#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
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
KRT2	3849	broad.mit.edu	37	12	53045775	53045777	+	In_Frame_Del	DEL	CCG	CCG	-	rs200226673|rs11835758	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:53045775_53045777delCCG	ENST00000309680.3	-	1	171_173	c.150_152delCGG	c.(148-153)ggcggg>ggg	p.50_51GG>G		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	50	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ACCGAAGCCCCCGCCACCACCAC	0.621																																						ENST00000309680.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(148-153)ggcggg>ggg		keratin 2																																				SO:0001651	inframe_deletion	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53045775_53045777delCCG		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.150_152delCGG	12.37:g.53045775_53045777delCCG	ENSP00000310861:p.Gly52del	True	False		Somatic	1					p.50_51GG>G	NM_000423.2	NP_000414.2	WXS	Illumina HiSeq	Phase_I	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	1	171_173	-			50			Head.		Q4VAQ2	In_Frame_Del	DEL	ENST00000309680.3	37	c.150_152delCGG	CCDS8835.1																																																																																				0.621	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	0	NM_000423		12:53045775
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	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
SMAD4	4089	broad.mit.edu	37	18	48603039	48603066	+	Frame_Shift_Del	DEL	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	rs377767362|rs377767363|rs377767361|rs587781359		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	-	-	TGCAGCAGCAGGCGGCTACTGCACAAGC	TGCAGCAGCAGGCGGCTACTGCACAAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENST00000342988.3	+	11	1878_1905	c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	c.(1339-1368)atgcagcagcaggcggctactgcacaagctfs	p.MQQQAATAQA447fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.MQQQAATAQA351fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	447	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCT	0.452																																						ENST00000588745.1		NA																	42	Whole gene deletion(36)|Deletion - Frameshift(4)|Unknown(2)	p.0?(36)|p.Q448fs*20(2)|p.?(2)|p.Q450fs*17(1)|p.R441fs*16(1)	pancreas(27)|large_intestine(6)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CD064636|CM021631	SMAD4	D|M		c.(1051-1080)atgcagcagcaggcggctactgcacaagctfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1340_1367delTGCAGCAGCAGGCGGCTACTGCACAAGC	18.37:g.48603039_48603066delTGCAGCAGCAGGCGGCTACTGCACAAGC	ENSP00000341551:p.Met447fs	False	False		Somatic	1				SMAD4_ENST00000398417.2_Frame_Shift_Del_p.MQQQAATAQA447fs|SMAD4_ENST00000342988.3_Frame_Shift_Del_p.MQQQAATAQA447fs	p.MQQQAATAQA351fs			WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1052_1079	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	447		D -> N (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1052_1079delTGCAGCAGCAGGCGGCTACTGCACAAGC	CCDS11950.1																																																																																				0.452	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48603039
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
KRTAP10-6	386674	broad.mit.edu	37	21	46011916	46011917	+	In_Frame_Ins	INS	-	-	CTA			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46011916_46011917insCTA	ENST00000400368.1	-	1	469_470	c.449_450insTAG	c.(448-450)ccc>ccTAGc	p.150_151insS	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	150	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CCTGCTGGCAGGGGGAGGAGGT	0.599																																						ENST00000400368.1		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(448-450)ccc>ccTAGc		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46011916_46011917insCTA	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.449_450insTAG	21.37:g.46011916_46011917insCTA	ENSP00000383219:p.Pro150_Cys151insSer	True	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.150_151insS	NM_198688.2	NP_941961.2	WXS	Illumina HiSeq	Phase_I	P60371	KR106_HUMAN			1	469_470	-			150			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.449_450insTAG	CCDS42959.1																																																																																				0.599	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	0	NM_198688		21:46011916
RERE	473	broad.mit.edu	37	1	8555136	8555153	+	In_Frame_Del	DEL	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-	rs186721543	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	-	-	TTCAGAGTGGTGTCATCC	TTCAGAGTGGTGTCATCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	ENST00000337907.3	-	11	1708_1725	c.1074_1091delGGATGACACCACTCTGAA	c.(1072-1092)cgggatgacaccactctgaat>cgt	p.DDTTLN359del	RERE_ENST00000377464.1_In_Frame_Del_p.DDTTLN91del|RERE_ENST00000400907.2_In_Frame_Del_p.DDTTLN359del|RERE_ENST00000400908.2_In_Frame_Del_p.DDTTLN359del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	359	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTCAGTGCATTCAGAGTGGTGTCATCCCGAGAGGCTG	0.491																																						ENST00000337907.3		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1072-1092)cgggatgacaccactctgaat>cgt		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8555136_8555153delTTCAGAGTGGTGTCATCC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1074_1091delGGATGACACCACTCTGAA	1.37:g.8555136_8555153delTTCAGAGTGGTGTCATCC	ENSP00000338629:p.Asp359_Asn364del	False	False		Somatic	1				RERE_ENST00000400908.2_In_Frame_Del_p.DDTTLN359del|RERE_ENST00000377464.1_In_Frame_Del_p.DDTTLN91del|RERE_ENST00000400907.2_In_Frame_Del_p.DDTTLN359del	p.DDTTLN359del	NM_012102.3	NP_036234.3	WXS	Illumina HiSeq	Phase_I	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	11	1708_1725	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	359			ELM2.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.1074_1091delGGATGACACCACTCTGAA	CCDS95.1																																																																																				0.491	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	0			1:8555136
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	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
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
MACF1	23499	broad.mit.edu	37	1	39784230	39784230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:39784230G>A	ENST00000372915.3	+	29	3990	c.3903G>A	c.(3901-3903)atG>atA	p.M1301I	MACF1_ENST00000564288.1_Missense_Mutation_p.M1296I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1301					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGAAATGATGAAGCCAGGCC	0.512																																						ENST00000564288.1		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3886-3888)atG>atA		microtubule-actin crosslinking factor 1							75.0	65.0	68.0					1																	39784230		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39784230G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3903G>A	1.37:g.39784230G>A	ENSP00000362006:p.Met1301Ile	False	False		Somatic	0				MACF1_ENST00000545844.1_Missense_Mutation_p.M1301I|MACF1_ENST00000567887.1_Missense_Mutation_p.M1333I|MACF1_ENST00000361689.2_Missense_Mutation_p.M1301I|MACF1_ENST00000539005.1_Missense_Mutation_p.M1301I|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.M1301I|MACF1_ENST00000317713.7_Missense_Mutation_p.M1301I	p.M1296I			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		30	4665	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1301	TA -> LP (in Ref. 4; AAL39000).				B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3888G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.584623|2.584623	0.46110|0.46110	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	.|T;T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|.	.|.	.|.	.|.	T|T	0.24928|0.24928	0.0605|0.0605	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.34587	.|0.458;0.32;0.019	.|B;B;B	.|0.31869	.|0.137;0.077;0.032	T|T	0.05835|0.05835	-1.0861|-1.0861	5|9	.|0.10636	.|T	.|0.68	.|.	20.4387|20.4387	0.99107|0.99107	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1301;1301;1266	.|F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|.;.;.	K|I	435|1301;1301;1301;1301;1301;1259;1450	.|ENSP00000439537:M1301I;ENSP00000362006:M1301I;ENSP00000354573:M1301I;ENSP00000313438:M1301I;ENSP00000444364:M1301I;ENSP00000435070:M1259I;ENSP00000437059:M1450I	.|ENSP00000313438:M1301I	E|M	+|+	1|3	0|0	MACF1|MACF1	39556817|39556817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.371000|3.371000	0.52379|0.52379	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.512	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39784230
MCM2	4171	broad.mit.edu	37	3	127327253	127327253	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:127327253G>A	ENST00000265056.7	+	7	1374	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	377					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CAGCGTATCCGAATCCAGGAG	0.577																																						ENST00000265056.7		NA																	0				ovary(3)|skin(2)|stomach(1)	6						c.(1129-1131)cGa>cAa		minichromosome maintenance complex component 2							134.0	139.0	138.0					3																	127327253		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327253G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1130G>A	3.37:g.127327253G>A	ENSP00000265056:p.Arg377Gln	False	False		Somatic	0					p.R377Q	NM_004526.2	NP_004517.2	WXS	Illumina HiSeq	Phase_I	P49736	MCM2_HUMAN			7	1374	+			377					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1130G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.95|17.95	3.513847|3.513847	0.64522|0.64522	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.30448	.|1.53	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|0.364383	.|0.28482	.|N	.|0.015195	T|T	0.16727|0.16727	0.0402|0.0402	L|L	0.31926|0.31926	0.97|0.97	0.33187|0.33187	D|D	0.550306|0.550306	.|P;B;B	.|0.43633	.|0.813;0.004;0.001	.|B;B;B	.|0.28553	.|0.091;0.002;0.002	T|T	0.35025|0.35025	-0.9805|-0.9805	5|10	.|0.87932	.|D	.|0	-10.9958|-10.9958	6.1021|6.1021	0.20053|0.20053	0.1218:0.1885:0.6897:0.0|0.1218:0.1885:0.6897:0.0	.|.	.|358;247;377	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	K|Q	240|377;281;358	.|ENSP00000265056:R377Q	.|ENSP00000265056:R377Q	E|R	+|+	1|2	0|0	MCM2|MCM2	128809943|128809943	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.992000|0.992000	0.81027|0.81027	4.447000|4.447000	0.60020|0.60020	2.476000|2.476000	0.83614|0.83614	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.577	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	0			3:127327253
OR52R1	119695	broad.mit.edu	37	11	4824947	4824947	+	Missense_Mutation	SNP	C	C	T	rs200440576		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:4824947C>T	ENST00000356069.2	-	1	663	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	OR52R1_ENST00000380382.1_Missense_Mutation_p.V301M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAATCATCACGTATGACATA	0.473																																						ENST00000380382.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(901-903)Gtg>Atg		olfactory receptor, family 52, subfamily R, member 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	91.0	77.0	82.0		664	-1.2	0.8	11		82	1,8595	1.2+/-3.3	0,1,4297	yes	missense	OR52R1	NM_001005177.3	21	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	benign	222/316	4824947	2,12996	2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4824947C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.664G>A	11.37:g.4824947C>T	ENSP00000348368:p.Val222Met	False	False		Somatic	0				OR52R1_ENST00000356069.2_Missense_Mutation_p.V222M|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V301M			WXS	Illumina HiSeq	Phase_I	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	900	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	222					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.901G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	5.145	0.212274	0.09757	2.27E-4	1.16E-4	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00265	8.39;8.39	5.57	-1.2	0.09554	GPCR, rhodopsin-like superfamily (1);	0.599214	0.14194	N	0.335121	T	0.00210	0.0006	L	0.54908	1.71	0.09310	N	1	B	0.33919	0.432	B	0.36134	0.218	T	0.26292	-1.0107	10	0.54805	T	0.06	.	11.3854	0.49782	0.0:0.482:0.0:0.518	.	222	Q8NGF1	O52R1_HUMAN	M	222;301	ENSP00000348368:V222M;ENSP00000369742:V301M	ENSP00000348368:V222M	V	-	1	0	OR52R1	4781523	0.000000	0.05858	0.813000	0.32504	0.024000	0.10985	-2.137000	0.01304	-0.109000	0.12044	-1.314000	0.01303	GTG		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	0	NM_001005177		11:4824947
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383																																						ENST00000334635.5		NA																	0				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9						c.(691-693)cTt>cCt		DCN1, defective in cullin neddylation 1, domain containing 4							121.0	119.0	119.0					4																	52777312		2203	4300	6503	SO:0001583	missense	23142							g.chr4:52777312T>C	D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"""DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"""			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.692T>C	4.37:g.52777312T>C	ENSP00000334625:p.Leu231Pro	True	False		Somatic	0				DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	p.L231P	NM_001040402.1	NP_001035492.1	WXS	Illumina HiSeq	Phase_I	Q92564	DCNL4_HUMAN	GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		9	872	+			231			DCUN1.		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	ENST00000334635.5	37	c.692T>C	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683870	0.88639	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.69306	-0.39;-0.39;-0.39	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89414	0.3705	10	0.62326	D	0.03	-14.1468	15.642	0.77012	0.0:0.0:0.0:1.0	.	275;231	B4DH25;Q92564	.;DCNL4_HUMAN	P	231;171;275;41	ENSP00000334625:L231P;ENSP00000370846:L171P;ENSP00000389900:L275P	ENSP00000334625:L231P	L	+	2	0	DCUN1D4	52472069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTT		0.383	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	0	NM_015115		4:52777312
MED13L	23389	broad.mit.edu	37	12	116413394	116413394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:116413394C>A	ENST00000281928.3	-	24	5720	c.5514G>T	c.(5512-5514)tgG>tgT	p.W1838C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1838						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGCCAAAAGCCAGCGCTGGT	0.483																																						ENST00000281928.3		NA																	0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5512-5514)tgG>tgT		mediator complex subunit 13-like							94.0	88.0	90.0					12																	116413394		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413394C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5514G>T	12.37:g.116413394C>A	ENSP00000281928:p.Trp1838Cys	False	False		Somatic	0					p.W1838C	NM_015335.4	NP_056150.1	WXS	Illumina HiSeq	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	24	5720	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1838					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5514G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.652595|4.652595	0.88056|0.88056	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000552447|ENST00000281928	.|D	.|0.98400	.|-4.91	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99585|0.99585	1.0974|1.0974	5|10	.|0.87932	.|D	.|0	-8.283|-8.283	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1838	.|Q71F56	.|MD13L_HUMAN	S|C	31|1838	.|ENSP00000281928:W1838C	.|ENSP00000281928:W1838C	A|W	-|-	1|3	0|0	MED13L|MED13L	114897777|114897777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|TGG		0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3	0			12:116413394
IGLV2-14	28815	broad.mit.edu	37	22	23101570	23101570	+	RNA	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr22:23101570G>A	ENST00000390312.2	+	0	265				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		GTCAGTAATCGGCCCTCAGGG	0.532																																						ENST00000390312.2		NA																	0					NA															167.0	180.0	176.0					22																	23101570		1862	4100	5962			0							g.chr22:23101570G>A	Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101570G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	265	+			NA						RNA	SNP	ENST00000390312.2	37																																																																																						0.532	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321840.1	0	NG_000002		22:23101570
TEFM	79736	broad.mit.edu	37	17	29226555	29226555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:29226555G>A	ENST00000581216.1	-	4	1336	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	TEFM_ENST00000580840.1_3'UTR|TEFM_ENST00000579183.1_5'Flank	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	239					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)										GATGAGTTCTGAATGGAAAGT	0.348																																						ENST00000581216.1		NA																	0					NA						c.(715-717)Cag>Tag		transcription elongation factor, mitochondrial							89.0	90.0	90.0					17																	29226555		1826	4081	5907	SO:0001587	stop_gained	79736				oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	g.chr17:29226555G>A		CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.715C>T	17.37:g.29226555G>A	ENSP00000462963:p.Gln239*	False	False		Somatic	0				TEFM_ENST00000580840.1_3'UTR	p.Q239*	NM_024683.3	NP_078959.3	WXS	Illumina HiSeq	Phase_I	Q96QE5	TEFM_HUMAN			4	1336	-			239					E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Nonsense_Mutation	SNP	ENST00000581216.1	37	c.715C>T	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	G	42	9.191115	0.99094	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-19.1159	13.3771	0.60745	0.0751:0.0:0.9249:0.0	.	.	.	.	X	239	.	ENSP00000306574:Q239X	Q	-	1	0	C17orf42	26250681	1.000000	0.71417	0.998000	0.56505	0.925000	0.55904	4.385000	0.59613	2.880000	0.98712	0.650000	0.86243	CAG		0.348	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	0	NM_024683		17:29226555
NBR2	10230	broad.mit.edu	37	17	41290990	41290990	+	RNA	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41290990C>A	ENST00000460115.1	+	0	490					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		caaccttcaccacctctagcc	0.458																																						ENST00000460115.1		NA																	0					NA															8.0	8.0	8.0					17																	41290990		692	1588	2280			0							g.chr17:41290990C>A	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290990C>A		False	False		Somatic	0						NR_003108.1		WXS	Illumina HiSeq	Phase_I					0	490	+			NA					Q3LRJ7	RNA	SNP	ENST00000460115.1	37																																																																																						0.458	NBR2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000277175.1	0	NR_003108		17:41290990
ANKRD30BL	554226	broad.mit.edu	37	2	132905776	132905776	+	Silent	SNP	A	A	G	rs16848773	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:132905776A>G	ENST00000409867.1	-	6	954	c.705T>C	c.(703-705)gaT>gaC	p.D235D	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	235										endometrium(1)|kidney(3)	4						GTGCAGCCTCATCAGGTGTTC	0.433																																						ENST00000409867.1		NA																	0				endometrium(1)|kidney(3)	4						c.(703-705)gaT>gaC		ankyrin repeat domain 30B-like																																				SO:0001819	synonymous_variant	554226							g.chr2:132905776A>G			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.705T>C	2.37:g.132905776A>G		False	False		Somatic	0				ANKRD30BL_ENST00000470729.1_5'UTR	p.D235D			WXS	Illumina HiSeq	Phase_I					6	954	-			NA					B8ZZL7	Silent	SNP	ENST00000409867.1	37	c.705T>C																																																																																					0.433	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	0	NR_027019		2:132905776
PCDHGB7	56099	broad.mit.edu	37	5	140798660	140798660	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140798660C>T	ENST00000398594.2	+	1	1234	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCTGGATCGGGAGCAGAC	0.473																																						ENST00000398594.2		NA																	0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1234-1236)Cgg>Tgg									42.0	46.0	45.0					5																	140798660		2078	4186	6264	SO:0001583	missense	0							g.chr5:140798660C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1234C>T	5.37:g.140798660C>T	ENSP00000381594:p.Arg412Trp	True	False		Somatic	0				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R412W	NM_018927.3	NP_061750.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1234	+			NA					Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1234C>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	14.00	2.405532	0.42715	.	.	ENSG00000254122	ENST00000398594	T	0.01685	4.69	5.31	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	0.000000	0.28671	U	0.014540	T	0.19167	0.0460	H	0.97940	4.11	0.22648	N	0.998896	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44982	-0.9292	10	0.87932	D	0	.	19.8821	0.96901	0.8062:0.1938:0.0:0.0	.	412;412	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	W	412	ENSP00000381594:R412W	ENSP00000381594:R412W	R	+	1	2	PCDHGB7	140778844	0.029000	0.19370	0.019000	0.16419	0.952000	0.60782	-0.448000	0.06820	-0.478000	0.06823	0.561000	0.74099	CGG		0.473	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	0	NM_018927		5:140798660
MCF2	4168	broad.mit.edu	37	X	138678769	138678769	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:138678769C>T	ENST00000370576.4	-	19	2425	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H|MCF2_ENST00000520602.1_Missense_Mutation_p.R799H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|AL033403.1_ENST00000401295.2_RNA	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCAACACGCCTTTTGCA	0.383																																						ENST00000520602.1		NA																	0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2395-2397)cGt>cAt		MCF.2 cell line derived transforming sequence							107.0	88.0	94.0					X																	138678769		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138678769C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2216G>A	X.37:g.138678769C>T	ENSP00000359608:p.Arg739His	False	False		Somatic	0				MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000370576.4_Missense_Mutation_p.R739H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H	p.R799H			WXS	Illumina HiSeq	Phase_I	P10911	MCF2_HUMAN			22	2681	-	Acute lymphoblastic leukemia(192;0.000127)		739			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2396G>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948071	0.92593	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.56611	0.99;0.88;0.79;0.99;0.99;0.45;1.05;0.9;0.95	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	M	0.93197	3.39	0.48830	D	0.999716	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;P;P;P;D;P	0.87578	0.834;0.994;0.886;0.834;0.886;0.834;0.998;0.834	D	0.85413	0.1138	10	0.66056	D	0.02	.	17.6181	0.88073	0.0:1.0:0.0:0.0	.	815;884;700;739;739;884;755;739	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	H	799;739;700;884;799;342;815;739;755	ENSP00000427745:R799H;ENSP00000359608:R739H;ENSP00000438155:R700H;ENSP00000359610:R884H;ENSP00000397055:R799H;ENSP00000405848:R342H;ENSP00000430276:R815H;ENSP00000359605:R739H;ENSP00000342204:R755H	ENSP00000342204:R755H	R	-	2	0	MCF2	138506435	1.000000	0.71417	0.719000	0.30619	0.940000	0.58332	6.066000	0.71185	2.376000	0.81061	0.600000	0.82982	CGT		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	0	NM_005369		X:138678769
CIDEB	27141	broad.mit.edu	37	14	24779887	24779887	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:24779887G>A	ENST00000336557.5	-	0	714				CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|CIDEB_ENST00000555817.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|LTB4R_ENST00000345363.3_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b						apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCTGCTACCGTCCCCCAGGG	0.662																																						ENST00000336557.5		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7								cell death-inducing DFFA-like effector b							58.0	52.0	54.0					14																	24779887		2203	4300	6503			27141				apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol		g.chr14:24779887G>A	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.-589C>T	14.37:g.24779887G>A		False	False		Somatic	0				CIDEB_ENST00000258807.5_De_novo_Start_OutOfFrame|LTB4R2_ENST00000528054.1_Missense_Mutation_p.R37H|LTB4R2_ENST00000533293.1_Missense_Mutation_p.R6H|LTB4R2_ENST00000543919.1_Missense_Mutation_p.R6H				WXS	Illumina HiSeq	Phase_I	Q9UHD4	CIDEB_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	0	714	-			NA					D3DS73|Q546V8|Q9NNW9	Translation_Start_Site	SNP	ENST00000336557.5	37		CCDS32056.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033641	0.54896	.	.	ENSG00000213906	ENST00000527924;ENST00000528054;ENST00000533293;ENST00000543919;ENST00000530080	T;T;T;T;T	0.78246	-1.16;1.2;-0.33;-0.33;-0.33	5.26	3.08	0.35506	.	1.634670	0.03830	U	0.268870	T	0.65533	0.2700	N	0.19112	0.55	0.25938	N	0.982902	B	0.28208	0.203	B	0.17098	0.017	T	0.56092	-0.8036	10	0.48119	T	0.1	.	8.2552	0.31751	0.2082:0.0:0.7918:0.0	.	37	Q9NPC1	LT4R2_HUMAN	H	6;37;6;6;6	ENSP00000436668:R6H;ENSP00000432146:R37H;ENSP00000433290:R6H;ENSP00000445772:R6H;ENSP00000434760:R6H	ENSP00000337731:R37H	R	+	2	0	LTB4R2	23849727	0.000000	0.05858	0.423000	0.26634	0.986000	0.74619	-0.139000	0.10358	1.232000	0.43678	0.561000	0.74099	CGT		0.662	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414120.1	0			14:24779887
AJAP1	55966	broad.mit.edu	37	1	4832475	4832475	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:4832475C>T	ENST00000378191.4	+	4	1434	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	AJAP1_ENST00000378190.3_Silent_p.N351N	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	351	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCTATAACGAGACCCTGC	0.597																																						ENST00000378191.4		NA																	0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(1051-1053)aaC>aaT		adherens junctions associated protein 1							78.0	67.0	71.0					1																	4832475		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832475C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1053C>T	1.37:g.4832475C>T		False	False		Somatic	0				AJAP1_ENST00000378190.3_Silent_p.N351N	p.N351N	NM_018836.3	NP_061324.1	WXS	Illumina HiSeq	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1434	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	351			Targeting signals.		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.1053C>T	CCDS54.1																																																																																				0.597	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	0	NM_018836		1:4832475
ITPA	3704	broad.mit.edu	37	20	3193873	3193873	+	Splice_Site	SNP	G	G	A	rs376142053		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3193873G>A	ENST00000380113.3	+	2	316		c.e2+1		ITPA_ENST00000399838.3_Intron|ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000455664.2_Splice_Site	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						AAAATTGACCGTATGTCTCTG	0.403																																						ENST00000380113.3		NA																	0				autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						c.e2+1		inosine triphosphatase (nucleoside triphosphate pyrophosphatase)		G	,	0,4406		0,0,2203	180.0	174.0	176.0		,	5.4	1.0	20		176	1,8599	2.2+/-6.3	0,1,4299	no	splice-5,splice-5	ITPA	NM_033453.2,NM_181493.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	3193873	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3193873G>A	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.124+1G>A	20.37:g.3193873G>A		False	False		Somatic	0				ITPA_ENST00000483354.1_Splice_Site|ITPA_ENST00000399838.3_Intron|ITPA_ENST00000455664.2_Splice_Site		NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1	WXS	Illumina HiSeq	Phase_I	Q9BY32	ITPA_HUMAN			2	316	+			NA						Splice_Site	SNP	ENST00000380113.3	37		CCDS13051.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987186	0.74589	0.0	1.16E-4	ENSG00000125877	ENST00000380113;ENST00000455664	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8694	0.70444	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPA	3141873	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.722000	0.84778	2.585000	0.87301	0.644000	0.83932	.		0.403	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2	0		Intron	20:3193873
FLG	2312	broad.mit.edu	37	1	152284369	152284369	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:152284369G>C	ENST00000368799.1	-	3	3028	c.2993C>G	c.(2992-2994)tCt>tGt	p.S998C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	998	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S998Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGCAGAGTGCCCGTG	0.562									Ichthyosis																													ENST00000368799.1		NA																	1	Substitution - Missense(1)	p.S998Y(1)	lung(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2992-2994)tCt>tGt		filaggrin							255.0	257.0	256.0					1																	152284369		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284369G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2993C>G	1.37:g.152284369G>C	ENSP00000357789:p.Ser998Cys	False	False		Somatic	0				FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S998C	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3028	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		998			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2993C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	4.893	0.165929	0.09339	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00808	5.67	2.29	2.29	0.28610	.	.	.	.	.	T	0.00637	0.0021	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	B	0.41917	0.37	T	0.51317	-0.8721	9	0.66056	D	0.02	.	7.8265	0.29318	0.0:0.0:1.0:0.0	.	998	P20930	FILA_HUMAN	C	998;205	ENSP00000357789:S998C	ENSP00000357789:S998C	S	-	2	0	FLG	150550993	0.008000	0.16893	0.001000	0.08648	0.062000	0.15995	2.614000	0.46359	1.117000	0.41842	0.291000	0.19559	TCT		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152284369
UBE2G2	7327	broad.mit.edu	37	21	46191357	46191357	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46191357G>A	ENST00000345496.2	-	6	703	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	145					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K48-linked ubiquitination (GO:0070936)|protein N-linked glycosylation via asparagine (GO:0018279)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		CGGTCATCGCGCCACATTTTG	0.532																																						ENST00000345496.2		NA																	0				breast(3)|central_nervous_system(1)|lung(1)	5						c.(433-435)Cgc>Tgc		ubiquitin-conjugating enzyme E2G 2							196.0	170.0	179.0					21																	46191357		2203	4300	6503	SO:0001583	missense	7327				protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr21:46191357G>A	BC008351	CCDS13714.1, CCDS33586.1	21q22.3	2011-05-19	2011-05-19		ENSG00000184787	ENSG00000184787		"""Ubiquitin-conjugating enzymes E2"""	12483	protein-coding gene	gene with protein product		603124	"""ubiquitin-conjugating enzyme E2G 2 (homologous to yeast UBC7)"", ""ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast)"""			9693041, 9925943	Standard	NM_003343		Approved	UBC7	uc002zfy.3	P60604	OTTHUMG00000089179	ENST00000345496.2:c.433C>T	21.37:g.46191357G>A	ENSP00000338348:p.Arg145Cys	False	False		Somatic	0				UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_Missense_Mutation_p.R117C	p.R145C	NM_003343.5	NP_003334.2	WXS	Illumina HiSeq	Phase_I	P60604	UB2G2_HUMAN		Colorectal(79;0.0638)	6	703	-			145					A6NMQ7|A8K3L4|D3DSL7|P56554	Missense_Mutation	SNP	ENST00000345496.2	37	c.433C>T	CCDS13714.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220071	0.58560	.	.	ENSG00000184787	ENST00000345496;ENST00000330942	T;T	0.39056	1.1;1.1	5.19	4.31	0.51392	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.176152	0.51477	D	0.000086	T	0.54464	0.1860	M	0.93678	3.445	0.80722	D	1	P	0.45902	0.868	B	0.39805	0.31	T	0.69161	-0.5218	10	0.87932	D	0	-5.1704	13.5327	0.61631	0.0769:0.0:0.9231:0.0	.	145	P60604	UB2G2_HUMAN	C	145;117	ENSP00000338348:R145C;ENSP00000331384:R117C	ENSP00000331384:R117C	R	-	1	0	UBE2G2	45015785	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	7.458000	0.80787	1.165000	0.42670	-0.291000	0.09656	CGC		0.532	UBE2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202647.2	0	NM_182688		21:46191357
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs569926953|rs147652902	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493																																						ENST00000329434.2		NA																	1	Substitution - Missense(1)	p.E107K(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22						c.(319-321)Gaa>Aaa		olfactory receptor, family 5, subfamily P, member 2		C	LYS/GLU	2,4206		0,2,2102	97.0	113.0	108.0		319	5.5	0.8	11	dbSNP_134	108	0,8584		0,0,4292	no	missense	OR5P2	NM_153444.1	56	0,2,6394	TT,TC,CC		0.0,0.0475,0.0156	probably-damaging	107/323	7818171	2,12790	2104	4292	6396	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7818171C>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319G>A	11.37:g.7818171C>T	ENSP00000331823:p.Glu107Lys	False	False		Somatic	0				RP11-35J10.5_ENST00000527565.1_lincRNA	p.E107K	NM_153444.1	NP_703145.1	WXS	Illumina HiSeq	Phase_I	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	349	-			107					Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.319G>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724582	0.48833	4.75E-4	0.0	ENSG00000183303	ENST00000329434	T	0.00414	7.52	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.087192	0.49916	D	0.000131	T	0.01835	0.0058	M	0.92219	3.285	0.36026	D	0.8391	D	0.76494	0.999	D	0.73380	0.98	T	0.33085	-0.9882	10	0.87932	D	0	-34.5014	16.9428	0.86222	0.0:1.0:0.0:0.0	.	107	Q8WZ92	OR5P2_HUMAN	K	107	ENSP00000331823:E107K	ENSP00000331823:E107K	E	-	1	0	OR5P2	7774747	0.025000	0.19082	0.822000	0.32727	0.009000	0.06853	1.607000	0.36836	2.868000	0.98415	0.555000	0.69702	GAA		0.493	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	0	NM_153444		11:7818171
DOCK1	1793	broad.mit.edu	37	10	129216680	129216680	+	Missense_Mutation	SNP	G	G	A	rs369052092		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:129216680G>A	ENST00000280333.6	+	45	4613	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1502	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTGACGAACGACAAGATCAA	0.587																																						ENST00000280333.6		NA																	0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4504-4506)Gac>Aac		dedicator of cytokinesis 1		G	ASN/ASP	1,4397	2.1+/-5.4	0,1,2198	62.0	74.0	70.0		4459	4.8	1.0	10		70	0,8600		0,0,4300	no	missense	DOCK1	NM_001380.3	23	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1487/1851	129216680	1,12997	2199	4300	6499	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129216680G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4504G>A	10.37:g.129216680G>A	ENSP00000280333:p.Asp1502Asn	True	False		Somatic	0					p.D1502N	NM_001380.3	NP_001371.1	WXS	Illumina HiSeq	Phase_I	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	45	4613	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1502			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4504G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	3.999692	0.74818	2.27E-4	0.0	ENSG00000150760	ENST00000280333	T	0.16897	2.31	4.8	4.8	0.61643	.	0.060595	0.64402	D	0.000002	T	0.15782	0.0380	N	0.14661	0.345	0.80722	D	1	B;P;P	0.48834	0.36;0.567;0.916	B;B;P	0.46320	0.22;0.09;0.512	T	0.04811	-1.0925	10	0.51188	T	0.08	.	18.0621	0.89380	0.0:0.0:1.0:0.0	.	1502;1568;1502	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	N	1502	ENSP00000280333:D1502N	ENSP00000280333:D1502N	D	+	1	0	DOCK1	129106670	1.000000	0.71417	0.982000	0.44146	0.873000	0.50193	9.595000	0.98260	2.492000	0.84095	0.555000	0.69702	GAC		0.587	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	0	NM_001380		10:129216680
LATS1	9113	broad.mit.edu	37	6	149983251	149983251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:149983251C>A	ENST00000543571.1	-	8	3554	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTTTTATTTCATCAGCACCA	0.408																																						ENST00000543571.1		NA																	0				central_nervous_system(1)|lung(5)	6						c.(3007-3009)Gaa>Taa		large tumor suppressor kinase 1							130.0	132.0	131.0					6																	149983251		2203	4300	6503	SO:0001587	stop_gained	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149983251C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3007G>T	6.37:g.149983251C>A	ENSP00000437550:p.Glu1003*	True	False		Somatic	0				LATS1_ENST00000253339.5_Nonsense_Mutation_p.E1003*	p.E1003*	NM_004690.3	NP_004681.1	WXS	Illumina HiSeq	Phase_I	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3554	-		Ovarian(120;0.0164)	1003			Protein kinase.			Nonsense_Mutation	SNP	ENST00000543571.1	37	c.3007G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.619519	0.98888	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	.	.	.	5.45	5.45	0.79879	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2848	0.94066	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	.	E	-	1	0	LATS1	150024944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.562000	0.86427	0.591000	0.81541	GAA		0.408	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	0	NM_004690		6:149983251
STAG2	10735	broad.mit.edu	37	X	123181240	123181240	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:123181240T>A	ENST00000371160.1	+	9	994	c.704T>A	c.(703-705)cTa>cAa	p.L235Q	STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	235					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATGTGGCACTAAATCTTAGC	0.328																																						ENST00000371160.1		NA																	0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(703-705)cTa>cAa		stromal antigen 2							85.0	80.0	82.0					X																	123181240		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123181240T>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.704T>A	X.37:g.123181240T>A	ENSP00000360202:p.Leu235Gln	True	False		Somatic	0				STAG2_ENST00000218089.9_Missense_Mutation_p.L235Q|STAG2_ENST00000371145.3_Missense_Mutation_p.L235Q|STAG2_ENST00000354548.5_Missense_Mutation_p.L166Q|STAG2_ENST00000371157.3_Missense_Mutation_p.L235Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L235Q	p.L235Q	NM_001282418.1	NP_001269347.1	WXS	Illumina HiSeq	Phase_I	Q8N3U4	STAG2_HUMAN			9	994	+			235					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.704T>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531408	0.85706	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.69	5.69	0.88448	STAG (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.57725	0.2073	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.91635	0.891;0.999	T	0.58747	-0.7582	10	0.27082	T	0.32	-12.9753	14.8699	0.70448	0.0:0.0:0.0:1.0	.	235;235	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	235;235;166;235;235;235;235	ENSP00000218089:L235Q;ENSP00000397265:L235Q;ENSP00000346555:L166Q;ENSP00000360202:L235Q;ENSP00000360199:L235Q;ENSP00000360187:L235Q;ENSP00000360186:L235Q	ENSP00000218089:L235Q	L	+	2	0	STAG2	123008921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.893000	0.54813	0.486000	0.48141	CTA		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	0	NM_006603		X:123181240
CHMP7	91782	broad.mit.edu	37	8	23114047	23114047	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:23114047G>A	ENST00000397677.1	+	5	1380	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHMP7_ENST00000313219.7_Silent_p.L244L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	244					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGTACCAGCTGATGCAGAGTG	0.517																																						ENST00000397677.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(730-732)ctG>ctA		charged multivesicular body protein 7							266.0	242.0	250.0					8																	23114047		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23114047G>A	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.732G>A	8.37:g.23114047G>A		False	False		Somatic	0				CHMP7_ENST00000313219.7_Silent_p.L244L	p.L244L	NM_152272.3	NP_689485.1	WXS	Illumina HiSeq	Phase_I	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	5	1380	+		Prostate(55;0.0513)	244					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.732G>A	CCDS6040.1																																																																																				0.517	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	0	NM_152272		8:23114047
CILP2	148113	broad.mit.edu	37	19	19656676	19656676	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:19656676C>T	ENST00000291495.5	+	8	3407	c.3322C>T	c.(3322-3324)Ccg>Tcg	p.P1108S	CILP2_ENST00000586018.1_Missense_Mutation_p.P1114S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1108						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGAGCCACCGGCCGGACG	0.657																																						ENST00000586018.1		NA																	0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(3340-3342)Ccg>Tcg		cartilage intermediate layer protein 2							11.0	11.0	11.0					19																	19656676		2094	4117	6211	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656676C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3322C>T	19.37:g.19656676C>T	ENSP00000291495:p.Pro1108Ser	True	False		Somatic	0				CILP2_ENST00000291495.5_Missense_Mutation_p.P1108S	p.P1114S			WXS	Illumina HiSeq	Phase_I	Q8IUL8	CILP2_HUMAN			8	3442	+			1108					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.3340C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.516760	0.00975	.	.	ENSG00000160161	ENST00000291495	T	0.49139	0.79	5.57	0.901	0.19284	.	0.431826	0.25919	N	0.027455	T	0.29588	0.0738	L	0.38531	1.155	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.15809	-1.0424	10	0.17832	T	0.49	-2.1441	5.6241	0.17473	0.1343:0.5332:0.2595:0.0731	.	1108;1108	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	1108	ENSP00000291495:P1108S	ENSP00000291495:P1108S	P	+	1	0	CILP2	19517676	0.000000	0.05858	0.004000	0.12327	0.089000	0.18198	-0.586000	0.05787	0.035000	0.15519	-0.314000	0.08810	CCG		0.657	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	0	NM_153221		19:19656676
PLK1	5347	broad.mit.edu	37	16	23702206	23702206	+	IGR	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:23702206G>C	ENST00000300093.4	+	0	2227				ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Nonsense_Mutation_p.Y957*	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTGGCGGGTAGTAGGGCAGGA	0.632																																					Colon(12;240 564 27038 33155)	ENST00000256797.4		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2869-2871)taC>taG		endoplasmic reticulum to nucleus signaling 2							49.0	49.0	49.0					16																	23702206		2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702206G>C		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702206G>C		False	False		Somatic	0				ERN2_ENST00000457008.2_Nonsense_Mutation_p.Y857*	p.Y957*	NM_033266.3	NP_150296.3	WXS	Illumina HiSeq	Phase_I	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	3039	-			909					Q15153|Q99746	Nonsense_Mutation	SNP	ENST00000300093.4	37	c.2871C>G	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	35	5.446653	0.96205	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	.	.	.	5.22	3.27	0.37495	.	0.137924	0.50627	D	0.000116	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7745	0.40609	0.1703:0.0:0.8297:0.0	.	.	.	.	X	957;857	.	ENSP00000256797:Y957X	Y	-	3	2	ERN2	23609707	1.000000	0.71417	0.993000	0.49108	0.372000	0.29890	2.117000	0.41939	0.703000	0.31848	0.561000	0.74099	TAC		0.632	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	0	NM_005030		16:23702206
ELK4	2005	broad.mit.edu	37	1	205589059	205589059	+	Intron	SNP	A	A	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:205589059A>C	ENST00000357992.4	-	3	1420				ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Missense_Mutation_p.L372R	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)						cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATAAATGAAAGCAATGGTGA	0.408			T	SLC45A3	prostate																																	ENST00000289703.4		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(1114-1116)cTt>cGt		ELK4, ETS-domain protein (SRF accessory protein 1)							71.0	73.0	72.0					1																	205589059		2203	4300	6503	SO:0001627	intron_variant	2005							g.chr1:205589059A>C	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1080+34T>G	1.37:g.205589059A>C		True	False		Somatic	0				ELK4_ENST00000357992.4_Intron	p.L372R	NM_021795.2	NP_068567.1	WXS	Illumina HiSeq	Phase_I			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1454	-	Breast(84;0.07)		NA					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.1115T>G	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995852	0.54147	.	.	ENSG00000158711	ENST00000289703	T	0.61392	0.11	5.81	3.25	0.37280	.	.	.	.	.	T	0.47710	0.1460	.	.	.	0.26154	N	0.980109	B	0.27791	0.189	B	0.30179	0.112	T	0.45041	-0.9288	8	0.72032	D	0.01	.	7.2071	0.25913	0.7602:0.0:0.2398:0.0	.	372	P28324-2	.	R	372	ENSP00000289703:L372R	ENSP00000289703:L372R	L	-	2	0	ELK4	203855682	0.000000	0.05858	0.010000	0.14722	0.029000	0.11900	0.764000	0.26532	0.357000	0.24183	0.533000	0.62120	CTT		0.408	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	0	NM_021795		1:205589059
APBB2	323	broad.mit.edu	37	4	40895355	40895355	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:40895355G>A	ENST00000295974.8	-	11	1954	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	APBB2_ENST00000506352.1_Missense_Mutation_p.A421V|APBB2_ENST00000508593.1_Missense_Mutation_p.A443V|APBB2_ENST00000513140.1_Missense_Mutation_p.A421V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	442	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.A421V(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTTGTTGACCGCAACACTACT	0.502																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8		NA																	1	Substitution - Missense(1)	p.A421V(1)	urinary_tract(1)	central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(1324-1326)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 2							206.0	213.0	211.0					4																	40895355		1997	4171	6168	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40895355G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1325C>T	4.37:g.40895355G>A	ENSP00000295974:p.Ala442Val	False	False		Somatic	0				APBB2_ENST00000508593.1_Missense_Mutation_p.A443V|APBB2_ENST00000513140.1_Missense_Mutation_p.A421V|APBB2_ENST00000506352.1_Missense_Mutation_p.A421V	p.A442V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	WXS	Illumina HiSeq	Phase_I	Q92870	APBB2_HUMAN			11	1954	-			442			PID 1.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1325C>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243991	0.79912	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.64	5.64	0.86602	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.999;0.999	T	0.17198	-1.0377	10	0.66056	D	0.02	-15.5656	19.7013	0.96054	0.0:0.0:1.0:0.0	.	404;443;421;442	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	V	442;441;421;443;421	ENSP00000295974:A442V;ENSP00000426018:A421V;ENSP00000427211:A443V;ENSP00000421539:A421V	ENSP00000295974:A442V	A	-	2	0	APBB2	40590112	1.000000	0.71417	0.604000	0.28916	0.138000	0.21146	9.771000	0.98977	2.657000	0.90304	0.655000	0.94253	GCG		0.502	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	0	NM_173075		4:40895355
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					ENST00000380095.1		NA																	1	Substitution - Missense(1)	p.T55A(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(163-165)Acg>Gcg		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala	False	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.T55A	NM_181688.1	NP_859016.1	WXS	Illumina HiSeq	Phase_I	P60014	KR10A_HUMAN			1	225	+			55			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	0	NM_181688		21:46057497
KALRN	8997	broad.mit.edu	37	3	124385955	124385955	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:124385955G>A	ENST00000291478.5	+	14	1697	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000428018.2_Missense_Mutation_p.A480T|KALRN_ENST00000360013.3_Missense_Mutation_p.A2209T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2208					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						TCTGCAAGCCGCCAACGCTGA	0.507																																						ENST00000291478.5		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.(1534-1536)Gcc>Acc		kalirin, RhoGEF kinase							94.0	89.0	91.0					3																	124385955		2203	4300	6503	SO:0001583	missense	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.chr3:124385955G>A	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	ENST00000291478.5:c.1534G>A	3.37:g.124385955G>A	ENSP00000291478:p.Ala512Thr	False	False		Somatic	0				KALRN_ENST00000459915.1_Missense_Mutation_p.A301T|KALRN_ENST00000428018.2_Missense_Mutation_p.A480T|KALRN_ENST00000393496.1_Missense_Mutation_p.A550T|KALRN_ENST00000360013.3_Missense_Mutation_p.A2209T	p.A512T	NM_007064.3	NP_008995.2	WXS	Illumina HiSeq	Phase_I	O60229	KALRN_HUMAN			14	1697	+			NA					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.1534G>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274682	0.59649	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.12	5.12	0.69794	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.31752	0.955	0.42745	D	0.993751	B;P;P;P	0.44309	0.011;0.757;0.492;0.832	B;B;B;B	0.24541	0.003;0.025;0.023;0.054	T	0.07731	-1.0757	10	0.44086	T	0.13	.	18.7483	0.91802	0.0:0.0:1.0:0.0	.	301;512;550;2208	E7EUZ8;C9JQ37;O60229-5;O60229	.;.;.;KALRN_HUMAN	T	2209;550;512;480;301	ENSP00000353109:A2209T;ENSP00000377134:A550T;ENSP00000291478:A512T;ENSP00000402419:A480T;ENSP00000420318:A301T	ENSP00000291478:A512T	A	+	1	0	KALRN	125868645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.522000	0.81844	2.665000	0.90641	0.462000	0.41574	GCC		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	0	NM_003947		3:124385955
BMP1	649	broad.mit.edu	37	8	22037986	22037986	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:22037986C>A	ENST00000306385.5	+	8	1737	c.1067C>A	c.(1066-1068)cCc>cAc	p.P356H	BMP1_ENST00000397816.3_Missense_Mutation_p.P356H|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCTGTCACACCCGGGGAGAAG	0.612																																						ENST00000306385.5		NA																	0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1066-1068)cCc>cAc		bone morphogenetic protein 1							167.0	143.0	151.0					8																	22037986		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037986C>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1067C>A	8.37:g.22037986C>A	ENSP00000305714:p.Pro356His	True	False		Somatic	0				BMP1_ENST00000397814.3_Missense_Mutation_p.P356H|BMP1_ENST00000306349.8_Missense_Mutation_p.P356H|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P356H	p.P356H	NM_006129.4	NP_006120.1	WXS	Illumina HiSeq	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1737	+			356			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1067C>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561849	0.65538	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.66	5.66	0.87406	CUB (5);	0.000000	0.38272	U	0.001746	T	0.45637	0.1352	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.964;0.969	D;D;P;P	0.97110	0.986;1.0;0.864;0.752	T	0.11060	-1.0603	10	0.37606	T	0.19	.	18.5112	0.90917	0.0:1.0:0.0:0.0	.	356;429;356;356	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	H	356	ENSP00000305714:P356H;ENSP00000380917:P356H;ENSP00000306121:P356H;ENSP00000380915:P356H	ENSP00000306121:P356H	P	+	2	0	BMP1	22093931	1.000000	0.71417	0.727000	0.30756	0.525000	0.34531	7.772000	0.85439	2.665000	0.90641	0.561000	0.74099	CCC		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	NM_006132		8:22037986
CLCN4	1183	broad.mit.edu	37	X	10188809	10188809	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:10188809G>A	ENST00000380833.4	+	12	2475	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H|CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	695					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCTGCGGCGCATCCTGAAC	0.592																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2083-2085)cGc>cAc		chloride channel, voltage-sensitive 4							142.0	114.0	123.0					X																	10188809		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188809G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2084G>A	X.37:g.10188809G>A	ENSP00000370213:p.Arg695His	False	False		Somatic	0				CLCN4_ENST00000380829.1_Missense_Mutation_p.R664H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R601H	p.R695H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	WXS	Illumina HiSeq	Phase_I	P51793	CLCN4_HUMAN			12	2475	+			695					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.2084G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	15.93	2.979220	0.53827	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93604	-3.25;-3.25;-3.25	5.36	5.36	0.76844	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	N	0.17674	0.51	0.80722	D	1	B	0.15719	0.014	B	0.13407	0.009	D	0.83394	0.0019	10	0.18276	T	0.48	-31.0777	18.267	0.90055	0.0:0.0:1.0:0.0	.	695	P51793	CLCN4_HUMAN	H	695;664;601	ENSP00000370213:R695H;ENSP00000370209:R664H;ENSP00000405754:R601H	ENSP00000370209:R664H	R	+	2	0	CLCN4	10148809	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	5.378000	0.66190	2.253000	0.74438	0.591000	0.81541	CGC		0.592	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1	0			X:10188809
ZIM2	23619	broad.mit.edu	37	19	57335649	57335649	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:57335649C>A	ENST00000391708.3	-	0	539				PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000598410.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame|PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGTACATCTCCTTGTAATTCT	0.547																																						ENST00000598410.1		NA																	0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170								paternally expressed 3							111.0	97.0	102.0					19																	57335649		2203	4300	6503			5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335649C>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.-4G>T	19.37:g.57335649C>A		False	False		Somatic	0				ZIM2_ENST00000601070.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593931.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000221722.5_De_novo_Start_OutOfFrame|PEG3_ENST00000423103.2_Missense_Mutation_p.K125N|ZIM2_ENST00000599935.1_De_novo_Start_OutOfFrame|PEG3_ENST00000326441.9_Missense_Mutation_p.K125N|PEG3_ENST00000593695.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000593711.1_De_novo_Start_OutOfFrame|ZIM2_ENST00000391708.3_De_novo_Start_OutOfFrame		NM_001146185.1|NM_001146187.1	NP_001139657.1|NP_001139659.1	WXS	Illumina HiSeq	Phase_I	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	0	378	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	NA					Q2M3K1	Translation_Start_Site	SNP	ENST00000391708.3	37		CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	9.895	1.205252	0.22205	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.04317	3.65;3.65	4.18	-3.28	0.05033	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.710048	0.12221	N	0.488381	T	0.02012	0.0063	N	0.08118	0	.	.	.	B;B	0.21905	0.032;0.062	B;B	0.23018	0.043;0.043	T	0.42666	-0.9438	9	0.72032	D	0.01	-7.7048	0.944	0.01361	0.1571:0.3297:0.1546:0.3585	.	125;58	Q9GZU2;Q96Q96	PEG3_HUMAN;.	N	125	ENSP00000326581:K125N;ENSP00000403051:K125N	ENSP00000292074:K125N	K	-	3	2	ZIM2	62027461	0.000000	0.05858	0.000000	0.03702	0.405000	0.30901	-0.287000	0.08388	-0.404000	0.07610	-0.142000	0.14014	AAG		0.547	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2	0			19:57335649
SNCAIP	9627	broad.mit.edu	37	5	121786604	121786604	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:121786604C>T	ENST00000261368.8	+	10	2324	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P735S|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|CTC-210G5.1_ENST00000506053.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	688					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTCTGAGGACCCCAAGACTAC	0.547																																						ENST00000261367.7		NA																	0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(2203-2205)Ccc>Tcc		synuclein, alpha interacting protein							55.0	55.0	55.0					5																	121786604		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786604C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2062C>T	5.37:g.121786604C>T	ENSP00000261368:p.Pro688Ser	True	False		Somatic	0				CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P322S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P246S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P628S|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P290S|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P688S|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P735S|CTC-210G5.1_ENST00000506053.1_RNA	p.P735S			WXS	Illumina HiSeq	Phase_I	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	12	3631	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	688					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.2203C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805916	0.70682	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.12465	4.49;5.02;2.73;2.68;5.02;4.99;2.68;4.71	6.06	6.06	0.98353	.	0.332317	0.35436	N	0.003205	T	0.15825	0.0381	L	0.29908	0.895	0.34659	D	0.72249	B;B;B;B;B;B;B;B	0.32467	0.208;0.354;0.208;0.241;0.312;0.372;0.372;0.156	B;B;B;B;B;B;B;B	0.35550	0.101;0.138;0.101;0.058;0.205;0.058;0.114;0.026	T	0.07731	-1.0757	10	0.56958	D	0.05	-24.3293	20.6208	0.99490	0.0:1.0:0.0:0.0	.	628;316;290;628;322;322;735;688	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	S	246;628;688;735;628;322;735;290;328	ENSP00000441681:P246S;ENSP00000422106:P628S;ENSP00000261368:P688S;ENSP00000368848:P735S;ENSP00000368851:P628S;ENSP00000368854:P322S;ENSP00000261367:P735S;ENSP00000394392:P290S	ENSP00000261367:P735S	P	+	1	0	SNCAIP	121814503	0.992000	0.36948	1.000000	0.80357	0.900000	0.52787	2.147000	0.42226	2.882000	0.98803	0.655000	0.94253	CCC		0.547	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	0			5:121786604
PPFIA2	8499	broad.mit.edu	37	12	81769706	81769706	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:81769706C>G	ENST00000549396.1	-	10	1160	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E334Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	334	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCATATCTTCCTTTTGTGCC	0.308																																						ENST00000550584.2		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1000-1002)Gaa>Caa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							174.0	159.0	163.0					12																	81769706		1855	4130	5985	SO:0001583	missense	8499							g.chr12:81769706C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1000G>C	12.37:g.81769706C>G	ENSP00000450337:p.Glu334Gln	False	False		Somatic	0				PPFIA2_ENST00000407050.4_Missense_Mutation_p.E260Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E181Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E316Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E235Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E334Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E316Q	p.E334Q	NM_001220473.1	NP_001207402.1	WXS	Illumina HiSeq	Phase_I	B7Z663	B7Z663_HUMAN			9	1295	-			260					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1000G>C	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.853780|4.853780	0.91355|0.91355	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000548790	T;T;T;T;T;T;T|.	0.78246|.	1.25;1.25;1.25;-1.16;1.25;1.25;1.25|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76730|0.76730	0.4028|0.4028	M|M	0.73430|0.73430	2.235|2.235	0.80722|0.80722	D|D	1|1	D;P|.	0.61080|.	0.989;0.9|.	D;B|.	0.72982|.	0.979;0.38|.	T|T	0.76369|0.76369	-0.2984|-0.2984	10|5	0.52906|.	T|.	0.07|.	-17.607|-17.607	19.0352|19.0352	0.92974|0.92974	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	234;334|.	B7Z4H8;O75334|.	.;LIPA2_HUMAN|.	Q|S	334;316;260;345;316;334;235;334|151	ENSP00000450337:E334Q;ENSP00000450298:E316Q;ENSP00000385093:E260Q;ENSP00000327416:E316Q;ENSP00000449338:E334Q;ENSP00000388373:E235Q;ENSP00000447868:E334Q|.	ENSP00000327416:E316Q|.	E|R	-|-	1|3	0|2	PPFIA2|PPFIA2	80293837|80293837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.765000|7.765000	0.85310|0.85310	2.567000|2.567000	0.86603|0.86603	0.650000|0.650000	0.86243|0.86243	GAA|AGG		0.308	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	0			12:81769706
NIPAL3	57185	broad.mit.edu	37	1	24782657	24782657	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:24782657G>A	ENST00000374399.4	+	8	1035	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	NIPAL3_ENST00000003912.3_Missense_Mutation_p.V141M|NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	223						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AGTCAAGGCCGTGGCTGGGAT	0.557																																						ENST00000003912.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(421-423)Gtg>Atg		NIPA-like domain containing 3							386.0	351.0	363.0					1																	24782657		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24782657G>A	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.667G>A	1.37:g.24782657G>A	ENSP00000363520:p.Val223Met	False	False		Somatic	0				NIPAL3_ENST00000339255.2_Missense_Mutation_p.V223M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.V223M	p.V141M			WXS	Illumina HiSeq	Phase_I	Q6P499	NPAL3_HUMAN			9	1136	+			223					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.421G>A	CCDS30631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.938783|3.938783	0.73557|0.73557	.|.	.|.	ENSG00000001461|ENSG00000001461	ENST00000432012|ENST00000374399;ENST00000003912;ENST00000339255	.|D;D;D	.|0.91792	.|-2.91;-2.91;-2.91	5.79|5.79	4.87|4.87	0.63330|0.63330	.|.	.|0.107041	.|0.64402	.|D	.|0.000006	D|D	0.95953|0.95953	0.8682|0.8682	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.66351	.|0.923;0.943	D|D	0.95952|0.95952	0.8955|0.8955	5|10	.|0.62326	.|D	.|0.03	-32.0797|-32.0797	14.3693|14.3693	0.66828|0.66828	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	.|223;223	.|Q6P499;A6NN97	.|NPAL3_HUMAN;.	H|M	1|223;141;223	.|ENSP00000363520:V223M;ENSP00000003912:V141M;ENSP00000343549:V223M	.|ENSP00000003912:V141M	R|V	+|+	2|1	0|0	NIPAL3|NIPAL3	24655244|24655244	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.732000|0.732000	0.41865|0.41865	5.124000|5.124000	0.64709|0.64709	2.745000|2.745000	0.94114|0.94114	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.557	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	0	NM_020448		1:24782657
OTOGL	283310	broad.mit.edu	37	12	80651774	80651774	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:80651774T>A	ENST00000547103.1	+	17	1860	c.1854T>A	c.(1852-1854)gaT>gaA	p.D618E	OTOGL_ENST00000458043.2_Missense_Mutation_p.D618E			Q3ZCN5	OTOGL_HUMAN	otogelin-like	618	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACATAAGGGATGATTTTCTGT	0.308																																						ENST00000458043.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1852-1854)gaT>gaA		otogelin-like							135.0	133.0	133.0					12																	80651774		1861	4090	5951	SO:0001583	missense	283310							g.chr12:80651774T>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1854T>A	12.37:g.80651774T>A	ENSP00000447211:p.Asp618Glu	False	False		Somatic	0				OTOGL_ENST00000547103.1_Missense_Mutation_p.D618E	p.D618E	NM_173591.3	NP_775862.3	WXS	Illumina HiSeq	Phase_I					17	1860	+			NA					F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1854T>A		.	.	.	.	.	.	.	.	.	.	T	21.0	4.078578	0.76528	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.65364	-0.15;-0.15	5.54	3.21	0.36854	.	.	.	.	.	D	0.84065	0.5390	H	0.97918	4.105	0.51767	D	0.999938	.	.	.	.	.	.	D	0.86287	0.1671	7	0.87932	D	0	.	9.3717	0.38258	0.0:0.1444:0.0:0.8556	.	.	.	.	E	618	ENSP00000447211:D618E;ENSP00000400895:D618E	ENSP00000400895:D618E	D	+	3	2	OTOGL	79175905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.562000	0.45914	0.944000	0.37579	0.533000	0.62120	GAT		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	0	NM_173591		12:80651774
EEF2	1938	broad.mit.edu	37	19	3976682	3976682	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:3976682T>A	ENST00000309311.6	-	15	2535	c.2447A>T	c.(2446-2448)cAc>cTc	p.H816L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	816					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GATCTGCCAGTGGTCAAACAC	0.657																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6		NA																	0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2446-2448)cAc>cTc		eukaryotic translation elongation factor 2							32.0	29.0	30.0					19																	3976682		2200	4299	6499	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3976682T>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.2447A>T	19.37:g.3976682T>A	ENSP00000307940:p.His816Leu	False	False		Somatic	0					p.H816L	NM_001961.3	NP_001952.1	WXS	Illumina HiSeq	Phase_I	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2535	-		Hepatocellular(1079;0.137)	816					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.2447A>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780856	0.90195	.	.	ENSG00000167658	ENST00000309311	T	0.64991	-0.13	5.5	4.48	0.54585	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	H	0.99890	4.9	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.90917	0.4780	10	0.87932	D	0	-51.5156	11.2148	0.48819	0.1372:0.0:0.0:0.8628	.	816	P13639	EF2_HUMAN	L	816	ENSP00000307940:H816L	ENSP00000307940:H816L	H	-	2	0	EEF2	3927682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.003000	0.70701	0.899000	0.36444	0.529000	0.55759	CAC		0.657	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	0	NM_001961		19:3976682
PDE4C	5143	broad.mit.edu	37	19	18331319	18331319	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:18331319G>A	ENST00000355502.3	-	10	1473	c.602C>T	c.(601-603)aCg>aTg	p.T201M	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|PDE4C_ENST00000539010.1_De_novo_Start_InFrame			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	201					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTTCTGCCCCGTGTCCTCTGG	0.657																																						ENST00000355502.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(601-603)aCg>aTg		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						66.0	48.0	54.0					19																	18331319		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331319G>A		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.602C>T	19.37:g.18331319G>A	ENSP00000347689:p.Thr201Met	True	False		Somatic	0				PDE4C_ENST00000539010.1_De_novo_Start_InFrame|PDE4C_ENST00000262805.12_Missense_Mutation_p.T169M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T201M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T95M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594617.3_Missense_Mutation_p.T201M|PDE4C_ENST00000597297.1_Intron	p.T201M			WXS	Illumina HiSeq	Phase_I	Q08493	PDE4C_HUMAN			10	1473	-			201					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.602C>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513874	0.44763	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.70986	-0.53;-0.52;-0.51	4.2	3.13	0.36017	.	0.547115	0.18791	N	0.131041	T	0.72622	0.3483	M	0.62723	1.935	0.80722	D	1	D;B	0.57571	0.98;0.451	P;B	0.50192	0.634;0.103	T	0.73193	-0.4060	10	0.54805	T	0.06	.	11.2003	0.48736	0.0:0.0:0.8144:0.1855	.	201;169	Q08493;Q08493-3	PDE4C_HUMAN;.	M	280;201;189;169;95;310	ENSP00000347689:T201M;ENSP00000262805:T169M;ENSP00000402091:T95M	ENSP00000262805:T169M	T	-	2	0	PDE4C	18192319	0.897000	0.30589	0.985000	0.45067	0.925000	0.55904	4.944000	0.63561	0.870000	0.35726	-0.513000	0.04457	ACG		0.657	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1	0			19:18331319
PCDHA8	56140	broad.mit.edu	37	5	140223264	140223264	+	Silent	SNP	C	C	T	rs370299201		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:140223264C>T	ENST00000531613.1	+	1	2358	c.2358C>T	c.(2356-2358)ggC>ggT	p.G786G	PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	786	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATGTAGGCGAAGAGCAAG	0.448																																						ENST00000531613.1		NA																	0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2356-2358)ggC>ggT									54.0	55.0	55.0					5																	140223264		2196	4263	6459	SO:0001819	synonymous_variant	0							g.chr5:140223264C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2358C>T	5.37:g.140223264C>T		False	False		Somatic	0				PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G786G|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	p.G786G	NM_018911.2	NP_061734.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2358	+			NA					B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.2358C>T	CCDS54919.1																																																																																				0.448	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	0	NM_018911		5:140223264
FATE1	89885	broad.mit.edu	37	X	150890398	150890398	+	Missense_Mutation	SNP	C	C	T	rs144817068		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:150890398C>T	ENST00000370350.3	+	4	450	c.365C>T	c.(364-366)gCg>gTg	p.A122V		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	122						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGTGGCGCAGACTAGC	0.547																																						ENST00000370350.3		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.(364-366)gCg>gTg		fetal and adult testis expressed 1		C	VAL/ALA	0,3835		0,0,1632,571	185.0	169.0	174.0		365	2.5	0.0	X	dbSNP_134	174	1,6727		0,1,2427,1872	yes	missense	FATE1	NM_033085.2	64	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging	122/184	150890398	1,10562	2203	4300	6503	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150890398C>T	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.365C>T	X.37:g.150890398C>T	ENSP00000359375:p.Ala122Val	False	False		Somatic	0					p.A122V	NM_033085.2	NP_149076.1	WXS	Illumina HiSeq	Phase_I	Q969F0	FATE1_HUMAN			4	450	+	Acute lymphoblastic leukemia(192;6.56e-05)		122						Missense_Mutation	SNP	ENST00000370350.3	37	c.365C>T	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913166	0.52439	0.0	1.49E-4	ENSG00000147378	ENST00000370350	T	0.46819	0.86	4.34	2.54	0.30619	.	0.652461	0.13509	N	0.382674	T	0.23572	0.0570	L	0.32530	0.975	0.09310	N	1	P	0.52061	0.95	B	0.35688	0.208	T	0.16719	-1.0393	10	0.02654	T	1	-3.6056	5.2887	0.15716	0.0:0.7368:0.0:0.2632	.	122	Q969F0	FATE1_HUMAN	V	122	ENSP00000359375:A122V	ENSP00000359375:A122V	A	+	2	0	FATE1	150641054	0.006000	0.16342	0.003000	0.11579	0.002000	0.02628	1.136000	0.31467	0.968000	0.38212	0.529000	0.55759	GCG		0.547	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	0	NM_033085		X:150890398
MREG	55686	broad.mit.edu	37	2	216861118	216861118	+	Missense_Mutation	SNP	G	G	A	rs368256699		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:216861118G>A	ENST00000263268.6	-	2	461	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	56						plasma membrane (GO:0005886)				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		ACATCATGGGGCATACTCCAT	0.438																																						ENST00000263268.6		NA																	0				large_intestine(1)|lung(2)	3						c.(166-168)Ccc>Tcc		melanoregulin							133.0	131.0	131.0					2																	216861118		1902	4128	6030	SO:0001583	missense	55686					apical plasma membrane		g.chr2:216861118G>A	AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.166C>T	2.37:g.216861118G>A	ENSP00000263268:p.Pro56Ser	True	False		Somatic	0					p.P56S	NM_018000.2	NP_060470.2	WXS	Illumina HiSeq	Phase_I	Q8N565	MREG_HUMAN		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)	2	461	-		Renal(323;0.0328)	56					Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	ENST00000263268.6	37	c.166C>T	CCDS46513.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445649	0.84101	.	.	ENSG00000118242	ENST00000236976;ENST00000263268;ENST00000439791;ENST00000424992;ENST00000420348	T	0.57595	0.39	5.3	5.3	0.74995	.	0.053672	0.85682	D	0.000000	T	0.69602	0.3129	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71388	-0.4608	10	0.87932	D	0	-15.281	16.501	0.84256	0.0:0.0:1.0:0.0	.	56	Q8N565	MREG_HUMAN	S	56;56;2;2;2	ENSP00000263268:P56S	ENSP00000236976:P56S	P	-	1	0	MREG	216569363	1.000000	0.71417	0.943000	0.38184	0.969000	0.65631	5.223000	0.65283	2.759000	0.94783	0.557000	0.71058	CCC		0.438	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337297.1	0	NM_018000		2:216861118
SYNRG	11276	broad.mit.edu	37	17	35960421	35960421	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:35960421C>G	ENST00000339208.6	-	2	247	c.107G>C	c.(106-108)aGa>aCa	p.R36T	SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T|SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	36					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGAGGGGGTCTTATCCCACC	0.308																																						ENST00000339208.6		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(106-108)aGa>aCa		synergin, gamma							49.0	49.0	49.0					17																	35960421		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35960421C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.107G>C	17.37:g.35960421C>G	ENSP00000343610:p.Arg36Thr	False	False		Somatic	0				SYNRG_ENST00000345615.4_Missense_Mutation_p.R36T|SYNRG_ENST00000591288.1_Missense_Mutation_p.R36T|SYNRG_ENST00000394378.2_Missense_Mutation_p.R36T|SYNRG_ENST00000585472.1_Missense_Mutation_p.R36T|SYNRG_ENST00000502449.2_Missense_Mutation_p.R36T|SYNRG_ENST00000346661.4_Missense_Mutation_p.R36T	p.R36T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina HiSeq	Phase_I	Q9UMZ2	SYNRG_HUMAN			2	247	-			36					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.107G>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098767	0.56183	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378;ENST00000394379	T;T;T;T;T	0.46451	1.46;1.46;0.87;0.87;0.87	5.4	5.4	0.78164	.	0.171371	0.51477	D	0.000087	T	0.36635	0.0974	L	0.44542	1.39	0.38571	D	0.949948	P;B;B;P;B;B;P	0.41265	0.578;0.435;0.435;0.578;0.435;0.435;0.744	B;B;B;B;B;B;B	0.38842	0.283;0.157;0.157;0.157;0.157;0.283;0.21	T	0.23511	-1.0186	10	0.31617	T	0.26	-22.8269	15.0288	0.71691	0.0:1.0:0.0:0.0	.	36;36;36;36;36;36;36	A8MYE0;B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;.;SYNRG_HUMAN	T	36	ENSP00000005279:R36T;ENSP00000343610:R36T;ENSP00000315722:R36T;ENSP00000424893:R36T;ENSP00000377903:R36T	ENSP00000343610:R36T	R	-	2	0	SYNRG	33034534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.329000	0.65892	2.693000	0.91896	0.650000	0.86243	AGA		0.308	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	0	NM_007247		17:35960421
EEPD1	80820	broad.mit.edu	37	7	36194002	36194002	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr7:36194002G>C	ENST00000242108.4	+	2	787	c.69G>C	c.(67-69)aaG>aaC	p.K23N	EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	23					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATAGCCGCAAGTTCAGCGCAG	0.632																																						ENST00000242108.4		NA																	0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(67-69)aaG>aaC		endonuclease/exonuclease/phosphatase family domain containing 1							76.0	72.0	73.0					7																	36194002		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194002G>C	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.69G>C	7.37:g.36194002G>C	ENSP00000242108:p.Lys23Asn	False	False		Somatic	0				EEPD1_ENST00000534978.1_Missense_Mutation_p.K23N	p.K23N	NM_030636.2	NP_085139.2	WXS	Illumina HiSeq	Phase_I	Q7L9B9	EEPD1_HUMAN			2	787	+			23					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.69G>C	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466389	0.63625	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.25250	1.81;1.81	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	L	0.27053	0.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.10660	-1.0620	10	0.49607	T	0.09	-36.8743	10.72	0.46034	0.1452:0.0:0.8548:0.0	.	23	Q7L9B9	EEPD1_HUMAN	N	23	ENSP00000242108:K23N;ENSP00000442692:K23N	ENSP00000242108:K23N	K	+	3	2	EEPD1	36160527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.540000	0.45727	1.403000	0.46800	0.561000	0.74099	AAG		0.632	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	0	NM_030636		7:36194002
APBA2	321	broad.mit.edu	37	15	29347038	29347038	+	Splice_Site	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:29347038G>T	ENST00000558402.1	+	5	1550	c.951G>T	c.(949-951)caG>caT	p.Q317H	APBA2_ENST00000558330.1_Splice_Site_p.Q317H|APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000561069.1_Splice_Site_p.Q317H			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	317					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCACGAGCAGGTAGGACCCT	0.657																																						ENST00000558402.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(949-951)caG>caT		amyloid beta (A4) precursor protein-binding, family A, member 2							12.0	15.0	14.0					15																	29347038		2168	4226	6394	SO:0001630	splice_region_variant	321				nervous system development|protein transport		protein binding	g.chr15:29347038G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.951+1G>T	15.37:g.29347038G>T		False	False		Somatic	0				APBA2_ENST00000411764.1_Splice_Site_p.Q317H|APBA2_ENST00000558330.1_Splice_Site_p.Q317H|APBA2_ENST00000558259.1_Splice_Site_p.Q317H|APBA2_ENST00000561069.1_Splice_Site_p.Q317H	p.Q317H			WXS	Illumina HiSeq	Phase_I	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1550	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	317					E9PGI4|O60571|Q5XKC0	Splice_Site	SNP	ENST00000558402.1	37	c.951G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044513	0.36085	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.31247	1.5	5.24	5.24	0.73138	.	0.130714	0.51477	D	0.000095	T	0.37046	0.0989	M	0.65975	2.015	0.58432	D	0.999999	P;P;P	0.43662	0.814;0.668;0.814	B;B;B	0.40477	0.33;0.186;0.33	T	0.29731	-1.0002	10	0.46703	T	0.11	.	17.8166	0.88637	0.0:0.0:1.0:0.0	.	317;317;317	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	H	317	ENSP00000409312:Q317H	ENSP00000219865:Q317H	Q	+	3	2	APBA2	27134330	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.205000	0.77881	2.422000	0.82143	0.650000	0.86243	CAG		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	0	NM_005503	Missense_Mutation	15:29347038
FZD10	11211	broad.mit.edu	37	12	130648664	130648664	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:130648664G>A	ENST00000229030.4	+	1	1661	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R360H			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	393					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A393S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACGTCAACGCGCTCACCGG	0.657																																						ENST00000539839.1		NA																	1	Substitution - Missense(1)	p.A393S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1078-1080)cGc>cAc		frizzled family receptor 10							119.0	108.0	112.0					12																	130648664		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648664G>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1177G>A	12.37:g.130648664G>A	ENSP00000229030:p.Ala393Thr	False	False		Somatic	0				FZD10_ENST00000229030.4_Missense_Mutation_p.A393T	p.R360H	NM_007197.3	NP_009128.1	WXS	Illumina HiSeq	Phase_I	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1661	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1079G>A	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.790730|2.790730	0.50102|0.50102	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	D|.	0.82526|.	-1.62|.	5.21|5.21	5.21|5.21	0.72293|0.72293	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.82549|0.82549	0.5061|0.5061	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.72982|.	0.979|.	D|D	0.85526|0.85526	0.1206|0.1206	10|6	0.48119|0.87932	T|D	0.1|0	.|.	18.7539|18.7539	0.91825|0.91825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393|.	Q9ULW2|.	FZD10_HUMAN|.	T|H	393|360	ENSP00000229030:A393T|.	ENSP00000229030:A393T|ENSP00000438460:R360H	A|R	+|+	1|2	0|0	FZD10|FZD10	129214617|129214617	1.000000|1.000000	0.71417|0.71417	0.223000|0.223000	0.23860|0.23860	0.980000|0.980000	0.70556|0.70556	9.643000|9.643000	0.98464|0.98464	2.432000|2.432000	0.82394|0.82394	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			12:130648664
ZNF500	26048	broad.mit.edu	37	16	4815918	4815918	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:4815918T>A	ENST00000219478.6	-	2	361	c.62A>T	c.(61-63)gAg>gTg	p.E21V	ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V			O60304	ZN500_HUMAN	zinc finger protein 500	21					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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATCAGGATCTCTTCCTGTTC	0.602																																						ENST00000219478.6		NA																	0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(61-63)gAg>gTg		zinc finger protein 500							65.0	58.0	60.0					16																	4815918		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4815918T>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.62A>T	16.37:g.4815918T>A	ENSP00000219478:p.Glu21Val	False	False		Somatic	0				ZNF500_ENST00000545009.1_Missense_Mutation_p.E21V	p.E21V			WXS	Illumina HiSeq	Phase_I	O60304	ZN500_HUMAN			2	361	-			21					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.62A>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357740	0.41801	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07688	3.25;3.17	4.32	3.22	0.36961	.	.	.	.	.	T	0.15176	0.0366	M	0.80982	2.52	0.24263	N	0.995279	P;P	0.52316	0.952;0.952	P;P	0.45998	0.5;0.5	T	0.15435	-1.0437	9	0.72032	D	0.01	.	6.5932	0.22658	0.0:0.1129:0.0:0.8871	.	21;21	B4DNN9;O60304	.;ZN500_HUMAN	V	21	ENSP00000445714:E21V;ENSP00000219478:E21V	ENSP00000219478:E21V	E	-	2	0	ZNF500	4755919	0.130000	0.22417	0.709000	0.30452	0.828000	0.46876	0.360000	0.20250	0.540000	0.28808	0.533000	0.62120	GAG		0.602	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	0	XM_085507		16:4815918
FAM13B	51306	broad.mit.edu	37	5	137288332	137288332	+	Missense_Mutation	SNP	G	G	A	rs375616241		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr5:137288332G>A	ENST00000033079.3	-	16	2300	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	617					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						ATTTGCTTCCGCAGTTTTGTA	0.313																																						ENST00000033079.3		NA																	0				endometrium(4)|kidney(2)|lung(5)	11						c.(1849-1851)Cgg>Tgg		family with sequence similarity 13, member B		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	108.0	106.0		1849,1561,1849	3.9	1.0	5		106	0,8600		0,0,4300	no	missense,missense,missense	FAM13B	NM_001101800.1,NM_001101801.1,NM_016603.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	617/888,521/792,617/916	137288332	1,13005	2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137288332G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1849C>T	5.37:g.137288332G>A	ENSP00000033079:p.Arg617Trp	False	False		Somatic	0				FAM13B_ENST00000425075.2_Missense_Mutation_p.R521W|FAM13B_ENST00000420893.2_Missense_Mutation_p.R617W	p.R617W	NM_016603.2	NP_057687.2	WXS	Illumina HiSeq	Phase_I	Q9NYF5	FA13B_HUMAN			16	2300	-			617					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1849C>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871297	0.72065	2.27E-4	0.0	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95788	-3.81;0.71;-3.81	5.92	3.94	0.45596	.	0.055638	0.64402	D	0.000002	D	0.97356	0.9135	M	0.82517	2.595	0.51482	D	0.999926	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73708	0.981;0.928;0.957	D	0.97740	1.0208	10	0.87932	D	0	-6.3967	12.1708	0.54157	0.0:0.0:0.4451:0.5549	.	521;617;617	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	W	617;521;617	ENSP00000033079:R617W;ENSP00000394669:R521W;ENSP00000388521:R617W	ENSP00000033079:R617W	R	-	1	2	FAM13B	137316231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.782000	0.55401	1.460000	0.47911	0.557000	0.71058	CGG		0.313	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	0			5:137288332
METTL25	84190	broad.mit.edu	37	12	82752352	82752352	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:82752352C>T	ENST00000248306.3	+	1	77	c.8C>T	c.(7-9)gCt>gTt	p.A3V	CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000548126.1_Intron	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	3							methyltransferase activity (GO:0008168)										GTCATGGCGGCTTCTTGCCCT	0.637											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248306.3		NA																	0					NA						c.(7-9)gCt>gTt		methyltransferase like 25							36.0	32.0	34.0					12																	82752352		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82752352C>T	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.8C>T	12.37:g.82752352C>T	ENSP00000248306:p.Ala3Val	False	False		Somatic	0	OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1216	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	p.A3V	NM_032230.2	NP_115606.2	WXS	Illumina HiSeq	Phase_I					1	77	+			NA					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.8C>T	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650798	0.67472	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.34472	1.36	5.22	5.22	0.72569	.	0.309791	0.30859	N	0.008727	T	0.42966	0.1226	M	0.77616	2.38	0.32731	N	0.509011	B	0.30793	0.295	B	0.32211	0.142	T	0.59209	-0.7497	10	0.54805	T	0.06	-8.6604	14.2838	0.66232	0.0:1.0:0.0:0.0	.	3	Q8N6Q8	CL026_HUMAN	V	3	ENSP00000248306:A3V	ENSP00000248306:A3V	A	+	2	0	C12orf26	81276483	0.824000	0.29247	0.929000	0.37066	0.134000	0.20937	1.580000	0.36547	2.436000	0.82500	0.650000	0.86243	GCT		0.637	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	0	NM_032230		12:82752352
PLEKHM3	389072	broad.mit.edu	37	2	208842157	208842157	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:208842157G>A	ENST00000427836.2	-	3	1253	c.764C>T	c.(763-765)gCc>gTc	p.A255V	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	255	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.A255V(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGTACGTGGCATAAAGGTT	0.448																																						ENST00000457206.1		NA																	2	Substitution - Missense(2)	p.A255V(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(763-765)gCc>gTc		pleckstrin homology domain containing, family M, member 3							197.0	192.0	194.0					2																	208842157		1980	4174	6154	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208842157G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.764C>T	2.37:g.208842157G>A	ENSP00000417003:p.Ala255Val	False	False		Somatic	0				PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A255V|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A255V	p.A255V			WXS	Illumina HiSeq	Phase_I	Q6ZWE6	PKHM3_HUMAN			3	1191	-			255			PH 1.		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.764C>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363231	0.41902	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	T;T;T	0.29655	1.56;1.56;1.56	5.96	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.265266	0.36740	N	0.002437	T	0.20700	0.0498	N	0.19112	0.55	0.35452	D	0.795766	B;B	0.32573	0.376;0.1	B;B	0.26770	0.073;0.036	T	0.24977	-1.0145	10	0.59425	D	0.04	-18.8129	14.2231	0.65841	0.0:0.0:0.7279:0.2721	.	255;255	C9J119;Q6ZWE6	.;PKHM3_HUMAN	V	255	ENSP00000417003:A255V;ENSP00000373899:A255V;ENSP00000400150:A255V	ENSP00000373899:A255V	A	-	2	0	PLEKHM3	208550402	1.000000	0.71417	0.996000	0.52242	0.617000	0.37484	4.284000	0.58983	1.516000	0.48900	0.655000	0.94253	GCC		0.448	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	0	NM_001080475		2:208842157
PRRC2B	84726	broad.mit.edu	37	9	134351251	134351251	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:134351251C>T	ENST00000357304.4	+	15	3790	c.3735C>T	c.(3733-3735)tgC>tgT	p.C1245C	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1245							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCGACACATGCGGATCCCGGC	0.592											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357304.4		NA																	0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3733-3735)tgC>tgT		proline-rich coiled-coil 2B							40.0	44.0	43.0					9																	134351251		2073	4214	6287	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134351251C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3735C>T	9.37:g.134351251C>T		False	False		Somatic	0	OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	p.C1245C	NM_013318.3	NP_037450.2	WXS	Illumina HiSeq	Phase_I	Q5JSZ5	PRC2B_HUMAN			15	3790	+			1245					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3735C>T	CCDS48044.1																																																																																				0.592	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:134351251
NWD1	284434	broad.mit.edu	37	19	16884049	16884049	+	Silent	SNP	C	C	T	rs144961672		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr19:16884049C>T	ENST00000552788.1	+	9	2523	c.2523C>T	c.(2521-2523)tgC>tgT	p.C841C	NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000524140.2_Silent_p.C841C|NWD1_ENST00000549814.1_Silent_p.C841C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	841							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTTGTGCGCACACCCTG	0.622													c|||	1	0.000199681	0.0	0.0	5008	,	,		17353	0.0		0.001	False		,,,				2504	0.0					ENST00000524140.2		NA																	0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2521-2523)tgC>tgT		NACHT and WD repeat domain containing 1				0,4406		0,0,2203	60.0	57.0	58.0		2523	-1.3	0.0	19	dbSNP_134	58	1,8597		0,1,4298	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		841/1433	16884049	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16884049C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2523C>T	19.37:g.16884049C>T		False	False		Somatic	0				NWD1_ENST00000549814.1_Silent_p.C841C|NWD1_ENST00000523826.1_Silent_p.C635C|NWD1_ENST00000339803.6_Silent_p.C706C|NWD1_ENST00000379808.3_Silent_p.C841C|NWD1_ENST00000552788.1_Silent_p.C841C	p.C841C	NM_001007525.3	NP_001007526.3	WXS	Illumina HiSeq	Phase_I	Q149M9	NWD1_HUMAN			11	2941	+			841					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2523C>T																																																																																					0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	0	NM_001007525		19:16884049
DCAF8L2	347442	broad.mit.edu	37	X	27766129	27766129	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:27766129A>G	ENST00000451261.2	+	5	1516	c.1117A>G	c.(1117-1119)Act>Gct	p.T373A		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	373										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GTATACAATTACTGTGAATCC	0.403																																						ENST00000451261.2		NA																	0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1117-1119)Act>Gct		DDB1 and CUL4 associated factor 8-like 2							122.0	87.0	98.0					X																	27766129		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766129A>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1117A>G	X.37:g.27766129A>G	ENSP00000462745:p.Thr373Ala	False	False		Somatic	0					p.T373A	NM_001136533.1	NP_001130005.1	WXS	Illumina HiSeq	Phase_I					5	1516	+			NA					B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1117A>G	CCDS59162.1																																																																																				0.403	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	0	XM_293354		X:27766129
MAGEB1	4112	broad.mit.edu	37	X	30269201	30269201	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:30269201G>A	ENST00000378981.3	+	4	912	c.591G>A	c.(589-591)agG>agA	p.R197R	MAGEB1_ENST00000397550.1_Silent_p.R197R|MAGEB1_ENST00000397548.2_Silent_p.R197R	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	197	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTTTCCCAGGAATGGGCTTC	0.488																																						ENST00000378981.3		NA																	0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(589-591)agG>agA		melanoma antigen family B, 1							86.0	64.0	72.0					X																	30269201		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269201G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.591G>A	X.37:g.30269201G>A		False	False		Somatic	0				MAGEB1_ENST00000397548.2_Silent_p.R197R|MAGEB1_ENST00000397550.1_Silent_p.R197R	p.R197R	NM_002363.4	NP_002354.2	WXS	Illumina HiSeq	Phase_I	P43366	MAGB1_HUMAN			4	912	+			197			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.591G>A	CCDS14222.1																																																																																				0.488	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	0	NM_002363		X:30269201
MAN1A1	4121	broad.mit.edu	37	6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3		NA																	1	Substitution - Missense(1)	p.R545W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1633-1635)Cgg>Tgg		mannosidase, alpha, class 1A, member 1							193.0	190.0	191.0					6																	119509656		2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119509656G>A	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1633C>T	6.37:g.119509656G>A	ENSP00000357453:p.Arg545Trp	False	False		Somatic	0					p.R545W	NM_005907.3	NP_005898.2	WXS	Illumina HiSeq	Phase_I	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2074	-		all_epithelial(87;0.173)	545					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1633C>T	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244459	0.79912	.	.	ENSG00000111885	ENST00000368468	D	0.83837	-1.77	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95608	0.8572	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97318	0.9942	10	0.87932	D	0	-28.3893	17.0826	0.86603	0.0:0.0:0.8481:0.1519	.	545	P33908	MA1A1_HUMAN	W	545	ENSP00000357453:R545W	ENSP00000357453:R545W	R	-	1	2	MAN1A1	119551355	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.615000	0.54167	2.794000	0.96219	0.650000	0.86243	CGG		0.413	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	0	NM_005907		6:119509656
PDXDC1	23042	broad.mit.edu	37	16	15116567	15116567	+	Missense_Mutation	SNP	C	C	T	rs541688833		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr16:15116567C>T	ENST00000396410.4	+	13	1193	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	RP11-680G24.5_ENST00000565178.1_RNA|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	366					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGAGTCAACGGTTGCAGGA	0.368																																						ENST00000396410.4		NA																	1	Substitution - Missense(1)	p.R366W(1)	lung(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cgg>Tgg		pyridoxal-dependent decarboxylase domain containing 1	Pyridoxal Phosphate(DB00114)						154.0	136.0	142.0					16																	15116567		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15116567C>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1096C>T	16.37:g.15116567C>T	ENSP00000379691:p.Arg366Trp	False	False		Somatic	0				PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W	p.R366W	NM_015027.2	NP_055842.2	WXS	Illumina HiSeq	Phase_I	Q6P996	PDXD1_HUMAN			13	1193	+			366					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.1096C>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292476	0.59976	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	4.96	1.5	0.22942	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.175291	0.49916	D	0.000131	T	0.50922	0.1644	L	0.60455	1.87	0.29252	N	0.871901	D;D;D;D;D;D	0.71674	0.994;0.994;0.998;0.994;0.994;0.998	P;P;P;P;P;P	0.57776	0.614;0.724;0.719;0.724;0.614;0.827	T	0.51482	-0.8700	10	0.39692	T	0.17	-20.2729	12.2124	0.54388	0.7045:0.2955:0.0:0.0	.	338;275;366;338;366;343	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	W	351;275;366;366;338;72;343	ENSP00000322807:R351W;ENSP00000400310:R275W;ENSP00000437835:R366W;ENSP00000379691:R366W;ENSP00000391147:R338W;ENSP00000406703:R343W	ENSP00000322807:R351W	R	+	1	2	PDXDC1	15024068	0.814000	0.29104	0.092000	0.20876	0.975000	0.68041	1.446000	0.35090	0.452000	0.26830	0.478000	0.44815	CGG		0.368	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	0	NM_015027		16:15116567
PLXNC1	10154	broad.mit.edu	37	12	94658986	94658986	+	Silent	SNP	G	G	T	rs545463488		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:94658986G>T	ENST00000258526.4	+	21	3831	c.3582G>T	c.(3580-3582)ccG>ccT	p.P1194P	PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1194					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCAGGTTCCGGAATTCAGTA	0.453																																						ENST00000258526.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3580-3582)ccG>ccT		plexin C1							143.0	153.0	149.0					12																	94658986		2203	4300	6503	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94658986G>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3582G>T	12.37:g.94658986G>T		False	False		Somatic	0				PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Silent_p.P241P	p.P1194P	NM_005761.2	NP_005752.1	WXS	Illumina HiSeq	Phase_I	O60486	PLXC1_HUMAN			21	3831	+			1194					Q59H25	Silent	SNP	ENST00000258526.4	37	c.3582G>T	CCDS9049.1																																																																																				0.453	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2	0			12:94658986
DERL1	79139	broad.mit.edu	37	8	124027758	124027758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:124027758G>A	ENST00000259512.4	-	8	985	c.685C>T	c.(685-687)Cga>Tga	p.R229*	DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*|DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	229					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAGCAGCTCGCCTCATGCTA	0.627																																						ENST00000259512.4		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8						c.(685-687)Cga>Tga		derlin 1							87.0	73.0	78.0					8																	124027758		2203	4300	6503	SO:0001587	stop_gained	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124027758G>A	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.685C>T	8.37:g.124027758G>A	ENSP00000259512:p.Arg229*	False	False		Somatic	0				DERL1_ENST00000523036.1_Nonsense_Mutation_p.R129*|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Nonsense_Mutation_p.R209*|DERL1_ENST00000519018.1_Nonsense_Mutation_p.R129*|DERL1_ENST00000419562.2_Nonsense_Mutation_p.R129*	p.R229*	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	WXS	Illumina HiSeq	Phase_I	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		8	985	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		229					B3KW41|E9PH19	Nonsense_Mutation	SNP	ENST00000259512.4	37	c.685C>T	CCDS6337.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943987	0.92593	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562;ENST00000519018;ENST00000523036	.	.	.	6.17	4.31	0.51392	.	0.060136	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.4856	0.50352	0.0:0.1048:0.6045:0.2906	.	.	.	.	X	229;209;129;129;129	.	ENSP00000259512:R229X	R	-	1	2	DERL1	124096939	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.468000	0.53086	1.590000	0.49995	0.655000	0.94253	CGA		0.627	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	0	NM_024295		8:124027758
GALNT2	2590	broad.mit.edu	37	1	230338964	230338964	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:230338964G>A	ENST00000366672.4	+	3	374	c.302G>A	c.(301-303)cGc>cAc	p.R101H	GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	101					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CCTTACGCCCGCAACAAGTTC	0.547																																						ENST00000366672.4		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(301-303)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							123.0	123.0	123.0					1																	230338964		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230338964G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.302G>A	1.37:g.230338964G>A	ENSP00000355632:p.Arg101His	True	False		Somatic	0				GALNT2_ENST00000541865.1_Missense_Mutation_p.R11H|GALNT2_ENST00000543760.1_Missense_Mutation_p.R63H	p.R101H	NM_004481.3	NP_004472.1	WXS	Illumina HiSeq	Phase_I	Q10471	GALT2_HUMAN			3	374	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	101					A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.302G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625072	0.96671	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.56611	0.45;0.45;1.05	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.55017	1.72	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60609	0.853;0.877	T	0.66862	-0.5816	10	0.56958	D	0.05	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	101;63	Q10471;G3V1S6	GALT2_HUMAN;.	H	63;101;11	ENSP00000445017:R63H;ENSP00000355632:R101H;ENSP00000444346:R11H	ENSP00000355632:R101H	R	+	2	0	GALNT2	228405587	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.792000	0.99085	2.826000	0.97356	0.655000	0.94253	CGC		0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	0	NM_004481		1:230338964
PI15	51050	broad.mit.edu	37	8	75761394	75761394	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr8:75761394C>A	ENST00000260113.2	+	6	862	c.683C>A	c.(682-684)cCa>cAa	p.P228Q	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.P228Q	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	228						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTAGGGGTACCATGTTCATCT	0.393																																						ENST00000260113.2		NA																	0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.(682-684)cCa>cAa		peptidase inhibitor 15							211.0	190.0	197.0					8																	75761394		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75761394C>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.683C>A	8.37:g.75761394C>A	ENSP00000260113:p.Pro228Gln	False	False		Somatic	0				PI15_ENST00000523773.1_Missense_Mutation_p.P228Q|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	p.P228Q	NM_015886.3	NP_056970.1	WXS	Illumina HiSeq	Phase_I	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		6	862	+	Breast(64;0.137)		228					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.683C>A	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692584	0.88735	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.11821	2.74;2.74	5.15	5.15	0.70609	CAP domain (1);	0.051987	0.85682	D	0.000000	T	0.48554	0.1506	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57533	-0.7795	10	0.62326	D	0.03	.	19.1672	0.93562	0.0:1.0:0.0:0.0	.	228	O43692	PI15_HUMAN	Q	228	ENSP00000260113:P228Q;ENSP00000428567:P228Q	ENSP00000260113:P228Q	P	+	2	0	PI15	75923949	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.278000	0.78587	2.833000	0.97629	0.585000	0.79938	CCA		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	0	NM_015886		8:75761394
PRDM13	59336	broad.mit.edu	37	6	100061933	100061933	+	Silent	SNP	G	G	A	rs377013141		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:100061933G>A	ENST00000369215.4	+	4	1727	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	474					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGGCTCACCGGCCACCACCG	0.632																																						ENST00000369215.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1420-1422)ccG>ccA		PR domain containing 13		G		2,3800		0,2,1899	22.0	25.0	24.0		1422	-0.5	0.2	6		24	0,8186		0,0,4093	no	coding-synonymous	PRDM13	NM_021620.3		0,2,5992	AA,AG,GG		0.0,0.0526,0.0167		474/708	100061933	2,11986	1901	4093	5994	SO:0001819	synonymous_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061933G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1422G>A	6.37:g.100061933G>A		False	False		Somatic	0					p.P474P	NM_021620.3	NP_067633.2	WXS	Illumina HiSeq	Phase_I	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1727	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	474					Q5TGC1|Q5TGC2	Silent	SNP	ENST00000369215.4	37	c.1422G>A	CCDS43487.1																																																																																				0.632	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	0			6:100061933
FIGN	55137	broad.mit.edu	37	2	164467285	164467285	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr2:164467285C>T	ENST00000333129.3	-	3	1371	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	353					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTGTTGTCGGGCATTCTG	0.448																																						ENST00000333129.3		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1057-1059)Gac>Aac		fidgetin							130.0	124.0	126.0					2																	164467285		1940	4135	6075	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467285C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1057G>A	2.37:g.164467285C>T	ENSP00000333836:p.Asp353Asn	True	False		Somatic	0				FIGN_ENST00000409634.1_Intron	p.D353N	NM_018086.2	NP_060556.2	WXS	Illumina HiSeq	Phase_I	Q5HY92	FIGN_HUMAN			3	1371	-			353					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1057G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148351	0.57151	.	.	ENSG00000182263	ENST00000333129	D	0.92805	-3.11	5.94	5.94	0.96194	.	0.172226	0.49916	D	0.000132	D	0.95421	0.8513	M	0.63843	1.955	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.93718	0.7030	10	0.35671	T	0.21	-28.7549	20.3666	0.98879	0.0:1.0:0.0:0.0	.	353	Q5HY92	FIGN_HUMAN	N	353	ENSP00000333836:D353N	ENSP00000333836:D353N	D	-	1	0	FIGN	164175531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.814000	0.96858	0.563000	0.77884	GAC		0.448	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	0	NM_018086		2:164467285
AVP	551	broad.mit.edu	37	20	3065264	3065264	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:3065264C>T	ENST00000380293.3	-	1	106	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	19			A -> T (in NDI; probably causes insufficient processing of precursor). {ECO:0000269|PubMed:12519420, ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:8370682, ECO:0000269|PubMed:8514868, ECO:0000269|PubMed:8554046, ECO:0000269|PubMed:9580132}.|A -> V (in NDI). {ECO:0000269|PubMed:14673472, ECO:0000269|PubMed:8554046}.		cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGAAGTAGCACGCGGAGGAGA	0.637																																						ENST00000380293.3		NA																	0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(55-57)gcG>gcA		arginine vasopressin							126.0	115.0	119.0					20																	3065264		2203	4300	6503	SO:0001819	synonymous_variant	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065264C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.57G>A	20.37:g.3065264C>T		False	False		Somatic	0					p.A19A	NM_000490.4	NP_000481.2	WXS	Illumina HiSeq	Phase_I	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	106	-			19		A -> T (in ADNDI; probably causes insufficient processing of precursor).|A -> V (in ADNDI).			A0AV35|O14935	Silent	SNP	ENST00000380293.3	37	c.57G>A	CCDS13045.1																																																																																				0.637	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	0	NM_000490		20:3065264
SLC22A11	55867	broad.mit.edu	37	11	64337198	64337198	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr11:64337198G>A	ENST00000301891.4	+	9	1831	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H|SLC22A11_ENST00000377581.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	486					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CTGATGAGCCGCCAAGCCCTG	0.612																																						ENST00000301891.4		NA																	0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1456-1458)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						113.0	111.0	111.0					11																	64337198		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64337198G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1457G>A	11.37:g.64337198G>A	ENSP00000301891:p.Arg486His	False	False		Somatic	0				SLC22A11_ENST00000377581.3_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R378H	p.R486H	NM_018484.2	NP_060954.1	WXS	Illumina HiSeq	Phase_I	Q9NSA0	S22AB_HUMAN			9	1831	+			486					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1457G>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544688	0.45280	.	.	ENSG00000168065	ENST00000301891;ENST00000377585	T;T	0.58797	0.31;0.31	3.49	0.46	0.16684	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.561891	0.16643	N	0.205556	T	0.45357	0.1338	M	0.64170	1.965	0.09310	N	1	B;P	0.36837	0.107;0.571	B;B	0.28553	0.009;0.091	T	0.30592	-0.9973	10	0.48119	T	0.1	.	7.0642	0.25143	0.3298:0.0:0.6702:0.0	.	378;486	Q9NSA0-2;Q9NSA0	.;S22AB_HUMAN	H	486;378	ENSP00000301891:R486H;ENSP00000366809:R378H	ENSP00000301891:R486H	R	+	2	0	SLC22A11	64093774	0.007000	0.16637	0.000000	0.03702	0.238000	0.25445	1.579000	0.36536	-0.000000	0.14550	0.485000	0.47835	CGC		0.612	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	0	NM_018484		11:64337198
PHIP	55023	broad.mit.edu	37	6	79668316	79668316	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:79668316G>A	ENST00000275034.4	-	32	3825	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	PHIP_ENST00000479165.1_5'UTR|AL356776.1_ENST00000516160.2_RNA	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1220	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAAGAAACCCGCCTTAAAAAA	0.328																																						ENST00000275034.4		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3658-3660)Cgg>Tgg		pleckstrin homology domain interacting protein							37.0	38.0	38.0					6																	79668316		2203	4299	6502	SO:0001630	splice_region_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79668316G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3657-1C>T	6.37:g.79668316G>A		True	False		Somatic	0				PHIP_ENST00000479165.1_5'UTR	p.R1220W	NM_017934.5	NP_060404	WXS	Illumina HiSeq	Phase_I	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	32	3825	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1220			Bromo 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Splice_Site	SNP	ENST00000275034.4	37	c.3658C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383342	0.82792	.	.	ENSG00000146247	ENST00000275034	T	0.19394	2.15	5.9	5.9	0.94986	Bromodomain (5);	0.000000	0.64402	D	0.000002	T	0.44435	0.1293	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.45833	-0.9234	9	.	.	.	-9.9537	14.1372	0.65295	0.0:0.0:0.8502:0.1498	.	1220;1220	A7J992;Q8WWQ0	.;PHIP_HUMAN	W	1220	ENSP00000275034:R1220W	.	R	-	1	2	PHIP	79725035	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.978000	0.88095	2.793000	0.96121	0.563000	0.77884	CGG		0.328	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	0		Missense_Mutation	6:79668316
EML1	2009	broad.mit.edu	37	14	100380996	100380996	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr14:100380996G>A	ENST00000262233.6	+	15	1853	c.1714G>A	c.(1714-1716)Gct>Act	p.A572T	EML1_ENST00000334192.4_Missense_Mutation_p.A591T|EML1_ENST00000327921.9_Missense_Mutation_p.A560T	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	572	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCTCTGGGACGCTGTGGGTCA	0.453																																						ENST00000262233.6		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1714-1716)Gct>Act		echinoderm microtubule associated protein like 1							70.0	61.0	64.0					14																	100380996		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100380996G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1714G>A	14.37:g.100380996G>A	ENSP00000262233:p.Ala572Thr	False	False		Somatic	0				EML1_ENST00000327921.9_Missense_Mutation_p.A560T|EML1_ENST00000334192.4_Missense_Mutation_p.A591T	p.A572T	NM_004434.2	NP_004425.2	WXS	Illumina HiSeq	Phase_I	O00423	EMAL1_HUMAN			15	1853	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	572					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1714G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334759	0.81801	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.39229	1.09;1.09;1.09	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.050391	0.85682	D	0.000000	T	0.39200	0.1069	N	0.15975	0.35	0.58432	D	0.999998	D;B;D	0.61697	0.961;0.089;0.99	B;B;P	0.50970	0.371;0.006;0.655	T	0.32719	-0.9896	10	0.41790	T	0.15	-19.4889	18.6177	0.91308	0.0:0.0:1.0:0.0	.	560;572;591	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	T	560;572;591;591	ENSP00000327384:A560T;ENSP00000262233:A572T;ENSP00000334314:A591T	ENSP00000262233:A572T	A	+	1	0	EML1	99450749	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.708000	0.61859	2.396000	0.81511	0.655000	0.94253	GCT		0.453	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	0	NM_001008707		14:100380996
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	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_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_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
PPRC1	23082	broad.mit.edu	37	10	103900075	103900075	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr10:103900075C>T	ENST00000278070.2	+	5	1849	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTAGCTGGCCCTGTACCTGT	0.577																																						ENST00000278070.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1810-1812)Cct>Tct		peroxisome proliferator-activated receptor gamma, coactivator-related 1							140.0	118.0	125.0					10																	103900075		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900075C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1810C>T	10.37:g.103900075C>T	ENSP00000278070:p.Pro604Ser	True	False		Somatic	0				PPRC1_ENST00000413464.2_Missense_Mutation_p.P604S	p.P604S	NM_015062.3	NP_055877.3	WXS	Illumina HiSeq	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1849	+		Colorectal(252;0.122)	604					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1810C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971154	0.53614	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.33438	1.41;1.41	4.3	-1.15	0.09709	.	0.231155	0.22393	N	0.060651	T	0.12135	0.0295	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.17667	0.013;0.023;0.013	B;B;B	0.12156	0.003;0.007;0.003	T	0.13229	-1.0517	10	0.19147	T	0.46	.	0.2406	0.00191	0.2904:0.289:0.1519:0.2687	.	604;484;604	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	S	604	ENSP00000278070:P604S;ENSP00000399743:P604S	ENSP00000278070:P604S	P	+	1	0	PPRC1	103890065	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	-0.480000	0.06559	-0.177000	0.10690	0.561000	0.74099	CCT		0.577	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	NM_015062		10:103900075
INPP4B	8821	broad.mit.edu	37	4	143033802	143033802	+	Silent	SNP	G	G	A	rs376859157		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr4:143033802G>A	ENST00000513000.1	-	23	2602	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000508116.1_Silent_p.A723A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	723					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAAACATTCTGGCTGGAAGCT	0.368																																						ENST00000513000.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2167-2169)gcC>gcT		inositol polyphosphate-4-phosphatase, type II, 105kDa		G	,	1,4405	2.1+/-5.4	0,1,2202	155.0	153.0	154.0		2169,2169	-9.7	0.0	4		154	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	INPP4B	NM_001101669.1,NM_003866.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	723/925,723/925	143033802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143033802G>A	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2169C>T	4.37:g.143033802G>A		True	False		Somatic	0				INPP4B_ENST00000508116.1_Silent_p.A723A|INPP4B_ENST00000262992.4_Silent_p.A723A|INPP4B_ENST00000308502.4_Silent_p.A723A|INPP4B_ENST00000509777.1_Silent_p.A723A	p.A723A	NM_003866.2	NP_003857.2	WXS	Illumina HiSeq	Phase_I	O15327	INP4B_HUMAN			23	2602	-	all_hematologic(180;0.158)		723					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.2169C>T	CCDS3757.1																																																																																				0.368	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	0	NM_003866		4:143033802
PRAF2	11230	broad.mit.edu	37	X	48931491	48931491	+	Silent	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chrX:48931491G>A	ENST00000376390.4	-	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PRAF2_ENST00000376386.3_Silent_p.F52F|PRAF2_ENST00000491199.1_5'UTR|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000553851.1_Intron	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	52					L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						GGCCGATGCCGAAGCAGAGAA	0.657																																						ENST00000376390.4		NA																	0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(154-156)ttC>ttT		PRA1 domain family, member 2							76.0	64.0	68.0					X																	48931491		2203	4300	6503	SO:0001819	synonymous_variant	11230							g.chrX:48931491G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.156C>T	X.37:g.48931491G>A		False	False		Somatic	0				PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000553851.1_Intron|PRAF2_ENST00000376386.3_Silent_p.F52F|AF196779.12_ENST00000376358.3_Intron	p.F52F	NM_007213.1	NP_009144.1	WXS	Illumina HiSeq	Phase_I					1	239	-			NA					B2RD20	Silent	SNP	ENST00000376390.4	37	c.156C>T	CCDS14317.1																																																																																				0.657	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	0	NM_007213		X:48931491
WNT10B	7480	broad.mit.edu	37	12	49360058	49360058	+	Silent	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr12:49360058C>T	ENST00000301061.4	-	5	1338	c.990G>A	c.(988-990)agG>agA	p.R330R	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	330					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGGCCCGGCCCCTTGTCCCTG	0.642																																						ENST00000301061.4		NA																	0				central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						c.(988-990)agG>agA		wingless-type MMTV integration site family, member 10B							31.0	33.0	32.0					12																	49360058		2203	4300	6503	SO:0001819	synonymous_variant	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49360058C>T	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.990G>A	12.37:g.49360058C>T		True	False		Somatic	0				WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	p.R330R	NM_003394.3	NP_003385.2	WXS	Illumina HiSeq	Phase_I	O00744	WN10B_HUMAN			5	1338	-			330					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Silent	SNP	ENST00000301061.4	37	c.990G>A	CCDS8775.1																																																																																				0.642	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	0	NM_003394		12:49360058
OR1L1	26737	broad.mit.edu	37	9	125424096	125424096	+	Silent	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr9:125424096C>A	ENST00000373686.1	+	1	252	c.252C>A	c.(250-252)atC>atA	p.I84I	OR1L1_ENST00000309623.1_Silent_p.I34I			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCCTCCCCATCTACCTTATCA	0.493																																						ENST00000373686.1		NA																	0				breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						c.(250-252)atC>atA		olfactory receptor, family 1, subfamily L, member 1							114.0	100.0	105.0					9																	125424096		2203	4300	6503	SO:0001819	synonymous_variant	26737				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125424096C>A		CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.252C>A	9.37:g.125424096C>A		False	False		Somatic	0				OR1L1_ENST00000309623.1_Silent_p.I34I	p.I84I			WXS	Illumina HiSeq	Phase_I	Q8NH94	OR1L1_HUMAN			1	252	+			84					Q5T7Z3|Q6IFN2	Silent	SNP	ENST00000373686.1	37	c.252C>A																																																																																					0.493	OR1L1-201	KNOWN	basic	protein_coding	protein_coding		0			9:125424096
NBR2	10230	broad.mit.edu	37	17	41291032	41291032	+	RNA	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41291032C>A	ENST00000460115.1	+	0	490					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		tgcctatatacaacccctttt	0.448																																						ENST00000460115.1		NA																	0					NA																																														0							g.chr17:41291032C>A	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41291032C>A		True	False		Somatic	0						NR_003108.1		WXS	Illumina HiSeq	Phase_I					0	490	+			NA					Q3LRJ7	RNA	SNP	ENST00000460115.1	37																																																																																						0.448	NBR2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000277175.1	0	NR_003108		17:41291032
KHDC1L	100129128	broad.mit.edu	37	6	73935126	73935126	+	Silent	SNP	G	G	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:73935126G>T	ENST00000370388.3	-	1	49	c.6C>A	c.(4-6)gcC>gcA	p.A2A	KHDC1L_ENST00000471312.1_5'UTR|RP11-257K9.8_ENST00000423730.3_Missense_Mutation_p.P105Q	NM_001126063.2	NP_001119535.1	Q5JSQ8	KHDCL_HUMAN	KH homology domain containing 1-like	2										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						TCGTTCCCACGGCCATGCTGT	0.532																																						ENST00000423730.3		NA																	0					NA						c.(313-315)cCg>cAg									73.0	65.0	68.0					6																	73935126		692	1591	2283	SO:0001819	synonymous_variant	0							g.chr6:73935126G>T	BC004267	CCDS47450.1	6q13	2014-05-15			ENSG00000256980	ENSG00000256980			37274	protein-coding gene	gene with protein product							Standard	NM_001126063		Approved	RP11-257K9.7	uc003pgm.4	Q5JSQ8	OTTHUMG00000132474	ENST00000370388.3:c.6C>A	6.37:g.73935126G>T		False	False		Somatic	0				KHDC1L_ENST00000370388.3_Silent_p.A2A|KHDC1L_ENST00000471312.1_5'UTR	p.P105Q			WXS	Illumina HiSeq	Phase_I					4	749	-			NA					E1P535	Missense_Mutation	SNP	ENST00000370388.3	37	c.314C>A	CCDS47450.1	.	.	.	.	.	.	.	.	.	.	G	6.071	0.381371	0.11466	.	.	ENSG00000256980	ENST00000370385	.	.	.	1.91	1.01	0.19927	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26916	-1.0089	5	0.87932	D	0	.	4.4396	0.11568	0.207:0.0:0.793:0.0	.	.	.	.	Q	105	.	ENSP00000359412:P105Q	P	-	2	0	RP11-257K9.7	73991847	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.979000	0.29500	0.355000	0.24131	0.205000	0.17691	CCG		0.532	KHDC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255640.1	0	NM_001126063		6:73935126
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3		NA																	0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49.0	47.0	48.0					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser	True	False		Somatic	0				RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	WXS	Illumina HiSeq	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	NM_006047		20:34241168
GLMN	11146	broad.mit.edu	37	1	92737044	92737044	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr1:92737044C>G	ENST00000370360.3	-	8	982	c.901G>C	c.(901-903)Gat>Cat	p.D301H	GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	301					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GGAAGCTGATCAATATGGATG	0.318									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3		NA																	0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(901-903)Gat>Cat		glomulin, FKBP associated protein							173.0	167.0	169.0					1																	92737044		2203	4300	6503	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92737044C>G	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.901G>C	1.37:g.92737044C>G	ENSP00000359385:p.Asp301His	False	False		Somatic	0				GLMN_ENST00000534881.1_Missense_Mutation_p.D301H	p.D301H	NM_053274.2	NP_444504.1	WXS	Illumina HiSeq	Phase_I	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	8	982	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	301					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.901G>C	CCDS738.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871104	0.51695	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50001	0.76;0.78	5.08	4.17	0.49024	.	0.141925	0.64402	D	0.000007	T	0.50616	0.1626	M	0.63843	1.955	0.38063	D	0.936146	D;D	0.89917	0.989;1.0	P;D	0.69824	0.882;0.966	T	0.58064	-0.7702	10	0.87932	D	0	-13.4808	8.206	0.31456	0.0:0.7503:0.0:0.2497	.	301;301	B4DJ85;Q92990	.;GLMN_HUMAN	H	301	ENSP00000359385:D301H;ENSP00000440156:D301H	ENSP00000359385:D301H	D	-	1	0	GLMN	92509632	0.967000	0.33354	0.880000	0.34516	0.924000	0.55760	0.970000	0.29383	1.126000	0.42016	0.591000	0.81541	GAT		0.318	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	0	NM_007070		1:92737044
MKRN3	7681	broad.mit.edu	37	15	23811290	23811290	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr15:23811290C>A	ENST00000314520.3	+	1	837	c.361C>A	c.(361-363)Ctt>Att	p.L121I	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	121					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCGCACGACCTTTCTGGTCG	0.602																																						ENST00000314520.3		NA																	0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(361-363)Ctt>Att		makorin ring finger protein 3							56.0	58.0	57.0					15																	23811290		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811290C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.361C>A	15.37:g.23811290C>A	ENSP00000313881:p.Leu121Ile	True	False		Somatic	0				MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	p.L121I	NM_005664.3	NP_005655.1	WXS	Illumina HiSeq	Phase_I	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	837	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	121						Missense_Mutation	SNP	ENST00000314520.3	37	c.361C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208879	0.79240	.	.	ENSG00000179455	ENST00000314520	T	0.35236	1.32	3.94	2.05	0.26809	Zinc finger, CCCH-type (2);	0.280449	0.29451	N	0.012115	T	0.26484	0.0647	L	0.47016	1.485	0.47245	D	0.999361	B	0.26935	0.164	B	0.23852	0.049	T	0.09400	-1.0676	10	0.59425	D	0.04	.	4.7645	0.13125	0.2134:0.6766:0.0:0.1099	.	121	Q13064	MKRN3_HUMAN	I	121	ENSP00000313881:L121I	ENSP00000313881:L121I	L	+	1	0	MKRN3	21362383	0.221000	0.23642	0.010000	0.14722	0.327000	0.28475	1.320000	0.33666	0.631000	0.30412	0.563000	0.77884	CTT		0.602	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	0	NM_005664		15:23811290
SETD2	29072	broad.mit.edu	37	3	47098937	47098937	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:47098937G>A	ENST00000409792.3	-	15	6379	c.6337C>T	c.(6337-6339)Cgc>Tgc	p.R2113C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2113					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATTGCGGTCTTTAATT	0.403			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3		NA		Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6337-6339)Cgc>Tgc		SET domain containing 2							56.0	58.0	57.0					3																	47098937		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47098937G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6337C>T	3.37:g.47098937G>A	ENSP00000386759:p.Arg2113Cys	False	False		Somatic	0					p.R2113C	NM_014159.6	NP_054878.5	WXS	Illumina HiSeq	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	15	6379	-		Acute lymphoblastic leukemia(5;0.0169)	2113					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6337C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388690	0.82902	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24908	1.83	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000013	T	0.43122	0.1233	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.57679	0.825;0.825	T	0.36817	-0.9732	10	0.87932	D	0	.	18.4955	0.90864	0.0:0.0:1.0:0.0	.	2113;2113	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	2113	ENSP00000386759:R2113C	ENSP00000386759:R2113C	R	-	1	0	SETD2	47073941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.993000	0.70616	2.686000	0.91538	0.561000	0.74099	CGC		0.403	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	0	NM_014159		3:47098937
NBR2	10230	broad.mit.edu	37	17	41290972	41290972	+	RNA	SNP	C	C	T			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr17:41290972C>T	ENST00000460115.1	+	0	490					NR_003108.1		O15453	NBR2_HUMAN	neighbor of BRCA1 gene 2 (non-protein coding)																		ggtacaaccccctccccacaa	0.468																																						ENST00000460115.1		NA																	0					NA															49.0	47.0	48.0					17																	41290972		1568	3582	5150			0							g.chr17:41290972C>T	U88573		17q21	2012-10-16	2009-08-21		ENSG00000198496	ENSG00000198496		"""Long non-coding RNAs"""	20691	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 192"""		"""neighbor of BRCA1 gene 2"""			9215675, 15777733	Standard	NR_003108		Approved	NCRNA00192	uc002idf.3	O15453	OTTHUMG00000140395		17.37:g.41290972C>T		True	False		Somatic	0						NR_003108.1		WXS	Illumina HiSeq	Phase_I					0	490	+			NA					Q3LRJ7	RNA	SNP	ENST00000460115.1	37																																																																																						0.468	NBR2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000277175.1	0	NR_003108		17:41290972
ANKRD28	23243	broad.mit.edu	37	3	15762489	15762489	+	Missense_Mutation	SNP	G	G	A	rs369055825		TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr3:15762489G>A	ENST00000399451.2	-	8	1206	c.839C>T	c.(838-840)gCt>gTt	p.A280V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	280						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTTGATGCAGCAGCAAAGTG	0.373																																						ENST00000399451.2		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(838-840)gCt>gTt		ankyrin repeat domain 28							147.0	142.0	144.0					3																	15762489		1912	4119	6031	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15762489G>A	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.839C>T	3.37:g.15762489G>A	ENSP00000382379:p.Ala280Val	True	False		Somatic	0				ANKRD28_ENST00000383777.1_Missense_Mutation_p.A313V|ANKRD28_ENST00000497037.1_5'UTR	p.A280V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina HiSeq	Phase_I	O15084	ANR28_HUMAN			8	1206	-			280					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.839C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676064	0.96764	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.63417	-0.04;-0.04;-0.04	6.03	6.03	0.97812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70716	0.95;0.908;0.97	T	0.75434	-0.3319	10	0.51188	T	0.08	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	313;310;280	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	V	280;313;280	ENSP00000382379:A280V;ENSP00000373287:A313V;ENSP00000397341:A280V	ENSP00000373287:A313V	A	-	2	0	ANKRD28	15737493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.868000	0.98415	0.557000	0.71058	GCT		0.373	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	0	NM_015199		3:15762489
HIST1H2AC	8334	broad.mit.edu	37	6	26124629	26124629	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ3-01A-11D-A40W-08	TCGA-FB-AAQ3-11A-11D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	1978bc24-e7ec-4bb9-a4a8-6152c23c3a57	f9625c44-8f93-4902-a5b2-ecb4206c11da	g.chr6:26124629G>A	ENST00000602637.1	+	1	199	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						GGCGGTGTTAGAGTACCTGAC	0.662																																						ENST00000602637.1		NA																	0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(169-171)Gag>Aag		histone cluster 1, H2ac							50.0	51.0	51.0					6																	26124629		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124629G>A	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.169G>A	6.37:g.26124629G>A	ENSP00000473534:p.Glu57Lys	False	False		Somatic	0				HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57K	p.E57K			WXS	Illumina HiSeq	Phase_I	Q93077	H2A1C_HUMAN			1	199	+			57					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.169G>A	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	33	5.221276	0.95139	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.61742	0.08;0.08	5.78	5.78	0.91487	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.44902	D	0.000401	D	0.84124	0.5403	H	0.97516	4.02	0.51767	D	0.999937	D	0.89917	1.0	D	0.97110	1.0	D	0.88700	0.3215	10	0.87932	D	0	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	57	Q93077	H2A1C_HUMAN	K	57	ENSP00000367022:E57K;ENSP00000321389:E57K	ENSP00000321389:E57K	E	+	1	0	HIST1H2AC	26232608	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.460000	0.97641	2.894000	0.99253	0.591000	0.81541	GAG		0.662	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	0	NM_003512		6:26124629
