#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
DENND2D	79961	broad.mit.edu	37	1	111734941	111734942	+	Splice_Site	INS	-	-	AGATCGGAA			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:111734941_111734942insAGATCGGAA	ENST00000357640.4	-	8	1024		c.e8-2		DENND2D_ENST00000369752.5_Splice_Site|DENND2D_ENST00000473682.1_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D						positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GACAAGGTGCTGGGACAGAGCA	0.614																																						ENST00000357640.4		NA																	0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.e8-2		DENN/MADD domain containing 2D																																				SO:0001630	splice_region_variant	79961							g.chr1:111734941_111734942insAGATCGGAA		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.795-2->TTCCGATCT	1.37:g.111734941_111734942insAGATCGGAA		True	False		Somatic	0				DENND2D_ENST00000369752.5_Splice_Site		NM_024901.3	NP_079177.2	WXS	Illumina HiSeq	Phase_I	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	8	1024	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	NA					Q5T5V6|Q9BSU0	Splice_Site	INS	ENST00000357640.4	37		CCDS831.1																																																																																				0.614	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	0	NM_024901	Intron	1:111734941
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del			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_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|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
C18orf8	29919	broad.mit.edu	37	18	21098885	21098887	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CAT	CAT	-	-	CAT	CAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:21098885_21098887delCAT	ENST00000269221.3	+	8	795_797	c.685_687delCAT	c.(685-687)catdel	p.H230del	C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	230						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTTCTTGAGGCATCATTCTCGGA	0.424																																						ENST00000590868.1		NA																	0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(541-543)catdel		chromosome 18 open reading frame 8																																				SO:0001651	inframe_deletion	29919							g.chr18:21098885_21098887delCAT	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.685_687delCAT	18.37:g.21098888_21098890delCAT	ENSP00000269221:p.His230del	False	False		Somatic	2				C18orf8_ENST00000269221.3_In_Frame_Del_p.H230del	p.H182del			WXS	Illumina HiSeq	Phase_I	Q96DM3	MIC1_HUMAN			6	641_643	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		230					Q9BU17|Q9Y5M0	In_Frame_Del	DEL	ENST00000269221.3	37	c.541_543delCAT	CCDS32803.1																																																																																				0.424	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	0	NM_013326		18:21098885
AAK1	22848	broad.mit.edu	37	2	69741760	69741765	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-	rs77547121		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	TGTTGC	TGTTGC	-	-	TGTTGC	TGTTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:69741760_69741765delTGTTGC	ENST00000409085.4	-	13	1990_1995	c.1614_1619delGCAACA	c.(1612-1620)cagcaacaa>caa	p.538_540QQQ>Q	AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ttgctgttgttgttgctgctgctgct	0.544																																						ENST00000409085.4		NA																	2	Substitution - coding silent(2)	p.Q538Q(2)	kidney(2)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						c.(1612-1620)cagcaacaa>caa		AP2 associated kinase 1																																				SO:0001651	inframe_deletion	22848					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr2:69741760_69741765delTGTTGC	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1614_1619delGCAACA	2.37:g.69741760_69741765delTGTTGC	ENSP00000386456:p.Gln544_Gln545del	True	False		Somatic	1				AAK1_ENST00000406297.3_In_Frame_Del_p.538_540QQQ>Q|AAK1_ENST00000409068.1_In_Frame_Del_p.538_540QQQ>Q	p.538_540QQQ>Q	NM_014911.3	NP_055726.3	WXS	Illumina HiSeq	Phase_I	Q2M2I8	AAK1_HUMAN			13	1990_1995	-			538			Gln-rich.		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	ENST00000409085.4	37	c.1614_1619delGCAACA	CCDS1893.2																																																																																				0.544	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	0	NM_014911		2:69741760
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	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
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Intron	DEL	C	C	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:109850201delC	ENST00000424296.2	-	29	3710				AK9_ENST00000341338.6_Intron|AK9_ENST00000355283.1_Frame_Shift_Del_p.V295fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										aaaaaaaaaacaaaaCTACTT	0.413													|||unknown(HR)	663	0.132388	0.0333	0.1167	5008	,	,		17019	0.1974		0.0964	False		,,,				2504	0.2474					ENST00000355283.1		NA																	0					NA						c.(883-885)gttfs		adenylate kinase 9							40.0	27.0	32.0					6																	109850201		2117	3722	5839	SO:0001627	intron_variant	221264							g.chr6:109850201delC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12G>-	6.37:g.109850201delC		True	False		Somatic	1				AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.V295fs			WXS	Illumina HiSeq	Phase_I					5	1129	-			NA					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.883delG	CCDS55048.1																																																																																				0.413	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001145128		6:109850201
GJA1	2697	broad.mit.edu	37	6	121768925	121768925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:121768925delC	ENST00000282561.3	+	2	1089	c.932delC	c.(931-933)gctfs	p.A311fs		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	311					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAAAACTGGGCTAATTACAGT	0.478																																						ENST00000282561.3		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33	GRCh37	CD073645	GJA1	D		c.(931-933)gctfs		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						72.0	73.0	73.0					6																	121768925		2203	4300	6503	SO:0001589	frameshift_variant	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768925delC	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.932delC	6.37:g.121768925delC	ENSP00000282561:p.Ala311fs	True	False		Somatic	1					p.A311fs	NM_000165.3	NP_000156.1	WXS	Illumina HiSeq	Phase_I	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	1089	+			311					B2R5U9|Q6FHU1|Q9Y5I8	Frame_Shift_Del	DEL	ENST00000282561.3	37	c.932delC	CCDS5123.1																																																																																				0.478	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	0	NM_000165		6:121768925
BCLAF1	9774	broad.mit.edu	37	6	136597648	136597649	+	Splice_Site	INS	-	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA	ENST00000531224.1	-	5	1269		c.e5-2		BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGTGAACCTGCGAATAAGCA	0.441																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1		NA																	0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.e5-2		BCL2-associated transcription factor 1																																				SO:0001630	splice_region_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1017-2->TGATGGTGGAGATCAGGAAACTGCAAAGACTGGGAAGTTCTTAAAA	6.37:g.136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCA		False	False		Somatic	0				BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site|BCLAF1_ENST00000530767.1_Intron		NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina HiSeq	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1269	-	Colorectal(23;0.24)		NA					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	INS	ENST00000531224.1	37		CCDS5177.1																																																																																				0.441	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	0	NM_014739	Intron	6:136597648
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
SP8	221833	broad.mit.edu	37	7	20825146	20825172	+	In_Frame_Del	DEL	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	rs370737007|rs564509664|rs9771343|rs9769412	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	-	-	GCAGCCGCGGCTGCTGCCGCGGCCGCC	GCAGCCGCGGCTGCTGCCGCGGCCGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC	ENST00000361443.4	-	3	447_473	c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	c.(208-237)gcggcggccgcggcagcagccgcggctgcc>gcc	p.70_79AAAAAAAAAA>A	SP8_ENST00000418710.2_In_Frame_Del_p.88_97AAAAAAAAAA>A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	70	Ala-rich.|Ser-rich.				dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGGgccgcggcagccgcggctgctgccgcggccgccgcagccgccg	0.744																																						ENST00000361443.4		NA																	0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(208-237)gcggcggccgcggcagcagccgcggctgcc>gcc		Sp8 transcription factor			,	60,402		29,2,200					,	-5.2	0.9			2	155,1461		69,17,722	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	98,19,922	A1A1,A1R,RR		9.5916,12.987,10.3465	,	,		215,1863				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	7.37:g.20825146_20825172delGCAGCCGCGGCTGCTGCCGCGGCCGCC	ENSP00000354482:p.Ala70_Ala78del	False	False		Somatic	1				SP8_ENST00000418710.2_In_Frame_Del_p.88_97AAAAAAAAAA>A	p.70_79AAAAAAAAAA>A	NM_198956.2	NP_945194.1	WXS	Illumina HiSeq	Phase_I	Q8IXZ3	SP8_HUMAN			3	447_473	-			70			Ala-rich.|Ser-rich.		Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.210_236delGGCGGCCGCGGCAGCAGCCGCGGCTGC	CCDS5372.1																																																																																				0.744	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2	0			7:20825146
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
TNFRSF10A	8797	broad.mit.edu	37	8	23054679	23054701	+	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-	rs372908951		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-	-	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENST00000221132.3	-	9	1095_1117	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	c.(1030-1053)gaagggtctcagaggaggaggctgfs	p.EGSQRRRL344fs		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	344					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTGGAACCAGCAGCCTCCTCCTCTGAGACCCTTCAGCTTCTGC	0.556																																						ENST00000221132.3		NA																	0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1030-1053)gaagggtctcagaggaggaggctgfs		tumor necrosis factor receptor superfamily, member 10a																																				SO:0001589	frameshift_variant	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	8.37:g.23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENSP00000221132:p.Glu344fs	True	False		Somatic	1					p.EGSQRRRL344fs	NM_003844.3	NP_003835.3	WXS	Illumina HiSeq	Phase_I	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	9	1095_1117	-		Prostate(55;0.0421)|Breast(100;0.14)	344					A8K5I4|Q53Y72|Q96E62	Frame_Shift_Del	DEL	ENST00000221132.3	37	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	CCDS6039.1																																																																																				0.556	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	0	NM_003844		8:23054679
CDKN2A	1029	broad.mit.edu	37	9	21974727	21974744	+	In_Frame_Del	DEL	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-	rs540871544	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	-	-	CCTCCAGCAGCGCCCGCA	CCTCCAGCAGCGCCCGCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	ENST00000304494.5	-	1	353_370	c.83_100delTGCGGGCGCTGCTGGAGG	c.(82-102)gtgcgggcgctgctggaggcg>gcg	p.VRALLE28del	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLE28del	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGCGCCCCCGCCTCCAGCAGCGCCCGCACCTCCTCTAC	0.739		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1368	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(10)|Substitution - Missense(9)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Substitution - Nonsense(2)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.A30V(3)|p.E33*(2)|p.V28_E33del(2)|p.R29_A34del(2)|p.V28V(2)|p.A30A(2)|p.R29Q(1)|p.0(1)|p.V28_V51del(1)|p.L32R(1)|p.R29fs*9(1)|p.V28fs*15(1)|p.L31P(1)|p.E33fs*8(1)|p.A30P(1)|p.E33D(1)|p.R22fs*14(1)|p.V28G(1)	haematopoietic_and_lymphoid_tissue(278)|skin(173)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(58)|oesophagus(57)|upper_aerodigestive_tract(53)|pleura(52)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|liver(8)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972118|CI003210|CM024658|CM950225	CDKN2A	D|I|M		c.(82-102)gtgcgggcgctgctggaggcg>gcg		cyclin-dependent kinase inhibitor 2A																																				SO:0001651	inframe_deletion	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974727_21974744delCCTCCAGCAGCGCCCGCA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.83_100delTGCGGGCGCTGCTGGAGG	9.37:g.21974727_21974744delCCTCCAGCAGCGCCCGCA	ENSP00000307101:p.Val28_Glu33del	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.VRALLE28del|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron	p.VRALLE28del	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	353_370	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	28					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	In_Frame_Del	DEL	ENST00000304494.5	37	c.83_100delTGCGGGCGCTGCTGGAGG	CCDS6510.1																																																																																				0.739	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974727
TRABD2A	129293	broad.mit.edu	37	2	85097426	85097426	+	Missense_Mutation	SNP	G	G	A	rs372215440		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:85097426G>A	ENST00000409520.2	-	2	634	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	198					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										TTCCTCAGCCGCTCAGCCTCC	0.517																																						ENST00000335459.5		NA																	0					NA						c.(592-594)Cgg>Tgg		TraB domain containing 2A		G	TRP/ARG	1,4047		0,1,2023	141.0	145.0	144.0		592	-2.9	0.9	2		144	0,8388		0,0,4194	no	missense	C2orf89	NM_001080824.1	101	0,1,6217	AA,AG,GG		0.0,0.0247,0.0080	probably-damaging	198/457	85097426	1,12435	2024	4194	6218	SO:0001583	missense	129293							g.chr2:85097426G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.592C>T	2.37:g.85097426G>A	ENSP00000387075:p.Arg198Trp	False	False		Somatic	0				TRABD2A_ENST00000409520.2_Missense_Mutation_p.R198W|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R198W	p.R198W	NM_001080824.1	NP_001074293.1	WXS	Illumina HiSeq	Phase_I					2	797	-			NA					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.592C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.886766	0.51908	2.47E-4	0.0	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.08546	3.08;3.08;3.08	3.14	-2.89	0.05665	.	0.087235	0.42172	N	0.000757	T	0.19167	0.0460	.	.	.	0.38592	D	0.950453	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.986;0.998	T	0.03268	-1.1054	9	0.87932	D	0	.	3.9367	0.09309	0.2008:0.0:0.343:0.4562	.	198;198;198	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	W	198	ENSP00000335004:R198W;ENSP00000387075:R198W;ENSP00000387183:R198W	ENSP00000335004:R198W	R	-	1	2	C2orf89	84950937	1.000000	0.71417	0.909000	0.35828	0.892000	0.51952	0.864000	0.27926	-1.188000	0.02705	-0.475000	0.04921	CGG		0.517	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001080824		2:85097426
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
EPC1	80314	broad.mit.edu	37	10	32581568	32581568	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:32581568C>T	ENST00000263062.8	-	5	940	c.671G>A	c.(670-672)cGc>cAc	p.R224H	EPC1_ENST00000319778.6_Missense_Mutation_p.R224H|EPC1_ENST00000375110.2_Missense_Mutation_p.R174H	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	224					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATCATTTTTGCGATTCTGCAA	0.313																																						ENST00000319778.6		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(670-672)cGc>cAc		enhancer of polycomb homolog 1 (Drosophila)							62.0	59.0	60.0					10																	32581568		2203	4299	6502	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32581568C>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.671G>A	10.37:g.32581568C>T	ENSP00000263062:p.Arg224His	False	False		Somatic	0				EPC1_ENST00000375110.2_Missense_Mutation_p.R174H|EPC1_ENST00000263062.8_Missense_Mutation_p.R224H	p.R224H	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	WXS	Illumina HiSeq	Phase_I	Q9H2F5	EPC1_HUMAN			5	973	-		Prostate(175;0.0199)	224					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.671G>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441708	0.96187	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67345	-0.26;-0.26;-0.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.90294	0.4325	10	0.87932	D	0	-6.4105	20.0627	0.97684	0.0:1.0:0.0:0.0	.	224;174;224;224	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	H	174;224;224	ENSP00000364251:R174H;ENSP00000318559:R224H;ENSP00000263062:R224H	ENSP00000263062:R224H	R	-	2	0	EPC1	32621574	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.794000	0.85869	2.807000	0.96579	0.591000	0.81541	CGC		0.313	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1	0			10:32581568
DOCK2	1794	broad.mit.edu	37	5	169446049	169446049	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:169446049C>A	ENST00000256935.8	+	33	3398	c.3318C>A	c.(3316-3318)gcC>gcA	p.A1106A	DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000540750.1_Silent_p.A167A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1106	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGGAAAGCCACCATACCAA	0.453																																						ENST00000256935.8		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3316-3318)gcC>gcA		dedicator of cytokinesis 2							197.0	195.0	196.0					5																	169446049		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169446049C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3318C>A	5.37:g.169446049C>A		False	False		Somatic	0				DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A	p.A1106A	NM_004946.2	NP_004937.1	WXS	Illumina HiSeq	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	3398	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1106			Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3318C>A	CCDS4371.1																																																																																				0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	NM_004946		5:169446049
LGALS9B	284194	broad.mit.edu	37	17	20363690	20363690	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:20363690C>T	ENST00000423676.3	-	2	169	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	LGALS9B_ENST00000324290.5_Missense_Mutation_p.A36T			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	36	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGAGAACGGCCCCATTGACA	0.562																																						ENST00000423676.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(106-108)Gcc>Acc		lectin, galactoside-binding, soluble, 9B							189.0	157.0	168.0					17																	20363690		2202	4298	6500	SO:0001583	missense	284194						sugar binding	g.chr17:20363690C>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.106G>A	17.37:g.20363690C>T	ENSP00000388841:p.Ala36Thr	True	False		Somatic	0				LGALS9B_ENST00000324290.5_Missense_Mutation_p.A36T	p.A36T			WXS	Illumina HiSeq	Phase_I	Q3B8N2	LEG9B_HUMAN			2	169	-			36			Galectin 1.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.106G>A		.	.	.	.	.	.	.	.	.	.	C	0.008	-1.894362	0.00522	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.04706	3.57;3.57	2.33	-4.66	0.03329	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.205440	0.05760	N	0.604671	T	0.01156	0.0038	N	0.00496	-1.435	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.42172	-0.9467	10	0.08381	T	0.77	.	4.3468	0.11136	0.162:0.4203:0.0:0.4177	.	36;36	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	T	36	ENSP00000388841:A36T;ENSP00000315564:A36T	ENSP00000315564:A36T	A	-	1	0	LGALS9B	20304282	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-0.624000	0.05540	-1.862000	0.01151	-1.441000	0.01070	GCC		0.562	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	0	NM_001042685		17:20363690
CNGA3	1261	broad.mit.edu	37	2	99012788	99012788	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:99012788C>G	ENST00000272602.2	+	7	1194	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000393504.1_Missense_Mutation_p.F385L|CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	385					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCGTAGACTTCTTGGTGGGTG	0.498																																						ENST00000393504.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1153-1155)ttC>ttG		cyclic nucleotide gated channel alpha 3							79.0	81.0	80.0					2																	99012788		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012788C>G	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1155C>G	2.37:g.99012788C>G	ENSP00000272602:p.Phe385Leu	False	False		Somatic	0				CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000272602.2_Missense_Mutation_p.F385L	p.F385L	NM_001298.2	NP_001289.1	WXS	Illumina HiSeq	Phase_I	Q16281	CNGA3_HUMAN			8	1572	+			385					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1155C>G	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727449	0.30593	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.05	5.05	0.67936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.73598	2.24	0.58432	D	0.999997	B;B;B	0.31752	0.091;0.338;0.203	B;B;B	0.38194	0.147;0.267;0.255	D	0.94382	0.7605	10	0.32370	T	0.25	.	7.4961	0.27490	0.0:0.8252:0.0:0.1748	.	389;367;385	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	L	385;367;385;389	ENSP00000377140:F385L;ENSP00000410070:F367L;ENSP00000272602:F385L;ENSP00000386761:F389L	ENSP00000272602:F385L	F	+	3	2	CNGA3	98379220	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.525000	0.22956	2.620000	0.88729	0.563000	0.77884	TTC		0.498	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	0	NM_001298		2:99012788
BUB1	699	broad.mit.edu	37	2	111425242	111425242	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:111425242C>T	ENST00000302759.6	-	8	779	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	BUB1_ENST00000409311.1_Missense_Mutation_p.V221M|BUB1_ENST00000535254.1_Missense_Mutation_p.V201M	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	221					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V221_S227>S(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GATGAGTGCACAGAATATTCT	0.368																																						ENST00000535254.1		NA																	1	Complex - deletion inframe(1)	p.V221_S227>S(1)	kidney(1)	breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(601-603)Gtg>Atg		BUB1 mitotic checkpoint serine/threonine kinase							95.0	96.0	95.0					2																	111425242		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111425242C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.661G>A	2.37:g.111425242C>T	ENSP00000302530:p.Val221Met	False	False		Somatic	0				BUB1_ENST00000302759.6_Missense_Mutation_p.V221M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	p.V201M	NM_001278616.1	NP_001265545.1	WXS	Illumina HiSeq	Phase_I	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	7	668	-		Ovarian(717;0.0822)	221					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.601G>A	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797928	0.50208	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32272	2.2;1.46;2.46	5.72	0.743	0.18347	.	1.042200	0.07470	N	0.902057	T	0.32496	0.0831	L	0.40543	1.245	0.09310	N	1	P;D;P	0.54047	0.955;0.964;0.874	P;P;B	0.53593	0.73;0.547;0.346	T	0.16571	-1.0398	10	0.32370	T	0.25	0.1037	3.7315	0.08495	0.293:0.4713:0.0:0.2356	.	201;221;221	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	M	201;221;221;221	ENSP00000441013:V201M;ENSP00000386701:V221M;ENSP00000302530:V221M	ENSP00000302530:V221M	V	-	1	0	BUB1	111141713	0.020000	0.18652	0.002000	0.10522	0.926000	0.56050	0.091000	0.15046	-0.140000	0.11394	0.650000	0.86243	GTG		0.368	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	0	NM_004336		2:111425242
DOCK8	81704	broad.mit.edu	37	9	376273	376273	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:376273G>C	ENST00000453981.1	+	19	2285	c.2173G>C	c.(2173-2175)Gaa>Caa	p.E725Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E657Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	725	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATTTAATATTGAAGTGCAAGC	0.408																																						ENST00000432829.2		NA																	0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1969-1971)Gaa>Caa		dedicator of cytokinesis 8							140.0	136.0	137.0					9																	376273		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376273G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2173G>C	9.37:g.376273G>C	ENSP00000408464:p.Glu725Gln	False	False		Somatic	0				DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q|DOCK8_ENST00000453981.1_Missense_Mutation_p.E725Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q	p.E657Q	NM_203447.3	NP_982272.2	WXS	Illumina HiSeq	Phase_I	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2285	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	725					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1969G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176915	0.78564	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.56769	1.78	0.80722	D	1	D;B;P;B	0.76494	0.999;0.255;0.534;0.361	D;B;B;B	0.66847	0.947;0.314;0.369;0.393	T	0.58059	-0.7703	10	0.27785	T	0.31	.	19.8078	0.96537	0.0:0.0:1.0:0.0	.	27;657;192;725	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	Q	725;725;657;657;27;192	ENSP00000408464:E725Q;ENSP00000394888:E657Q;ENSP00000419438:E657Q;ENSP00000371768:E27Q;ENSP00000371766:E192Q	ENSP00000287364:E725Q	E	+	1	0	DOCK8	366273	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.675000	0.98638	2.661000	0.90470	0.650000	0.86243	GAA		0.408	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	XM_036307		9:376273
AGO4	192670	broad.mit.edu	37	1	36316600	36316600	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:36316600C>T	ENST00000373210.3	+	17	2668	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	808	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GCATATTATGCCCGGCTTGTA	0.448																																						ENST00000373210.3		NA																	0					NA						c.(2422-2424)gCc>gTc		argonaute RISC catalytic component 4							84.0	75.0	78.0					1																	36316600		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36316600C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2423C>T	1.37:g.36316600C>T	ENSP00000362306:p.Ala808Val	True	False		Somatic	0				AGO4_ENST00000488778.1_3'UTR	p.A808V	NM_017629.3	NP_060099.2	WXS	Illumina HiSeq	Phase_I					17	2668	+			NA					A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2423C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154555	0.94686	.	.	ENSG00000134698	ENST00000373210	T	0.57595	0.39	5.4	5.4	0.78164	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92136	0.5716	10	0.87932	D	0	-11.3471	19.1712	0.93578	0.0:1.0:0.0:0.0	.	808	Q9HCK5	AGO4_HUMAN	V	808	ENSP00000362306:A808V	ENSP00000362306:A808V	A	+	2	0	EIF2C4	36089187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.526000	0.85167	0.591000	0.81541	GCC		0.448	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	0	NM_017629		1:36316600
GEMIN5	25929	broad.mit.edu	37	5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	639					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATCTTGGCCGTATGCCCTGA	0.522																																						ENST00000285873.7		NA																	0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1915-1917)aCg>aTg		gem (nuclear organelle) associated protein 5							116.0	101.0	106.0					5																	154292538		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154292538G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1916C>T	5.37:g.154292538G>A	ENSP00000285873:p.Thr639Met	False	False		Somatic	0					p.T639M	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	WXS	Illumina HiSeq	Phase_I	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		14	1991	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	639					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.1916C>T	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766113	0.69878	.	.	ENSG00000082516	ENST00000285873	T	0.65549	-0.16	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82647	-0.0354	10	0.87932	D	0	-17.564	19.0919	0.93229	0.0:0.0:1.0:0.0	.	638;639	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	639	ENSP00000285873:T639M	ENSP00000285873:T639M	T	-	2	0	GEMIN5	154272731	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.881000	0.92415	2.667000	0.90743	0.561000	0.74099	ACG		0.522	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1	0			5:154292538
CASKIN2	57513	broad.mit.edu	37	17	73498943	73498943	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:73498943G>A	ENST00000321617.3	-	18	2798	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	738	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTAGGGGGCCGCTCTGTGCCC	0.657																																						ENST00000321617.3		NA																	0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2212-2214)Cgg>Tgg		CASK interacting protein 2							19.0	21.0	21.0					17																	73498943		2124	4205	6329	SO:0001583	missense	57513					cytoplasm		g.chr17:73498943G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2212C>T	17.37:g.73498943G>A	ENSP00000325355:p.Arg738Trp	False	False		Somatic	0				CASKIN2_ENST00000433559.2_Missense_Mutation_p.R656W	p.R738W	NM_020753.3	NP_065804.2	WXS	Illumina HiSeq	Phase_I	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2798	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		738			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2212C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079834	0.55753	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71103	-0.54;-0.36	4.81	1.54	0.23209	.	0.386982	0.19123	N	0.122125	T	0.55146	0.1902	N	0.22421	0.69	0.29131	N	0.879632	B	0.25486	0.127	B	0.12837	0.008	T	0.52465	-0.8572	10	0.66056	D	0.02	.	13.4363	0.61086	0.0:0.0:0.5886:0.4113	.	738	Q8WXE0	CSKI2_HUMAN	W	738;656	ENSP00000325355:R738W;ENSP00000406963:R656W	ENSP00000325355:R738W	R	-	1	2	CASKIN2	71010538	1.000000	0.71417	0.896000	0.35187	0.625000	0.37756	2.813000	0.48002	0.193000	0.20303	0.561000	0.74099	CGG		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	0	NM_020753		17:73498943
CDHR2	54825	broad.mit.edu	37	5	176003158	176003158	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:176003158T>A	ENST00000510636.1	+	12	1440	c.1166T>A	c.(1165-1167)cTc>cAc	p.L389H	CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H|CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	389	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATCGATGACCTCACCATGGTG	0.667																																						ENST00000510636.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1165-1167)cTc>cAc		cadherin-related family member 2							66.0	57.0	60.0					5																	176003158		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176003158T>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1166T>A	5.37:g.176003158T>A	ENSP00000424565:p.Leu389His	False	False		Somatic	0				CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H|CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H	p.L389H	NM_001171976.1	NP_001165447.1	WXS	Illumina HiSeq	Phase_I	Q9BYE9	CDHR2_HUMAN			12	1440	+			389			Cadherin 4.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1166T>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792906	0.70452	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.63255	-0.03;-0.03;-0.03	4.54	4.54	0.55810	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79879	0.4522	M	0.91972	3.26	0.53688	D	0.999978	D	0.67145	0.996	P	0.60345	0.873	D	0.84655	0.0703	9	0.87932	D	0	-24.7678	12.2853	0.54789	0.0:0.0:0.0:1.0	.	389	Q9BYE9	CDHR2_HUMAN	H	389	ENSP00000424565:L389H;ENSP00000261944:L389H;ENSP00000421078:L389H	ENSP00000261944:L389H	L	+	2	0	CDHR2	175935764	1.000000	0.71417	0.971000	0.41717	0.555000	0.35460	4.560000	0.60802	1.910000	0.55303	0.448000	0.29417	CTC		0.667	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	0	NM_017675		5:176003158
KAT6B	23522	broad.mit.edu	37	10	76788861	76788861	+	Missense_Mutation	SNP	G	G	A	rs533156310		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:76788861G>A	ENST00000287239.4	+	18	4768	c.4279G>A	c.(4279-4281)Gat>Aat	p.D1427N	KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1427					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCATGATGCCGATGACGAGGA	0.493																																						ENST00000287239.4		NA																	0					NA						c.(4279-4281)Gat>Aat		K(lysine) acetyltransferase 6B							86.0	88.0	87.0					10																	76788861		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788861G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4279G>A	10.37:g.76788861G>A	ENSP00000287239:p.Asp1427Asn	False	False		Somatic	0				KAT6B_ENST00000372711.1_Missense_Mutation_p.D1244N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1135N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1135N	p.D1427N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina HiSeq	Phase_I	Q8WYB5	MYST4_HUMAN			18	4768	+			1427					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4279G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577292	0.28092	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;D;T;T	0.81659	-1.47;-1.47;-1.52;-1.47;-1.49	4.81	4.81	0.61882	.	0.000000	0.51477	D	0.000087	D	0.87553	0.6206	L	0.55990	1.75	0.48830	D	0.999717	D;D;D	0.89917	0.999;0.976;1.0	D;P;D	0.76575	0.988;0.601;0.981	D	0.88934	0.3375	10	0.72032	D	0.01	-11.3528	17.489	0.87698	0.0:0.0:1.0:0.0	.	1244;1135;1427	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	1135;1135;1427;1135;1244	ENSP00000361810:D1135N;ENSP00000361809:D1135N;ENSP00000287239:D1427N;ENSP00000361799:D1135N;ENSP00000361796:D1244N	ENSP00000287239:D1427N	D	+	1	0	KAT6B	76458867	1.000000	0.71417	0.307000	0.25127	0.008000	0.06430	6.045000	0.71020	2.224000	0.72417	0.655000	0.94253	GAT		0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	0	NM_012330		10:76788861
MYLK	4638	broad.mit.edu	37	3	123333078	123333078	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:123333078G>A	ENST00000475616.1	-	31	5618	c.5619C>T	c.(5617-5619)tgC>tgT	p.C1873C	MYLK_ENST00000346322.5_Silent_p.C1804C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK-AS1_ENST00000485162.1_RNA|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK_ENST00000360772.3_Silent_p.C1822C|MYLK_ENST00000359169.1_Silent_p.C1822C			Q15746	MYLK_HUMAN	myosin light chain kinase	1873	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498																																						ENST00000360772.3		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5464-5466)tgC>tgT		myosin light chain kinase							189.0	187.0	188.0					3																	123333078		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333078G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5619C>T	3.37:g.123333078G>A		True	False		Somatic	0				MYLK_ENST00000475616.1_Silent_p.C1873C|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000583087.1_Silent_p.C113C|MYLK_ENST00000354792.5_Silent_p.C673C|MYLK_ENST00000360304.3_Silent_p.C1873C|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000578202.1_Silent_p.C112C|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000359169.1_Silent_p.C1822C|MYLK_ENST00000418370.2_Silent_p.C113C|MYLK_ENST00000346322.5_Silent_p.C1804C	p.C1822C			WXS	Illumina HiSeq	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5844	-		Lung NSC(201;0.0496)	1873			Ig-like C2-type 9.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5466C>T	CCDS46896.1																																																																																				0.498	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	NM_053025		3:123333078
LGALS9B	284194	broad.mit.edu	37	17	20363711	20363711	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:20363711A>G	ENST00000423676.3	-	2	148	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.F29L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	29	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GTGATCTGAAATCCGTCCTGG	0.572																																						ENST00000423676.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(85-87)Ttt>Ctt		lectin, galactoside-binding, soluble, 9B							148.0	125.0	133.0					17																	20363711		2202	4297	6499	SO:0001583	missense	284194						sugar binding	g.chr17:20363711A>G		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.85T>C	17.37:g.20363711A>G	ENSP00000388841:p.Phe29Leu	True	False		Somatic	0				LGALS9B_ENST00000324290.5_Missense_Mutation_p.F29L	p.F29L			WXS	Illumina HiSeq	Phase_I	Q3B8N2	LEG9B_HUMAN			2	148	-			29			Galectin 1.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.85T>C		.	.	.	.	.	.	.	.	.	.	a	0.003	-2.416495	0.00188	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	T;T	0.05081	3.5;3.5	2.33	1.32	0.21799	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.412829	0.22669	N	0.057097	T	0.00936	0.0031	N	0.00072	-2.265	0.22771	N	0.99875	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45308	-0.9270	10	0.06891	T	0.86	.	5.3611	0.16087	0.1767:0.0:0.8233:0.0	.	29;29	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	L	29	ENSP00000388841:F29L;ENSP00000315564:F29L	ENSP00000315564:F29L	F	-	1	0	LGALS9B	20304303	0.979000	0.34478	0.245000	0.24217	0.100000	0.18952	2.325000	0.43840	0.316000	0.23135	-1.366000	0.01203	TTT		0.572	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	0	NM_001042685		17:20363711
DDX43	55510	broad.mit.edu	37	6	74115486	74115486	+	Silent	SNP	C	C	T	rs369730596		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:74115486C>T	ENST00000370336.4	+	6	893	c.735C>T	c.(733-735)gaC>gaT	p.D245D	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	245					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATTTGATGACGCCTTTCAAT	0.353																																						ENST00000370336.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(733-735)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43		C		0,4406		0,0,2203	93.0	86.0	88.0		735	1.4	1.0	6		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DDX43	NM_018665.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		245/649	74115486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74115486C>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.735C>T	6.37:g.74115486C>T		False	False		Somatic	0				DDX43_ENST00000539829.1_3'UTR	p.D245D	NM_018665.2	NP_061135.2	WXS	Illumina HiSeq	Phase_I	Q9NXZ2	DDX43_HUMAN			6	893	+			245					B4E0C8|Q6NXR1	Silent	SNP	ENST00000370336.4	37	c.735C>T	CCDS4977.1																																																																																				0.353	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	0	NM_018665		6:74115486
PCDHB7	56129	broad.mit.edu	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGGAGGCGGCCCCGGAC	0.692																																						ENST00000231137.3		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2026-2028)gCg>gTg									48.0	79.0	68.0					5																	140554443		2185	4283	6468	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554443C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2027C>T	5.37:g.140554443C>T	ENSP00000231137:p.Ala676Val	False	False		Somatic	0					p.A676V	NM_018940.2	NP_061763.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2201	+			676					A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2027C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	NM_018940		5:140554443
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	221	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAACTCATGCGCAGCAACAAG	0.423													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17489	0.0		0.0	False		,,,				2504	0.0					ENST00000260302.3		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(661-663)gCg>gTg		matrix metallopeptidase 13 (collagenase 3)		G	VAL/ALA	3,4401	8.1+/-20.4	0,3,2199	140.0	135.0	137.0		662	5.8	1.0	11	dbSNP_134	137	0,8598		0,0,4299	yes	missense	MMP13	NM_002427.3	64	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	221/472	102822878	3,12999	2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822878G>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.662C>T	11.37:g.102822878G>A	ENSP00000260302:p.Ala221Val	False	False		Somatic	0				MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	p.A221V	NM_002427.3	NP_002418.1	WXS	Illumina HiSeq	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	690	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	221					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.662C>T	CCDS8324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.655859	0.96724	6.81E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.093477	0.64402	D	0.000001	T	0.48277	0.1491	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32955	-0.9887	10	0.59425	D	0.04	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	221	P45452	MMP13_HUMAN	V	221	ENSP00000260302:A221V;ENSP00000339672:A221V	ENSP00000260302:A221V	A	-	2	0	MMP13	102328088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.866000	0.98385	0.650000	0.86243	GCG		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	NM_002427		11:102822878
RHOT2	89941	broad.mit.edu	37	16	721954	721954	+	Missense_Mutation	SNP	G	G	A	rs543941700		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:721954G>A	ENST00000315082.4	+	13	1163	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	350					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CGCACAGTCCGCACAGAGGCC	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10655	0.0		0.0	False		,,,				2504	0.001					ENST00000315082.4		NA																	0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1048-1050)cGc>cAc		ras homolog family member T2							48.0	60.0	56.0					16																	721954		2201	4297	6498	SO:0001583	missense	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:721954G>A	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1049G>A	16.37:g.721954G>A	ENSP00000321971:p.Arg350His	False	False		Somatic	0					p.R350H	NM_138769.2	NP_620124.1	WXS	Illumina HiSeq	Phase_I	Q8IXI1	MIRO2_HUMAN			13	1163	+		Hepatocellular(780;0.0218)	350					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Missense_Mutation	SNP	ENST00000315082.4	37	c.1049G>A	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319598	0.41096	.	.	ENSG00000140983	ENST00000315082	T	0.10099	2.91	5.31	2.09	0.27110	EF hand associated, type-1 (1);	0.488085	0.25897	N	0.027587	T	0.10380	0.0254	N	0.22421	0.69	0.20403	N	0.999906	P	0.44006	0.824	P	0.44477	0.451	T	0.10497	-1.0627	10	0.44086	T	0.13	-4.7154	15.1832	0.72975	0.0:0.4165:0.5835:0.0	.	350	Q8IXI1	MIRO2_HUMAN	H	350	ENSP00000321971:R350H	ENSP00000321971:R350H	R	+	2	0	RHOT2	661955	0.971000	0.33674	0.002000	0.10522	0.006000	0.05464	1.740000	0.38228	0.186000	0.20125	0.456000	0.33151	CGC		0.692	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	0	NM_138769		16:721954
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val	False	False		Somatic	0					p.A304V	NM_002563.3	NP_002554.1	WXS	Illumina HiSeq	Phase_I	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	0	NM_002563		3:152554482
LRCH3	84859	broad.mit.edu	37	3	197562598	197562598	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197562598G>C	ENST00000425562.2	+	9	1156	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LRCH3_ENST00000438796.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	386	Poly-Glu.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CGCAGAGGAAGAGGAGGCCGA	0.502																																						ENST00000438796.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1156-1158)Gag>Cag		leucine-rich repeats and calponin homology (CH) domain containing 3							142.0	124.0	130.0					3																	197562598		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197562598G>C	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1156G>C	3.37:g.197562598G>C	ENSP00000393579:p.Glu386Gln	True	False		Somatic	0				LRCH3_ENST00000425562.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q	p.E386Q			WXS	Illumina HiSeq	Phase_I	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	9	1200	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		386			Poly-Glu.		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1156G>C		.	.	.	.	.	.	.	.	.	.	G	24.0	4.481581	0.84747	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.38401	1.89;1.14;1.91;2.14;1.91	5.27	5.27	0.74061	.	0.057940	0.64402	D	0.000004	T	0.40222	0.1108	L	0.34521	1.04	0.80722	D	1	D;D;P;B	0.60160	0.987;0.958;0.817;0.27	P;P;P;B	0.52424	0.698;0.697;0.686;0.398	T	0.04621	-1.0938	10	0.16420	T	0.52	-10.8516	19.2996	0.94138	0.0:0.0:1.0:0.0	.	260;386;386;386	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	Q	386;260;386;386;386	ENSP00000399751:E386Q;ENSP00000394609:E260Q;ENSP00000394965:E386Q;ENSP00000334375:E386Q;ENSP00000393579:E386Q	ENSP00000334375:E386Q	E	+	1	0	LRCH3	199046995	1.000000	0.71417	0.957000	0.39632	0.888000	0.51559	8.533000	0.90617	2.642000	0.89623	0.644000	0.83932	GAG		0.502	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	0	NM_032773		3:197562598
TAP1	6890	broad.mit.edu	37	6	32818230	32818230	+	Missense_Mutation	SNP	G	G	A	rs147332077		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:32818230G>A	ENST00000354258.4	-	5	1456	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TAP1_ENST00000425148.2_Missense_Mutation_p.S171L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	432	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	AGGCATGGCCGACAGAGCCTC	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20882	0.0		0.0	False		,,,				2504	0.0					ENST00000354258.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(1294-1296)tCg>tTg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)		G	LEU/SER	6,4400	9.9+/-24.2	0,6,2197	80.0	84.0	82.0		1295	5.7	1.0	6	dbSNP_134	82	0,8600		0,0,4300	yes	missense	TAP1	NM_000593.5	145	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	possibly-damaging	432/809	32818230	6,13000	2203	4300	6503	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32818230G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1295C>T	6.37:g.32818230G>A	ENSP00000346206:p.Ser432Leu	False	False		Somatic	0				PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.S171L	p.S432L	NM_000593.5	NP_000584.2	WXS	Illumina HiSeq	Phase_I	Q03518	TAP1_HUMAN			5	1456	-			432			ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.1295C>T	CCDS4758.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.420836	0.96111	0.001362	0.0	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91068	-2.78;-2.78	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38436	N	0.001686	D	0.92734	0.7690	M	0.79805	2.47	0.80722	D	1	P	0.52842	0.956	P	0.52189	0.692	D	0.93356	0.6722	10	0.72032	D	0.01	-5.2332	17.381	0.87405	0.0:0.0:1.0:0.0	.	432	Q03518	TAP1_HUMAN	L	432;171	ENSP00000346206:S432L;ENSP00000401919:S171L	ENSP00000346206:S432L	S	-	2	0	TAP1	32926208	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	5.503000	0.66962	2.706000	0.92434	0.643000	0.83706	TCG		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	0	NM_000593		6:32818230
MYO16	23026	broad.mit.edu	37	13	109779895	109779895	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:109779895G>A	ENST00000357550.2	+	30	4023	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYO16_ENST00000457511.2_Missense_Mutation_p.E840K|MYO16_ENST00000356711.2_Missense_Mutation_p.E1328K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGCGGCCAACGAAGGTCAGCC	0.662																																						ENST00000356711.2		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3982-3984)Gaa>Aaa		myosin XVI							16.0	19.0	18.0					13																	109779895		2198	4295	6493	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779895G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3982G>A	13.37:g.109779895G>A	ENSP00000350160:p.Glu1328Lys	False	False		Somatic	0				MYO16_ENST00000457511.2_Missense_Mutation_p.E840K|MYO16_ENST00000357550.2_Missense_Mutation_p.E1328K	p.E1328K	NM_015011.1	NP_055826.1	WXS	Illumina HiSeq	Phase_I	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4108	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1328						Missense_Mutation	SNP	ENST00000357550.2	37	c.3982G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151349	0.57151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42900	0.96;0.96;0.96	5.09	5.09	0.68999	.	0.000000	0.38605	U	0.001637	T	0.50394	0.1613	M	0.67953	2.075	0.48571	D	0.999678	D;D	0.59767	0.986;0.985	P;B	0.47705	0.555;0.41	T	0.53330	-0.8454	9	.	.	.	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	840;1328	F8W883;Q9Y6X6	.;MYO16_HUMAN	K	1328;1328;840	ENSP00000349145:E1328K;ENSP00000350160:E1328K;ENSP00000401633:E840K	.	E	+	1	0	MYO16	108577896	1.000000	0.71417	0.922000	0.36590	0.090000	0.18270	5.411000	0.66386	2.367000	0.80283	0.563000	0.77884	GAA		0.662	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	0	NM_015011		13:109779895
BEND2	139105	broad.mit.edu	37	X	18195833	18195833	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:18195833C>T	ENST00000380033.4	-	10	1618	c.1486G>A	c.(1486-1488)Gta>Ata	p.V496I	BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	496	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATTTTGTACGGCCAGCAAA	0.383																																						ENST00000380033.4		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1486-1488)Gta>Ata		BEN domain containing 2							244.0	230.0	235.0					X																	18195833		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18195833C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1486G>A	X.37:g.18195833C>T	ENSP00000369372:p.Val496Ile	False	False		Somatic	0				BEND2_ENST00000380030.3_Missense_Mutation_p.V405I	p.V496I	NM_153346.4	NP_699177.2	WXS	Illumina HiSeq	Phase_I	Q8NDZ0	BEND2_HUMAN			10	1618	-			496			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1486G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611613	0.28712	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.24723	1.86;1.84	5.39	4.53	0.55603	BEN domain (1);	0.172175	0.36409	N	0.002601	T	0.15912	0.0383	L	0.29908	0.895	0.09310	N	1	P;P	0.44946	0.846;0.846	B;B	0.31869	0.137;0.137	T	0.07501	-1.0769	10	0.49607	T	0.09	-2.2856	12.4523	0.55684	0.0:0.9153:0.0:0.0847	.	405;496	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	I	496;405	ENSP00000369372:V496I;ENSP00000369369:V405I	ENSP00000369369:V405I	V	-	1	0	BEND2	18105754	0.953000	0.32496	0.006000	0.13384	0.002000	0.02628	2.330000	0.43885	1.066000	0.40716	-0.190000	0.12839	GTA		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	0	NM_153346		X:18195833
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578190
SLC5A12	159963	broad.mit.edu	37	11	26743035	26743035	+	Missense_Mutation	SNP	C	C	T	rs142065702		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:26743035C>T	ENST00000396005.3	-	1	536	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	76					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.R76L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCCCAAAGCGGTAGACTTC	0.512																																						ENST00000396005.3		NA																	2	Substitution - Missense(2)	p.R76L(2)	lung(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(226-228)cGc>cAc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	92.0	92.0		227	5.6	1.0	11	dbSNP_134	92	0,8598		0,0,4299	no	missense	SLC5A12	NM_178498.3	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	76/619	26743035	1,13003	2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743035C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.227G>A	11.37:g.26743035C>T	ENSP00000379326:p.Arg76His	False	False		Somatic	0				SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	p.R76H	NM_178498.3	NP_848593.2	WXS	Illumina HiSeq	Phase_I	Q1EHB4	SC5AC_HUMAN			1	536	-			76					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.227G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467643	0.63625	2.27E-4	0.0	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87966	-2.32;-2.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	M	0.73962	2.25	0.53688	D	0.99997	B;P	0.50617	0.227;0.937	B;P	0.47015	0.082;0.534	D	0.88612	0.3157	10	0.35671	T	0.21	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	76;76	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	H	76	ENSP00000379326:R76H;ENSP00000280467:R76H	ENSP00000280467:R76H	R	-	2	0	SLC5A12	26699611	0.985000	0.35326	1.000000	0.80357	0.898000	0.52572	2.683000	0.46943	2.643000	0.89663	0.585000	0.79938	CGC		0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	0	NM_178498		11:26743035
RBM38	55544	broad.mit.edu	37	20	55966783	55966783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:55966783C>A	ENST00000356208.5	+	1	321	c.146C>A	c.(145-147)tCg>tAg	p.S49*	RBM38_ENST00000371219.2_5'Flank|RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*|RP4-800J21.3_ENST00000417346.1_RNA	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	49	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			ACCGACGCCTCGCTCAGGAAG	0.677																																						ENST00000356208.5		NA																	0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(145-147)tCg>tAg		RNA binding motif protein 38							14.0	19.0	17.0					20																	55966783		1946	4113	6059	SO:0001587	stop_gained	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55966783C>A	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.146C>A	20.37:g.55966783C>A	ENSP00000348538:p.Ser49*	False	False		Somatic	0				RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*	p.S49*	NM_017495.5	NP_059965.2	WXS	Illumina HiSeq	Phase_I	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		1	321	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		49			RRM.		A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Nonsense_Mutation	SNP	ENST00000356208.5	37	c.146C>A	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322144	0.81580	.	.	ENSG00000132819	ENST00000356208;ENST00000440234	.	.	.	3.49	3.49	0.39957	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6071	13.737	0.62824	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000343718:S49X	S	+	2	0	RBM38	55400189	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	1.488000	0.35551	1.500000	0.48636	0.442000	0.29010	TCG		0.677	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	0	NM_183425		20:55966783
COIL	8161	broad.mit.edu	37	17	55019406	55019406	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:55019406T>A	ENST00000240316.4	-	6	1671	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	546	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTGCTCTCCTGTGTCACAGC	0.468																																						ENST00000240316.4		NA																	0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1636-1638)cAg>cTg		coilin							164.0	140.0	148.0					17																	55019406		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55019406T>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1637A>T	17.37:g.55019406T>A	ENSP00000240316:p.Gln546Leu	False	False		Somatic	0					p.Q546L	NM_004645.2	NP_004636.1	WXS	Illumina HiSeq	Phase_I	P38432	COIL_HUMAN			6	1671	-	Breast(9;6.15e-08)		546					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1637A>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317803	0.81469	.	.	ENSG00000121058	ENST00000240316	T	0.36699	1.24	4.89	4.89	0.63831	.	0.065204	0.64402	D	0.000004	T	0.51176	0.1659	M	0.70275	2.135	0.49915	D	0.999837	D	0.54047	0.964	P	0.54346	0.749	T	0.57183	-0.7855	10	0.87932	D	0	-15.4194	13.0734	0.59074	0.0:0.0:0.0:1.0	.	546	P38432	COIL_HUMAN	L	546	ENSP00000240316:Q546L	ENSP00000240316:Q546L	Q	-	2	0	COIL	52374405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.499000	0.45372	1.962000	0.57031	0.455000	0.32223	CAG		0.468	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1	0			17:55019406
FAM86A	196483	broad.mit.edu	37	16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562																																						ENST00000427587.4		NA																	0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(901-903)Ggg>Agg		family with sequence similarity 86, member A							115.0	106.0	109.0					16																	5135725		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5135725C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.901G>A	16.37:g.5135725C>T	ENSP00000398502:p.Gly301Arg	True	False		Somatic	0				FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R	p.G301R	NM_201400.2	NP_958802.1	WXS	Illumina HiSeq	Phase_I	Q96G04	FA86A_HUMAN			8	969	-			301					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.901G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968842	0.34754	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.32023	1.47;1.47	4.36	2.41	0.29592	.	1.680010	0.03534	U	0.222902	T	0.27278	0.0669	L	0.36672	1.1	0.30917	N	0.728407	P;B	0.35700	0.516;0.157	B;B	0.34138	0.176;0.067	T	0.29212	-1.0019	10	0.49607	T	0.09	.	7.6181	0.28169	0.0:0.801:0.0:0.199	.	267;301	Q96G04-2;Q96G04	.;FA86A_HUMAN	R	267;301	ENSP00000389710:G267R;ENSP00000398502:G301R	ENSP00000398502:G301R	G	-	1	0	FAM86A	5075726	0.884000	0.30299	0.088000	0.20740	0.153000	0.21895	1.539000	0.36104	0.595000	0.29777	0.484000	0.47621	GGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	0	NM_201400		16:5135725
LTBP1	4052	broad.mit.edu	37	2	33487847	33487847	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:33487847C>T	ENST00000404816.2	+	14	2830	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	826					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCCAGCTGTCTCCAGGCATT	0.398																																						ENST00000404816.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2476-2478)tCt>tTt		latent transforming growth factor beta binding protein 1							78.0	79.0	79.0					2																	33487847		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33487847C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2477C>T	2.37:g.33487847C>T	ENSP00000386043:p.Ser826Phe	False	False		Somatic	0				LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F	p.S826F			WXS	Illumina HiSeq	Phase_I	Q14766	LTBP1_HUMAN			14	2830	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	826					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2477C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372043	0.82573	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	D;T;T;T;T;T;T;T;T	0.81659	-1.52;-1.48;-1.42;-1.39;-1.4;-1.39;-1.4;1.66;0.2	5.29	5.29	0.74685	.	.	.	.	.	D	0.87030	0.6076	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.999;0.947;0.999;0.999;0.999	D	0.85468	0.1171	9	0.35671	T	0.21	.	18.0174	0.89246	0.0:1.0:0.0:0.0	.	826;500;447;500;500;826	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	826;826;500;500;447;447;500;154;143	ENSP00000386043:S826F;ENSP00000346467:S826F;ENSP00000374653:S500F;ENSP00000393057:S500F;ENSP00000384373:S447F;ENSP00000385359:S447F;ENSP00000384091:S500F;ENSP00000415412:S154F;ENSP00000417591:S143F	ENSP00000346467:S826F	S	+	2	0	LTBP1	33341351	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.160000	0.71862	2.490000	0.84030	0.650000	0.86243	TCT		0.398	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	0	NM_206943		2:33487847
FNDC1	84624	broad.mit.edu	37	6	159646578	159646578	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159646578T>C	ENST00000297267.9	+	8	1096	c.896T>C	c.(895-897)gTg>gCg	p.V299A	FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	299	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAGTACACCGTGCGCTATCGA	0.463																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(895-897)gTg>gCg		fibronectin type III domain containing 1							238.0	236.0	237.0					6																	159646578		1976	4164	6140	SO:0001583	missense	84624					extracellular region		g.chr6:159646578T>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.896T>C	6.37:g.159646578T>C	ENSP00000297267:p.Val299Ala	False	False		Somatic	0				FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A	p.V299A	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	8	1096	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	299			Fibronectin type-III 3.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.896T>C	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101834	0.76983	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.68624	-0.34;-0.34	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	M	0.86028	2.79	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84681	0.0717	10	0.87932	D	0	-20.4318	16.2108	0.82158	0.0:0.0:0.0:1.0	.	299;299	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	A	299	ENSP00000297267:V299A;ENSP00000342460:V299A	ENSP00000297267:V299A	V	+	2	0	FNDC1	159566566	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.603000	0.82811	2.232000	0.73038	0.533000	0.62120	GTG		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159646578
ZNF528	84436	broad.mit.edu	37	19	52919334	52919334	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52919334G>C	ENST00000360465.3	+	7	1655	c.1229G>C	c.(1228-1230)gGa>gCa	p.G410A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGACCTTATGGATGCAGTCAG	0.403																																						ENST00000360465.3		NA																	0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1228-1230)gGa>gCa		zinc finger protein 528							75.0	76.0	76.0					19																	52919334		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919334G>C	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1229G>C	19.37:g.52919334G>C	ENSP00000353652:p.Gly410Ala	False	False		Somatic	0				ZNF528_ENST00000391788.2_3'UTR	p.G410A	NM_032423.2	NP_115799.2	WXS	Illumina HiSeq	Phase_I	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1655	+			410					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1229G>C	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696068	0.15106	.	.	ENSG00000167555	ENST00000360465	T	0.35048	1.33	2.08	0.998	0.19857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.00637	-1.305	0.09310	N	1	B	0.30709	0.291	B	0.29663	0.105	T	0.17806	-1.0357	9	0.44086	T	0.13	.	3.0495	0.06165	0.5844:0.2488:0.1668:0.0	.	410	Q3MIS6	ZN528_HUMAN	A	410	ENSP00000353652:G410A	ENSP00000353652:G410A	G	+	2	0	ZNF528	57611146	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.943000	0.03917	0.074000	0.16767	-0.302000	0.09304	GGA		0.403	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	0	NM_032423		19:52919334
ZNF789	285989	broad.mit.edu	37	7	99084376	99084376	+	Silent	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:99084376C>G	ENST00000331410.5	+	5	813	c.543C>G	c.(541-543)ccC>ccG	p.P181P	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGGCAAACCCTTCAATCAAA	0.428																																						ENST00000331410.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(541-543)ccC>ccG		zinc finger protein 789							108.0	102.0	104.0					7																	99084376		2203	4300	6503	SO:0001819	synonymous_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084376C>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.543C>G	7.37:g.99084376C>G		True	False		Somatic	0				ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	p.P181P	NM_213603.2	NP_998768.2	WXS	Illumina HiSeq	Phase_I	Q5FWF6	ZN789_HUMAN			5	813	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		181					A4D282|A6NH61|Q6ZMZ9	Silent	SNP	ENST00000331410.5	37	c.543C>G	CCDS34693.1																																																																																				0.428	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	0	NM_213603		7:99084376
GPR161	23432	broad.mit.edu	37	1	168066276	168066276	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:168066276G>A	ENST00000367838.1	-	5	882	c.569C>T	c.(568-570)gCc>gTc	p.A190V	GPR161_ENST00000367835.1_Missense_Mutation_p.A190V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	190					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGCCAGAAGGCCGTGTAGCC	0.592																																						ENST00000367838.1		NA																	0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(568-570)gCc>gTc		G protein-coupled receptor 161							71.0	60.0	64.0					1																	168066276		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066276G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.569C>T	1.37:g.168066276G>A	ENSP00000356812:p.Ala190Val	False	False		Somatic	0				GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V	p.A190V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	WXS	Illumina HiSeq	Phase_I	Q8N6U8	GP161_HUMAN			5	882	-	all_hematologic(923;0.215)		190					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.569C>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032295	0.35893	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.07	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.102442	0.64402	N	0.000003	T	0.30665	0.0772	N	0.16098	0.37	0.38353	D	0.944394	B;B;B;B;B;B	0.13145	0.001;0.007;0.006;0.002;0.001;0.001	B;B;B;B;B;B	0.17722	0.003;0.019;0.018;0.006;0.001;0.005	T	0.08146	-1.0736	9	0.30078	T	0.28	-16.4128	12.5826	0.56399	0.0834:0.0:0.9166:0.0	.	210;76;112;210;190;190	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	V	190;190;58;190;76;112;210;190	ENSP00000356812:A190V;ENSP00000271357:A190V;ENSP00000356810:A58V;ENSP00000356809:A190V;ENSP00000444348:A76V;ENSP00000437576:A112V;ENSP00000441039:A210V;ENSP00000355194:A190V	ENSP00000271357:A190V	A	-	2	0	GPR161	166332900	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	4.756000	0.62205	1.242000	0.43836	0.561000	0.74099	GCC		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	0	NM_007369		1:168066276
HSPE1	3336	broad.mit.edu	37	2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1_ENST00000409468.1_3'UTR	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5		NA																	0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118.0	123.0	121.0					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"""Heat Shock Proteins / Chaperonins"""	5269	protein-coding gene	gene with protein product	"""chaperonin 10"""	600141	"""heat shock 10kD protein 1 (chaperonin 10)"""			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile	False	False		Somatic	0				HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I	p.V101I	NM_002157.2	NP_002148.1	WXS	Illumina HiSeq	Phase_I			Epithelial(96;0.225)		4	744	+			NA					O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	0	NM_002157		2:198367975
ERBB3	2065	broad.mit.edu	37	12	56495712	56495712	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:56495712A>G	ENST00000267101.3	+	28	4342	c.3902A>G	c.(3901-3903)cAg>cGg	p.Q1301R	ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R|RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000303305.6_5'Flank|RP11-603J24.17_ENST00000548595.1_RNA	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1301					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGACATCAGGCCCCCCAT	0.537																																						ENST00000267101.3		NA																	0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(3901-3903)cAg>cGg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							107.0	117.0	113.0					12																	56495712		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495712A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3902A>G	12.37:g.56495712A>G	ENSP00000267101:p.Gln1301Arg	False	False		Somatic	0				RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R	p.Q1301R	NM_001982.3	NP_001973.2	WXS	Illumina HiSeq	Phase_I	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	4342	+			1301					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.3902A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	7.897	0.733645	0.15574	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78003	-1.0;-0.92;-0.99;-1.14;-0.88	5.39	4.26	0.50523	.	0.563354	0.17890	N	0.158548	T	0.56093	0.1962	N	0.14661	0.345	0.23855	N	0.996651	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	10	0.07482	T	0.82	.	8.109	0.30903	0.8379:0.0:0.1621:0.0	.	1242;421;1301	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	R	1301;658;1242;424;542;421	ENSP00000267101:Q1301R;ENSP00000399178:Q658R;ENSP00000408340:Q1242R;ENSP00000449129:Q542R;ENSP00000448729:Q421R	ENSP00000267101:Q1301R	Q	+	2	0	ERBB3	54781979	0.059000	0.20769	0.807000	0.32361	0.337000	0.28794	0.589000	0.23939	1.069000	0.40788	0.533000	0.62120	CAG		0.537	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3	0			12:56495712
LRP1	4035	broad.mit.edu	37	12	57594247	57594247	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:57594247G>A	ENST00000243077.3	+	63	10503	c.10037G>A	c.(10036-10038)tGc>tAc	p.C3346Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3346	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACGACAAGTGCATCCCCTTC	0.617																																						ENST00000243077.3		NA																	0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(10036-10038)tGc>tAc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						46.0	44.0	45.0					12																	57594247		2203	4299	6502	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57594247G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10037G>A	12.37:g.57594247G>A	ENSP00000243077:p.Cys3346Tyr	False	False		Somatic	0					p.C3346Y	NM_002332.2	NP_002323.2	WXS	Illumina HiSeq	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	63	10503	+			3346			LDL-receptor class A 21.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10037G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652311	0.67472	.	.	ENSG00000123384	ENST00000243077	D	0.99919	-8.0	4.56	4.56	0.56223	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96047	0.9028	10	0.59425	D	0.04	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	3346	Q07954	LRP1_HUMAN	Y	3346	ENSP00000243077:C3346Y	ENSP00000243077:C3346Y	C	+	2	0	LRP1	55880514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.765000	0.85310	2.386000	0.81285	0.555000	0.69702	TGC		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	0	NM_002332		12:57594247
ISX	91464	broad.mit.edu	37	22	35463185	35463185	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:35463185G>A	ENST00000308700.6	+	1	1057	c.105G>A	c.(103-105)gcG>gcA	p.A35A	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Silent_p.A35A	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	35					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CCATTGAGGCGATCCTAAAGA	0.602																																						ENST00000308700.6		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(103-105)gcG>gcA		intestine-specific homeobox							39.0	40.0	40.0					22																	35463185		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35463185G>A	AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"""Homeoboxes / PRD class"""	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.105G>A	22.37:g.35463185G>A		False	False		Somatic	0				RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Silent_p.A35A	p.A35A	NM_001008494.1	NP_001008494.1	WXS	Illumina HiSeq	Phase_I	Q2M1V0	ISX_HUMAN			1	1057	+			35					Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.105G>A	CCDS33640.1																																																																																				0.602	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	0	NM_001008494		22:35463185
UBA6	55236	broad.mit.edu	37	4	68501258	68501258	+	Silent	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:68501258T>C	ENST00000322244.5	-	20	1814	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	585					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAGAGGCCTTAGATTTGCTA	0.358																																						ENST00000322244.5		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1753-1755)ctA>ctG		ubiquitin-like modifier activating enzyme 6							103.0	96.0	98.0					4																	68501258		2203	4300	6503	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68501258T>C	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1755A>G	4.37:g.68501258T>C		False	False		Somatic	0					p.L585L	NM_018227.5	NP_060697.4	WXS	Illumina HiSeq	Phase_I	A0AVT1	UBA6_HUMAN			20	1814	-			NA					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.1755A>G	CCDS3516.1																																																																																				0.358	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	0	NM_018227		4:68501258
FOXP2	93986	broad.mit.edu	37	7	114303542	114303542	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:114303542G>T	ENST00000393494.2	+	15	2086	c.1807G>T	c.(1807-1809)Ggc>Tgc	p.G603C	FOXP2_ENST00000408937.3_Missense_Mutation_p.G628C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C			O15409	FOXP2_HUMAN	forkhead box P2	603					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TACCAGTTTAGGCTATGGAGC	0.303																																						ENST00000408937.3		NA																	0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1882-1884)Ggc>Tgc		forkhead box P2							98.0	98.0	98.0					7																	114303542		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114303542G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1807G>T	7.37:g.114303542G>T	ENSP00000377132:p.Gly603Cys	False	False		Somatic	0				FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000393494.2_Missense_Mutation_p.G603C|FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C	p.G628C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	WXS	Illumina HiSeq	Phase_I	O15409	FOXP2_HUMAN			16	2256	+			603					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1882G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853517	0.51270	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92099	-2.71;-2.7;-2.71;-2.71;-2.79;-2.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95001	0.8382	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.959;0.996;0.998	D	0.95345	0.8441	10	0.72032	D	0.01	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	602;620;418;603;628	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	C	603;628;620;603;580;511;418	ENSP00000377132:G603C;ENSP00000386200:G628C;ENSP00000385069:G620C;ENSP00000265436:G603C;ENSP00000377129:G511C;ENSP00000377130:G418C	ENSP00000265436:G603C	G	+	1	0	FOXP2	114090778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.486000	0.83907	0.650000	0.86243	GGC		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	0	NM_014491		7:114303542
BHLHE22	27319	broad.mit.edu	37	8	65493724	65493724	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:65493724G>C	ENST00000321870.1	+	1	911	c.377G>C	c.(376-378)tGc>tCc	p.C126S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	126	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCCGCCCTTTGCCTCAAGTAC	0.746																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1		NA																	0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(376-378)tGc>tCc		basic helix-loop-helix family, member e22							4.0	5.0	5.0					8																	65493724		1552	3322	4874	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493724G>C	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.377G>C	8.37:g.65493724G>C	ENSP00000318799:p.Cys126Ser	True	False		Somatic	0				RP11-21C4.1_ENST00000517909.1_RNA	p.C126S	NM_152414.4	NP_689627.1	WXS	Illumina HiSeq	Phase_I	Q8NFJ8	BHE22_HUMAN			1	911	+			126			Gly-rich.			Missense_Mutation	SNP	ENST00000321870.1	37	c.377G>C	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029659	0.54790	.	.	ENSG00000180828	ENST00000321870	D	0.98747	-5.11	3.19	3.19	0.36642	.	0.153691	0.43747	U	0.000527	D	0.98065	0.9362	L	0.29908	0.895	0.50039	D	0.999844	D	0.71674	0.998	D	0.73708	0.981	D	0.98433	1.0583	10	0.59425	D	0.04	.	14.4812	0.67585	0.0:0.0:1.0:0.0	.	126	Q8NFJ8	BHE22_HUMAN	S	126	ENSP00000318799:C126S	ENSP00000318799:C126S	C	+	2	0	BHLHE22	65656278	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	5.668000	0.68074	1.787000	0.52448	0.455000	0.32223	TGC		0.746	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	0	NM_152414		8:65493724
GRHL2	79977	broad.mit.edu	37	8	102585988	102585988	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:102585988A>G	ENST00000251808.3	+	6	1165	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	276					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGACAGTTCTATGCCATAACA	0.507																																						ENST00000251808.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(826-828)tAt>tGt		grainyhead-like 2 (Drosophila)							93.0	76.0	82.0					8																	102585988		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102585988A>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.827A>G	8.37:g.102585988A>G	ENSP00000251808:p.Tyr276Cys	False	False		Somatic	0				GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	p.Y276C	NM_024915.3	NP_079191.2	WXS	Illumina HiSeq	Phase_I	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		6	1165	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		276					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.827A>G	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501570	0.85176	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.38401	1.14;1.14	5.7	5.7	0.88788	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78107	-0.2333	10	0.87932	D	0	-14.6055	15.9541	0.79871	1.0:0.0:0.0:0.0	.	276;276	B4DL28;Q6ISB3	.;GRHL2_HUMAN	C	276;260;276	ENSP00000251808:Y276C;ENSP00000379260:Y260C	ENSP00000251808:Y276C	Y	+	2	0	GRHL2	102655164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.167000	0.68274	0.528000	0.53228	TAT		0.507	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	0	NM_024915		8:102585988
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G		True	False		Somatic	0					p.P328P	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9090831
RTN3	10313	broad.mit.edu	37	11	63449189	63449189	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:63449189C>T	ENST00000377819.5	+	1	235	c.81C>T	c.(79-81)ggC>ggT	p.G27G	RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G|RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000540798.1_Silent_p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	27					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CGCCCGGCGGCGGCGGGAGCC	0.746																																						ENST00000377819.5		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(79-81)ggC>ggT		reticulon 3							10.0	14.0	13.0					11																	63449189		2093	4136	6229	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63449189C>T	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.81C>T	11.37:g.63449189C>T		True	False		Somatic	0				RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000341307.2_Silent_p.G27G|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000354497.4_Silent_p.G27G	p.G27G	NM_001265589.1	NP_001252518.1	WXS	Illumina HiSeq	Phase_I	O95197	RTN3_HUMAN			1	235	+			27					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.81C>T	CCDS58141.1																																																																																				0.746	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	0	NM_006054		11:63449189
TAOK1	57551	broad.mit.edu	37	17	27869675	27869675	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:27869675G>C	ENST00000261716.3	+	20	3160	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	881					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTTGACTCTGAAAGCATGAG	0.473																																						ENST00000261716.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2641-2643)Gaa>Caa		TAO kinase 1							158.0	154.0	156.0					17																	27869675		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27869675G>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2641G>C	17.37:g.27869675G>C	ENSP00000261716:p.Glu881Gln	True	False		Somatic	0				TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	p.E881Q	NM_020791.2	NP_065842.1	WXS	Illumina HiSeq	Phase_I	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		20	3160	+			881					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2641G>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650537	0.87958	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.57752	0.38;0.38	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.86178	2.8	0.27873	N	0.939969	D;D	0.89917	0.981;1.0	D;D	0.85130	0.932;0.997	T	0.73304	-0.4025	10	0.72032	D	0.01	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	733;881	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Q	881;733	ENSP00000261716:E881Q;ENSP00000438819:E733Q	ENSP00000261716:E881Q	E	+	1	0	TAOK1	24893801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.623000	0.88846	0.561000	0.74099	GAA		0.473	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	0	NM_020791		17:27869675
AMPD2	271	broad.mit.edu	37	1	110172959	110172959	+	Silent	SNP	G	G	A	rs368213563		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000393688.3_Silent_p.P631P|AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000358729.4_Silent_p.P675P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	750					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCGCTACCGGAGTACCTGT	0.617																																						ENST00000256578.3		NA																	0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2248-2250)ccG>ccA		adenosine monophosphate deaminase 2							155.0	158.0	157.0					1																	110172959		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172959G>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2250G>A	1.37:g.110172959G>A		False	False		Somatic	0				AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000393688.3_Silent_p.P631P	p.P750P	NM_004037.7	NP_004028.3	WXS	Illumina HiSeq	Phase_I	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	16	2610	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	750					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.2250G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.875|6.875	0.530795|0.530795	0.13127|0.13127	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000476688	.|.	.|.	.|.	4.66|4.66	-4.93|-4.93	0.03066|0.03066	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38735|0.38735	-0.9647|-0.9647	4|4	.|.	.|.	.|.	-21.0222|-21.0222	0.507|0.507	0.00589|0.00589	0.205:0.284:0.2159:0.2951|0.205:0.284:0.2159:0.2951	.|.	.|.	.|.	.|.	R|Q	721|139	.|.	.|.	G|R	+|+	1|2	0|0	AMPD2|AMPD2	109974482|109974482	0.000000|0.000000	0.05858|0.05858	0.630000|0.630000	0.29268|0.29268	0.705000|0.705000	0.40729|0.40729	-3.213000|-3.213000	0.00555|0.00555	-1.228000|-1.228000	0.02568|0.02568	-2.079000|-2.079000	0.00380|0.00380	GGA|CGG		0.617	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1	0			1:110172959
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3		NA																PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu	True	False		Somatic	0				TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	p.Q565L	NM_001017395.3	NP_001017395.2	WXS	Illumina HiSeq	Phase_I	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	NM_015008		3:129370592
B4GALNT3	283358	broad.mit.edu	37	12	662878	662878	+	Missense_Mutation	SNP	G	G	A	rs202219145		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:662878G>A	ENST00000266383.5	+	14	1802	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	597					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGTGGCGGCCGCAGGCCAGGA	0.617																																						ENST00000266383.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1789-1791)Gca>Aca		beta-1,4-N-acetyl-galactosaminyl transferase 3							35.0	34.0	35.0					12																	662878		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662878G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1789G>A	12.37:g.662878G>A	ENSP00000266383:p.Ala597Thr	False	False		Somatic	0					p.A597T	NM_173593.3	NP_775864.3	WXS	Illumina HiSeq	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1802	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		597					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1789G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	7.395	0.631635	0.14322	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32515	3.46;1.45	5.63	2.78	0.32641	.	0.762765	0.12432	N	0.469495	T	0.23886	0.0578	L	0.47716	1.5	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.001	T	0.30357	-0.9981	10	0.18276	T	0.48	-0.4872	7.5465	0.27770	0.0673:0.2194:0.601:0.1124	.	500;597	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	597;500	ENSP00000266383:A597T;ENSP00000322953:A500T	ENSP00000266383:A597T	A	+	1	0	B4GALNT3	533139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.620000	0.24403	0.309000	0.22966	-1.332000	0.01269	GCA		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	0	NM_173593		12:662878
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	rs372793754		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453																																						ENST00000409039.3		NA																	2	Substitution - Missense(2)	p.R224W(1)|p.R1632W(1)	kidney(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4894-4896)Cgg>Tgg		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,4018		0,0,2009	189.0	192.0	191.0		4894	4.3	0.6	12		191	1,8331		0,1,4165	no	missense	DNAH10	NM_207437.3	101	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1632/4472	124325980	1,12349	2009	4166	6175	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325980C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4894C>T	12.37:g.124325980C>T	ENSP00000386770:p.Arg1632Trp	True	False		Somatic	0					p.R1632W	NM_207437.3	NP_997320.2	WXS	Illumina HiSeq	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4919	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1632			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4894C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628344	0.28978	0.0	1.2E-4	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.23	4.33	0.51752	Dynein heavy chain, domain-2 (1);	0.404099	0.20619	U	0.088806	T	0.74168	0.3681	M	0.67397	2.05	0.09310	N	0.999997	D	0.76494	0.999	D	0.66979	0.948	T	0.65479	-0.6158	10	0.54805	T	0.06	.	11.2171	0.48833	0.1186:0.5932:0.2882:0.0	.	1632	Q8IVF4	DYH10_HUMAN	W	1632	ENSP00000386770:R1632W	ENSP00000386770:R1632W	R	+	1	2	DNAH10	122891933	0.255000	0.24002	0.606000	0.28943	0.075000	0.17131	1.122000	0.31295	1.201000	0.43203	0.561000	0.74099	CGG		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	0			12:124325980
SCN3A	6328	broad.mit.edu	37	2	165950907	165950907	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:165950907G>C	ENST00000360093.3	-	26	5004	c.4513C>G	c.(4513-4515)Cag>Gag	p.Q1505E	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1505					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTTTCTGAGGTTTCTTG	0.388																																						ENST00000360093.3		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4513-4515)Cag>Gag		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						351.0	336.0	341.0					2																	165950907		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165950907G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4513C>G	2.37:g.165950907G>C	ENSP00000353206:p.Gln1505Glu	False	False		Somatic	0				SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E	p.Q1505E	NM_001081677.1	NP_001075146.1	WXS	Illumina HiSeq	Phase_I	Q9NY46	SCN3A_HUMAN			26	5004	-			1505					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4513C>G		.	.	.	.	.	.	.	.	.	.	G	16.64	3.178549	0.57692	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96104	-3.91;-3.91;-3.84	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	D	0.97192	0.9082	H	0.94808	3.585	0.80722	D	1	P;P;B	0.47841	0.901;0.502;0.005	P;B;B	0.45881	0.496;0.118;0.019	D	0.98609	1.0662	10	0.72032	D	0.01	.	18.2045	0.89850	0.0:0.0:1.0:0.0	.	1456;1456;1505	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	E	1505;1505;1456	ENSP00000353206:Q1505E;ENSP00000283254:Q1505E;ENSP00000386726:Q1456E	ENSP00000283254:Q1505E	Q	-	1	0	SCN3A	165659153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.613000	0.88420	0.655000	0.94253	CAG		0.388	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_006922		2:165950907
CRHR1	1394	broad.mit.edu	37	17	43907805	43907805	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:43907805C>T	ENST00000398285.3	+	8	665	c.665C>T	c.(664-666)gCc>gTc	p.A222V	CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000314537.5_Missense_Mutation_p.A193V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	222					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGGTGACAGCCGCCTACAAC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5		NA																	0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(577-579)gCc>gTc		corticotropin releasing hormone receptor 1							58.0	62.0	61.0					17																	43907805		2195	4300	6495	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907805C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.665C>T	17.37:g.43907805C>T	ENSP00000381333:p.Ala222Val	False	False		Somatic	0				CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000398285.3_Missense_Mutation_p.A222V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V	p.A193V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	WXS	Illumina HiSeq	Phase_I	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	7	803	+	Colorectal(2;0.0416)		222					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.578C>T	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750172	0.49257	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.39406	1.19;1.08;1.19;1.19;1.19	5.27	5.27	0.74061	GPCR, family 2-like (1);	0.099034	0.64402	D	0.000001	T	0.25938	0.0632	N	0.04297	-0.235	0.50467	D	0.999875	B;B;B;P;B;B	0.42871	0.268;0.201;0.122;0.792;0.268;0.268	B;B;B;P;B;B	0.46419	0.26;0.088;0.082;0.516;0.135;0.192	T	0.06935	-1.0799	10	0.23891	T	0.37	.	9.92	0.41459	0.0:0.9073:0.0:0.0927	.	193;222;92;92;153;193	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	18;92;222;193;193;153	ENSP00000293493:A18V;ENSP00000340522:A92V;ENSP00000381333:A222V;ENSP00000326060:A193V;ENSP00000344068:A153V	ENSP00000293493:A18V	A	+	2	0	CRHR1	41263586	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	6.091000	0.71406	2.462000	0.83206	0.561000	0.74099	GCC		0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3	0			17:43907805
PRAMEF11	440560	broad.mit.edu	37	1	12887241	12887241	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:12887241G>A	ENST00000535591.1	-	3	811	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	206					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAACGTAGCGAGAGACATCC	0.493																																						ENST00000535591.1		NA																	0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(616-618)Cgc>Tgc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887241G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.616C>T	1.37:g.12887241G>A	ENSP00000439551:p.Arg206Cys	True	False		Somatic	0					p.R206C	NM_001146344.1	NP_001139816.1	WXS	Illumina HiSeq	Phase_I	O60813	PRA11_HUMAN			3	811	-			206						Missense_Mutation	SNP	ENST00000535591.1	37	c.616C>T	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	9.270	1.045480	0.19748	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.50813	0.73;0.73	1.14	-2.29	0.06805	.	1.275850	0.05537	N	0.565066	T	0.37679	0.1012	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.56916	0.809	T	0.10474	-1.0628	10	0.41790	T	0.15	.	0.2118	0.00157	0.2233:0.2342:0.2816:0.2609	.	206	O60813	PRA11_HUMAN	C	206;247;206	ENSP00000439551:R206C;ENSP00000391839:R206C	ENSP00000328783:R247C	R	-	1	0	PRAMEF11	12809828	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.054000	0.01399	-1.200000	0.02662	0.400000	0.26472	CGC		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	XM_496341		1:12887241
NUP153	9972	broad.mit.edu	37	6	17669530	17669530	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:17669530C>T	ENST00000262077.2	-	7	1007	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NUP153_ENST00000537253.1_Silent_p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	336					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTACAGAATTCAGAGGAGAAG	0.328																																						ENST00000262077.2		NA																	0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(1006-1008)ctG>ctA		nucleoporin 153kDa							50.0	55.0	53.0					6																	17669530		2202	4297	6499	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17669530C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1008G>A	6.37:g.17669530C>T		False	False		Somatic	0				NUP153_ENST00000537253.1_Silent_p.L336L	p.L336L	NM_005124.2	NP_005115.2	WXS	Illumina HiSeq	Phase_I	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		7	1007	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	336					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.1008G>A	CCDS4541.1																																																																																				0.328	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	0			6:17669530
AKAP12	9590	broad.mit.edu	37	6	151671524	151671524	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:151671524G>A	ENST00000253332.1	+	3	2187	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000354675.6_Silent_p.P568P|AKAP12_ENST00000402676.2_Silent_p.P666P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	666					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCCAAAGCCGGAAGAACCAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2		NA																	0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1996-1998)ccG>ccA		A kinase (PRKA) anchor protein 12							84.0	80.0	81.0					6																	151671524		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671524G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1998G>A	6.37:g.151671524G>A		False	False		Somatic	0				AKAP12_ENST00000253332.1_Silent_p.P666P|AKAP12_ENST00000354675.6_Silent_p.P568P|AKAP12_ENST00000359755.5_Silent_p.P561P	p.P666P	NM_005100.3	NP_005091.2	WXS	Illumina HiSeq	Phase_I	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2238	+		Ovarian(120;0.125)	666					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.1998G>A	CCDS5229.1																																																																																				0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	0			6:151671524
NKD1	85407	broad.mit.edu	37	16	50664178	50664178	+	Missense_Mutation	SNP	C	C	T	rs377648064		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:50664178C>T	ENST00000268459.3	+	7	768	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	182	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGATGCTGCGGGTAAAGCT	0.592																																						ENST00000268459.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(544-546)Cgg>Tgg		naked cuticle homolog 1 (Drosophila)		C	TRP/ARG	0,4396		0,0,2198	80.0	70.0	74.0		544	3.9	1.0	16		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKD1	NM_033119.4	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/471	50664178	1,12995	2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50664178C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.544C>T	16.37:g.50664178C>T	ENSP00000268459:p.Arg182Trp	True	False		Somatic	0					p.R182W	NM_033119.4	NP_149110.1	WXS	Illumina HiSeq	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	7	768	+		all_cancers(37;0.229)	182			Interaction with DVL1, DVL2 and DVL3 (By similarity).		B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.544C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707405	0.48412	0.0	1.16E-4	ENSG00000140807	ENST00000268459	T	0.72505	-0.66	4.88	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86778	0.1977	10	0.87932	D	0	-22.9129	14.0418	0.64681	0.2725:0.7275:0.0:0.0	.	182	Q969G9	NKD1_HUMAN	W	182	ENSP00000268459:R182W	ENSP00000268459:R182W	R	+	1	2	NKD1	49221679	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.134000	0.50538	1.151000	0.42436	0.655000	0.94253	CGG		0.592	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	0			16:50664178
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A	rs369600443		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	837					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACTTACCCGGCAAAAGGATG	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15832	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3		NA																	0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(2509-2511)gCc>gTc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						117.0	114.0	115.0					2																	170115538		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170115538G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2510C>T	2.37:g.170115538G>A	ENSP00000263816:p.Ala837Val	False	False		Somatic	0				LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	p.A837V	NM_004525.2	NP_004516.2	WXS	Illumina HiSeq	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	17	2795	-			837					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2510C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	NM_004525		2:170115538
TMEM132E	124842	broad.mit.edu	37	17	32953589	32953589	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:32953589C>T	ENST00000321639.5	+	2	839	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	171						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCATGCCTTCCGGGATGCCCG	0.711																																						ENST00000321639.5		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(511-513)Cgg>Tgg		transmembrane protein 132E							11.0	13.0	13.0					17																	32953589		2171	4243	6414	SO:0001583	missense	124842					integral to membrane		g.chr17:32953589C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.511C>T	17.37:g.32953589C>T	ENSP00000316532:p.Arg171Trp	True	False		Somatic	0					p.R171W	NM_207313.1	NP_997196.1	WXS	Illumina HiSeq	Phase_I	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	839	+			171					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.511C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	18.86	3.713777	0.68730	.	.	ENSG00000181291	ENST00000321639	T	0.13420	2.59	5.17	1.84	0.25277	.	0.120858	0.56097	D	0.000034	T	0.24812	0.0602	L	0.48877	1.53	0.31168	N	0.703569	D	0.89917	1.0	D	0.67548	0.952	T	0.07790	-1.0754	10	0.56958	D	0.05	-14.7201	9.9255	0.41489	0.2791:0.5861:0.1348:0.0	.	171	Q6IEE7	T132E_HUMAN	W	171	ENSP00000316532:R171W	ENSP00000316532:R171W	R	+	1	2	TMEM132E	29977702	0.999000	0.42202	0.993000	0.49108	0.971000	0.66376	0.741000	0.26202	0.545000	0.28902	-0.294000	0.09567	CGG		0.711	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	0	NM_207313		17:32953589
FANCA	2175	broad.mit.edu	37	16	89842201	89842201	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:89842201G>C	ENST00000389301.3	-	21	1879	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	617					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGGAGTACAGAGATGGGGGG	0.443			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3		NA	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(1849-1851)Ctg>Gtg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							52.0	46.0	48.0					16																	89842201		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89842201G>C	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1849C>G	16.37:g.89842201G>C	ENSP00000373952:p.Leu617Val	False	False		Somatic	0				FANCA_ENST00000567284.2_5'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.L617V	p.L617V	NM_000135.2	NP_000126.2	WXS	Illumina HiSeq	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	21	1879	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	617					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.1849C>G	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255899	0.22965	.	.	ENSG00000187741	ENST00000389301	D	0.85411	-1.98	5.03	-0.755	0.11061	.	0.494987	0.16475	N	0.212816	T	0.77246	0.4102	M	0.71581	2.175	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.20184	0.028;0.016	T	0.67898	-0.5551	10	0.66056	D	0.02	-1.1651	1.6061	0.02684	0.3053:0.1378:0.4164:0.1405	.	617;617	B4DRI7;O15360	.;FANCA_HUMAN	V	617	ENSP00000373952:L617V	ENSP00000373952:L617V	L	-	1	2	FANCA	88369702	0.000000	0.05858	0.008000	0.14137	0.759000	0.43091	-0.464000	0.06688	-0.023000	0.13963	0.650000	0.86243	CTG		0.443	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	0			16:89842201
FBXO40	51725	broad.mit.edu	37	3	121341863	121341863	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:121341863G>A	ENST00000338040.4	+	3	2001	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	529					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTCCCCCAGGGCAAAAGGCAA	0.498																																						ENST00000338040.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(1585-1587)ggG>ggA		F-box protein 40							54.0	52.0	53.0					3																	121341863		2203	4300	6503	SO:0001819	synonymous_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121341863G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1587G>A	3.37:g.121341863G>A		True	False		Somatic	0					p.G529G	NM_016298.3	NP_057382.2	WXS	Illumina HiSeq	Phase_I	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	2001	+			529					B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	c.1587G>A	CCDS33835.1																																																																																				0.498	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	0	NM_016298		3:121341863
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5		NA																	1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A		False	False		Somatic	0				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S769S	NM_001014342.2	NP_001014364.1	WXS	Illumina HiSeq	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	0	NM_001014342		1:152327955
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473																																						ENST00000260302.3		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(241-243)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							155.0	150.0	152.0					11																	102826101		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826101C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.242G>A	11.37:g.102826101C>T	ENSP00000260302:p.Gly81Asp	False	False		Somatic	0				MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	p.G81D	NM_002427.3	NP_002418.1	WXS	Illumina HiSeq	Phase_I	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	270	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	81					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.242G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		0.473	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	NM_002427		11:102826101
LY75	4065	broad.mit.edu	37	2	160738720	160738720	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:160738720C>A	ENST00000263636.4	-	7	1188	c.1161G>T	c.(1159-1161)gcG>gcT	p.A387A	LY75-CD302_ENST00000504764.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A|LY75_ENST00000554112.1_Silent_p.A387A|LY75_ENST00000553424.1_Silent_p.A387A	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	387	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTTGCATTTCGCATGTGCCT	0.423																																						ENST00000263636.4		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1159-1161)gcG>gcT		lymphocyte antigen 75							151.0	145.0	147.0					2																	160738720		2203	4300	6503	SO:0001819	synonymous_variant	4065							g.chr2:160738720C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1161G>T	2.37:g.160738720C>A		True	False		Somatic	0				LY75_ENST00000553424.1_Silent_p.A387A|LY75-CD302_ENST00000504764.1_Silent_p.A387A|LY75-CD302_ENST00000505052.1_Silent_p.A387A|LY75_ENST00000554112.1_Silent_p.A387A	p.A387A	NM_002349.3	NP_002340.2	WXS	Illumina HiSeq	Phase_I				COAD - Colon adenocarcinoma(177;0.132)	7	1188	-			NA					O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.1161G>T	CCDS2211.1																																																																																				0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1	0			2:160738720
RPS6KA6	27330	broad.mit.edu	37	X	83319323	83319323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:83319323G>A	ENST00000262752.2	-	22	2207	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	734					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGCTCCGTCGCTGGGCTAAG	0.458																																						ENST00000262752.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(2200-2202)Cga>Tga		ribosomal protein S6 kinase, 90kDa, polypeptide 6							97.0	78.0	84.0					X																	83319323		2203	4300	6503	SO:0001587	stop_gained	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83319323G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2200C>T	X.37:g.83319323G>A	ENSP00000262752:p.Arg734*	False	False		Somatic	0				RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	p.R734*	NM_014496.4	NP_055311.1	WXS	Illumina HiSeq	Phase_I	Q9UK32	KS6A6_HUMAN			22	2207	-			734					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Nonsense_Mutation	SNP	ENST00000262752.2	37	c.2200C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373426	0.95923	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2327	0.59953	0.0:0.0:0.5813:0.4187	.	.	.	.	X	734	.	ENSP00000262752:R734X	R	-	1	2	RPS6KA6	83205979	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.126000	0.50477	0.011000	0.14865	0.600000	0.82982	CGA		0.458	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	0	NM_014496		X:83319323
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
WDR78	79819	broad.mit.edu	37	1	67303362	67303362	+	Intron	SNP	T	T	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:67303362T>G	ENST00000371026.3	-	10	1637				WDR78_ENST00000371023.3_Missense_Mutation_p.I538L|WDR78_ENST00000431318.1_Intron	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78						hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AACAGCCAGATAAAAATGCTT	0.299																																						ENST00000371023.3		NA																	0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1612-1614)Atc>Ctc		WD repeat domain 78							51.0	50.0	50.0					1																	67303362		2203	4300	6503	SO:0001627	intron_variant	79819							g.chr1:67303362T>G	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1581+30A>C	1.37:g.67303362T>G		True	False		Somatic	0				WDR78_ENST00000431318.1_Intron|WDR78_ENST00000371026.3_Intron	p.I538L	NM_207014.2	NP_996897.2	WXS	Illumina HiSeq	Phase_I	Q5VTH9	WDR78_HUMAN			10	1620	-			0					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1612A>C	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958846	0.34565	.	.	ENSG00000152763	ENST00000371023;ENST00000531552	T;T	0.30182	2.23;1.54	5.32	2.91	0.33838	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20773	-1.0265	7	0.87932	D	0	.	4.8925	0.13733	0.1666:0.0922:0.0:0.7412	.	.	.	.	L	538;160	ENSP00000360062:I538L;ENSP00000433037:I160L	ENSP00000360062:I538L	I	-	1	0	WDR78	67075950	0.592000	0.26832	0.047000	0.18901	0.027000	0.11550	1.159000	0.31749	0.919000	0.36945	0.533000	0.62120	ATC		0.299	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	0	NM_024763		1:67303362
ACAP2	23527	broad.mit.edu	37	3	195027329	195027329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:195027329C>T	ENST00000326793.6	-	13	1257	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	343	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCGGAATCTGCCTGGAGCATG	0.403																																						ENST00000326793.6		NA																	0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1027-1029)Gca>Aca		ArfGAP with coiled-coil, ankyrin repeat and PH domains 2							126.0	126.0	126.0					3																	195027329		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195027329C>T		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1027G>A	3.37:g.195027329C>T	ENSP00000324287:p.Ala343Thr	False	False		Somatic	0					p.A343T	NM_012287.5	NP_036419.3	WXS	Illumina HiSeq	Phase_I	Q15057	ACAP2_HUMAN			13	1257	-			343			PH.		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1027G>A	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.136760|5.136760	0.94517|0.94517	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	T|.	0.78126|.	-1.15|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84552|0.84552	0.5497|0.5497	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86482|0.86482	0.1792|0.1792	10|5	0.87932|.	D|.	0|.	.|.	18.7846|18.7846	0.91949|0.91949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|.	Q15057|.	ACAP2_HUMAN|.	T|D	343|217	ENSP00000324287:A343T|.	ENSP00000324287:A343T|.	A|G	-|-	1|2	0|0	ACAP2|ACAP2	196508618|196508618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	2.662000|2.662000	0.90505|0.90505	0.609000|0.609000	0.83330|0.83330	GCA|GGC		0.403	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	0	NM_012287		3:195027329
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632																																						ENST00000257901.3		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(352-354)tgC>tgT		keratin 85							164.0	153.0	157.0					12																	52760836		2203	4296	6499	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760836G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.354C>T	12.37:g.52760836G>A		False	False		Somatic	0					p.C118C	NM_002283.3	NP_002274.1	WXS	Illumina HiSeq	Phase_I	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	429	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		118			Head.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.354C>T	CCDS8824.1																																																																																				0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	0	NM_002283		12:52760836
TTK	7272	broad.mit.edu	37	6	80720617	80720617	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:80720617A>T	ENST00000369798.2	+	5	667	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	TTK_ENST00000230510.3_Missense_Mutation_p.N186Y|TTK_ENST00000509894.1_Missense_Mutation_p.N186Y	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	186					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGCCCTGCGGAATTTAAACCT	0.363																																						ENST00000509894.1		NA																	0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(556-558)Aat>Tat		TTK protein kinase							60.0	69.0	66.0					6																	80720617		2203	4300	6503	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720617A>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.556A>T	6.37:g.80720617A>T	ENSP00000358813:p.Asn186Tyr	False	False		Somatic	0				TTK_ENST00000230510.3_Missense_Mutation_p.N186Y|TTK_ENST00000369798.2_Missense_Mutation_p.N186Y	p.N186Y			WXS	Illumina HiSeq	Phase_I	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1385	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	186					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.556A>T	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415177	0.83449	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.89123	-2.47;-2.47;-2.47	4.95	4.95	0.65309	.	0.090404	0.85682	D	0.000000	D	0.92061	0.7484	M	0.68952	2.095	0.50171	D	0.999852	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	D	0.93268	0.6649	10	0.87932	D	0	.	14.0796	0.64912	1.0:0.0:0.0:0.0	.	186;186	P33981;A8K8U5	TTK_HUMAN;.	Y	186	ENSP00000422936:N186Y;ENSP00000230510:N186Y;ENSP00000358813:N186Y	ENSP00000230510:N186Y	N	+	1	0	TTK	80777336	1.000000	0.71417	0.899000	0.35326	0.986000	0.74619	8.060000	0.89464	1.982000	0.57802	0.459000	0.35465	AAT		0.363	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	0			6:80720617
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000557395.1_3'UTR|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517																																						ENST00000370345.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(532-534)cgG>cgA		SEC31 homolog B (S. cerevisiae)							191.0	164.0	173.0					10																	102267770		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267770C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.534G>A	10.37:g.102267770C>T		False	False		Somatic	0				NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000370329.5_Silent_p.R181R	p.R178R	NM_015490.3	NP_056305.1	WXS	Illumina HiSeq	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	6	631	-		Colorectal(252;0.117)	178					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.534G>A	CCDS7495.1																																																																																				0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	0	NM_015490		10:102267770
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3		NA																	6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	True	False		Somatic	0				RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	WXS	Illumina HiSeq	Phase_I	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	0	XM_929931		2:107049681
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	73					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTTGAAGCGCAAAAACCCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20352	0.0		0.0	False		,,,				2504	0.0					ENST00000346248.5		NA																	0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(217-219)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	85.0	75.0	79.0		217,217	4.8	1.0	10	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense	CHST15	NM_014863.2,NM_015892.3	180,180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	73/507,73/562	125805512	3,13003	2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805512G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.217C>T	10.37:g.125805512G>A	ENSP00000333947:p.Arg73Cys	False	False		Somatic	0				CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C	p.R73C	NM_015892.4	NP_056976.2	WXS	Illumina HiSeq	Phase_I	Q7LFX5	CHSTF_HUMAN			2	859	-			73					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.217C>T	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		0.453	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	0	NM_015892		10:125805512
CHRNA9	55584	broad.mit.edu	37	4	40351405	40351405	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:40351405C>T	ENST00000310169.2	+	4	1011	c.872C>T	c.(871-873)cCg>cTg	p.P291L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	291					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	GAAATCATGCCGGCCTCAGAA	0.512																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2		NA																	0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(871-873)cCg>cTg		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						70.0	76.0	74.0					4																	40351405		2202	4300	6502	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351405C>T	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.872C>T	4.37:g.40351405C>T	ENSP00000312663:p.Pro291Leu	False	False		Somatic	0					p.P291L	NM_017581.3	NP_060051.2	WXS	Illumina HiSeq	Phase_I	Q9UGM1	ACHA9_HUMAN			4	1011	+			291					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.872C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355172	0.82243	.	.	ENSG00000174343	ENST00000310169	D	0.99382	-5.8	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97219	0.9876	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	291	Q9UGM1	ACHA9_HUMAN	L	291	ENSP00000312663:P291L	ENSP00000312663:P291L	P	+	2	0	CHRNA9	40046162	1.000000	0.71417	0.979000	0.43373	0.662000	0.39071	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCG		0.512	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	0			4:40351405
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:10136015C>T	ENST00000419585.1	+	40	4092	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000287647.3_Missense_Mutation_p.P1311S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(3931-3933)Ccg>Tcg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							244.0	257.0	253.0					3																	10136015		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10136015C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3931C>T	3.37:g.10136015C>T	ENSP00000398754:p.Pro1311Ser	False	False		Somatic	0				FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR	p.P1311S	NM_033084.3	NP_149075.2	WXS	Illumina HiSeq	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4024	+			1311					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3931C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665905	0.88251	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.62788	-0.0;-0.0;-0.0	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81022	-0.1121	10	0.49607	T	0.09	.	12.6777	0.56903	0.0:0.9205:0.0:0.0795	.	1311;1311	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	1311	ENSP00000287647:P1311S;ENSP00000373318:P1311S;ENSP00000398754:P1311S	ENSP00000287647:P1311S	P	+	1	0	FANCD2	10111015	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.360000	0.79487	1.478000	0.48253	0.644000	0.83932	CCG		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1	0			3:10136015
UBALD2	283991	broad.mit.edu	37	17	74261669	74261669	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:74261669C>A	ENST00000327490.6	+	1	387	c.83C>A	c.(82-84)gCg>gAg	p.A28E	UBALD2_ENST00000589240.1_5'Flank	NM_182565.3	NP_872371.1	Q8IYN6	UBAD2_HUMAN	UBA-like domain containing 2	28																	GCCGACCAGGCGAAGCAGTTG	0.771																																						ENST00000327490.6		NA																	0					NA						c.(82-84)gCg>gAg		UBA-like domain containing 2							10.0	12.0	11.0					17																	74261669		2109	4182	6291	SO:0001583	missense	283991							g.chr17:74261669C>A		CCDS11742.1	17q25.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000185262	ENSG00000185262			28438	protein-coding gene	gene with protein product			"""family with sequence similarity 100, member B"""	FAM100B			Standard	NM_182565		Approved	MGC29814	uc010wsy.1	Q8IYN6	OTTHUMG00000132666	ENST00000327490.6:c.83C>A	17.37:g.74261669C>A	ENSP00000331298:p.Ala28Glu	False	False		Somatic	0					p.A28E	NM_182565.3	NP_872371.1	WXS	Illumina HiSeq	Phase_I					1	387	+			NA						Missense_Mutation	SNP	ENST00000327490.6	37	c.83C>A	CCDS11742.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576128	0.86645	.	.	ENSG00000185262	ENST00000327490	.	.	.	2.59	2.59	0.31030	UBA-like (1);	0.000000	0.56097	U	0.000040	T	0.75796	0.3898	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.78899	-0.2022	9	0.87932	D	0	-8.3367	10.3969	0.44207	0.0:1.0:0.0:0.0	.	28	Q8IYN6	F100B_HUMAN	E	28	.	ENSP00000331298:A28E	A	+	2	0	FAM100B	71773264	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.421000	0.59848	1.441000	0.47550	0.551000	0.68910	GCG		0.771	UBALD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255920.1	0	NM_182565		17:74261669
EPHX1	2052	broad.mit.edu	37	1	226032215	226032215	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:226032215G>A	ENST00000366837.4	+	8	1253	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	353					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCCTGGACGACCTGCTGAC	0.552																																						ENST00000366837.4		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1057-1059)Gac>Aac		epoxide hydrolase 1, microsomal (xenobiotic)							130.0	108.0	115.0					1																	226032215		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032215G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1057G>A	1.37:g.226032215G>A	ENSP00000355802:p.Asp353Asn	False	False		Somatic	0				RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N	p.D353N	NM_000120.3	NP_000111.1	WXS	Illumina HiSeq	Phase_I	P07099	HYEP_HUMAN			8	1253	+	Breast(184;0.197)		353					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1057G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973433	0.92919	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.75704	-0.96;-0.96	5.37	5.37	0.77165	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	M	0.90814	3.15	0.80722	D	1	D	0.60160	0.987	P	0.62649	0.905	D	0.90256	0.4297	10	0.72032	D	0.01	-22.9316	19.464	0.94931	0.0:0.0:1.0:0.0	.	353	P07099	HYEP_HUMAN	N	353	ENSP00000272167:D353N;ENSP00000355802:D353N	ENSP00000272167:D353N	D	+	1	0	EPHX1	224098838	1.000000	0.71417	0.800000	0.32199	0.506000	0.33950	7.817000	0.86213	2.686000	0.91538	0.561000	0.74099	GAC		0.552	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	0	NM_000120		1:226032215
ITGA6	3655	broad.mit.edu	37	2	173356027	173356027	+	Missense_Mutation	SNP	C	C	T	rs556687135		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:173356027C>T	ENST00000264106.6	+	23	3177	c.2974C>T	c.(2974-2976)Cgc>Tgc	p.R992C	ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.R992C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C			P23229	ITA6_HUMAN	integrin, alpha 6	992					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTTATTTTGCGCTCGAGGTT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19027	0.001		0.0	False		,,,				2504	0.0					ENST00000375221.2		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(2974-2976)Cgc>Tgc		integrin, alpha 6							135.0	134.0	135.0					2																	173356027		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173356027C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2974C>T	2.37:g.173356027C>T	ENSP00000264106:p.Arg992Cys	False	False		Somatic	0				ITGA6_ENST00000264106.6_Missense_Mutation_p.R992C|ITGA6_ENST00000409532.1_Missense_Mutation_p.R834C|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.R953C|ITGA6_ENST00000264107.7_Missense_Mutation_p.R953C|ITGA6_ENST00000343713.4_Missense_Mutation_p.R948C	p.R992C			WXS	Illumina HiSeq	Phase_I	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		23	3177	+			992					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2974C>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.671175	0.47781	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.21	5.21	0.72293	.	0.095115	0.64402	D	0.000002	T	0.55114	0.1900	M	0.86651	2.83	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72338	0.954;0.969;0.969;0.977	T	0.62134	-0.6918	10	0.66056	D	0.02	.	13.6878	0.62526	0.1545:0.8455:0.0:0.0	.	948;977;953;953	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	C	834;953;992;992;948;953;992;948;120	ENSP00000386614:R834C;ENSP00000264107:R953C;ENSP00000264106:R992C;ENSP00000364369:R992C;ENSP00000341078:R948C;ENSP00000386896:R953C;ENSP00000406694:R992C;ENSP00000394169:R948C;ENSP00000388435:R120C	ENSP00000264106:R992C	R	+	1	0	ITGA6	173064273	1.000000	0.71417	0.982000	0.44146	0.210000	0.24377	2.670000	0.46833	2.432000	0.82394	0.467000	0.42956	CGC		0.493	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		0			2:173356027
ZNF175	7728	broad.mit.edu	37	19	52090881	52090881	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52090881A>G	ENST00000262259.2	+	5	1655	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	433					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCAGAAGTCAACACTCAGCTT	0.473																																						ENST00000262259.2		NA																	0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)Aca>Gca		zinc finger protein 175							69.0	66.0	67.0					19																	52090881		2203	4299	6502	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090881A>G	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1297A>G	19.37:g.52090881A>G	ENSP00000262259:p.Thr433Ala	False	False		Somatic	0				ZNF175_ENST00000436511.2_Intron	p.T433A	NM_007147.2	NP_009078.1	WXS	Illumina HiSeq	Phase_I	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1655	+		all_neural(266;0.0299)	433					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.1297A>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	7.325	0.617711	0.14129	.	.	ENSG00000105497	ENST00000262259	T	0.35421	1.31	2.39	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	N	0.03238	-0.38	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30650	-0.9971	9	0.08381	T	0.77	.	3.2726	0.06887	0.3719:0.0:0.4173:0.2107	.	433	Q9Y473	ZN175_HUMAN	A	433	ENSP00000262259:T433A	ENSP00000262259:T433A	T	+	1	0	ZNF175	56782693	0.000000	0.05858	0.677000	0.29947	0.993000	0.82548	-1.388000	0.02533	-0.348000	0.08286	-0.290000	0.09829	ACA		0.473	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	0	NM_007147		19:52090881
FBN1	2200	broad.mit.edu	37	15	48707785	48707785	+	Missense_Mutation	SNP	C	C	T	rs149062442		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:48707785C>T	ENST00000316623.5	-	64	8454	c.7999G>A	c.(7999-8001)Gag>Aag	p.E2667K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2667	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAACCGCCCTCGGTATTGGAA	0.542																																						ENST00000316623.5		NA																	0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7999-8001)Gag>Aag		fibrillin 1		C	LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	85.0	75.0	79.0		7999	5.8	1.0	15	dbSNP_134	79	1,8591	1.2+/-3.3	0,1,4295	no	missense	FBN1	NM_000138.4	56	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	benign	2667/2872	48707785	2,12986	2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48707785C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7999G>A	15.37:g.48707785C>T	ENSP00000325527:p.Glu2667Lys	False	False		Somatic	0				FBN1_ENST00000561429.1_5'UTR	p.E2667K	NM_000138.4	NP_000129	WXS	Illumina HiSeq	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	64	8454	-		all_lung(180;0.00279)	2667			EGF-like 47; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7999G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651521	0.47362	2.27E-4	1.16E-4	ENSG00000166147	ENST00000316623	D	0.87412	-2.25	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.155020	0.64402	D	0.000019	T	0.74329	0.3702	N	0.16266	0.395	0.80722	D	1	P	0.44090	0.826	B	0.34452	0.183	T	0.76063	-0.3096	10	0.06099	T	0.92	.	18.8343	0.92155	0.0:1.0:0.0:0.0	.	2667	P35555	FBN1_HUMAN	K	2667	ENSP00000325527:E2667K	ENSP00000325527:E2667K	E	-	1	0	FBN1	46495077	1.000000	0.71417	0.988000	0.46212	0.657000	0.38888	4.893000	0.63199	2.745000	0.94114	0.655000	0.94253	GAG		0.542	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	0			15:48707785
AP1S2	8905	broad.mit.edu	37	X	15870623	15870623	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:15870623G>A	ENST00000329235.2	-	2	268	c.25C>T	c.(25-27)Cgt>Tgt	p.R9C	AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C|AP1S2_ENST00000380291.1_Missense_Mutation_p.R9C	NM_001272071.1|NM_003916.3	NP_001259000.1|NP_003907.3	P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	9					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			large_intestine(1)	1	Hepatocellular(33;0.183)					tttccctgacgactaaaAAGC	0.338																																						ENST00000380291.1		NA																	0				large_intestine(1)	1						c.(25-27)Cgt>Tgt		adaptor-related protein complex 1, sigma 2 subunit							91.0	76.0	81.0					X																	15870623		2203	4300	6503	SO:0001583	missense	8905				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity	g.chrX:15870623G>A	AB015320	CCDS14173.1, CCDS75958.1	Xp22	2014-01-31			ENSG00000182287	ENSG00000182287			560	protein-coding gene	gene with protein product		300629	"""mental retardation, X-linked 59"", ""mental retardation, X-linked, syndromic 5"", ""Pettigrew X-linked mental retardation syndrome"""	MRX59, MRXS5, PGS		9733768, 17186471, 23756445	Standard	NM_003916		Approved	SIGMA1B	uc010nex.4	P56377	OTTHUMG00000021186	ENST00000329235.2:c.25C>T	X.37:g.15870623G>A	ENSP00000328789:p.Arg9Cys	False	False		Somatic	0				AP1S2_ENST00000329235.2_Missense_Mutation_p.R9C|AP1S2_ENST00000545766.1_Missense_Mutation_p.R51C|AP1S2_ENST00000421527.2_Missense_Mutation_p.R51C	p.R9C			WXS	Illumina HiSeq	Phase_I	P56377	AP1S2_HUMAN			2	141	-	Hepatocellular(33;0.183)		9					B4DSU4|O95326|Q9H2N6	Missense_Mutation	SNP	ENST00000329235.2	37	c.25C>T	CCDS14173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.40|17.40	3.381347|3.381347	0.61845|0.61845	.|.	.|.	ENSG00000182287|ENSG00000182287	ENST00000329235;ENST00000380291;ENST00000545766;ENST00000421527;ENST00000340245|ENST00000452376	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.057724|.	0.64402|.	N|.	0.000003|.	D|D	0.85716|0.85716	0.5761|0.5761	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	B;P;P;P;P;P|.	0.44946|.	0.296;0.846;0.78;0.554;0.554;0.718|.	B;B;B;B;B;B|.	0.42495|.	0.127;0.203;0.261;0.389;0.389;0.337|.	D|D	0.88336|0.88336	0.2971|0.2971	9|6	0.87932|0.87932	D|D	0|0	-9.971|-9.971	19.1122|19.1122	0.93321|0.93321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	9;51;51;9;9;6|.	B7Z853;B4DSU4;B7Z3M9;Q549M9;P56377;E9PE78|.	.;.;.;.;AP1S2_HUMAN;.|.	C|L	9;9;51;51;6|5	.|.	ENSP00000328789:R9C|ENSP00000403498:S5L	R|S	-|-	1|2	0|0	AP1S2|AP1S2	15780544|15780544	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.090000|6.090000	0.71397|0.71397	2.463000|2.463000	0.83235|0.83235	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.338	AP1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055893.1	0	NM_003916		X:15870623
CCDC149	91050	broad.mit.edu	37	4	24839847	24839847	+	Silent	SNP	G	G	A	rs370337373		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:24839847G>A	ENST00000389609.4	-	6	563	c.420C>T	c.(418-420)atC>atT	p.I140I	CCDC149_ENST00000504487.1_Silent_p.I140I|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GTCGCACGCCGATTGCTTCGT	0.483																																						ENST00000504487.1		NA																	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7						c.(418-420)atC>atT		coiled-coil domain containing 149		G	,	0,4406		0,0,2203	149.0	134.0	139.0		420,420	-4.9	0.5	4		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CCDC149	NM_001130726.2,NM_173463.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	140/530,140/530	24839847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91050							g.chr4:24839847G>A		CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.420C>T	4.37:g.24839847G>A		False	False		Somatic	0				CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Silent_p.I140I|CCDC149_ENST00000502801.1_Intron	p.I140I	NM_001130726.2	NP_001124198.1	WXS	Illumina HiSeq	Phase_I	B4DZG3	B4DZG3_HUMAN			5	426	-		Breast(46;0.173)	140					A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	ENST00000389609.4	37	c.420C>T	CCDS33967.2																																																																																				0.483	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	0	NM_173463		4:24839847
SLC32A1	140679	broad.mit.edu	37	20	37356232	37356232	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:37356232C>T	ENST00000217420.1	+	2	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	176					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647																																						ENST00000217420.1		NA																	0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(526-528)gaC>gaT		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						77.0	62.0	67.0					20																	37356232		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356232C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.528C>T	20.37:g.37356232C>T		False	False		Somatic	0					p.D176D	NM_080552.2	NP_542119.1	WXS	Illumina HiSeq	Phase_I	Q9H598	VIAAT_HUMAN			2	791	+		Myeloproliferative disorder(115;0.00878)	176					Q8N489	Silent	SNP	ENST00000217420.1	37	c.528C>T	CCDS13307.1																																																																																				0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	0	NM_080552		20:37356232
GPAT2	150763	broad.mit.edu	37	2	96690527	96690527	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:96690527A>G	ENST00000434632.1	-	15	1881	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	GPAT2_ENST00000377137.3_Silent_p.H474H|GPAT2_ENST00000453542.1_Silent_p.H403H|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Silent_p.H474H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	474					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTACCTTCTGATGCTTGAAGA	0.652																																						ENST00000434632.1		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1420-1422)caT>caC		glycerol-3-phosphate acyltransferase 2, mitochondrial							120.0	130.0	126.0					2																	96690527		2044	4171	6215	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690527A>G	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1422T>C	2.37:g.96690527A>G		False	False		Somatic	0				GPAT2_ENST00000377137.3_Silent_p.H474H|GPAT2_ENST00000359548.4_Silent_p.H474H|GPAT2_ENST00000453542.1_Silent_p.H403H	p.H474H			WXS	Illumina HiSeq	Phase_I	Q6NUI2	GPAT2_HUMAN			15	1881	-			474					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1422T>C	CCDS42714.1																																																																																				0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	0	NM_207328		2:96690527
DLD	1738	broad.mit.edu	37	7	107546792	107546792	+	Silent	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:107546792A>C	ENST00000205402.5	+	8	944	c.663A>C	c.(661-663)gcA>gcC	p.A221A	DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000440410.1_Silent_p.A198A|DLD_ENST00000437604.2_Silent_p.A173A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	221					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TTATTGGTGCAGGAGTAATAG	0.348																																						ENST00000205402.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20						c.(661-663)gcA>gcC		dihydrolipoamide dehydrogenase	NADH(DB00157)						146.0	157.0	153.0					7																	107546792		2203	4300	6503	SO:0001819	synonymous_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107546792A>C	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.663A>C	7.37:g.107546792A>C		False	False		Somatic	0				DLD_ENST00000440410.1_Silent_p.A198A|DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000437604.2_Silent_p.A173A	p.A221A	NM_000108.3	NP_000099.2	WXS	Illumina HiSeq	Phase_I	P09622	DLDH_HUMAN			8	944	+			221					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	37	c.663A>C	CCDS5749.1																																																																																				0.348	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	0	NM_000108		7:107546792
PMFBP1	83449	broad.mit.edu	37	16	72163043	72163043	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:72163043C>G	ENST00000237353.10	-	13	2133	c.1872G>C	c.(1870-1872)aaG>aaC	p.K624N	PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N|PMFBP1_ENST00000537465.1_Missense_Mutation_p.K629N	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	629						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTTGCTCTTCTTCAACTGCT	0.468																																						ENST00000537465.1		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1885-1887)aaG>aaC		polyamine modulated factor 1 binding protein 1							287.0	291.0	290.0					16																	72163043		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72163043C>G	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.1872G>C	16.37:g.72163043C>G	ENSP00000237353:p.Lys624Asn	False	False		Somatic	0				PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.K624N	p.K629N			WXS	Illumina HiSeq	Phase_I	Q8TBY8	PMFBP_HUMAN			13	2045	-		Ovarian(137;0.179)	629					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1887G>C	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246930	0.10130	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13538	2.58;2.59;2.58	4.31	2.09	0.27110	.	0.129090	0.35646	N	0.003070	T	0.09291	0.0229	L	0.29908	0.895	0.23449	N	0.997656	B;P;B	0.39250	0.447;0.665;0.447	B;B;B	0.41088	0.147;0.347;0.147	T	0.19844	-1.0293	10	0.26408	T	0.33	-18.0873	5.1417	0.14963	0.0:0.2541:0.0:0.7459	.	629;624;629	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	N	629;624;479	ENSP00000443817:K629N;ENSP00000237353:K624N;ENSP00000347854:K479N	ENSP00000237353:K624N	K	-	3	2	PMFBP1	70720544	0.996000	0.38824	0.994000	0.49952	0.049000	0.14656	0.330000	0.19715	0.458000	0.26988	-0.302000	0.09304	AAG		0.468	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	0	NM_031293		16:72163043
IGLV1-51	28820	broad.mit.edu	37	22	22677064	22677064	+	RNA	SNP	C	C	T	rs369287589		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:22677064C>T	ENST00000390290.2	+	0	128				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 1-51																		TCAGTGTCTGCGGCCCCAGGA	0.572																																						ENST00000426066.1		NA																	0					NA										C		0,3882		0,0,1941	58.0	63.0	61.0			0.1	0.0	22		61	1,8271		0,1,4135	no	intergenic				0,1,6076	TT,TC,CC		0.0121,0.0,0.0082			22677064	1,12153	1941	4136	6077			0							g.chr22:22677064C>T	Z73661		22q11.2	2012-02-08			ENSG00000211644	ENSG00000211644		"""Immunoglobulins / IGL locus"""	5882	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151035		22.37:g.22677064C>T		False	False		Somatic	0				IGLV1-51_ENST00000390290.2_RNA		NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	1637	+			NA						RNA	SNP	ENST00000390290.2	37																																																																																						0.572	IGLV1-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321094.1	0	NG_000002		22:22677064
OSR1	130497	broad.mit.edu	37	2	19552943	19552943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:19552943G>T	ENST00000272223.2	-	2	968	c.624C>A	c.(622-624)tgC>tgA	p.C208*	OSR1_ENST00000536433.1_Nonsense_Mutation_p.C208*	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	208					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGCTTTGTGGCAGATGTCAC	0.597																																						ENST00000536433.1		NA																	0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(622-624)tgC>tgA		odd-skipped related transciption factor 1							95.0	93.0	94.0					2																	19552943		2203	4300	6503	SO:0001587	stop_gained	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19552943G>T	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.624C>A	2.37:g.19552943G>T	ENSP00000272223:p.Cys208*	False	False		Somatic	0				OSR1_ENST00000272223.2_Nonsense_Mutation_p.C208*	p.C208*			WXS	Illumina HiSeq	Phase_I	Q8TAX0	OSR1_HUMAN			1	3734	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	208					B3KV97|D6W521	Nonsense_Mutation	SNP	ENST00000272223.2	37	c.624C>A	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.611580	0.98390	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	.	.	.	6.04	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.081	8.9124	0.35561	0.2346:0.0:0.7654:0.0	.	.	.	.	X	208	.	.	C	-	3	2	OSR1	19416424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.198000	0.32223	0.838000	0.34948	0.650000	0.86243	TGC		0.597	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	0	NM_145260		2:19552943
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567																																						ENST00000356865.6		NA																	0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2410-2412)gCg>gTg		ATPase, class V, type 10A							127.0	109.0	115.0					15																	25953381		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953381G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2411C>T	15.37:g.25953381G>A	ENSP00000349325:p.Ala804Val	False	False		Somatic	0					p.A804V	NM_024490.3	NP_077816.1	WXS	Illumina HiSeq	Phase_I	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2522	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	804					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2411C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517745	0.85495	.	.	ENSG00000206190	ENST00000356865	D	0.86562	-2.14	4.84	4.84	0.62591	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98372	1.0554	10	0.87932	D	0	-25.4666	17.9717	0.89115	0.0:0.0:1.0:0.0	.	804	O60312	AT10A_HUMAN	V	804	ENSP00000349325:A804V	ENSP00000349325:A804V	A	-	2	0	ATP10A	23504474	1.000000	0.71417	0.143000	0.22291	0.460000	0.32559	9.539000	0.98076	2.231000	0.72958	0.655000	0.94253	GCG		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	0	NM_024490		15:25953381
TMEM145	284339	broad.mit.edu	37	19	42819577	42819577	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:42819577G>A	ENST00000301204.3	+	8	672	c.631G>A	c.(631-633)Gca>Aca	p.A211T	TMEM145_ENST00000598766.1_Missense_Mutation_p.A235T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	211					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.A211T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GTTCATGGCCGCAGCAggagt	0.532																																						ENST00000598766.1		NA																	1	Substitution - Missense(1)	p.A211T(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(703-705)Gca>Aca		transmembrane protein 145							110.0	104.0	106.0					19																	42819577		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819577G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.631G>A	19.37:g.42819577G>A	ENSP00000301204:p.Ala211Thr	False	False		Somatic	0				TMEM145_ENST00000301204.3_Missense_Mutation_p.A211T	p.A235T			WXS	Illumina HiSeq	Phase_I	Q8NBT3	TM145_HUMAN			8	703	+		Prostate(69;0.00682)	211						Missense_Mutation	SNP	ENST00000301204.3	37	c.703G>A	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402438	0.83230	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	4.1	4.1	0.47936	Rhodopsin-like GPCR transmembrane domain (1);	0.069434	0.56097	D	0.000036	T	0.45597	0.1350	M	0.61703	1.905	0.58432	D	0.999998	D	0.55385	0.971	P	0.47744	0.556	T	0.43686	-0.9376	10	0.37606	T	0.19	-1.784	12.1868	0.54243	0.0:0.0:1.0:0.0	.	211	Q8NBT3	TM145_HUMAN	T	211	ENSP00000301204:A211T	ENSP00000301204:A211T	A	+	1	0	TMEM145	47511417	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.076000	0.76806	2.011000	0.59026	0.455000	0.32223	GCA		0.532	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	0	NM_173633		19:42819577
