	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.137+16->ATAACACTGTTCATCTACTGAAGCAC	12.37:g.53881021_53881022insGTGCTTCAGTAGATGAACAGTGTTAT		False	False		Somatic	0				MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.V52fs|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547151.1_Intron	p.V52fs			WXS	Illumina HiSeq	Phase_I	Q12852	M3K12_HUMAN			2	358_359	-			46					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Ins	INS	ENST00000267079.2	37	c.154_155insATAACACTGTTCATCTACTGAAGCAC	CCDS8860.1																																																																																				0.619	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	0	NM_006301		12:53881021
MYO5A	4644	broad.mit.edu	37	15	52675386	52675387	+	Splice_Site	INS	-	-	CACCCAGTGAGAAAGTACATATCT			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:52675386_52675387insCACCCAGTGAGAAAGTACATATCT	ENST00000399231.3	-	16	2158		c.e16-1		MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGTTTCTGAACTGCATGAAAAA	0.45																																						ENST00000399231.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e16-1		myosin VA (heavy chain 12, myoxin)																																				SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52675386_52675387insCACCCAGTGAGAAAGTACATATCT		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1915-1->AGATATGTACTTTCTCACTGGGTG	15.37:g.52675386_52675387insCACCCAGTGAGAAAGTACATATCT		False	False		Somatic	0				MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site		NM_000259.3	NP_000250.3	WXS	Illumina HiSeq	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	16	2158	-			NA					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	INS	ENST00000399231.3	37		CCDS42037.1																																																																																				0.450	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	0	NM_000259	Intron	15:52675386
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	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
ANKRD54	129138	broad.mit.edu	37	22	38243711	38243757	+	Intron	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	rs571768451|rs538871264|rs557855135|rs369207831|rs551625430		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000609454.1	-	1	391				EIF3L_ENST00000381683.6_5'Flank|MIR659_ENST00000384963.1_RNA|EIF3L_ENST00000412331.2_5'Flank|EIF3L_ENST00000406934.1_5'Flank			Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421																																						ENST00000384963.1		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000609454.1:c.26+1186ACCTTCCCTGAACCAAGGAAGAGTCACAGTCTCTTCCTTGGTTCAGG>-	22.37:g.38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT		False	False		Somatic	1						NR_030396.1		WXS	Illumina HiSeq	Phase_I					0	24_70	-			NA					Q6ZSB1|Q9UGV1	RNA	DEL	ENST00000609454.1	37																																																																																						0.421	ANKRD54-013	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000472272.1	0	NM_138797		22:38243711
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	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
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
DTX2	113878	broad.mit.edu	37	7	76112193	76112193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:76112193C>T	ENST00000324432.5	+	5	1147	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	213					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CGTGTCAGGCCGCTACCGCCA	0.662																																						ENST00000324432.5		NA																	0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(637-639)Cgc>Tgc		deltex homolog 2 (Drosophila)							68.0	74.0	72.0					7																	76112193		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112193C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.637C>T	7.37:g.76112193C>T	ENSP00000322885:p.Arg213Cys	False	False		Somatic	0				DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C	p.R213C	NM_020892.2	NP_065943.2	WXS	Illumina HiSeq	Phase_I	Q86UW9	DTX2_HUMAN			5	1147	+			213					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.637C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.918915	0.92249	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.14022	2.58;2.54;2.59;2.58;2.58;2.54	5.18	5.18	0.71444	.	0.116998	0.64402	D	0.000014	T	0.37625	0.1010	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;P	0.87578	0.899;0.998;0.891	T	0.09185	-1.0686	10	0.59425	D	0.04	-21.9242	17.6737	0.88224	0.0:1.0:0.0:0.0	.	122;213;213	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	C	213;213;122;122;213;213;213	ENSP00000322885:R213C;ENSP00000305242:R213C;ENSP00000397648:R122C;ENSP00000390218:R213C;ENSP00000411986:R213C;ENSP00000392545:R213C	ENSP00000305242:R213C	R	+	1	0	AC005522.1	75950129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.638000	0.61353	2.434000	0.82447	0.561000	0.74099	CGC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2	0			7:76112193
BIRC6	57448	broad.mit.edu	37	2	32774524	32774524	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:32774524T>C	ENST00000421745.2	+	65	13254	c.13120T>C	c.(13120-13122)Tca>Cca	p.S4374P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4374					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCAGCCATGTCATCTTATCT	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2		NA																	0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13120-13122)Tca>Cca		baculoviral IAP repeat containing 6							124.0	118.0	120.0					2																	32774524		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774524T>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13120T>C	2.37:g.32774524T>C	ENSP00000393596:p.Ser4374Pro	False	False		Somatic	0					p.S4374P	NM_016252.3	NP_057336	WXS	Illumina HiSeq	Phase_I	Q9NR09	BIRC6_HUMAN			65	13254	+	Acute lymphoblastic leukemia(172;0.155)		4374					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13120T>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026649	0.75390	.	.	ENSG00000115760	ENST00000421745	T	0.76316	-1.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.71036	2.16	0.80722	D	1	P	0.47409	0.895	P	0.49528	0.614	D	0.85059	0.0933	10	0.87932	D	0	.	15.4948	0.75641	0.0:0.0:0.0:1.0	.	4374	Q9NR09	BIRC6_HUMAN	P	4374	ENSP00000393596:S4374P	ENSP00000393596:S4374P	S	+	1	0	BIRC6	32628028	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.186000	0.72026	2.066000	0.61787	0.528000	0.53228	TCA		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	0	NM_016252		2:32774524
LRIG1	26018	broad.mit.edu	37	3	66434562	66434562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:66434562C>T	ENST00000273261.3	-	14	2448	c.1924G>A	c.(1924-1926)Gct>Act	p.A642T	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A666T|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	642	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCACGGGCAGCGGGGAAATCC	0.562																																						ENST00000383703.3		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1996-1998)Gct>Act		leucine-rich repeats and immunoglobulin-like domains 1							136.0	124.0	128.0					3																	66434562		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66434562C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1924G>A	3.37:g.66434562C>T	ENSP00000273261:p.Ala642Thr	True	False		Somatic	0				LRIG1_ENST00000273261.3_Missense_Mutation_p.A642T|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	p.A666T			WXS	Illumina HiSeq	Phase_I	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2599	-		Lung NSC(201;0.0101)	642			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1996G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385298	0.82792	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.66815	-0.23;-0.13	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78450	-0.2199	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	666;642;642	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	642;666;545	ENSP00000273261:A642T;ENSP00000373208:A666T	ENSP00000273261:A642T	A	-	1	0	LRIG1	66517252	1.000000	0.71417	0.095000	0.20976	0.015000	0.08874	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCT		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	0	NM_015541		3:66434562
AHNAK2	113146	broad.mit.edu	37	14	105410162	105410162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:105410162C>T	ENST00000333244.5	-	7	11745	c.11626G>A	c.(11626-11628)Gtg>Atg	p.V3876M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3876						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCTCGGGCACGTGGCCCTCC	0.592																																						ENST00000333244.5		NA																	0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11626-11628)Gtg>Atg		AHNAK nucleoprotein 2							132.0	140.0	137.0					14																	105410162		1938	4139	6077	SO:0001583	missense	113146					nucleus		g.chr14:105410162C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11626G>A	14.37:g.105410162C>T	ENSP00000353114:p.Val3876Met	False	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.V3876M	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11745	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3876					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11626G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.79	1.742666	0.30865	.	.	ENSG00000185567	ENST00000333244	T	0.01059	5.39	3.98	-7.96	0.01144	.	.	.	.	.	T	0.01940	0.0061	L	0.39147	1.195	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.05194	-1.0900	9	0.41790	T	0.15	.	1.2378	0.01957	0.1889:0.1829:0.3464:0.2818	.	3876	Q8IVF2	AHNK2_HUMAN	M	3876	ENSP00000353114:V3876M	ENSP00000353114:V3876M	V	-	1	0	AHNAK2	104481207	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.244000	0.02902	-2.031000	0.00928	-1.174000	0.01732	GTG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105410162
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	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.chr17:7578395G>A	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.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	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	0				TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	p.H179Y	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)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578395
CYP2A6	1548	broad.mit.edu	37	19	41351999	41351999	+	Missense_Mutation	SNP	C	C	G	rs58261757		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:41351999C>G	ENST00000301141.5	-	6	855	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	279					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGTTCTTCTCCTCCTGCAGG	0.557																																						ENST00000301141.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(835-837)Gag>Cag		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						70.0	59.0	62.0					19																	41351999		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351999C>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.835G>C	19.37:g.41351999C>G	ENSP00000301141:p.Glu279Gln	False	False		Somatic	0				CTC-490E21.12_ENST00000601627.1_Intron	p.E279Q	NM_000762.5	NP_000753	WXS	Illumina HiSeq	Phase_I	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	855	-			279					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.835G>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	8.649	0.897840	0.17686	.	.	ENSG00000255974	ENST00000301141	T	0.01359	4.98	1.99	-2.41	0.06562	.	0.182114	0.45867	N	0.000324	T	0.00906	0.0030	N	0.17278	0.47	0.25078	N	0.990946	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.44267	-0.9339	10	0.66056	D	0.02	.	4.8188	0.13379	0.0:0.1219:0.3378:0.5403	rs58261757	279;279	Q13120;P11509	.;CP2A6_HUMAN	Q	279	ENSP00000301141:E279Q	ENSP00000301141:E279Q	E	-	1	0	CYP2A6	46043839	0.065000	0.20965	0.730000	0.30809	0.726000	0.41606	0.137000	0.15995	-0.649000	0.05430	-0.552000	0.04208	GAG		0.557	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	0	NM_000762		19:41351999
KRT78	196374	broad.mit.edu	37	12	53242653	53242653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53242653C>T	ENST00000304620.4	-	1	125	c.62G>A	c.(61-63)cGc>cAc	p.R21H	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	21	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCCCTTGAGCGAGCAGAACA	0.647																																						ENST00000304620.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(61-63)cGc>cAc		keratin 78							17.0	20.0	19.0					12																	53242653		2203	4299	6502	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242653C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.62G>A	12.37:g.53242653C>T	ENSP00000306261:p.Arg21His	True	False		Somatic	0					p.R21H	NM_173352.2	NP_775487.2	WXS	Illumina HiSeq	Phase_I	Q8N1N4	K2C78_HUMAN			1	125	-			21			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.62G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799620	0.31869	.	.	ENSG00000170423	ENST00000304620	T	0.75154	-0.91	5.14	-1.84	0.07809	.	.	.	.	.	T	0.64103	0.2568	M	0.69358	2.11	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.53669	-0.8406	9	0.46703	T	0.11	.	1.0871	0.01655	0.1385:0.3492:0.2054:0.3069	.	21	Q8N1N4	K2C78_HUMAN	H	21	ENSP00000306261:R21H	ENSP00000306261:R21H	R	-	2	0	KRT78	51528920	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.799000	0.04560	-0.602000	0.05775	0.485000	0.47835	CGC		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	0	NM_173352		12:53242653
FRY	10129	broad.mit.edu	37	13	32850630	32850630	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:32850630C>T	ENST00000380250.3	+	57	8812	c.8316C>T	c.(8314-8316)ctC>ctT	p.L2772L	FRY_ENST00000542859.1_Silent_p.L142L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2772						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGGACAAGCTCAAGTTCAGTG	0.393																																						ENST00000380250.3		NA																	0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8314-8316)ctC>ctT		furry homolog (Drosophila)							179.0	159.0	165.0					13																	32850630		1881	4114	5995	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32850630C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8316C>T	13.37:g.32850630C>T		False	False		Somatic	0				FRY_ENST00000542859.1_Silent_p.L142L	p.L2772L	NM_023037.2	NP_075463.2	WXS	Illumina HiSeq	Phase_I	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	57	8812	+		Lung SC(185;0.0271)	2772					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8316C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076814	0.20227	.	.	ENSG00000073910	ENST00000380235	.	.	.	5.6	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.135	0.42701	0.2105:0.4488:0.3407:0.0	.	.	.	.	X	400	.	ENSP00000369567:Q400X	Q	+	1	0	FRY	31748630	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.111000	0.31159	1.343000	0.45638	0.555000	0.69702	CAA		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	0	NM_023037		13:32850630
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A	rs372236521	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0					ENST00000369144.3		NA																	0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3034-3036)gCg>gTg		eukaryotic translation initiation factor 3, subunit A		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	297.0	222.0	247.0		3035	0.5	0.0	10		247	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1012/1383	120801997	2,13004	2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801997G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3035C>T	10.37:g.120801997G>A	ENSP00000358140:p.Ala1012Val	False	False		Somatic	0				EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	p.A1012V	NM_003750.2	NP_003741.1	WXS	Illumina HiSeq	Phase_I	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3162	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1012			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3035C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717526	0.03182	4.54E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24151	1.87;1.87	5.91	0.478	0.16789	.	1.821580	0.04002	N	0.296629	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.21484	-1.0244	10	0.30078	T	0.28	0.1809	5.8168	0.18497	0.2967:0.3625:0.3408:0.0	.	978;1012	F5H335;Q14152	.;EIF3A_HUMAN	V	1012;978	ENSP00000358140:A1012V;ENSP00000438178:A978V	ENSP00000358140:A1012V	A	-	2	0	EIF3A	120791987	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	0.258000	0.18387	-0.167000	0.10871	-0.137000	0.14449	GCG		0.572	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	0	NM_003750		10:120801997
CCDC105	126402	broad.mit.edu	37	19	15121740	15121740	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:15121740C>T	ENST00000292574.3	+	1	185	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	35						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGCACATTCTGACCGATCG	0.706																																						ENST00000292574.3		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(103-105)Ctg>Ttg		coiled-coil domain containing 105							14.0	14.0	14.0					19																	15121740		2170	4269	6439	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121740C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.103C>T	19.37:g.15121740C>T		False	False		Somatic	0					p.L35L	NM_173482.2	NP_775753.2	WXS	Illumina HiSeq	Phase_I	Q8IYK2	CC105_HUMAN			1	185	+			35					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.103C>T	CCDS12322.1																																																																																				0.706	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	0	NM_173482		19:15121740
ZNF606	80095	broad.mit.edu	37	19	58491598	58491598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:58491598A>C	ENST00000341164.4	-	7	1070	c.450T>G	c.(448-450)atT>atG	p.I150M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTTCCTCAAAAATGCTCTGTG	0.383																																						ENST00000341164.4		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(448-450)atT>atG		zinc finger protein 606							123.0	111.0	115.0					19																	58491598		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491598A>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.450T>G	19.37:g.58491598A>C	ENSP00000343617:p.Ile150Met	True	False		Somatic	0				ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	p.I150M	NM_025027.3	NP_079303.2	WXS	Illumina HiSeq	Phase_I	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1070	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	150					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.450T>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357244	0.24598	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.32023	1.47;2.78;1.47	4.88	2.73	0.32206	.	0.165679	0.28577	N	0.014847	T	0.19886	0.0478	L	0.38175	1.15	0.19775	N	0.999955	P	0.36438	0.553	B	0.30029	0.11	T	0.09707	-1.0662	10	0.52906	T	0.07	.	8.1914	0.31370	0.4706:0.0:0.0:0.5294	.	150	Q8WXB4	ZN606_HUMAN	M	150;60;150	ENSP00000343617:I150M;ENSP00000445624:I60M;ENSP00000446972:I150M	ENSP00000343617:I150M	I	-	3	3	ZNF606	63183410	.	.	0.991000	0.47740	0.994000	0.84299	.	.	0.301000	0.22738	0.533000	0.62120	ATT		0.383	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	0	NM_025027		19:58491598
EVC	2121	broad.mit.edu	37	4	5755572	5755572	+	Missense_Mutation	SNP	C	C	T	rs146028983		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:5755572C>T	ENST00000264956.6	+	10	1560	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	EVC_ENST00000509451.1_Missense_Mutation_p.T459M|EVC_ENST00000382674.2_Missense_Mutation_p.T459M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	459					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGAGGGAACGGCAAAACTC	0.567																																						ENST00000382674.2		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1375-1377)aCg>aTg		Ellis van Creveld syndrome		C	MET/THR	0,4406		0,0,2203	100.0	94.0	96.0		1376	-4.5	0.0	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	EVC	NM_153717.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	459/993	5755572	1,13005	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755572C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1376C>T	4.37:g.5755572C>T	ENSP00000264956:p.Thr459Met	False	False		Somatic	0				EVC_ENST00000509451.1_Missense_Mutation_p.T459M|EVC_ENST00000264956.6_Missense_Mutation_p.T459M	p.T459M			WXS	Illumina HiSeq	Phase_I	P57679	EVC_HUMAN			10	1560	+		Myeloproliferative disorder(84;0.117)	459						Missense_Mutation	SNP	ENST00000264956.6	37	c.1376C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367170	0.41902	0.0	1.16E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.50813	0.73;0.73;0.79	5.04	-4.46	0.03536	.	1.022650	0.07791	N	0.955013	T	0.24967	0.0606	N	0.12182	0.205	0.09310	N	0.999999	B	0.18310	0.027	B	0.11329	0.006	T	0.19418	-1.0306	10	0.36615	T	0.2	.	7.4723	0.27355	0.1314:0.1965:0.0:0.6721	.	459	P57679	EVC_HUMAN	M	459	ENSP00000264956:T459M;ENSP00000372120:T459M;ENSP00000426774:T459M	ENSP00000264956:T459M	T	+	2	0	EVC	5806473	0.000000	0.05858	0.000000	0.03702	0.620000	0.37586	-2.519000	0.00952	-0.827000	0.04278	0.561000	0.74099	ACG		0.567	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1	0			4:5755572
FADS3	3995	broad.mit.edu	37	11	61645989	61645989	+	Missense_Mutation	SNP	C	C	T	rs144099007		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61645989C>T	ENST00000278829.2	-	5	894	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	FADS3_ENST00000540820.1_Missense_Mutation_p.V248I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I|FADS3_ENST00000525588.1_Missense_Mutation_p.V220I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	248					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCACCTCGACGGATGACTCC	0.647																																						ENST00000540820.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(742-744)Gtc>Atc		fatty acid desaturase 3		C	ILE/VAL	0,4404		0,0,2202	94.0	91.0	92.0		742	0.5	0.0	11	dbSNP_134	92	1,8597		0,1,4298	no	missense	FADS3	NM_021727.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	248/446	61645989	1,13001	2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61645989C>T		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.742G>A	11.37:g.61645989C>T	ENSP00000278829:p.Val248Ile	False	False		Somatic	0				FADS3_ENST00000278829.2_Missense_Mutation_p.V248I|FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I	p.V248I			WXS	Illumina HiSeq	Phase_I	Q9Y5Q0	FADS3_HUMAN			5	814	-			248					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.742G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872167	0.33069	0.0	1.16E-4	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.51	0.501	0.16925	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.52322	0.1727	L	0.47190	1.495	0.21579	N	0.99964	B;B	0.16166	0.004;0.016	B;B	0.23275	0.027;0.045	T	0.42865	-0.9426	9	0.36615	T	0.2	-10.6178	8.9265	0.35643	0.0:0.684:0.0:0.316	.	124;248	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	124;248;248;220;124;124	ENSP00000431533:V124I;ENSP00000278829:V248I;ENSP00000439308:V248I;ENSP00000432206:V220I;ENSP00000436890:V124I;ENSP00000434551:V124I	ENSP00000278829:V248I	V	-	1	0	FADS3	61402565	0.001000	0.12720	0.000000	0.03702	0.112000	0.19704	0.149000	0.16243	-0.099000	0.12263	-1.036000	0.02392	GTC		0.647	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1	0			11:61645989
CBLB	868	broad.mit.edu	37	3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A	rs372086643		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000394027.3_Missense_Mutation_p.R662W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000403724.1_Missense_Mutation_p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGTTTCCGCATAAGCACT	0.473			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1918-1920)Cgg>Tgg		Cbl proto-oncogene B, E3 ubiquitin protein ligase		G	TRP/ARG	0,4406		0,0,2203	135.0	137.0	136.0		1918	-2.1	0.3	3		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	640/983	105420979	1,13005	2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105420979G>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1918C>T	3.37:g.105420979G>A	ENSP00000264122:p.Arg640Trp	False	False		Somatic	0				CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	p.R640W	NM_170662.3	NP_733762.2	WXS	Illumina HiSeq	Phase_I	Q13191	CBLB_HUMAN			12	2239	-			640			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1918C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828909	0.50845	0.0	1.16E-4	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.84660	-1.29;-1.85;-1.85;-1.88;-1.88	5.73	-2.08	0.07254	.	0.419665	0.25076	N	0.033327	D	0.85296	0.5664	L	0.59436	1.845	0.47862	D	0.999533	P;D;D	0.60160	0.946;0.987;0.978	B;P;P	0.49887	0.421;0.625;0.619	D	0.86495	0.1800	10	0.87932	D	0	-1.9622	17.5349	0.87827	0.0:0.0:0.2863:0.7137	.	662;640;640	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	23;640;662;640;640	ENSP00000377598:R23W;ENSP00000264122:R640W;ENSP00000377595:R662W;ENSP00000384816:R640W;ENSP00000384938:R640W	ENSP00000264122:R640W	R	-	1	2	CBLB	106903669	0.389000	0.25205	0.341000	0.25589	0.775000	0.43874	-0.031000	0.12287	-0.213000	0.10094	-0.196000	0.12772	CGG		0.473	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	0	NM_170662		3:105420979
EID2B	126272	broad.mit.edu	37	19	40023035	40023035	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40023035G>A	ENST00000326282.4	-	1	459	c.408C>T	c.(406-408)ccC>ccT	p.P136P	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCATCTGCGGGGGATCCGCGT	0.597																																						ENST00000326282.4		NA																	0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(406-408)ccC>ccT		EP300 interacting inhibitor of differentiation 2B							55.0	49.0	51.0					19																	40023035		2203	4300	6503	SO:0001819	synonymous_variant	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023035G>A	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.408C>T	19.37:g.40023035G>A		True	False		Somatic	0				EID2B_ENST00000601837.1_Intron	p.P136P	NM_152361.1	NP_689574.1	WXS	Illumina HiSeq	Phase_I	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	459	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		136						Silent	SNP	ENST00000326282.4	37	c.408C>T	CCDS12539.1																																																																																				0.597	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	0	NM_152361		19:40023035
SPEF2	79925	broad.mit.edu	37	5	35771762	35771762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:35771762C>A	ENST00000356031.3	+	27	4007	c.3853C>A	c.(3853-3855)Cca>Aca	p.P1285T	SPEF2_ENST00000440995.2_Missense_Mutation_p.P1280T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1285					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAAACCAGCCAGCAGACCC	0.383																																						ENST00000440995.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3838-3840)Cca>Aca		sperm flagellar 2							38.0	39.0	38.0					5																	35771762		1801	4074	5875	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771762C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3853C>A	5.37:g.35771762C>A	ENSP00000348314:p.Pro1285Thr	True	False		Somatic	0				CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1285T	p.P1280T			WXS	Illumina HiSeq	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3838	+	all_lung(31;7.56e-05)		1285					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3838C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150203	0.21371	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05925	3.4;3.37	5.68	0.75	0.18387	.	0.878841	0.10350	N	0.685256	T	0.06781	0.0173	L	0.50333	1.59	0.09310	N	1	B;B	0.16396	0.017;0.005	B;B	0.12156	0.007;0.002	T	0.38802	-0.9644	10	0.33141	T	0.24	.	6.8626	0.24076	0.2918:0.5705:0.0:0.1377	.	1280;1285	Q9C093-2;Q9C093	.;SPEF2_HUMAN	T	1285;1280	ENSP00000348314:P1285T;ENSP00000412125:P1280T	ENSP00000348314:P1285T	P	+	1	0	SPEF2	35807519	0.000000	0.05858	0.025000	0.17156	0.998000	0.95712	0.441000	0.21611	-0.073000	0.12842	0.591000	0.81541	CCA		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	0	NM_144722		5:35771762
ZNF438	220929	broad.mit.edu	37	10	31137813	31137813	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:31137813G>A	ENST00000361310.3	-	6	1850	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000452305.1_Silent_p.H497H|ZNF438_ENST00000442986.1_Silent_p.H507H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	507					negative regulation of transcription, DNA-templated (GO:0045892)|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(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CGTGACATCTGTGCCAAGGCT	0.483																																						ENST00000452305.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1489-1491)caC>caT		zinc finger protein 438							183.0	183.0	183.0					10																	31137813		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137813G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1521C>T	10.37:g.31137813G>A		False	False		Somatic	0				ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000361310.3_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000436087.2_Silent_p.H507H	p.H497H	NM_001143770.1	NP_001137242.1	WXS	Illumina HiSeq	Phase_I	Q7Z4V0	ZN438_HUMAN			8	2054	-		Prostate(175;0.0587)	507					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1491C>T	CCDS7168.1																																																																																				0.483	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	0	NM_182755		10:31137813
KLRC3	3823	broad.mit.edu	37	12	10568367	10568367	+	Missense_Mutation	SNP	C	C	T	rs370768044		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:10568367C>T	ENST00000396439.2	-	6	658	c.614G>A	c.(613-615)cGt>cAt	p.R205H	KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	205	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACAGTTACGTTCAGCATG	0.368																																						ENST00000396439.2		NA																	0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(613-615)cGt>cAt		killer cell lectin-like receptor subfamily C, member 3		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121.0	101.0	108.0		614,614	-5.0	0.0	12		108	0,8600		0,0,4300	no	missense,missense	KLRC3	NM_002261.2,NM_007333.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	205/241,205/258	10568367	1,13005	2203	4300	6503	SO:0001583	missense	3823							g.chr12:10568367C>T	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.614G>A	12.37:g.10568367C>T	ENSP00000379716:p.Arg205His	False	False		Somatic	0				KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H	p.R205H	NM_002261.2	NP_002252.2	WXS	Illumina HiSeq	Phase_I					6	658	-			NA					Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.614G>A	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.260349	0.00262	2.27E-4	0.0	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	2.48	-4.97	0.03029	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	4.596900	0.00447	N	0.000091	T	0.02494	0.0076	N	0.02876	-0.465	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.40059	-0.9583	10	0.08381	T	0.77	.	6.9114	0.24336	0.1555:0.6313:0.0:0.2131	.	205;205;205	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	H	205	ENSP00000437563:R205H;ENSP00000379716:R205H;ENSP00000371329:R205H;ENSP00000371328:R205H	ENSP00000371328:R205H	R	-	2	0	KLRC3;RP11-277P12.6	10459634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.576000	0.00910	-2.066000	0.00886	-1.486000	0.00981	CGT		0.368	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	0	NM_002261		12:10568367
GLO1	2739	broad.mit.edu	37	6	38650584	38650584	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:38650584C>T	ENST00000373365.4	-	4	462	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	126					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	GCAAACTTACCGAATCCTCGA	0.338																																						ENST00000373365.4		NA																	0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(376-378)Ggt>Agt		glyoxalase I	Glutathione(DB00143)						131.0	111.0	118.0					6																	38650584		2203	4300	6503	SO:0001630	splice_region_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38650584C>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.376+1G>A	6.37:g.38650584C>T		False	False		Somatic	0				GLO1_ENST00000470973.1_5'UTR	p.G126S	NM_006708.2	NP_006699.2	WXS	Illumina HiSeq	Phase_I	Q04760	LGUL_HUMAN			4	462	-			126					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Splice_Site	SNP	ENST00000373365.4	37	c.376G>A	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606204	0.87157	.	.	ENSG00000124767	ENST00000373365	T	0.69806	-0.43	5.71	5.71	0.89125	Glyoxalase/fosfomycin resistance/dioxygenase (1);Glyoxalase I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88482	0.3069	9	.	.	.	-26.2595	19.4781	0.94996	0.0:1.0:0.0:0.0	.	126	Q04760	LGUL_HUMAN	S	126	ENSP00000362463:G126S	.	G	-	1	0	GLO1	38758562	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	6.947000	0.75959	2.709000	0.92574	0.655000	0.94253	GGT		0.338	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	0	NM_006708	Missense_Mutation	6:38650584
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	147	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493																																						ENST00000602198.1		NA																	1	Substitution - coding silent(1)	p.G165G(1)	lung(1)	large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(493-495)ggG>ggT		testis expressed 101							327.0	268.0	288.0					19																	43922079		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922079G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.441G>T	19.37:g.43922079G>T		True	False		Somatic	0				TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000598265.1_Silent_p.G147G	p.G165G	NM_031451.4	NP_113639.4	WXS	Illumina HiSeq	Phase_I	Q9BY14	TX101_HUMAN			7	937	+		Prostate(69;0.0199)	147					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.495G>T	CCDS59393.1																																																																																				0.493	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	0	NM_031451		19:43922079
ZSCAN32	54925	broad.mit.edu	37	16	3434741	3434741	+	Missense_Mutation	SNP	G	G	A	rs375317994		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:3434741G>A	ENST00000396852.4	-	6	1259	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	318					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										CTCACTTTGCGGTAACTCAAC	0.542																																						ENST00000396852.4		NA																	0					NA						c.(952-954)Cgc>Tgc		zinc finger and SCAN domain containing 32		G	CYS/ARG	0,4394		0,0,2197	161.0	166.0	164.0		316	-6.5	0.0	16		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF434	NM_017810.2	180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	106/486	3434741	1,12993	2197	4300	6497	SO:0001583	missense	54925							g.chr16:3434741G>A	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.952C>T	16.37:g.3434741G>A	ENSP00000380061:p.Arg318Cys	False	False		Somatic	0				ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C	p.R318C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	WXS	Illumina HiSeq	Phase_I					6	1259	-			NA					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.952C>T		.	.	.	.	.	.	.	.	.	.	G	13.66	2.303535	0.40795	0.0	1.16E-4	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	3.24	-6.48	0.01896	.	1.571550	0.05281	N	0.519475	T	0.70334	0.3212	M	0.93507	3.425	0.09310	N	1	D;B;B	0.89917	1.0;0.004;0.002	D;B;B	0.70016	0.967;0.002;0.002	T	0.70124	-0.4958	10	0.87932	D	0	.	6.9851	0.24723	0.5756:0.1299:0.2946:0.0	.	106;106;318	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	C	106;318;318;29;106	ENSP00000302502:R106C;ENSP00000380061:R318C;ENSP00000380057:R318C;ENSP00000391787:R29C;ENSP00000407312:R106C	ENSP00000302502:R106C	R	-	1	0	ZNF434	3374742	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.558000	0.00923	-1.622000	0.01560	-1.613000	0.00800	CGC		0.542	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	0	NM_017810		16:3434741
VPS36	51028	broad.mit.edu	37	13	53013235	53013235	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:53013235C>G	ENST00000378060.4	-	3	261	c.234G>C	c.(232-234)aaG>aaC	p.K78N	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	78	GLUE N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGACTTACCTCTTCCCAATTC	0.408																																						ENST00000378060.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(232-234)aaG>aaC		vacuolar protein sorting 36 homolog (S. cerevisiae)							100.0	89.0	93.0					13																	53013235		2203	4300	6503	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53013235C>G	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.234G>C	13.37:g.53013235C>G	ENSP00000367299:p.Lys78Asn	False	False		Somatic	0				VPS36_ENST00000480923.1_5'UTR	p.K78N	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	WXS	Illumina HiSeq	Phase_I	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	3	261	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	78			GLUE N-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.234G>C	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.65	2.895224	0.52121	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.14	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.69823	2.125	0.80722	D	1	P	0.36392	0.551	B	0.42462	0.388	T	0.57590	-0.7785	9	0.49607	T	0.09	-0.4756	6.5062	0.22196	0.0:0.5215:0.0:0.4784	.	78	Q86VN1	VPS36_HUMAN	N	78	.	ENSP00000367299:K78N	K	-	3	2	VPS36	51911236	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.937000	0.28951	1.124000	0.41980	0.655000	0.94253	AAG		0.408	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3	0			13:53013235
ODF2	4957	broad.mit.edu	37	9	131246280	131246280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:131246280G>A	ENST00000434106.3	+	11	1414	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000393527.3_Missense_Mutation_p.A327T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	351					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.A327T(1)|p.A351T(1)|p.A395T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCATTTGCAGGCACAGCTTCG	0.532																																						ENST00000434106.3		NA																	3	Substitution - Missense(3)	p.A327T(1)|p.A351T(1)|p.A395T(1)	endometrium(3)	autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1051-1053)Gca>Aca		outer dense fiber of sperm tails 2							112.0	103.0	106.0					9																	131246280		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131246280G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1051G>A	9.37:g.131246280G>A	ENSP00000403453:p.Ala351Thr	False	False		Somatic	0				ODF2_ENST00000393527.3_Missense_Mutation_p.A327T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T	p.A351T	NM_153433.1	NP_702911.1	WXS	Illumina HiSeq	Phase_I	Q5BJF6	ODFP2_HUMAN			11	1414	+			NA					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1051G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263551	0.39995	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.91;1.0;1.0;1.0	5.8	4.72	0.59763	.	0.339216	0.32287	N	0.006313	T	0.24236	0.0587	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.001;0.002;0.001;0.004;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.003;0.003;0.004;0.004;0.004;0.002;0.004;0.004	T	0.06917	-1.0800	10	0.12430	T	0.62	-13.1102	14.4896	0.67642	0.084:0.0:0.916:0.0	.	332;346;270;285;351;395;346;332;351;327	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	T	351;395;346;351;327;270;332;332	ENSP00000377166:A351T;ENSP00000361901:A395T;ENSP00000342581:A346T;ENSP00000361882:A351T;ENSP00000307781:A327T;ENSP00000396687:A270T;ENSP00000437579:A332T;ENSP00000361877:A332T	ENSP00000307781:A327T	A	+	1	0	ODF2	130286101	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.174000	0.58256	2.749000	0.94314	0.655000	0.94253	GCA		0.532	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3	0			9:131246280
ARHGEF11	9826	broad.mit.edu	37	1	156939813	156939813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:156939813T>C	ENST00000361409.2	-	8	1347	c.605A>G	c.(604-606)gAc>gGc	p.D202G	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D242G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	202					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTGGTGTCACCATATAG	0.507																																						ENST00000368194.3		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(724-726)gAc>gGc		Rho guanine nucleotide exchange factor (GEF) 11							135.0	132.0	133.0					1																	156939813		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156939813T>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.605A>G	1.37:g.156939813T>C	ENSP00000354644:p.Asp202Gly	False	False		Somatic	0				ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D202G	p.D242G	NM_198236.2	NP_937879.1	WXS	Illumina HiSeq	Phase_I	O15085	ARHGB_HUMAN			9	1764	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		202					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.725A>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	9.766	1.171349	0.21621	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67698	-0.28;-0.25	5.4	4.22	0.49857	.	0.094778	0.45867	D	0.000338	T	0.33702	0.0872	N	0.24115	0.695	0.29101	N	0.881483	B;B	0.28055	0.062;0.199	B;B	0.30572	0.039;0.117	T	0.13150	-1.0520	10	0.38643	T	0.18	-18.8939	9.4168	0.38525	0.0:0.0:0.1782:0.8218	.	202;242	O15085;O15085-2	ARHGB_HUMAN;.	G	242;202	ENSP00000357177:D242G;ENSP00000354644:D202G	ENSP00000354644:D202G	D	-	2	0	ARHGEF11	155206437	0.077000	0.21312	0.732000	0.30844	0.156000	0.22039	1.293000	0.33353	2.277000	0.76020	0.528000	0.53228	GAC		0.507	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	0	NM_198236		1:156939813
UBA2	10054	broad.mit.edu	37	19	34922781	34922781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:34922781G>A	ENST00000246548.4	+	3	308	c.238G>A	c.(238-240)Gta>Ata	p.V80I	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	80					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAAGGAAAGTGTACTGCAGTT	0.368																																						ENST00000246548.4		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(238-240)Gta>Ata		ubiquitin-like modifier activating enzyme 2							203.0	196.0	199.0					19																	34922781		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34922781G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.238G>A	19.37:g.34922781G>A	ENSP00000246548:p.Val80Ile	False	False		Somatic	0				UBA2_ENST00000439527.2_5'UTR	p.V80I	NM_005499.2	NP_005490.1	WXS	Illumina HiSeq	Phase_I	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		3	308	+	Esophageal squamous(110;0.162)		80					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.238G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205694	0.58234	.	.	ENSG00000126261	ENST00000246548	T	0.26957	1.7	5.37	5.37	0.77165	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.115591	0.64402	D	0.000017	T	0.26629	0.0651	L	0.39566	1.225	0.80722	D	1	B	0.28128	0.201	B	0.31390	0.129	T	0.02909	-1.1095	10	0.38643	T	0.18	-18.4752	17.8794	0.88835	0.0:0.0:1.0:0.0	.	80	Q9UBT2	SAE2_HUMAN	I	80	ENSP00000246548:V80I	ENSP00000246548:V80I	V	+	1	0	UBA2	39614621	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	9.154000	0.94694	2.497000	0.84241	0.563000	0.77884	GTA		0.368	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	0	NM_005499		19:34922781
OPA1	4976	broad.mit.edu	37	3	193374974	193374974	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:193374974G>C	ENST00000392438.3	+	21	2353	c.2119G>C	c.(2119-2121)Gaa>Caa	p.E707Q	OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E762Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	707					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGTTAAGGAAGAAAGTATTAA	0.383																																						ENST00000361510.2		NA																	0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2284-2286)Gaa>Caa		optic atrophy 1 (autosomal dominant)							103.0	107.0	106.0					3																	193374974		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193374974G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2119G>C	3.37:g.193374974G>C	ENSP00000376233:p.Glu707Gln	True	False		Somatic	0				OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E707Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q	p.E762Q	NM_130837.2	NP_570850.2	WXS	Illumina HiSeq	Phase_I	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	23	2518	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		707					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2284G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192617	0.94960	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95622	-3.34;-3.35;-3.31;-3.33;-3.37;-3.76	5.78	5.78	0.91487	.	0.204266	0.53938	D	0.000049	D	0.97470	0.9172	M	0.69823	2.125	0.80722	D	1	P;D;D;D;P;P;D;D	0.76494	0.943;0.999;0.967;0.967;0.95;0.943;0.997;0.969	P;D;P;P;P;P;D;P	0.75484	0.695;0.915;0.81;0.81;0.638;0.695;0.986;0.759	D	0.97412	1.0003	10	0.54805	T	0.06	-23.6123	18.996	0.92813	0.0:0.0:1.0:0.0	.	671;707;689;708;725;744;726;762	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	744;707;762;726;725;708	ENSP00000354681:E744Q;ENSP00000376233:E707Q;ENSP00000355324:E762Q;ENSP00000355311:E726Q;ENSP00000354429:E725Q;ENSP00000354781:E708Q	ENSP00000354781:E708Q	E	+	1	0	OPA1	194857668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	GAA		0.383	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	0	NM_130837		3:193374974
PCDHA11	56138	broad.mit.edu	37	5	140248986	140248986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140248986G>A	ENST00000398640.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	100	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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCAGAGCGCGGAGTGCAG	0.562																																						ENST00000398640.2		NA																	0				breast(1)|lung(1)	2						c.(298-300)Gcg>Acg									143.0	159.0	154.0					5																	140248986		2203	4297	6500	SO:0001583	missense	0							g.chr5:140248986G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.298G>A	5.37:g.140248986G>A	ENSP00000381636:p.Ala100Thr	False	False		Somatic	0				PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A100T	NM_018902.3	NP_061725.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	298	+			NA					B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.298G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952502	0.18431	.	.	ENSG00000249158	ENST00000398640	T	0.38560	1.13	5.59	-3.03	0.05429	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28200	0.0696	L	0.35644	1.08	0.09310	N	1	B;B	0.33212	0.055;0.402	B;B	0.24541	0.009;0.054	T	0.07908	-1.0748	9	0.39692	T	0.17	.	12.5858	0.56416	0.0:0.4551:0.3038:0.2411	.	100;100	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	100	ENSP00000381636:A100T	ENSP00000381636:A100T	A	+	1	0	PCDHA11	140229170	0.000000	0.05858	0.072000	0.20136	0.403000	0.30841	-4.056000	0.00304	-0.519000	0.06444	-0.181000	0.13052	GCG		0.562	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	0	NM_018902		5:140248986
MB21D2	151963	broad.mit.edu	37	3	192517236	192517236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:192517236G>A	ENST00000392452.2	-	2	735	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGAGTGGCGCATGTCGAGT	0.507																																						ENST00000392452.2		NA																	0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(415-417)Cgc>Tgc		Mab-21 domain containing 2							92.0	81.0	85.0					3																	192517236		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517236G>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.415C>T	3.37:g.192517236G>A	ENSP00000376246:p.Arg139Cys	False	False		Somatic	0					p.R139C	NM_178496.3	NP_848591.2	WXS	Illumina HiSeq	Phase_I	Q8IYB1	M21D2_HUMAN			2	735	-			139					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.415C>T	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517547	0.44763	.	.	ENSG00000180611	ENST00000392452	T	0.08896	3.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	M	0.65975	2.015	0.80722	D	1	P	0.48294	0.908	B	0.39299	0.296	T	0.01330	-1.1383	10	0.59425	D	0.04	-20.9645	18.6977	0.91607	0.0:0.0:1.0:0.0	.	139	Q8IYB1	M21D2_HUMAN	C	139	ENSP00000376246:R139C	ENSP00000376246:R139C	R	-	1	0	MB21D2	193999930	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.110000	0.71535	2.652000	0.90054	0.655000	0.94253	CGC		0.507	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	0	NM_178496		3:192517236
PCDHA6	56142	broad.mit.edu	37	5	140209287	140209287	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140209287G>A	ENST00000529310.1	+	1	1725	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.682																																						ENST00000529310.1		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1609-1611)gcG>gcA									63.0	72.0	69.0					5																	140209287		2202	4297	6499	SO:0001819	synonymous_variant	0							g.chr5:140209287G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1611G>A	5.37:g.140209287G>A		True	False		Somatic	0				PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.A537A	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1725	+			NA					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1611G>A	CCDS47281.1																																																																																				0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	0	NM_018909		5:140209287
RDH5	5959	broad.mit.edu	37	12	56118220	56118220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:56118220C>A	ENST00000257895.5	+	5	1000	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	283					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.Y281fs*>29(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CGCTACAGCCCAGGTTGGGAT	0.632											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257895.5		NA																	1	Deletion - Frameshift(1)	p.Y281fs*>29(1)	breast(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12						c.(847-849)cCa>cAa		retinol dehydrogenase 5 (11-cis/9-cis)	NADH(DB00157)|Vitamin A(DB00162)						124.0	112.0	116.0					12																	56118220		2203	4300	6503	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56118220C>A	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.848C>A	12.37:g.56118220C>A	ENSP00000257895:p.Pro283Gln	True	False		Somatic	0	OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RP11-644F5.10_ENST00000550412.1_3'UTR	p.P283Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	WXS	Illumina HiSeq	Phase_I	Q92781	RDH1_HUMAN			5	1000	+			283					O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.848C>A	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036463	0.93630	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.87179	-2.22;-2.22;-2.22	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.121529	0.56097	D	0.000038	D	0.93171	0.7825	M	0.88450	2.955	0.45330	D	0.998329	D	0.58620	0.983	P	0.57960	0.83	D	0.94197	0.7446	10	0.62326	D	0.03	.	15.973	0.80034	0.0:1.0:0.0:0.0	.	283	Q92781	RDH1_HUMAN	Q	186;283;283	ENSP00000449927:P186Q;ENSP00000257895:P283Q;ENSP00000447128:P283Q	ENSP00000257895:P283Q	P	+	2	0	RDH5	54404487	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.045000	0.71020	2.449000	0.82847	0.561000	0.74099	CCA		0.632	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	0	NM_002905		12:56118220
DPY19L2	283417	broad.mit.edu	37	12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303																																						ENST00000324472.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(610-612)Tgc>Cgc		dpy-19-like 2 (C. elegans)							71.0	75.0	74.0					12																	64041124		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041124A>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.610T>C	12.37:g.64041124A>G	ENSP00000315988:p.Cys204Arg	False	False		Somatic	0				RP11-415I12.3_ENST00000509615.2_RNA	p.C204R	NM_173812.4	NP_776173.3	WXS	Illumina HiSeq	Phase_I	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	793	-			204					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.610T>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.080093	0.00035	.	.	ENSG00000177990	ENST00000324472	T	0.44482	0.92	2.35	1.43	0.22495	.	0.072625	0.53938	N	0.000041	T	0.23210	0.0561	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05241	-1.0897	8	.	.	.	.	5.3731	0.16150	0.1764:0.0:0.8236:0.0	.	204	Q6NUT2	D19L2_HUMAN	R	204	ENSP00000315988:C204R	.	C	-	1	0	DPY19L2	62327391	1.000000	0.71417	0.580000	0.28601	0.408000	0.30992	2.818000	0.48041	0.315000	0.23110	-1.392000	0.01152	TGC		0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	0	NM_173812		12:64041124
MYOT	9499	broad.mit.edu	37	5	137217667	137217667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:137217667G>A	ENST00000239926.4	+	6	1063	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000509812.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	230	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTAGAAGTAGATCAACCTCA	0.338																																						ENST00000239926.4		NA																	0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(688-690)aGa>aAa		myotilin							96.0	94.0	95.0					5																	137217667		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137217667G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.689G>A	5.37:g.137217667G>A	ENSP00000239926:p.Arg230Lys	False	False		Somatic	0				RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron	p.R230K	NM_006790.2	NP_006781	WXS	Illumina HiSeq	Phase_I	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1063	+			230			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.689G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362623	0.61403	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.31;-0.24;-0.33	5.61	5.61	0.85477	.	0.138225	0.50627	D	0.000114	T	0.55673	0.1935	N	0.24115	0.695	0.43183	D	0.995004	B	0.26483	0.15	B	0.19946	0.027	T	0.50668	-0.8801	10	0.36615	T	0.2	.	19.6288	0.95691	0.0:0.0:1.0:0.0	.	230	Q9UBF9	MYOTI_HUMAN	K	230;46;115	ENSP00000239926:R230K;ENSP00000391185:R46K;ENSP00000426281:R115K	ENSP00000239926:R230K	R	+	2	0	MYOT	137245566	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.845000	0.86875	2.644000	0.89710	0.591000	0.81541	AGA		0.338	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	0	NM_006790		5:137217667
TOMM22	56993	broad.mit.edu	37	22	39079827	39079827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:39079827C>T	ENST00000216034.4	+	4	441	c.410C>T	c.(409-411)tCa>tTa	p.S137L	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	137	C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GCTCTACCCTCACTTCCTGGA	0.433																																						ENST00000216034.4		NA																	0				large_intestine(1)|lung(2)	3						c.(409-411)tCa>tTa		translocase of outer mitochondrial membrane 22 homolog (yeast)							135.0	122.0	127.0					22																	39079827		2203	4300	6503	SO:0001583	missense	56993				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity	g.chr22:39079827C>T	AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.410C>T	22.37:g.39079827C>T	ENSP00000216034:p.Ser137Leu	False	False		Somatic	0					p.S137L	NM_020243.4	NP_064628.1	WXS	Illumina HiSeq	Phase_I	Q9NS69	TOM22_HUMAN			4	441	+	Melanoma(58;0.04)		137			C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).			Missense_Mutation	SNP	ENST00000216034.4	37	c.410C>T	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074761	0.20227	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.52	3.44	0.39384	.	0.176473	0.50627	D	0.000106	T	0.26846	0.0657	N	0.11560	0.145	0.32814	D	0.501897	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.30078	T	0.28	-0.006	10.5986	0.45354	0.0:0.8507:0.0:0.1493	.	137	Q9NS69	TOM22_HUMAN	L	137	.	ENSP00000216034:S137L	S	+	2	0	TOMM22	37409773	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.034000	0.76511	0.704000	0.31869	0.563000	0.77884	TCA		0.433	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1	0			22:39079827
KALRN	8997	broad.mit.edu	37	3	123953690	123953690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:123953690C>T	ENST00000240874.3	+	3	314	c.157C>T	c.(157-159)Cga>Tga	p.R53*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	53	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGTGATAAGCGAGGCGGACC	0.507																																						ENST00000360013.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(157-159)Cga>Tga		kalirin, RhoGEF kinase							38.0	32.0	34.0					3																	123953690		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123953690C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.157C>T	3.37:g.123953690C>T	ENSP00000240874:p.Arg53*	False	False		Somatic	0				KALRN_ENST00000240874.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*	p.R53*	NM_001024660.3	NP_001019831.2	WXS	Illumina HiSeq	Phase_I	O60229	KALRN_HUMAN			3	284	+			53			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	c.157C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	39	7.391663	0.98255	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3878	0.94565	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000240874:R53X	R	+	1	2	KALRN	125436380	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.304000	0.43655	2.573000	0.86826	0.651000	0.88453	CGA		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	0	NM_003947		3:123953690
RUNX3	864	broad.mit.edu	37	1	25229012	25229012	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:25229012C>T	ENST00000308873.6	-	5	857	c.849G>A	c.(847-849)acG>acA	p.T283T	RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T|RUNX3_ENST00000399916.1_Silent_p.T297T	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	283	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGAGGGCGTGGCGCTGT	0.701																																						ENST00000399916.1		NA																	0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(889-891)acG>acA		runt-related transcription factor 3							41.0	49.0	47.0					1																	25229012		2202	4298	6500	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229012C>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.849G>A	1.37:g.25229012C>T		True	False		Somatic	0				RUNX3_ENST00000308873.6_Silent_p.T283T|RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T	p.T297T	NM_001031680.2	NP_001026850.1	WXS	Illumina HiSeq	Phase_I	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1329	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	283	MP -> IS (in Ref. 2; CAA56093).		Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.891G>A	CCDS257.1																																																																																				0.701	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	0	NM_004350		1:25229012
DUS3L	56931	broad.mit.edu	37	19	5789413	5789413	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:5789413G>C	ENST00000309061.7	-	3	801	c.705C>G	c.(703-705)ttC>ttG	p.F235L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	235							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.F235F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCCCTGGCTGAACCGGCGCA	0.726																																						ENST00000309061.7		NA																	1	Substitution - coding silent(1)	p.F235F(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(703-705)ttC>ttG		dihydrouridine synthase 3-like (S. cerevisiae)							7.0	10.0	9.0					19																	5789413		2144	4183	6327	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789413G>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.705C>G	19.37:g.5789413G>C	ENSP00000311977:p.Phe235Leu	False	False		Somatic	0				DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.F235L	NM_020175.2	NP_064560.2	WXS	Illumina HiSeq	Phase_I	Q96G46	DUS3L_HUMAN			3	801	-			235					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.705C>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665736	0.03428	.	.	ENSG00000141994	ENST00000309061	T	0.14266	2.52	4.53	-9.07	0.00724	.	0.376802	0.24143	N	0.041152	T	0.01387	0.0045	N	0.00382	-1.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35773	-0.9775	10	0.02654	T	1	-9.2867	0.113	0.00058	0.2789:0.1848:0.2504:0.2858	.	235	Q96G46	DUS3L_HUMAN	L	235	ENSP00000311977:F235L	ENSP00000311977:F235L	F	-	3	2	DUS3L	5740413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.253000	0.00539	-2.940000	0.00297	-1.330000	0.01273	TTC		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	0	NM_020175		19:5789413
CNTNAP2	26047	broad.mit.edu	37	7	147869372	147869372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:147869372C>T	ENST00000361727.3	+	18	3328	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	938	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCTGCATCCGCTCCTTGAG	0.542										HNSCC(39;0.1)																												ENST00000361727.3		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2812-2814)Cgc>Tgc		contactin associated protein-like 2							68.0	67.0	67.0					7																	147869372		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869372C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2812C>T	7.37:g.147869372C>T	ENSP00000354778:p.Arg938Cys	False	False	HNSCC(39;0.1)	Somatic	0				CNTNAP2_ENST00000538075.1_5'UTR	p.R938C	NM_014141.5	NP_054860.1	WXS	Illumina HiSeq	Phase_I	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3328	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	938			Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2812C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536423	0.85812	.	.	ENSG00000174469	ENST00000361727	T	0.81163	-1.46	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95993	0.8987	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	938	Q9UHC6	CNTP2_HUMAN	C	938	ENSP00000354778:R938C	ENSP00000354778:R938C	R	+	1	0	CNTNAP2	147500305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.552000	0.86080	0.655000	0.94253	CGC		0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	0			7:147869372
PCDHGA4	56111	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T	rs375047889		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647																																						ENST00000571252.1		NA																	0				endometrium(1)|kidney(1)|lung(3)	5						c.(193-195)Cgc>Tgc				C	,,,CYS/ARG,,CYS/ARG	2,4384		0,2,2191	54.0	66.0	62.0		,,,193,,193	5.7	1.0	5		62	0,8600		0,0,4300	no	intron,intron,intron,missense,intron,missense	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,180,,180	0,2,6491	TT,TC,CC		0.0,0.0456,0.0154	,,,,,	,,,65/932,,65/821	140734960	2,12984	2193	4300	6493	SO:0001583	missense	0							g.chr5:140734960C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.193C>T	5.37:g.140734960C>T	ENSP00000458570:p.Arg65Cys	False	False		Somatic	0				PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R65C	NM_018917.2	NP_061740	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+			NA					Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.193C>T	CCDS58979.1																																																																																				0.647	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	0	NM_018917		5:140734960
NFASC	23114	broad.mit.edu	37	1	204970416	204970416	+	Splice_Site	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:204970416T>A	ENST00000401399.1	+	25	3335		c.e25+2		NFASC_ENST00000338515.6_Intron|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Splice_Site			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATCGACAGTAAGCATTGCT	0.577																																						ENST00000367172.4		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.e28+2		neurofascin							60.0	51.0	54.0					1																	204970416		1567	3582	5149	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204970416T>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3136+2T>A	1.37:g.204970416T>A		False	False		Somatic	0				NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000338586.6_Intron				WXS	Illumina HiSeq	Phase_I	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		28	3785	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		NA					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37		CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541581	0.85917	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399;ENST00000413225	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1035	0.72303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203237039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.978000	0.76147	2.054000	0.61138	0.533000	0.62120	.		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	0	NM_001005388	Intron	1:204970416
OBSCN	84033	broad.mit.edu	37	1	228547344	228547344	+	Intron	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228547344C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000284548.11_Missense_Mutation_p.R6251W|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W|OBSCN_ENST00000570156.2_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCAACGACGGTCCCCCAG	0.672																																						ENST00000284548.11		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18751-18753)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18.0	23.0	22.0					1																	228547344		2092	4221	6313	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547344C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2933C>T	1.37:g.228547344C>T		False	False		Somatic	0				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W	p.R6251W	NM_052843.3	NP_443075.3	WXS	Illumina HiSeq	Phase_I	Q5VST9	OBSCN_HUMAN			81	18825	+		Prostate(94;0.0405)	6252					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18751C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150761	0.57151	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.57907	0.37;0.52	4.56	3.63	0.41609	.	.	.	.	.	T	0.57814	0.2079	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	P	0.53861	0.736	T	0.50311	-0.8843	9	0.52906	T	0.07	.	12.8928	0.58082	0.3102:0.6898:0.0:0.0	.	6251	Q5VST9-3	.	W	6251;3370	ENSP00000284548:R6251W;ENSP00000355670:R3370W	ENSP00000284548:R6251W	R	+	1	2	OBSCN	226613967	0.355000	0.24921	0.001000	0.08648	0.015000	0.08874	1.160000	0.31761	1.119000	0.41883	0.556000	0.70494	CGG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_052843		1:228547344
PCNX	22990	broad.mit.edu	37	14	71455320	71455320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:71455320G>A	ENST00000304743.2	+	7	2794	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	783						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATTTCGCCGTGAACGCAGC	0.547																																						ENST00000304743.2		NA																	0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2347-2349)cGt>cAt		pecanex homolog (Drosophila)							138.0	116.0	124.0					14																	71455320		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455320G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2348G>A	14.37:g.71455320G>A	ENSP00000304192:p.Arg783His	False	False		Somatic	0				PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron	p.R783H	NM_014982.2	NP_055797.2	WXS	Illumina HiSeq	Phase_I	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	7	2794	+			783					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2348G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596374	0.86953	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.01059	5.39;5.39	5.01	5.01	0.66863	.	0.110787	0.64402	D	0.000008	T	0.05640	0.0148	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.47911	-0.9080	10	0.42905	T	0.14	.	18.8684	0.92303	0.0:0.0:1.0:0.0	.	783;783	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	H	783	ENSP00000304192:R783H;ENSP00000238570:R783H	ENSP00000238570:R783H	R	+	2	0	PCNX	70525073	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.203000	0.95033	2.767000	0.95098	0.591000	0.81541	CGT		0.547	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	0	NM_014982		14:71455320
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607																																						ENST00000400113.3		NA																	0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(862-864)Gtg>Atg		tubulin, alpha 3c							150.0	133.0	138.0					13																	19751261		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751261C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.862G>A	13.37:g.19751261C>T	ENSP00000382982:p.Val288Met	False	False		Somatic	0					p.V288M	NM_006001.2	NP_005992.1	WXS	Illumina HiSeq	Phase_I	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	966	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	288					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.862G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334912	0.24253	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.19	1.19	0.21007	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.41188	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	0.985000	0.45067	0.516000	0.34256	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	0	NM_006001		13:19751261
TRUB1	142940	broad.mit.edu	37	10	116698211	116698211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:116698211T>C	ENST00000298746.3	+	1	260	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	67					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAGCTGCTGTCCTTGAGCGG	0.662																																						ENST00000298746.3		NA																	0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(199-201)Tcc>Ccc		TruB pseudouridine (psi) synthase family member 1							13.0	13.0	13.0					10																	116698211		2198	4299	6497	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116698211T>C	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.199T>C	10.37:g.116698211T>C	ENSP00000298746:p.Ser67Pro	False	False		Somatic	0				TRUB1_ENST00000485065.1_3'UTR	p.S67P	NM_139169.4	NP_631908.1	WXS	Illumina HiSeq	Phase_I	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	1	260	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	67					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.199T>C	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863849	0.71949	.	.	ENSG00000165832	ENST00000298746	T	0.43688	0.94	6.17	6.17	0.99709	Pseudouridine synthase, catalytic domain (1);	0.053893	0.85682	D	0.000000	T	0.60843	0.2300	M	0.61703	1.905	0.54753	D	0.99998	D	0.71674	0.998	D	0.78314	0.991	T	0.58165	-0.7684	10	0.35671	T	0.21	-12.9692	14.3455	0.66658	0.0:0.0:0.0:1.0	.	67	Q8WWH5	TRUB1_HUMAN	P	67	ENSP00000298746:S67P	ENSP00000298746:S67P	S	+	1	0	TRUB1	116688201	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.299000	0.51826	2.371000	0.80710	0.533000	0.62120	TCC		0.662	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	0	NM_139169		10:116698211
CMYA5	202333	broad.mit.edu	37	5	79024983	79024983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:79024983G>A	ENST00000446378.2	+	2	426	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132					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)		AAAAAGGTTCGGAAAAGGACT	0.408																																						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.(394-396)cGg>cAg		cardiomyopathy associated 5							133.0	130.0	131.0					5																	79024983		1857	4097	5954	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79024983G>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.395G>A	5.37:g.79024983G>A	ENSP00000394770:p.Arg132Gln	False	False		Somatic	0					p.R132Q	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	426	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	132					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.395G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705355	0.48412	.	.	ENSG00000164309	ENST00000446378	T	0.57107	0.42	5.37	3.57	0.40892	.	0.470309	0.18113	N	0.151298	T	0.34687	0.0906	L	0.36672	1.1	0.23107	N	0.998284	P	0.52577	0.954	B	0.35899	0.213	T	0.32981	-0.9886	10	0.87932	D	0	.	5.7546	0.18166	0.222:0.143:0.6351:0.0	.	132	Q8N3K9	CMYA5_HUMAN	Q	132	ENSP00000394770:R132Q	ENSP00000394770:R132Q	R	+	2	0	CMYA5	79060739	0.991000	0.36638	0.690000	0.30148	0.895000	0.52256	2.194000	0.42668	0.620000	0.30215	-0.176000	0.13171	CGG		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79024983
KCNH2	3757	broad.mit.edu	37	7	150656796	150656796	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:150656796C>T	ENST00000262186.5	-	3	737	c.336G>A	c.(334-336)gtG>gtA	p.V112V	KCNH2_ENST00000430723.3_Silent_p.V112V|KCNH2_ENST00000392968.2_Silent_p.V16V	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCACGGGCACCACATCCACCA	0.582																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2		NA																	0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(46-48)gtG>gtA		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						157.0	117.0	130.0					7																	150656796		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656796C>T	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.336G>A	7.37:g.150656796C>T		False	False		Somatic	0				KCNH2_ENST00000262186.5_Silent_p.V112V|KCNH2_ENST00000430723.3_Silent_p.V112V	p.V16V			WXS	Illumina HiSeq	Phase_I	Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1168	-	all_neural(206;0.219)		112					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.48G>A	CCDS5910.1																																																																																				0.582	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	0	NM_000238		7:150656796
PYCRL	65263	broad.mit.edu	37	8	144688047	144688047	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:144688047C>T	ENST00000220966.6	-	6	713	c.684G>A	c.(682-684)acG>acA	p.T228T	RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.T79T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	216					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCATCTTGGCCGTCCCCTGAG	0.687																																						ENST00000220966.6		NA																	0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(682-684)acG>acA		pyrroline-5-carboxylate reductase-like							66.0	61.0	63.0					8																	144688047		2203	4299	6502	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144688047C>T	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.684G>A	8.37:g.144688047C>T		False	False		Somatic	0				PYCRL_ENST00000377579.3_Silent_p.T79T|PYCRL_ENST00000495276.1_5'UTR	p.T228T	NM_023078.3	NP_075566.2	WXS	Illumina HiSeq	Phase_I	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	713	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		216					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.684G>A	CCDS6407.2																																																																																				0.687	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	0	NM_023078		8:144688047
PDZRN4	29951	broad.mit.edu	37	12	41966623	41966623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:41966623A>C	ENST00000402685.2	+	10	2050	c.2042A>C	c.(2041-2043)cAg>cCg	p.Q681P	PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000298919.7_Missense_Mutation_p.Q421P	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	681							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTTGAGTGTCAGAATATCATG	0.453																																						ENST00000298919.7		NA																	0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1261-1263)cAg>cCg		PDZ domain containing ring finger 4							101.0	92.0	95.0					12																	41966623		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966623A>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2042A>C	12.37:g.41966623A>C	ENSP00000384197:p.Gln681Pro	False	False		Somatic	0				PDZRN4_ENST00000402685.2_Missense_Mutation_p.Q681P|PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P	p.Q421P			WXS	Illumina HiSeq	Phase_I	Q6ZMN7	PZRN4_HUMAN			10	1650	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	681			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1262A>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625622	0.46840	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72942	-0.7;3.77;3.77	4.49	4.49	0.54785	.	0.168540	0.41396	D	0.000898	T	0.80639	0.4661	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.985	D;P;P	0.83275	0.996;0.905;0.905	T	0.80645	-0.1290	10	0.42905	T	0.14	-37.9358	14.4999	0.67714	1.0:0.0:0.0:0.0	.	681;421;423	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	P	681;423;421	ENSP00000384197:Q681P;ENSP00000439990:Q423P;ENSP00000298919:Q421P	ENSP00000298919:Q421P	Q	+	2	0	PDZRN4	40252890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.146000	0.64845	1.987000	0.57996	0.528000	0.53228	CAG		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	0	NM_013377		12:41966623
DRD2	1813	broad.mit.edu	37	11	113295218	113295218	+	Silent	SNP	G	G	A	rs201114741	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:113295218G>A	ENST00000362072.3	-	2	500	c.156C>T	c.(154-156)aaC>aaT	p.N52N	DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.N52N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	52					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.N52N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACACCAGCACGTTGCCGAAGA	0.627													G|||	4	0.000798722	0.0	0.0	5008	,	,		21071	0.0		0.0	False		,,,				2504	0.0041					ENST00000362072.3		NA																	1	Substitution - coding silent(1)	p.N52N(1)	stomach(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(154-156)aaC>aaT		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	G	,	0,4402		0,0,2201	246.0	185.0	206.0		156,156	0.3	1.0	11		206	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	DRD2	NM_000795.3,NM_016574.3	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	52/444,52/415	113295218	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295218G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.156C>T	11.37:g.113295218G>A		False	False		Somatic	0				DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR	p.N52N	NM_000795.3	NP_000786.1	WXS	Illumina HiSeq	Phase_I	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	2	500	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	52					Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.156C>T	CCDS8361.1																																																																																				0.627	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	0	NM_000795		11:113295218
CAD	790	broad.mit.edu	37	2	27458194	27458194	+	Missense_Mutation	SNP	G	G	A	rs376049827		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:27458194G>A	ENST00000403525.1	+	23	3823	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	CAD_ENST00000264705.4_Missense_Mutation_p.G1290S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGCCGGCTTTGGGGA	0.567																																						ENST00000264705.4		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3868-3870)Ggc>Agc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	G	SER/GLY	0,4406		0,0,2203	84.0	88.0	87.0		3868	-0.6	0.3	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1290/2226	27458194	1,13005	2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27458194G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3679G>A	2.37:g.27458194G>A	ENSP00000384510:p.Gly1227Ser	False	False		Somatic	0				CAD_ENST00000403525.1_Missense_Mutation_p.G1227S	p.G1290S	NM_004341.3	NP_004332.2	WXS	Illumina HiSeq	Phase_I	P27708	PYR1_HUMAN			24	4030	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1290			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	G	15.20	2.762994	0.49574	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97352	-4.35;-4.35	5.0	-0.591	0.11675	ATP-grasp fold, subdomain 2 (1);	0.221794	0.56097	D	0.000036	D	0.92051	0.7481	L	0.31157	0.91	0.34968	D	0.752909	B;P	0.39094	0.055;0.659	B;B	0.25140	0.011;0.058	D	0.87432	0.2389	10	0.54805	T	0.06	-1.5323	17.2291	0.86979	0.0:0.0:0.1961:0.8039	.	1227;1290	F8VPD4;P27708	.;PYR1_HUMAN	S	1290;1227	ENSP00000264705:G1290S;ENSP00000384510:G1227S	ENSP00000264705:G1290S	G	+	1	0	CAD	27311698	0.987000	0.35691	0.342000	0.25602	0.942000	0.58702	2.015000	0.40961	-0.347000	0.08299	0.655000	0.94253	GGC		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1	0			2:27458194
LIFR	3977	broad.mit.edu	37	5	38493808	38493808	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:38493808G>A	ENST00000263409.4	-	14	2127	c.1965C>T	c.(1963-1965)tgC>tgT	p.C655C	LIFR_ENST00000453190.2_Silent_p.C655C|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	655	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGACGTAGTCGCAAGTCATGT	0.443			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1963-1965)tgC>tgT		leukemia inhibitory factor receptor alpha							173.0	152.0	159.0					5																	38493808		2203	4300	6503	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493808G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1965C>T	5.37:g.38493808G>A		False	False		Somatic	0				LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.C655C	p.C655C	NM_002310.5	NP_002301.1	WXS	Illumina HiSeq	Phase_I	P42702	LIFR_HUMAN			14	2127	-	all_lung(31;0.00021)		655			Fibronectin type-III 5.		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1965C>T	CCDS3927.1																																																																																				0.443	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	0	NM_002310		5:38493808
ASB4	51666	broad.mit.edu	37	7	95115286	95115286	+	Start_Codon_SNP	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:95115286G>A	ENST00000325885.5	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	1					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGAAGGATGGACGGCACCA	0.483																																						ENST00000325885.5		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1-3)atG>atA		ankyrin repeat and SOCS box containing 4							61.0	58.0	59.0					7																	95115286		2203	4300	6503	SO:0001582	initiator_codon_variant	51666				intracellular signal transduction			g.chr7:95115286G>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.3G>A	7.37:g.95115286G>A	ENSP00000321388:p.Met1Ile	False	False		Somatic	0				ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I	p.M1I	NM_016116.2	NP_057200.1	WXS	Illumina HiSeq	Phase_I	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		1	74	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		1					A4D1H6|O14586|Q14D68|Q8TBT2	Translation_Start_Site	SNP	ENST00000325885.5	37	c.3G>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250406	0.39797	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.47528	1.09;0.84	5.2	5.2	0.72013	.	0.308175	0.36972	N	0.002314	T	0.34077	0.0885	.	.	.	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.35051	-0.9804	9	0.87932	D	0	-2.8955	4.845	0.13509	0.1844:0.188:0.6276:0.0	.	1;1	Q9Y574;Q14D68	ASB4_HUMAN;.	I	1	ENSP00000321388:M1I;ENSP00000397070:M1I	ENSP00000321388:M1I	M	+	3	0	ASB4	94953222	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.083000	0.41615	2.882000	0.98803	0.655000	0.94253	ATG		0.483	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	0	NM_016116	Missense_Mutation	7:95115286
CSPP1	79848	broad.mit.edu	37	8	67998296	67998296	+	Missense_Mutation	SNP	A	A	T	rs370605967		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:67998296A>T	ENST00000262210.5	+	4	393	c.362A>T	c.(361-363)cAt>cTt	p.H121L	COPS5_ENST00000519963.1_5'Flank|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	121					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CGGAAGAAACATAAATTAAAA	0.313																																						ENST00000262210.5		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(361-363)cAt>cTt		centrosome and spindle pole associated protein 1							125.0	120.0	122.0					8																	67998296		1816	4064	5880	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67998296A>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.362A>T	8.37:g.67998296A>T	ENSP00000262210:p.His121Leu	False	False		Somatic	0				CSPP1_ENST00000412460.1_5'UTR	p.H121L	NM_024790.6	NP_079066.5	WXS	Illumina HiSeq	Phase_I	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		4	393	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	121					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.362A>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818020	0.32145	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.64618	-0.11;1.4	5.6	4.45	0.53987	.	0.267871	0.17979	U	0.155585	T	0.46889	0.1416	L	0.33485	1.01	0.80722	D	1	B;B;B	0.26258	0.019;0.145;0.145	B;B;B	0.22753	0.007;0.041;0.041	T	0.48103	-0.9064	10	0.46703	T	0.11	-18.2211	6.2761	0.20981	0.7839:0.0:0.0742:0.1419	.	121;121;121	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	L	85;121;121	ENSP00000429546:H85L;ENSP00000262210:H121L	ENSP00000262210:H121L	H	+	2	0	CSPP1	68160850	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	3.322000	0.52007	2.127000	0.65507	0.477000	0.44152	CAT		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	0	NM_024790		8:67998296
FCGBP	8857	broad.mit.edu	37	19	40411753	40411753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40411753G>A	ENST00000221347.6	-	7	3882	c.3875C>T	c.(3874-3876)gCc>gTc	p.A1292V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.632																																						ENST00000221347.6		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3874-3876)gCc>gTc		Fc fragment of IgG binding protein							52.0	51.0	51.0					19																	40411753		2202	4276	6478	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411753G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3875C>T	19.37:g.40411753G>A	ENSP00000221347:p.Ala1292Val	False	False		Somatic	0					p.A1292V	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3882	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1292			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3875C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	7.754	0.704011	0.15172	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	4.54	2.2	0.27929	von Willebrand factor, type D domain (3);	0.888041	0.09493	N	0.794685	T	0.38026	0.1025	N	0.20445	0.575	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.18272	-1.0342	10	0.38643	T	0.18	.	10.6724	0.45766	0.0:0.1341:0.7127:0.1532	.	1292	Q9Y6R7	FCGBP_HUMAN	V	1292	ENSP00000221347:A1292V	ENSP00000221347:A1292V	A	-	2	0	FCGBP	45103593	0.000000	0.05858	0.028000	0.17463	0.668000	0.39293	0.698000	0.25571	1.099000	0.41499	0.436000	0.28706	GCC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40411753
DLGAP5	9787	broad.mit.edu	37	14	55618581	55618581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:55618581C>T	ENST00000247191.2	-	17	2416	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	734					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATATCATCTGCTACTCCACCA	0.358																																						ENST00000247191.2		NA																	0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2200-2202)Gca>Aca		discs, large (Drosophila) homolog-associated protein 5							91.0	85.0	87.0					14																	55618581		2203	4299	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618581C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.2200G>A	14.37:g.55618581C>T	ENSP00000247191:p.Ala734Thr	False	False		Somatic	0				DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	p.A734T	NM_014750.4	NP_055565.3	WXS	Illumina HiSeq	Phase_I	Q15398	DLGP5_HUMAN			17	2416	-			734					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2200G>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335122	0.24253	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.31510	1.49;1.49	4.08	0.0321	0.14174	.	1.039760	0.07679	N	0.936753	T	0.18215	0.0437	L	0.32530	0.975	0.09310	N	1	P;P	0.45126	0.851;0.851	B;B	0.37550	0.253;0.253	T	0.17930	-1.0353	10	0.66056	D	0.02	.	1.1514	0.01786	0.1548:0.4127:0.1513:0.2812	.	734;734	A8MTM6;Q15398	.;DLGP5_HUMAN	T	734	ENSP00000378815:A734T;ENSP00000247191:A734T	ENSP00000247191:A734T	A	-	1	0	DLGAP5	54688334	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-1.321000	0.02697	-0.111000	0.12001	-0.857000	0.03018	GCA		0.358	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	0	NM_014750		14:55618581
SPG11	80208	broad.mit.edu	37	15	44888457	44888457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:44888457T>A	ENST00000261866.7	-	25	4274	c.4258A>T	c.(4258-4260)Agc>Tgc	p.S1420C	SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1420					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTTGATCGCTGTCCATTTTG	0.473																																						ENST00000261866.7		NA																	0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(4258-4260)Agc>Tgc		spastic paraplegia 11 (autosomal recessive)							115.0	116.0	116.0					15																	44888457		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44888457T>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4258A>T	15.37:g.44888457T>A	ENSP00000261866:p.Ser1420Cys	False	False		Somatic	0				SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C	p.S1420C	NM_025137.3	NP_079413.3	WXS	Illumina HiSeq	Phase_I	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	25	4274	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1420					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4258A>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270572	0.23221	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79033	-1.23;-1.23;-1.23	4.93	-0.24	0.13047	.	0.760869	0.12223	N	0.488178	T	0.74129	0.3676	L	0.47716	1.5	0.09310	N	1	B;D;D	0.55800	0.001;0.959;0.973	B;P;P	0.51999	0.001;0.687;0.513	T	0.63453	-0.6634	10	0.62326	D	0.03	.	4.7879	0.13234	0.1363:0.2567:0.0:0.607	.	1420;1420;1420	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	1420	ENSP00000261866:S1420C;ENSP00000445278:S1420C;ENSP00000396110:S1420C	ENSP00000261866:S1420C	S	-	1	0	SPG11	42675749	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.796000	0.26986	0.033000	0.15463	-0.333000	0.08304	AGC		0.473	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1	0			15:44888457
CCDC80	151887	broad.mit.edu	37	3	112324405	112324405	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:112324405C>T	ENST00000206423.3	-	8	3665	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A	CCDC80_ENST00000439685.2_Silent_p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	904					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACTGCTGAATCGCCATTTCCT	0.473																																						ENST00000206423.3		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(2710-2712)gcG>gcA		coiled-coil domain containing 80							124.0	102.0	109.0					3																	112324405		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112324405C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2712G>A	3.37:g.112324405C>T		False	False		Somatic	0				CCDC80_ENST00000439685.2_Silent_p.A904A	p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	WXS	Illumina HiSeq	Phase_I	Q76M96	CCD80_HUMAN			8	3665	-			904					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2712G>A	CCDS2968.1																																																																																				0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	0	NM_199511		3:112324405
PCDHB6	56130	broad.mit.edu	37	5	140532201	140532201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140532201G>A	ENST00000231136.1	+	1	2363	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	788					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTCTCGGAATAGCTTC	0.418																																						ENST00000231136.1		NA																	0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2362-2364)cGg>cAg									74.0	83.0	80.0					5																	140532201		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532201G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2363G>A	5.37:g.140532201G>A	ENSP00000231136:p.Arg788Gln	False	False		Somatic	0				PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	p.R788Q	NM_018939.2	NP_061762.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2363	+			788					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2363G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417419	0.25552	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.13196	2.61;2.61	4.71	-1.74	0.08056	.	.	.	.	.	T	0.10035	0.0246	L	0.39633	1.23	0.09310	N	1	B	0.22983	0.078	B	0.19148	0.024	T	0.30475	-0.9977	9	0.44086	T	0.13	.	6.4956	0.22140	0.2801:0.3536:0.3662:0.0	.	788	Q9Y5E3	PCDB6_HUMAN	Q	652;788	ENSP00000438466:R652Q;ENSP00000231136:R788Q	ENSP00000231136:R788Q	R	+	2	0	PCDHB6	140512385	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.899000	0.04101	-0.333000	0.08476	-1.660000	0.00751	CGG		0.418	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	0	NM_018939		5:140532201
FOXI1	2299	broad.mit.edu	37	5	169533031	169533031	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:169533031G>C	ENST00000306268.6	+	1	131	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FOXI1_ENST00000449804.2_Missense_Mutation_p.E24Q			Q12951	FOXI1_HUMAN	forkhead box I1	24	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCGGCCAGGAGCCCCCCGA	0.701									Pendred syndrome																													ENST00000449804.2		NA																	0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(70-72)Gag>Cag		forkhead box I1							24.0	27.0	26.0					5																	169533031		2202	4298	6500	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533031G>C	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.70G>C	5.37:g.169533031G>C	ENSP00000304286:p.Glu24Gln	False	False		Somatic	0				FOXI1_ENST00000306268.6_Missense_Mutation_p.E24Q	p.E24Q	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	WXS	Illumina HiSeq	Phase_I	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	115	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	24			Pro-rich.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.70G>C	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375475	0.82682	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95137	-3.57;-3.62	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.96	D	0.97246	0.9894	10	0.56958	D	0.05	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	24;24	Q12951-2;Q12951	.;FOXI1_HUMAN	Q	24	ENSP00000304286:E24Q;ENSP00000415483:E24Q	ENSP00000304286:E24Q	E	+	1	0	FOXI1	169465609	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.655000	0.98512	2.056000	0.61249	0.491000	0.48974	GAG		0.701	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	0	NM_144769, NM_012188		5:169533031
OAS2	4939	broad.mit.edu	37	12	113442853	113442853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:113442853G>A	ENST00000342315.4	+	7	1508	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	OAS2_ENST00000392583.2_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCACAAAATCGTCAAGGAAAT	0.507																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2		NA																	0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1294-1296)Gtc>Atc		2'-5'-oligoadenylate synthetase 2, 69/71kDa							82.0	76.0	78.0					12																	113442853		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442853G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1294G>A	12.37:g.113442853G>A	ENSP00000342278:p.Val432Ile	False	False		Somatic	0				OAS2_ENST00000342315.4_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA	p.V432I	NM_002535.2	NP_002526.2	WXS	Illumina HiSeq	Phase_I	P29728	OAS2_HUMAN			7	1501	+			432			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1294G>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	0.660	-0.806221	0.02819	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.07021	3.23;3.23	4.11	-6.58	0.01836	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	1.058010	0.07534	N	0.912661	T	0.01387	0.0045	N	0.00303	-1.675	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41538	-0.9503	10	0.02654	T	1	-21.0848	6.381	0.21533	0.2512:0.2993:0.4495:0.0	.	432;432	P29728;P29728-2	OAS2_HUMAN;.	I	432	ENSP00000342278:V432I;ENSP00000376362:V432I	ENSP00000342278:V432I	V	+	1	0	OAS2	111927236	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	0.038000	0.13862	-1.355000	0.02186	-0.312000	0.09012	GTC		0.507	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1	0			12:113442853
DNAH5	1767	broad.mit.edu	37	5	13766211	13766211	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGCAGTACGCAATCCATGA	0.517									Kartagener syndrome																													ENST00000265104.4		NA																	0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9973-9975)tgC>tgT		dynein, axonemal, heavy chain 5							113.0	109.0	110.0					5																	13766211		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766211G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9975C>T	5.37:g.13766211G>A		False	False		Somatic	0				DNAH5_ENST00000504001.3_Intron	p.C3325C	NM_001369.2	NP_001360.1	WXS	Illumina HiSeq	Phase_I	Q8TE73	DYH5_HUMAN			59	10079	-	Lung NSC(4;0.00476)		3325			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9975C>T	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	NM_001369		5:13766211
TMC5	79838	broad.mit.edu	37	16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	828					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R828W(1)|p.R582W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAAGCCTGGCGGGCCTCACA	0.567																																						ENST00000396229.2		NA																	2	Substitution - Missense(2)	p.R828W(1)|p.R582W(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2482-2484)Cgg>Tgg		transmembrane channel-like 5							73.0	67.0	69.0					16																	19498557		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19498557C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2482C>T	16.37:g.19498557C>T	ENSP00000379531:p.Arg828Trp	True	False		Somatic	0				TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W	p.R828W	NM_001105248.1	NP_001098718.1	WXS	Illumina HiSeq	Phase_I	Q6UXY8	TMC5_HUMAN			17	3231	+			828					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2482C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187204	0.78789	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.72	3.68	0.42216	.	0.284410	0.37304	N	0.002141	D	0.85643	0.5744	M	0.92555	3.32	0.53005	D	0.99996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999;0.999	D	0.85936	0.1455	10	0.87932	D	0	-21.0866	9.0624	0.36442	0.4067:0.4586:0.1346:0.0	.	776;511;582;582;828;828	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	W	776;828;828;828;582;511	ENSP00000441227:R776W;ENSP00000370822:R828W;ENSP00000379531:R828W;ENSP00000446274:R828W;ENSP00000219821:R582W	ENSP00000219821:R582W	R	+	1	2	TMC5	19406058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.706000	0.47135	0.699000	0.31761	0.655000	0.94253	CGG		0.567	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	0	NM_024780		16:19498557
PAPPA	5069	broad.mit.edu	37	9	119106961	119106961	+	Missense_Mutation	SNP	C	C	T	rs202058403		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:119106961C>T	ENST00000328252.3	+	14	4120	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1251	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTCCAGATACGGCGGGATGA	0.577																																						ENST00000328252.3		NA																	0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3751-3753)Cgg>Tgg		pregnancy-associated plasma protein A, pappalysin 1							74.0	62.0	66.0					9																	119106961		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119106961C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3751C>T	9.37:g.119106961C>T	ENSP00000330658:p.Arg1251Trp	False	False		Somatic	0				PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	p.R1251W	NM_002581.3	NP_002572.2	WXS	Illumina HiSeq	Phase_I	Q13219	PAPP1_HUMAN			14	4120	+			1251			Sushi 1.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3751C>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965637	0.74131	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.77098	-1.07;-1.07	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (2);	0.387664	0.31554	N	0.007450	T	0.64560	0.2609	N	0.14661	0.345	0.36488	D	0.868287	P;D	0.53151	0.927;0.958	B;B	0.39152	0.292;0.255	T	0.73639	-0.3919	10	0.46703	T	0.11	-8.643	19.4472	0.94852	0.0:1.0:0.0:0.0	.	289;1251	F5GZ19;Q13219	.;PAPP1_HUMAN	W	1251;289	ENSP00000330658:R1251W;ENSP00000441461:R289W	ENSP00000330658:R1251W	R	+	1	2	PAPPA	118146782	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.982000	0.76173	2.669000	0.90835	0.655000	0.94253	CGG		0.577	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	0	NM_002581		9:119106961
CDH22	64405	broad.mit.edu	37	20	44839199	44839199	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:44839199G>A	ENST00000372262.3	-	6	1433	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AAGTCCAGGCGCTGCGGGAGG	0.672																																						ENST00000372262.3		NA																	0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1033-1035)Cgc>Tgc		cadherin 22, type 2							36.0	34.0	35.0					20																	44839199		2202	4299	6501	SO:0001630	splice_region_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839199G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1033-1C>T	20.37:g.44839199G>A		False	False		Somatic	0				CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	p.R345C	NM_021248.1	NP_067071.1	WXS	Illumina HiSeq	Phase_I	Q9UJ99	CAD22_HUMAN			6	1433	-		Myeloproliferative disorder(115;0.0122)	345			Cadherin 3.		B9EGK7|O43205	Splice_Site	SNP	ENST00000372262.3	37	c.1033C>T	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603952	0.46423	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.54479	0.57;0.57	4.25	0.999	0.19862	Cadherin (5);Cadherin-like (1);	0.640659	0.15642	N	0.251802	T	0.42177	0.1191	L	0.59436	1.845	0.42300	D	0.992174	B	0.15473	0.013	B	0.10450	0.005	T	0.43491	-0.9388	10	0.87932	D	0	.	2.403	0.04406	0.1653:0.1518:0.5267:0.1562	.	345	Q9UJ99	CAD22_HUMAN	C	345	ENSP00000361336:R345C;ENSP00000437790:R345C	ENSP00000361336:R345C	R	-	1	0	CDH22	44272606	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	3.050000	0.49877	0.411000	0.25702	0.555000	0.69702	CGC		0.672	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	0	NM_021248	Missense_Mutation	20:44839199
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572																																						ENST00000005284.3		NA																	1	Substitution - Missense(1)	p.A138T(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(412-414)Gcg>Acg		calcium channel, voltage-dependent, gamma subunit 3							58.0	53.0	55.0					16																	24366270		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366270G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.412G>A	16.37:g.24366270G>A	ENSP00000005284:p.Ala138Thr	False	False		Somatic	0					p.A138T	NM_006539.3	NP_006530.1	WXS	Illumina HiSeq	Phase_I	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1614	+			138						Missense_Mutation	SNP	ENST00000005284.3	37	c.412G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763234	0.96906	.	.	ENSG00000006116	ENST00000005284	D	0.89617	-2.54	5.41	5.41	0.78517	.	0.112679	0.64402	D	0.000015	D	0.91633	0.7356	M	0.82132	2.575	0.80722	D	1	P	0.51653	0.947	P	0.47827	0.558	D	0.91099	0.4913	10	0.39692	T	0.17	-12.7101	18.9864	0.92771	0.0:0.0:1.0:0.0	.	138	O60359	CCG3_HUMAN	T	138	ENSP00000005284:A138T	ENSP00000005284:A138T	A	+	1	0	CACNG3	24273771	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.961000	0.93122	2.815000	0.96918	0.561000	0.74099	GCG		0.572	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	0	NM_006539		16:24366270
ATP11AUN	400165	broad.mit.edu	37	13	113333852	113333852	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:113333852G>A	ENST00000356049.1	+	2	917	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		53										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			ATGAGCCGCCGATCCGAGCTC	0.607																																						ENST00000356049.1		NA																	0				breast(1)|lung(2)|ovary(1)|prostate(1)	5						c.(157-159)ccG>ccA		chromosome 13 open reading frame 35							36.0	40.0	38.0					13																	113333852		2203	4300	6503	SO:0001819	synonymous_variant	400165							g.chr13:113333852G>A																												ENST00000356049.1:c.159G>A	13.37:g.113333852G>A		False	False		Somatic	0					p.P53P	NM_207440.1	NP_997323.1	WXS	Illumina HiSeq	Phase_I	Q6ZP68	CM035_HUMAN	all cancers(43;0.201)		2	917	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		53						Silent	SNP	ENST00000356049.1	37	c.159G>A	CCDS9526.1																																																																																				0.607	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2	0			13:113333852
URI1	8725	broad.mit.edu	37	19	30500170	30500170	+	Silent	SNP	C	C	T	rs183923805		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:30500170C>T	ENST00000542441.2	+	8	1242	c.945C>T	c.(943-945)gaC>gaT	p.D315D	URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000392271.1_Silent_p.D239D|URI1_ENST00000360605.4_Silent_p.D297D			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	315	Poly-Asp.			D -> E (in Ref. 3; BAF84859). {ECO:0000305}.	cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										acattgacgacgatgatggtg	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21154	0.0		0.0	False		,,,				2504	0.0					ENST00000392271.1		NA																	0					NA						c.(715-717)gaC>gaT		URI1, prefoldin-like chaperone							102.0	85.0	91.0					19																	30500170		2202	4300	6502	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500170C>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.945C>T	19.37:g.30500170C>T		False	False		Somatic	0				URI1_ENST00000360605.4_Silent_p.D297D|URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000542441.2_Silent_p.D315D	p.D239D	NM_003796.3	NP_003787.2	WXS	Illumina HiSeq	Phase_I	O94763	RMP_HUMAN			8	1242	+			315					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.717C>T	CCDS12420.1																																																																																				0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	0	NM_134447		19:30500170
MEN1	4221	broad.mit.edu	37	11	64572244	64572244	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:64572244G>A	ENST00000337652.1	-	10	1913	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000394374.2_Silent_p.A470A|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000377321.1_Silent_p.A430A|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377326.3_Silent_p.A465A|MAP4K2_ENST00000294066.2_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	470					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCTCGGCCTCGGCCGCCTCGG	0.726			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1		NA	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CD021425	MEN1	D		c.(1408-1410)gcC>gcT		multiple endocrine neoplasia I							21.0	24.0	23.0					11																	64572244		1817	3779	5596	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572244G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1410C>T	11.37:g.64572244G>A		True	False		Somatic	0				MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000394374.2_Silent_p.A470A	p.A470A	NM_130803.2	NP_570715	WXS	Illumina HiSeq	Phase_I	O00255	MEN1_HUMAN			10	1913	-			470					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1410C>T	CCDS8083.1																																																																																				0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1	0			11:64572244
GLI3	2737	broad.mit.edu	37	7	42017203	42017203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:42017203T>G	ENST00000395925.3	-	12	1850	c.1766A>C	c.(1765-1767)aAt>aCt	p.N589T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	589					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCAGAGGCATTTGAGAAAGC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1765-1767)aAt>aCt		GLI family zinc finger 3							239.0	196.0	211.0					7																	42017203		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42017203T>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1766A>C	7.37:g.42017203T>G	ENSP00000379258:p.Asn589Thr	True	False		Somatic	0	OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	GLI3_ENST00000479210.1_5'UTR	p.N589T	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			12	1850	-			589					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1766A>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124654	0.77436	.	.	ENSG00000106571	ENST00000395925	T	0.16073	2.37	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.15896	-1.0421	10	0.87932	D	0	.	16.1917	0.81992	0.0:0.0:0.0:1.0	.	589	P10071	GLI3_HUMAN	T	589	ENSP00000379258:N589T	ENSP00000379258:N589T	N	-	2	0	GLI3	41983728	1.000000	0.71417	0.453000	0.27007	0.623000	0.37688	7.991000	0.88244	2.216000	0.71823	0.533000	0.62120	AAT		0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42017203
MUC17	140453	broad.mit.edu	37	7	100685064	100685064	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:100685064G>C	ENST00000306151.4	+	3	10431	c.10367G>C	c.(10366-10368)gGa>gCa	p.G3456A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3456	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTAGTGAAGGAAGCACTCCA	0.512																																						ENST00000306151.4		NA																	0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10366-10368)gGa>gCa		mucin 17, cell surface associated							246.0	256.0	252.0					7																	100685064		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685064G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10367G>C	7.37:g.100685064G>C	ENSP00000302716:p.Gly3456Ala	True	False		Somatic	0					p.G3456A	NM_001040105.1	NP_001035194.1	WXS	Illumina HiSeq	Phase_I	Q685J3	MUC17_HUMAN			3	10431	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3456			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10367G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.640	0.486509	0.12641	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.29	-0.0886	0.13672	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.29822	-0.9999	9	0.05959	T	0.93	.	6.0054	0.19542	0.0:0.5593:0.4407:0.0	.	3456	Q685J3	MUC17_HUMAN	A	3456	ENSP00000302716:G3456A	ENSP00000302716:G3456A	G	+	2	0	MUC17	100471784	0.000000	0.05858	0.008000	0.14137	0.016000	0.09150	-3.212000	0.00555	0.661000	0.30985	0.186000	0.17326	GGA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	NM_001040105		7:100685064
PRSS38	339501	broad.mit.edu	37	1	228004950	228004950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228004950G>A	ENST00000366757.3	+	3	376	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	118	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTAGGCCTCGTAAACCTCAG	0.552																																						ENST00000366757.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(352-354)Gta>Ata		protease, serine, 38							141.0	115.0	124.0					1																	228004950		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228004950G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.352G>A	1.37:g.228004950G>A	ENSP00000355719:p.Val118Ile	False	False		Somatic	0					p.V118I	NM_183062.2	NP_898885.1	WXS	Illumina HiSeq	Phase_I	A1L453	PRS38_HUMAN			3	376	+			118			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.352G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010207	0.19277	.	.	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	4.23	-3.16	0.05217	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.107840	0.07072	N	0.835620	T	0.66197	0.2765	N	0.02181	-0.65	0.09310	N	1	P	0.44627	0.839	B	0.36719	0.231	T	0.62923	-0.6751	10	0.23302	T	0.38	.	5.8588	0.18734	0.5945:0.1533:0.2521:0.0	.	118	A1L453	PRS38_HUMAN	I	118	ENSP00000355719:V118I	ENSP00000355719:V118I	V	+	1	0	PRSS38	226071573	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	0.169000	0.16641	-0.633000	0.05545	0.655000	0.94253	GTA		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	0	NM_183062		1:228004950
TOP2B	7155	broad.mit.edu	37	3	25641006	25641006	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:25641006C>A	ENST00000264331.4	-	35	4629	c.4630G>T	c.(4630-4632)Gca>Tca	p.A1544S	TOP2B_ENST00000435706.2_Missense_Mutation_p.A1539S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S|TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1544					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTTTCTTTGCCCCTCGGCCT	0.383																																						ENST00000435706.2		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4615-4617)Gca>Tca		topoisomerase (DNA) II beta 180kDa							179.0	159.0	165.0					3																	25641006		1835	4092	5927	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25641006C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4630G>T	3.37:g.25641006C>A	ENSP00000264331:p.Ala1544Ser	True	False		Somatic	0				TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000264331.4_Missense_Mutation_p.A1544S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S	p.A1539S			WXS	Illumina HiSeq	Phase_I	Q02880	TOP2B_HUMAN			35	4816	-			1544					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4615G>T		.	.	.	.	.	.	.	.	.	.	C	18.53	3.644022	0.67244	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.47177	0.85;0.88;0.89;0.85	5.98	5.98	0.97165	DTHCT (1);	0.102593	0.64402	D	0.000002	T	0.35098	0.0920	N	0.08118	0	0.49389	D	0.999786	P;P	0.43231	0.801;0.763	P;B	0.46510	0.519;0.385	T	0.11941	-1.0567	10	0.05436	T	0.98	-16.4796	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1544;1539	Q02880;Q02880-2	TOP2B_HUMAN;.	S	396;1539;1544;396	ENSP00000446023:A396S;ENSP00000396704:A1539S;ENSP00000264331:A1544S;ENSP00000437352:A396S	ENSP00000264331:A1544S	A	-	1	0	TOP2B	25616010	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.563000	0.53784	2.847000	0.97988	0.591000	0.81541	GCA		0.383	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0			3:25641006
ARHGAP18	93663	broad.mit.edu	37	6	129920398	129920398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:129920398C>T	ENST00000368149.2	-	12	1764	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ATATTTTTCTCGGTCATAAGC	0.294																																						ENST00000368149.2		NA																	0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1675-1677)cGa>cAa		Rho GTPase activating protein 18							115.0	113.0	114.0					6																	129920398		2203	4299	6502	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129920398C>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1676G>A	6.37:g.129920398C>T	ENSP00000357131:p.Arg559Gln	False	False		Somatic	0					p.R559Q	NM_033515.2	NP_277050.2	WXS	Illumina HiSeq	Phase_I	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	12	1764	-			559						Missense_Mutation	SNP	ENST00000368149.2	37	c.1676G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259937	0.80246	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.37	5.37	0.77165	.	0.062436	0.64402	D	0.000008	T	0.63861	0.2547	M	0.79258	2.445	0.44547	D	0.997506	P;D	0.61080	0.722;0.989	B;P	0.47376	0.117;0.545	T	0.68096	-0.5499	8	.	.	.	.	19.1474	0.93473	0.0:1.0:0.0:0.0	.	559;559	A9UK01;Q8N392	.;RHG18_HUMAN	Q	514;559	.	.	R	-	2	0	ARHGAP18	129962091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.248000	0.65421	2.511000	0.84671	0.650000	0.86243	CGA		0.294	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	0	NM_033515		6:129920398
SMARCA2	6595	broad.mit.edu	37	9	2054681	2054681	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:2054681C>T	ENST00000382203.1	+	6	1340	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	377					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAAAGCAACCGTGGAACTAA	0.403																																						ENST00000382203.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1129-1131)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							103.0	107.0	106.0					9																	2054681		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054681C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1131C>T	9.37:g.2054681C>T		False	False		Somatic	0				SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T	p.T377T			WXS	Illumina HiSeq	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1340	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	377					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1131C>T	CCDS34977.1																																																																																				0.403	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	0	NM_003070		9:2054681
CYP1A2	1544	broad.mit.edu	37	15	75042757	75042757	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:75042757C>T	ENST00000343932.4	+	2	741	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	226					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.F226F(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CTCATGAGTTCGTGGAGACTG	0.572																																						ENST00000343932.4		NA																	2	Substitution - coding silent(2)	p.F226F(2)	upper_aerodigestive_tract(1)|endometrium(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(676-678)ttC>ttT		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						239.0	211.0	221.0					15																	75042757		2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042757C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.678C>T	15.37:g.75042757C>T		False	False		Somatic	0					p.F226F	NM_000761.3	NP_000752.2	WXS	Illumina HiSeq	Phase_I	P05177	CP1A2_HUMAN			2	741	+			226					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.678C>T	CCDS32293.1																																																																																				0.572	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	0	NM_000761		15:75042757
GDPGP1	390637	broad.mit.edu	37	15	90784172	90784172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:90784172C>A	ENST00000558017.1	+	4	452	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	11					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										AACGAAACTTCCTATTTGCTG	0.453																																						ENST00000558017.1		NA																	0					NA						c.(31-33)tCc>tAc		GDP-D-glucose phosphorylase 1							93.0	95.0	94.0					15																	90784172		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784172C>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.32C>A	15.37:g.90784172C>A	ENSP00000452793:p.Ser11Tyr	False	False		Somatic	0				GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	p.S11Y	NM_001013657.2	NP_001013679.2	WXS	Illumina HiSeq	Phase_I	Q6ZNW5	VTC2_HUMAN			4	452	+			11						Missense_Mutation	SNP	ENST00000558017.1	37	c.32C>A	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.310950	0.40895	.	.	ENSG00000183208	ENST00000329600	T	0.25912	1.77	5.22	4.3	0.51218	.	0.240656	0.27495	N	0.019109	T	0.27098	0.0664	M	0.63428	1.95	0.28415	N	0.917998	B	0.15141	0.012	B	0.18871	0.023	T	0.23833	-1.0177	10	0.87932	D	0	-6.4776	9.8228	0.40894	0.0:0.9068:0.0:0.0932	.	11	Q6ZNW5	VTC2_HUMAN	Y	11	ENSP00000368405:S11Y	ENSP00000368405:S11Y	S	+	2	0	C15orf58	88585176	0.556000	0.26538	0.920000	0.36463	0.327000	0.28475	0.968000	0.29357	1.419000	0.47118	0.563000	0.77884	TCC		0.453	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	0	NM_001013657		15:90784172
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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>gAt		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>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.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	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>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	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
CFLAR	8837	broad.mit.edu	37	2	201994665	201994665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:201994665G>A	ENST00000309955.3	+	2	592	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	26	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTTTTGTGCCGGGATGTTGCT	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000309955.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(76-78)cGg>cAg		CASP8 and FADD-like apoptosis regulator							207.0	199.0	201.0					2																	201994665		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994665G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.77G>A	2.37:g.201994665G>A	ENSP00000312455:p.Arg26Gln	True	False		Somatic	0				CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q	p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	WXS	Illumina HiSeq	Phase_I	O15519	CFLAR_HUMAN			2	592	+			NA			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.77G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755828	0.49362	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.7;0.83;0.82;3.58;4.0;0.86;3.7;0.83;3.58	5.86	4.05	0.47172	DEATH-like (2);Death effector (3);	0.487974	0.22753	N	0.056053	T	0.56543	0.1992	L	0.60957	1.885	0.40149	D	0.976923	P;D;D;D;P;P;B	0.76494	0.956;0.998;0.998;0.999;0.744;0.777;0.449	P;P;P;D;B;B;B	0.65874	0.67;0.9;0.842;0.939;0.249;0.23;0.274	T	0.53690	-0.8403	10	0.27082	T	0.32	-12.9446	6.6207	0.22802	0.146:0.0:0.7082:0.1458	.	26;26;26;26;26;26;26	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	Q	26	ENSP00000312455:R26Q;ENSP00000339335:R26Q;ENSP00000347757:R26Q;ENSP00000339326:R26Q;ENSP00000345807:R26Q;ENSP00000342809:R26Q;ENSP00000399420:R26Q;ENSP00000406775:R26Q;ENSP00000411535:R26Q	ENSP00000312455:R26Q	R	+	2	0	CFLAR	201702910	1.000000	0.71417	0.918000	0.36340	0.539000	0.34962	3.319000	0.51983	0.805000	0.34159	0.563000	0.77884	CGG		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	0	NM_003879		2:201994665
EPHB2	2048	broad.mit.edu	37	1	23239043	23239043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:23239043G>A	ENST00000400191.3	+	15	2821	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	935	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGAGAGCTTCGCCAATGCCGG	0.592																																						ENST00000400191.3		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2803-2805)Gcc>Acc		EPH receptor B2							135.0	133.0	133.0					1																	23239043		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23239043G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2803G>A	1.37:g.23239043G>A	ENSP00000383053:p.Ala935Thr	False	False		Somatic	0				EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T	p.A935T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	WXS	Illumina HiSeq	Phase_I	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	15	2821	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	935			SAM.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.2803G>A		.	.	.	.	.	.	.	.	.	.	G	3.400	-0.122403	0.06795	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.78	3.85	0.44370	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.066497	0.64402	N	0.000012	T	0.04227	0.0117	L	0.31664	0.95	0.80722	D	1	B;B;B;B	0.17852	0.006;0.024;0.013;0.006	B;B;B;B	0.21708	0.0;0.036;0.014;0.005	T	0.20571	-1.0271	10	0.02654	T	1	.	8.4227	0.32710	0.0846:0.1545:0.7609:0.0	.	877;935;953;936	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	877;935;935;936;930	ENSP00000363761:A935T;ENSP00000383053:A935T;ENSP00000363763:A936T;ENSP00000363758:A930T	ENSP00000363755:A877T	A	+	1	0	EPHB2	23111630	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	3.149000	0.50655	1.361000	0.45981	0.650000	0.86243	GCC		0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	0	NM_017449		1:23239043
TENM4	26011	broad.mit.edu	37	11	78380090	78380090	+	Missense_Mutation	SNP	C	C	T	rs201676053		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:78380090C>T	ENST00000278550.7	-	32	7762	c.7300G>A	c.(7300-7302)Gag>Aag	p.E2434K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2434					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTCCACAGCTCGTGGTCTGGG	0.517																																						ENST00000278550.7		NA																	0					NA						c.(7300-7302)Gag>Aag		teneurin transmembrane protein 4		C	LYS/GLU	1,4109		0,1,2054	113.0	112.0	113.0		7300	5.1	1.0	11		113	2,8366		0,2,4182	yes	missense	ODZ4	NM_001098816.2	56	0,3,6236	TT,TC,CC		0.0239,0.0243,0.024	benign	2434/2770	78380090	3,12475	2055	4184	6239	SO:0001583	missense	26011							g.chr11:78380090C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7300G>A	11.37:g.78380090C>T	ENSP00000278550:p.Glu2434Lys	False	False		Somatic	0					p.E2434K	NM_001098816.2	NP_001092286.2	WXS	Illumina HiSeq	Phase_I					32	7762	-			NA					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7300G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272619	0.59649	2.43E-4	2.39E-4	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89681	-2.55;0.91	5.14	5.14	0.70334	Rhs repeat-associated core (1);	0.158206	0.53938	D	0.000042	D	0.83257	0.5215	L	0.45581	1.43	0.54753	D	0.999985	P	0.36483	0.555	B	0.16289	0.015	T	0.82388	-0.0482	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2434	Q6N022	TEN4_HUMAN	K	2434;898	ENSP00000278550:E2434K;ENSP00000431711:E898K	.	E	-	1	0	ODZ4	78057738	0.976000	0.34144	0.988000	0.46212	0.972000	0.66771	3.189000	0.50965	2.677000	0.91161	0.655000	0.94253	GAG		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2	0			11:78380090
NME9	347736	broad.mit.edu	37	3	138022470	138022470	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:138022470G>A	ENST00000333911.3	-	10	834	c.807C>T	c.(805-807)taC>taT	p.Y269Y	NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000484930.1_Silent_p.Y206Y|NME9_ENST00000341790.5_Silent_p.Y206Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000383180.2_Silent_p.Y208Y			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	269	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.Y208Y(1)									TTTCTGTGCCGTACTGAGCTC	0.438																																						ENST00000383180.2		NA																	1	Substitution - coding silent(1)	p.Y208Y(1)	pancreas(1)		NA						c.(622-624)taC>taT		NME/NM23 family member 9							68.0	65.0	66.0					3																	138022470		2203	4300	6503	SO:0001819	synonymous_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138022470G>A	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.807C>T	3.37:g.138022470G>A		False	False		Somatic	0				NME9_ENST00000484930.1_Silent_p.Y206Y|NME9_ENST00000333911.3_Silent_p.Y269Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000341790.5_Silent_p.Y206Y	p.Y208Y	NM_178130.2	NP_835231.1	WXS	Illumina HiSeq	Phase_I	Q86XW9	TXND6_HUMAN			11	861	-			269			NDK.		Q7Z4A8|Q8N1V7	Silent	SNP	ENST00000333911.3	37	c.624C>T		.	.	.	.	.	.	.	.	.	.	G	10.32	1.318117	0.23994	.	.	ENSG00000181322	ENST00000474690	.	.	.	5.73	-10.1	0.00402	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-7.3005	17.1751	0.86839	0.7831:0.0:0.2169:0.0	.	.	.	.	M	148	.	.	T	-	2	0	TXNDC6	139505160	0.035000	0.19736	0.223000	0.23860	0.270000	0.26580	-1.453000	0.02383	-2.438000	0.00552	-0.954000	0.02651	ACG		0.438	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	0	NM_178130		3:138022470
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483																																						ENST00000315930.6		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(631-633)Gat>Aat		fibroblast growth factor 13							128.0	100.0	110.0					X																	137715118		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715118C>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.631G>A	X.37:g.137715118C>T	ENSP00000322390:p.Asp211Asn	False	False		Somatic	0				FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N	p.D211N	NM_004114.3	NP_004105.1	WXS	Illumina HiSeq	Phase_I	Q92913	FGF13_HUMAN			5	1292	-	Acute lymphoblastic leukemia(192;0.000127)		211					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.631G>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350265	0.61183	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198	T;T;T;T;T;D	0.81739	-0.21;-0.21;-0.21;-0.21;-0.21;-1.53	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.29936	0.114;0.262;0.182;0.23	B;B;B;B	0.20184	0.012;0.018;0.028;0.019	T	0.71126	-0.4683	10	0.44086	T	0.13	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	165;221;158;211	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	N	211;158;192;221;165;221	ENSP00000322390:D211N;ENSP00000303391:D158N;ENSP00000409276:D192N;ENSP00000359635:D221N;ENSP00000437903:D165N;ENSP00000396198:D221N	ENSP00000303391:D158N	D	-	1	0	FGF13	137542784	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	GAT		0.483	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	0	NM_004114		X:137715118
TUBB8	347688	broad.mit.edu	37	10	93797	93797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:93797C>T	ENST00000309812.4	-	4	597	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.V107M|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	179					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCTCCACCACGGTGTCCGAC	0.522																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2		NA																	0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(319-321)Gtg>Atg		tubulin, beta 8 class VIII																																				SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93797C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.535G>A	10.37:g.93797C>T	ENSP00000311042:p.Val179Met	False	False		Somatic	0				TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V179M	p.V107M			WXS	Illumina HiSeq	Phase_I	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	634	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	179					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.319G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71222	-0.55	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000086	D	0.85080	0.5615	H	0.96489	3.83	0.34080	D	0.659493	P;D	0.89917	0.478;1.0	B;D	0.69479	0.038;0.964	D	0.85106	0.0960	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	142;179	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	M	107;145;142;179	ENSP00000403895:V107M	ENSP00000272035:V145M	V	-	1	0	RP11-631M21.2	83797	0.998000	0.40836	0.272000	0.24630	0.274000	0.26718	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GTG		0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	0	NM_177987		10:93797
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:207640107G>A	ENST00000367058.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000367057.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408																																						ENST00000367057.3		NA																	1	Substitution - Nonsense(1)	p.G99*(1)	ovary(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(295-297)Gga>Aga		complement component (3d/Epstein Barr virus) receptor 2							96.0	94.0	95.0					1																	207640107		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640107G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.295G>A	1.37:g.207640107G>A	ENSP00000356025:p.Gly99Arg	False	False		Somatic	0				CR2_ENST00000367058.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R	p.G99R	NM_001006658.2	NP_001006659.1	WXS	Illumina HiSeq	Phase_I	P20023	CR2_HUMAN			2	484	+			99			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.295G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458973	0.63401	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.0	4.01	0.46588	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.82287	0.5004	M	0.91140	3.18	0.30549	N	0.765697	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77864	-0.2429	9	0.37606	T	0.19	.	7.4734	0.27361	0.117:0.0:0.883:0.0	.	99;99;99	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	99	ENSP00000356025:G99R;ENSP00000356024:G99R;ENSP00000356026:G99R;ENSP00000404222:G99R	ENSP00000356024:G99R	G	+	1	0	CR2	205706730	0.570000	0.26651	0.867000	0.34043	0.013000	0.08279	2.467000	0.45093	2.607000	0.88179	0.655000	0.94253	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	0	NM_001877		1:207640107
GSAP	54103	broad.mit.edu	37	7	77004376	77004376	+	Splice_Site	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:77004376T>C	ENST00000257626.7	-	11	862	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	262					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATAACTTACTTAAATCCTGAG	0.289																																						ENST00000257626.7		NA																	0					NA						c.(784-786)Aaa>Gaa		gamma-secretase activating protein							72.0	70.0	70.0					7																	77004376		2201	4299	6500	SO:0001630	splice_region_variant	54103							g.chr7:77004376T>C		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.785+1A>G	7.37:g.77004376T>C		True	False		Somatic	0					p.K262E	NM_017439.3	NP_059135.2	WXS	Illumina HiSeq	Phase_I					11	862	-			NA					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Splice_Site	SNP	ENST00000257626.7	37	c.784A>G	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056330	0.36277	.	.	ENSG00000186088	ENST00000257626	T	0.20738	2.05	5.73	4.57	0.56435	.	1.115770	0.06881	N	0.802583	T	0.18045	0.0433	L	0.29908	0.895	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.16722	0.016;0.004	T	0.03017	-1.1082	10	0.33940	T	0.23	.	8.604	0.33762	0.0:0.0871:0.0:0.9129	.	262;262	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	E	262	ENSP00000257626:K262E	ENSP00000257626:K262E	K	-	1	0	PION	76842312	1.000000	0.71417	0.998000	0.56505	0.625000	0.37756	2.244000	0.43124	0.995000	0.38917	0.460000	0.39030	AAA		0.289	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	0	NM_017439	Missense_Mutation	7:77004376
PCLO	27445	broad.mit.edu	37	7	82791717	82791717	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:82791717C>T	ENST00000333891.9	-	1	529	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PCLO_ENST00000423517.2_Silent_p.Q64Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGCAGCCCCTGCGCCCTTG	0.632																																						ENST00000333891.9		NA																	0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(190-192)caG>caA		piccolo presynaptic cytomatrix protein							19.0	24.0	23.0					7																	82791717		2108	4216	6324	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82791717C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.192G>A	7.37:g.82791717C>T		True	False		Somatic	0				PCLO_ENST00000423517.2_Silent_p.Q64Q	p.Q64Q	NM_033026.5	NP_149015.2	WXS	Illumina HiSeq	Phase_I	Q9Y6V0	PCLO_HUMAN			1	529	-			NA						Silent	SNP	ENST00000333891.9	37	c.192G>A	CCDS47630.1																																																																																				0.632	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	0	NM_014510		7:82791717
KCNB2	9312	broad.mit.edu	37	8	73848876	73848876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:73848876G>A	ENST00000523207.1	+	3	1874	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGCAGAAACGCCAAGAGAAA	0.443																																						ENST00000523207.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1285-1287)cGc>cAc		potassium voltage-gated channel, Shab-related subfamily, member 2							60.0	64.0	63.0					8																	73848876		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848876G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1286G>A	8.37:g.73848876G>A	ENSP00000430846:p.Arg429His	False	False		Somatic	0					p.R429H	NM_004770.2	NP_004761.2	WXS	Illumina HiSeq	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1874	+	Breast(64;0.137)		429					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1286G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405528	0.83230	.	.	ENSG00000182674	ENST00000523207	D	0.97553	-4.43	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000294	D	0.98264	0.9425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99174	1.0865	10	0.87932	D	0	.	19.6254	0.95676	0.0:0.0:1.0:0.0	.	429	Q92953	KCNB2_HUMAN	H	429	ENSP00000430846:R429H	ENSP00000430846:R429H	R	+	2	0	KCNB2	74011430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.633000	0.89246	0.563000	0.77884	CGC		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	0	NM_004770		8:73848876
KRTAP12-3	386683	broad.mit.edu	37	21	46078062	46078062	+	Missense_Mutation	SNP	G	G	A	rs201241084		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:46078062G>A	ENST00000397907.1	+	1	214	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	56	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGTGTGCGTGCCCGTGAG	0.642																																						ENST00000397907.1		NA																	0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(166-168)Gtg>Atg		keratin associated protein 12-3							91.0	103.0	99.0					21																	46078062		2179	4268	6447	SO:0001583	missense	386683					intermediate filament		g.chr21:46078062G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.166G>A	21.37:g.46078062G>A	ENSP00000381005:p.Val56Met	True	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.V56M	NM_198697.2	NP_941970.2	WXS	Illumina HiSeq	Phase_I	P60328	KR123_HUMAN			1	214	+			56			14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.166G>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	g	9.432	1.085873	0.20390	.	.	ENSG00000205439	ENST00000397907	T	0.08546	3.08	4.25	-2.92	0.05615	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	P	0.34587	0.458	B	0.22880	0.042	T	0.33599	-0.9862	8	0.45353	T	0.12	.	8.1305	0.31024	0.1538:0.4843:0.3619:0.0	.	56	P60328	KR123_HUMAN	M	56	ENSP00000381005:V56M	ENSP00000381005:V56M	V	+	1	0	KRTAP12-3	44902490	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.847000	0.01675	-0.473000	0.06871	-0.691000	0.03719	GTG		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1	0			21:46078062
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	rs577654275	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159.0	164.0	162.0					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp	False	False		Somatic	0					p.R5070W	NM_001270974.1	NP_001257903.1	WXS	Illumina HiSeq	Phase_I	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	0			16:70841641
GBA2	57704	broad.mit.edu	37	9	35738753	35738753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:35738753C>T	ENST00000378103.3	-	12	2466	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.C648Y|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	648					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTACTAGACACACAGGCCA	0.522																																						ENST00000378094.4		NA																	0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1942-1944)tGt>tAt		glucosidase, beta (bile acid) 2							119.0	114.0	116.0					9																	35738753		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738753C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1943G>A	9.37:g.35738753C>T	ENSP00000367343:p.Cys648Tyr	True	False		Somatic	0				GBA2_ENST00000378103.3_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y	p.C648Y			WXS	Illumina HiSeq	Phase_I	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	2456	-	all_epithelial(49;0.167)		648					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1943G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850912	0.71719	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	5.18	0.71444	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.78049	2.395	0.80722	D	1	B;D;B	0.71674	0.202;0.998;0.241	B;D;B	0.67548	0.097;0.952;0.157	T	0.81068	-0.1100	9	0.87932	D	0	-15.2752	13.4627	0.61235	0.0:0.9284:0.0:0.0716	.	654;648;648	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Y	648;648;654	.	ENSP00000367334:C648Y	C	-	2	0	GBA2	35728753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	1.590000	0.49995	0.655000	0.94253	TGT		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	0	NM_020944		9:35738753
